{ "uniprot_canonical_ac": "P05107-1", "uniprot_ac": "P05107", "uniprot_id": "ITB2_HUMAN", "mass": { "chemical_mass": 84791.0, "monoisotopic_mass": 84791.0 }, "refseq": { "ac": "NP_000202", "name": "integrin beta-2 isoform 1 precursor", "summary": "This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" }, "gene_names": [ { "name": "ITGB2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05107", "id": "P05107" }, { "name": "CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202", "id": "NP_000202" }, { "name": "CD18", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05107", "id": "P05107" }, { "name": "ITGB2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202", "id": "NP_000202" }, { "name": "MFI7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05107", "id": "P05107" }, { "name": "hCG_401305", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05107", "id": "P05107" } ], "protein_names": [ { "name": "Integrin beta-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05107" }, { "name": "Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05107" }, { "name": "Complement receptor C3 subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05107" }, { "name": "integrin beta-2 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202", "id": "NP_000202" }, { "name": "integrin beta-2; leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C; complement receptor C3 beta-subunit; cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor); leukocyte cell adhesion molecule CD18; integrin beta chain, beta 2; integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202", "id": "NP_000202" } ], "function": [ { "annotation": "Aminopeptidase N/CD13 Crosslinking Promotes the Activation and Membrane Expression of Integrin CD11b/CD18. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" }, { "database": "PubMed", "id": "37892170", "url": "https://glygen.org/publication/PubMed/37892170" } ] }, { "annotation": "Characterization of tumor microenvironment in glioblastoma multiforme identifies ITGB2 as a key immune and stromal related regulator in glial cell types.", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" }, { "database": "PubMed", "id": "37660569", "url": "https://glygen.org/publication/PubMed/37660569" } ] }, { "annotation": "Identification of an association between coronary heart disease and ITGB2 methylation in peripheral blood by a case-control study.", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" }, { "database": "PubMed", "id": "37923103", "url": "https://glygen.org/publication/PubMed/37923103" } ] }, { "annotation": "Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrin ITGAL/ITGB2 is also a receptor for the secreted form of ubiquitin-like protein ISG15; the interaction is mediated by ITGAL (PubMed:29100055). Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407).", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#function" }, { "database": "PubMed", "id": "18587400", "url": "https://glygen.org/publication/PubMed/18587400" }, { "database": "PubMed", "id": "11812992", "url": "https://glygen.org/publication/PubMed/11812992" }, { "database": "PubMed", "id": "15356110", "url": "https://glygen.org/publication/PubMed/15356110" }, { "database": "PubMed", "id": "23775590", "url": "https://glygen.org/publication/PubMed/23775590" }, { "database": "PubMed", "id": "28807980", "url": "https://glygen.org/publication/PubMed/28807980" }, { "database": "PubMed", "id": "21193407", "url": "https://glygen.org/publication/PubMed/21193407" }, { "database": "PubMed", "id": "29100055", "url": "https://glygen.org/publication/PubMed/29100055" } ] }, { "annotation": "This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" } ] } ], "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ], "evidence": [ { "id": "116920", "database": "MIM", "url": "https://www.omim.org/entry/116920" } ] } ], "snv": [ { "evidence": [ { "id": "rs915995681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915995681" }, { "id": "rs915995681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915995681#frequency_tab" }, { "id": "rs915995681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915995681" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 116, "end_pos": 116, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "21", "chr_pos": "44903517", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758449686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758449686" }, { "id": "rs758449686", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758449686" }, { "id": "rs758449686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758449686#frequency_tab" }, { "id": "rs758449686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758449686" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVI).", "chr_id": "21", "chr_pos": "44903511", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758449686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758449686" }, { "id": "rs758449686", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758449686" }, { "id": "rs758449686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758449686#frequency_tab" }, { "id": "rs758449686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758449686" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVN).", "chr_id": "21", "chr_pos": "44903511", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T118", "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1601306169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601306169" }, { "id": "rs1601306169", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601306169" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVP).", "chr_id": "21", "chr_pos": "44901710", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745917556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917556" }, { "id": "rs745917556", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745917556" }, { "id": "rs745917556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745917556" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 134, "end_pos": 134, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "21", "chr_pos": "44903464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D134", "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs376609171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376609171" }, { "id": "rs376609171", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376609171" }, { "id": "rs376609171", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376609171#frequency_tab" }, { "id": "rs376609171", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376609171" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "21", "chr_pos": "44901599", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N212", "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P05107", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05107" }, { "id": "rs756545465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756545465" }, { "id": "rs756545465", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756545465" }, { "id": "rs756545465", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756545465#frequency_tab" }, { "id": "rs756545465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756545465" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 256, "end_pos": 256, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "21", "chr_pos": "44900450", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T256", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs137852616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852616" }, { "id": "rs137852616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852616" }, { "id": "rs137852616", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852616#frequency_tab" }, { "id": "rs137852616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852616" }, { "id": "7143170", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7143170" }, { "id": "7686755", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/7686755" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 284, "end_pos": 284, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDG->NDS).", "chr_id": "21", "chr_pos": "44900367", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G284", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ] } ] }, { "evidence": [ { "id": "P05107", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05107" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 379, "end_pos": 379, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "21", "chr_pos": "44893491", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K379", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs61737079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61737079" }, { "id": "rs61737079", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs61737079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 396, "end_pos": 396, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "21", "chr_pos": "44893442", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs371797683", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371797683" }, { "id": "rs371797683", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371797683" }, { "id": "rs371797683", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371797683#frequency_tab" }, { "id": "rs371797683", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371797683" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 501, "end_pos": 501, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "21", "chr_pos": "44890134", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N501", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1568882038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1568882038" }, { "id": "rs1568882038", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1568882038" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 503, "end_pos": 503, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNP).", "chr_id": "21", "chr_pos": "44890128", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs199810704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199810704" }, { "id": "rs199810704", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199810704" }, { "id": "rs199810704", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199810704" }, { "id": "rs199810704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199810704" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 50, "end_pos": 50, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->YFT).", "chr_id": "21", "chr_pos": "44907095", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05107", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05107" } ], "glycoeffect": [], "start_pos": 5, "end_pos": 5, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "21", "chr_pos": "44910770", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R5", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1390268627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390268627" }, { "id": "rs1390268627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390268627" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 642, "end_pos": 642, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->HCS).", "chr_id": "21", "chr_pos": "44888849", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N642", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1396580119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396580119" }, { "id": "rs1396580119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396580119" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 642, "end_pos": 642, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "21", "chr_pos": "44888847", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N642", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371729599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371729599" }, { "id": "rs1371729599", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371729599#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 644, "end_pos": 644, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCG).", "chr_id": "21", "chr_pos": "44888843", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S644", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05107", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05107" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 644, "end_pos": 644, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCS->NCR).", "chr_id": "21", "chr_pos": "44888841", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S644", "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs540038454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540038454" }, { "id": "rs540038454", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540038454" }, { "id": "rs540038454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540038454" }, { "id": "rs540038454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540038454#frequency_tab" }, { "id": "rs540038454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540038454" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 702, "end_pos": 702, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "21", "chr_pos": "44886879", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "A702", "disease": [ { "disease_id": "DOID:0110910", "recommended_name": { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency 1", "description": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3." }, "synonyms": [ { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LAD1", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "DOID:0110910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110910", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections." }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "ITGB2 leukocyte adhesion deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LAD1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA-I deficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad-type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency caused by mutation in ITGB2", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency type I", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lymphocyte function-associated antigen 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "LFA 1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lad1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "Lfa1 immunodeficiency", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "lad 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type 1", "description": "" }, { "id": "MONDO:0007293", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007293", "name": "leukocyte adhesion deficiency, type I", "description": "" }, { "id": "MIM:116920", "resource": "MIM", "url": "https://www.omim.org/entry/116920", "name": "Leukocyte adhesion deficiency 1", "description": "Leukocyte adhesion deficiency 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 758, "end_pos": 758, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes phosphorylation. Reduces COS cell adhesion to ICAM1.", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "PubMed", "id": "16301335", "url": "https://glygen.org/publication/PubMed/16301335" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "56.29", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "75.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "80.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05107" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "common_name": "Human" } ], "gene": [ { "name": "ITGB2", "url": "https://www.uniprot.org/uniprot/P05107", "locus": { "chromosome": "21", "start_pos": 47886, "end_pos": 12789, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_76", "url": "https://www.ensembl.org/id/LRG_76" } ] } } ], "crossref": [ { "id": "ENSG00000160255", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160255", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P05107", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05107", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL3631", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3631", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ITGB2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ITGB2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3689", "url": "https://www.ncbi.nlm.nih.gov/gene/3689", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1415", "url": "https://glyconnect.expasy.org/browser/proteins/1415", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "6155", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6155", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P05107", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05107*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002369", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002369", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012896", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012896", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014836", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014836", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015439", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015439", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015812", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015812", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016201", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016201", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032695", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032695", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033760", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033760", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036349", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036349", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036465", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036465", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3689", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3689", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "116920", "url": "http://www.omim.org/entry/116920", "database": "MIM", "categories": [ "Other" ] }, { "id": "600065", "url": "http://www.omim.org/entry/600065", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P05107", "url": "https://www.nextprot.org/entry/NX_P05107", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P05107", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05107", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TNCECQC", "url": "https://omabrowser.org/oma/group/TNCECQC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5475862at2759", "url": "http://www.orthodb.org/?query=5475862at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10082", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10082", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10082:SF15", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10082:SF15", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1L3Y", "url": "https://www.rcsb.org/structure/1L3Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1YUK", "url": "https://www.rcsb.org/structure/1YUK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JF1", "url": "https://www.rcsb.org/structure/2JF1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2P26", "url": "https://www.rcsb.org/structure/2P26", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2P28", "url": "https://www.rcsb.org/structure/2P28", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2V7D", "url": "https://www.rcsb.org/structure/2V7D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3K6S", "url": "https://www.rcsb.org/structure/3K6S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3K71", "url": "https://www.rcsb.org/structure/3K71", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3K72", "url": "https://www.rcsb.org/structure/3K72", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4NEH", "url": "https://www.rcsb.org/structure/4NEH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4NEN", "url": "https://www.rcsb.org/structure/4NEN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6R", "url": "https://www.rcsb.org/structure/5E6R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6S", "url": "https://www.rcsb.org/structure/5E6S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6U", "url": "https://www.rcsb.org/structure/5E6U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6V", "url": "https://www.rcsb.org/structure/5E6V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6W", "url": "https://www.rcsb.org/structure/5E6W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E6X", "url": "https://www.rcsb.org/structure/5E6X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5ES4", "url": "https://www.rcsb.org/structure/5ES4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XR1", "url": "https://www.rcsb.org/structure/5XR1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5ZAZ", "url": "https://www.rcsb.org/structure/5ZAZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7P2D", "url": "https://www.rcsb.org/structure/7P2D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7USL", "url": "https://www.rcsb.org/structure/7USL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7USM", "url": "https://www.rcsb.org/structure/7USM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00362", "url": "http://pfam.xfam.org/family/PF00362", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07965", "url": "http://pfam.xfam.org/family/PF07965", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08725", "url": "http://pfam.xfam.org/family/PF08725", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17205", "url": "http://pfam.xfam.org/family/PF17205", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05107", "url": "https://pharos.nih.gov/targets/P05107", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P05107", "url": "http://purl.obolibrary.org/obo/PR_P05107", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A494C0X7", "url": "https://www.uniprot.org/uniprot/A0A494C0X7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0X7-1", "url": "https://www.uniprot.org/uniprot/A0A494C0X7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MVG7", "url": "https://www.uniprot.org/uniprot/A8MVG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MVG7-1", "url": "https://www.uniprot.org/uniprot/A8MVG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3DSM0", "url": "https://www.uniprot.org/uniprot/D3DSM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3DSM0-1", "url": "https://www.uniprot.org/uniprot/D3DSM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFI0", "url": "https://www.uniprot.org/uniprot/E5RFI0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RFI0-1", "url": "https://www.uniprot.org/uniprot/E5RFI0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGK9", "url": "https://www.uniprot.org/uniprot/E5RGK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGK9-1", "url": "https://www.uniprot.org/uniprot/E5RGK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHE6", "url": "https://www.uniprot.org/uniprot/E5RHE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHE6-1", "url": "https://www.uniprot.org/uniprot/E5RHE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHT0", "url": "https://www.uniprot.org/uniprot/E5RHT0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHT0-1", "url": "https://www.uniprot.org/uniprot/E5RHT0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIE4", "url": "https://www.uniprot.org/uniprot/E5RIE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIE4-1", "url": "https://www.uniprot.org/uniprot/E5RIE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIG7", "url": "https://www.uniprot.org/uniprot/E5RIG7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RIG7-1", "url": "https://www.uniprot.org/uniprot/E5RIG7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK25", "url": "https://www.uniprot.org/uniprot/E5RK25", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK25-1", "url": "https://www.uniprot.org/uniprot/E5RK25-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK54", "url": "https://www.uniprot.org/uniprot/E5RK54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RK54-1", "url": "https://www.uniprot.org/uniprot/E5RK54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EVZ9", "url": "https://www.uniprot.org/uniprot/E7EVZ9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E7EVZ9-1", "url": "https://www.uniprot.org/uniprot/E7EVZ9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNI6", "url": "https://www.uniprot.org/uniprot/J3KNI6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNI6-1", "url": "https://www.uniprot.org/uniprot/J3KNI6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05107-1", "url": "https://www.uniprot.org/uniprot/P05107-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 769, "header": "sp|P05107-1|ITB2_HUMAN Isoform 1 of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=3 CANONICAL=P05107-1" }, "isoforms": [ { "isoform_ac": "A0A494C0X7-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 769, "header": "tr|A0A494C0X7-1|A0A494C0X7_HUMAN Computationally mapped isoform of Integrin beta OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44886371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652462.1", "url": "https://www.ensembl.org/id/ENST00000652462.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498780.1", "url": "https://www.ensembl.org/id/ENSP00000498780.1" } ] } }, { "isoform_ac": "A8MVG7-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLGAALGPPAHATAASSPRRRSRVAPVCPRTEQGGQAPGGNYLGQAGFFPSPFWRFSAPLK", "length": 108, "header": "tr|A8MVG7-1|ITB2_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44908006, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397846.7", "url": "https://www.ensembl.org/id/ENST00000397846.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380944.3", "url": "https://www.ensembl.org/id/ENSP00000380944.3" } ] } }, { "isoform_ac": "D3DSM0-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 712, "header": "tr|D3DSM0-1|ITB2_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44886371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397854.7", "url": "https://www.ensembl.org/id/ENST00000397854.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380952.3", "url": "https://www.ensembl.org/id/ENSP00000380952.3" } ] } }, { "isoform_ac": "E5RFI0-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLM", "length": 70, "header": "tr|E5RFI0-1|ITB2_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44907033, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517819.5", "url": "https://www.ensembl.org/id/ENST00000517819.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428870.1", "url": "https://www.ensembl.org/id/ENSP00000428870.1" } ] } }, { "isoform_ac": "E5RGK9-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCGRPRAPTHQPASSLSPLSGVHEVQGQQLPGMHRVGARLHLVPEAELHRAGGS", "length": 71, "header": "tr|E5RGK9-1|E5RGK9_HUMAN Computationally mapped isoform of Integrin subunit beta 2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=4 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44907073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523323.5", "url": "https://www.ensembl.org/id/ENST00000523323.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427732.1", "url": "https://www.ensembl.org/id/ENSP00000427732.1" } ] } }, { "isoform_ac": "E5RHE6-1", "url": "", "sequence": { "sequence": "MRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLY", "length": 37, "header": "tr|E5RHE6-1|E5RHE6_HUMAN Computationally mapped isoform of Integrin subunit beta 2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44907035, "end_pos": 44906925, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524251.1", "url": "https://www.ensembl.org/id/ENST00000524251.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430901.1", "url": "https://www.ensembl.org/id/ENSP00000430901.1" } ] } }, { "isoform_ac": "E5RHT0-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKL", "length": 49, "header": "tr|E5RHT0-1|E5RHT0_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44910284, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000521995.1", "url": "https://www.ensembl.org/id/ENST00000521995.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429683.1", "url": "https://www.ensembl.org/id/ENSP00000429683.1" } ] } }, { "isoform_ac": "E5RIE4-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLGAALGPPAHATAASSPRRRSRVAPVCPRTEQGGQAPELHRAGGS", "length": 93, "header": "tr|E5RIE4-1|ITB2_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44907073, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000520389.5", "url": "https://www.ensembl.org/id/ENST00000520389.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428434.1", "url": "https://www.ensembl.org/id/ENSP00000428434.1" } ] } }, { "isoform_ac": "E5RIG7-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFR", "length": 120, "header": "tr|E5RIG7-1|E5RIG7_HUMAN Computationally mapped isoform of Integrin subunit beta 2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44903504, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517563.5", "url": "https://www.ensembl.org/id/ENST00000517563.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428413.1", "url": "https://www.ensembl.org/id/ENSP00000428413.1" } ] } }, { "isoform_ac": "E5RK25-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEI", "length": 160, "header": "tr|E5RK25-1|ITB2_HUMAN Computationally mapped isoform of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44903384, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522931.5", "url": "https://www.ensembl.org/id/ENST00000522931.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428979.1", "url": "https://www.ensembl.org/id/ENSP00000428979.1" } ] } }, { "isoform_ac": "E5RK54-1", "url": "", "sequence": { "sequence": "MRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVT", "length": 49, "header": "tr|E5RK54-1|E5RK54_HUMAN Computationally mapped isoform of Integrin subunit beta 2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44907035, "end_pos": 44903510, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522688.5", "url": "https://www.ensembl.org/id/ENST00000522688.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428125.1", "url": "https://www.ensembl.org/id/ENSP00000428125.1" } ] } }, { "isoform_ac": "E7EVZ9-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRI", "length": 166, "header": "tr|E7EVZ9-1|E7EVZ9_HUMAN Computationally mapped isoform of Integrin beta OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44903366, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523663.5", "url": "https://www.ensembl.org/id/ENST00000523663.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428503.1", "url": "https://www.ensembl.org/id/ENSP00000428503.1" } ] } }, { "isoform_ac": "J3KNI6-1", "url": "", "sequence": { "sequence": "GRLGKDLATGVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYE", "length": 322, "header": "tr|J3KNI6-1|J3KNI6_HUMAN Computationally mapped isoform of Integrin beta OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=1 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910630, "end_pos": 44899067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000320216.10", "url": "https://www.ensembl.org/id/ENST00000320216.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000317697.6", "url": "https://www.ensembl.org/id/ENSP00000317697.6" } ] } }, { "isoform_ac": "P05107-1", "url": "", "sequence": { "sequence": "MLGLRPPLLALVGLLSLGCVLSQECTKFKVSSCRECIESGPGCTWCQKLNFTGPGDPDSIRCDTRPQLLMRGCAADDIMDPTSLAETQEDHNGGQKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLRNVKKLGGDLLRALNEITESGRIGFGSFVDKTVLPFVNTHPDKLRNPCPNKEKECQPPFAFRHVLKLTNNSNQFQTEVGKQLISGNLDAPEGGLDAMMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNLYKRSNEFDYPSVGQLAHKLAENNIQPIFAVTSRMVKTYEKLTEIIPKSAVGELSEDSSNVVHLIKNAYNKLSSRVFLDHNALPDTLKVTYDSFCSNGVTHRNQPRGDCDGVQINVPITFQVKVTATECIQEQSFVIRALGFTDIVTVQVLPQCECRCRDQSRDRSLCHGKGFLECGICRCDTGYIGKNCECQTQGRSSQELEGSCRKDNNSIICSGLGDCVCGQCLCHTSDVPGKLIYGQYCECDTINCERYNGQVCGGPGRGLCFCGKCRCHPGFEGSACQCERTTEGCLNPRRVECSGRGRCRCNVCECHSGYQLPLCQECPGCPSPCGKYISCAECLKFEKGPFGKNCSAACPGLQLSNNPVKGRTCKERDSEGCWVAYTLEQQDGMDRYLIYVDESRECVAGPNIAAIVGGTVAGIVLIGILLLVIWKALIHLSDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 769, "header": "sp|P05107-1|ITB2_HUMAN Isoform 1 of Integrin beta-2 OS=Homo sapiens OX=9606 GN=ITGB2 PE=1 SV=3 CANONICAL=P05107-1" }, "locus": { "chromosome": "21", "start_pos": 44910782, "end_pos": 44886371, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355153.8", "url": "https://www.ensembl.org/id/ENST00000355153.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000347279.4", "url": "https://www.ensembl.org/id/ENSP00000347279.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 116, "start_aa": "Asn", "end_pos": 116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn116", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "20033057", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20033057" }, { "id": "4NEN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4NEN" }, { "id": "24385486", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24385486" }, { "id": "4NEH", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4NEH" }, { "id": "2P26", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2P26" }, { "id": "3K6S", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3K6S" }, { "id": "3K71", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3K71" }, { "id": "3K72", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3K72" }, { "id": "5E6R", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6R" }, { "id": "5E6S", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6S" }, { "id": "5E6U", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6U" }, { "id": "5E6V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6V" }, { "id": "5E6X", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6X" }, { "id": "5ES4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5ES4" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 158, "start_aa": "Asn", "end_pos": 158, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn158", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 212, "start_aa": "Asn", "end_pos": 212, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn212", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 212, "start_aa": "Asn", "end_pos": 212, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn212", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "5E6R", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6R" }, { "id": "5E6S", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6S" }, { "id": "5E6U", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6U" }, { "id": "5ES4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5ES4" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 213, "start_aa": "Asn", "end_pos": 213, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn213", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 215, "start_aa": "Asn", "end_pos": 215, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn215", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 254, "start_aa": "Asn", "end_pos": 254, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn254", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "5ES4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5ES4" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 501, "start_aa": "Asn", "end_pos": 501, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn501", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "2P26", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2P26" }, { "id": "3K72", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3K72" }, { "id": "5E6X", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6X" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 502, "start_aa": "Asn", "end_pos": 502, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn502", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G11629QQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 50, "start_aa": "Asn", "end_pos": 50, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn50", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "2P26", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2P26" }, { "id": "5E6R", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6R" }, { "id": "5E6V", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6V" }, { "id": "5E6X", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5E6X" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 545, "start_aa": "Asn", "end_pos": 545, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn545", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G11870QZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G72735IY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "1415", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1415" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 642, "start_aa": "Asn", "end_pos": 642, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn642", "evidence": [ { "id": "P05107", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "id": "4NEN", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4NEN" }, { "id": "24385486", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24385486" }, { "id": "4NEH", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4NEH" }, { "id": "5ES4", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5ES4" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P05107", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05107" }, { "id": "21300897", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21300897" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 735, "end_pos": 735, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "22990843", "url": "https://glygen.org/publication/PubMed/22990843" } ], "site_lbl": "Tyr735" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Ser745" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "P24723-1", "kinase_gene_name": "PRKCH", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Ser745" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Ser745" }, { "start_pos": 745, "end_pos": 745, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKC", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "phospho.ELM", "id": "P05107", "url": "http://phospho.elm.eu.org/byAccession/P05107.html" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Ser745" }, { "start_pos": 756, "end_pos": 756, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" }, { "database": "phospho.ELM", "id": "P05107", "url": "http://phospho.elm.eu.org/byAccession/P05107.html" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "site_lbl": "Ser756" }, { "start_pos": 758, "end_pos": 758, "kinase_uniprot_canonical_ac": "P05771-1", "kinase_gene_name": "PRKCB", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Thr758" }, { "start_pos": 758, "end_pos": 758, "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Thr758" }, { "start_pos": 758, "end_pos": 758, "kinase_uniprot_canonical_ac": "P24723-1", "kinase_gene_name": "PRKCH", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Thr758" }, { "start_pos": 758, "end_pos": 758, "kinase_uniprot_canonical_ac": "Q05655-1", "kinase_gene_name": "PRKCD", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" }, { "database": "PubMed", "id": "18550856", "url": "https://glygen.org/publication/PubMed/18550856" } ], "site_lbl": "Thr758" }, { "start_pos": 758, "end_pos": 758, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PKC; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "phospho.ELM", "id": "P05107", "url": "http://phospho.elm.eu.org/byAccession/P05107.html" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "12682249", "url": "https://glygen.org/publication/PubMed/12682249" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" }, { "database": "PubMed", "id": "17384276", "url": "https://glygen.org/publication/PubMed/17384276" }, { "database": "PubMed", "id": "16301335", "url": "https://glygen.org/publication/PubMed/16301335" } ], "site_lbl": "Thr758" }, { "start_pos": 759, "end_pos": 759, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "phospho.ELM", "id": "P05107", "url": "http://phospho.elm.eu.org/byAccession/P05107.html" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "12682249", "url": "https://glygen.org/publication/PubMed/12682249" } ], "site_lbl": "Thr759" }, { "start_pos": 760, "end_pos": 760, "kinase_uniprot_canonical_ac": "P17252-1", "kinase_gene_name": "PRKCA", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Thr760" }, { "start_pos": 760, "end_pos": 760, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PKC/PRKCA; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "phospho.ELM", "id": "P05107", "url": "http://phospho.elm.eu.org/byAccession/P05107.html" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ], "site_lbl": "Thr760" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Constitutive activation of Stat3 signaling confers resistance to apoptosis in human U266 myeloma cells.", "journal": "Immunity", "date": "1999", "authors": "Catlett-Falcone R, Landowski TH, Oshiro MM, Turkson J, Levitzki A, Savino R, Ciliberto G, Moscinski L, Fernandez-Luna JL, Nunez G, Dalton WS, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10023775", "url": "https://glygen.org/publication/PubMed/10023775" } ] }, { "title": "Lipopolysaccharide-coated erythrocytes activate human neutrophils via CD14 while subsequent binding is through CD11b/CD18.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Troelstra A, de Graaf-Miltenburg LA, van Bommel T, Verhoef J, Van Kessel KP, Van Strijp JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "10201950", "url": "https://glygen.org/publication/PubMed/10201950" } ] }, { "title": "The integrin alpha9beta1 mediates adhesion to activated endothelial cells and transendothelial neutrophil migration through interaction with vascular cell adhesion molecule-1.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Taooka Y, Chen J, Yednock T, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10209034", "url": "https://glygen.org/publication/PubMed/10209034" } ] }, { "title": "Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface.", "journal": "Cell", "date": "1999", "authors": "Hage T, Sebald W, Reinemer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10219247", "url": "https://glygen.org/publication/PubMed/10219247" } ] }, { "title": "Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain.", "journal": "Experimental cell research", "date": "1999", "authors": "Chen M, O'Toole EA, Li YY, Woodley DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10366422", "url": "https://glygen.org/publication/PubMed/10366422" } ] }, { "title": "Regulation of the germline immunoglobulin Cgamma1 promoter by CD40 ligand and IL-4: dual role for tandem NF-kappaB binding sites.", "journal": "Molecular immunology", "date": "1999", "authors": "Warren WD, Roberts KL, Linehan LA, Berton MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10369418", "url": "https://glygen.org/publication/PubMed/10369418" } ] }, { "title": "The leukocyte integrin alpha D beta 2 binds VCAM-1: evidence for a binding interface between I domain and VCAM-1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Van der Vieren M, Crowe DT, Hoekstra D, Vazeux R, Hoffman PA, Grayson MH, Bochner BS, Gallatin WM, Staunton DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10438935", "url": "https://glygen.org/publication/PubMed/10438935" } ] }, { "title": "Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Falco M, Biassoni R, Bottino C, Vitale M, Sivori S, Augugliaro R, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10499918", "url": "https://glygen.org/publication/PubMed/10499918" } ] }, { "title": "Functional synergism of STAT6 with either NF-kappa B or PU.1 to mediate IL-4-induced activation of IgE germline gene transcription.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Stutz AM, Woisetschlager M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10510379", "url": "https://glygen.org/publication/PubMed/10510379" } ] }, { "title": "Characteristics of fibrinogen binding to the domain of CD11c, an alpha subunit of p150,95.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10543983", "url": "https://glygen.org/publication/PubMed/10543983" } ] }, { "title": "Activation of eotaxin gene transcription by NF-kappa B and STAT6 in human airway epithelial cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Matsukura S, Stellato C, Plitt JR, Bickel C, Miura K, Georas SN, Casolaro V, Schleimer RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10586089", "url": "https://glygen.org/publication/PubMed/10586089" } ] }, { "title": "The integrin alpha(9)beta(1) binds to a novel recognition sequence (SVVYGLR) in the thrombin-cleaved amino-terminal fragment of osteopontin.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yokosaki Y, Matsuura N, Sasaki T, Murakami I, Schneider H, Higashiyama S, Saitoh Y, Yamakido M, Taooka Y, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10593924", "url": "https://glygen.org/publication/PubMed/10593924" } ] }, { "title": "Signaling through platelet integrin alpha IIb beta 3: inside-out, outside-in, and sideways.", "journal": "Thrombosis and haemostasis", "date": "1999", "authors": "Shattil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10605720", "url": "https://glygen.org/publication/PubMed/10605720" } ] }, { "title": "The biology of the 17-1A antigen (Ep-CAM).", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "1999", "authors": "Balzar M, Winter MJ, de Boer CJ, Litvinov SV", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "10606205", "url": "https://glygen.org/publication/PubMed/10606205" } ] }, { "title": "Activation of integrin alpha(V)beta(3) regulates cell adhesion and migration to bone sialoprotein.", "journal": "Experimental cell research", "date": "2000", "authors": "Byzova TV, Kim W, Midura RJ, Plow EF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10640428", "url": "https://glygen.org/publication/PubMed/10640428" } ] }, { "title": "A regulated interaction between alpha5beta1 integrin and osteopontin.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Barry ST, Ludbrook SB, Murrison E, Horgan CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10673366", "url": "https://glygen.org/publication/PubMed/10673366" } ] }, { "title": "Distinct recognition of collagen subtypes by alpha(1)beta(1) and alpha(2)beta(1) integrins. Alpha(1)beta(1) mediates cell adhesion to type XIII collagen.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Nykvist P, Tu H, Ivaska J, Kapyla J, Pihlajaniemi T, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10713152", "url": "https://glygen.org/publication/PubMed/10713152" } ] }, { "title": "The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17.", "journal": "Tissue antigens", "date": "2000", "authors": "Clark GJ, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10746781", "url": "https://glygen.org/publication/PubMed/10746781" } ] }, { "title": "The CD2-subset of the Ig superfamily of cell surface molecules: receptor-ligand pairs expressed by NK cells and other immune cells.", "journal": "Seminars in immunology", "date": "2000", "authors": "Tangye SG, Phillips JH, Lanier LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "10764623", "url": "https://glygen.org/publication/PubMed/10764623" } ] }, { "title": "Integrin LFA-1 interacts with the transcriptional co-activator JAB1 to modulate AP-1 activity.", "journal": "Nature", "date": "2000", "authors": "Bianchi E, Denti S, Granata A, Bossi G, Geginat J, Villa A, Rogge L, Pardi R", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "10766246", "url": "https://glygen.org/publication/PubMed/10766246" } ] }, { "title": "Signal transducer and activator of transcription 3 activates CCAAT enhancer-binding protein delta gene transcription in G0 growth-arrested mouse mammary epithelial cells and in involuting mouse mammary gland.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hutt JA, O'Rourke JP, DeWille J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10867011", "url": "https://glygen.org/publication/PubMed/10867011" } ] }, { "title": "Cell contact-dependent activation of alpha3beta1 integrin modulates endothelial cell responses to thrombospondin-1.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Chandrasekaran L, He CZ, Al-Barazi H, Krutzsch HC, Iruela-Arispe ML, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10982388", "url": "https://glygen.org/publication/PubMed/10982388" } ] }, { "title": "Characterization of IL-4 and IL-13 signals dependent on the human IL-13 receptor alpha chain 1: redundancy of requirement of tyrosine residue for STAT3 activation.", "journal": "International immunology", "date": "2000", "authors": "Umeshita-Suyama R, Sugimoto R, Akaiwa M, Arima K, Yu B, Wada M, Kuwano M, Nakajima K, Hamasaki N, Izuhara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11058569", "url": "https://glygen.org/publication/PubMed/11058569" } ] }, { "title": "A stat-responsive element in the promoter of the episialin/MUC1 gene is involved in its overexpression in carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Gaemers IC, Vos HL, Volders HH, van der Valk SW, Hilkens J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11084045", "url": "https://glygen.org/publication/PubMed/11084045" } ] }, { "title": "Direct regulation of pituitary proopiomelanocortin by STAT3 provides a novel mechanism for immuno-neuroendocrine interfacing.", "journal": "The Journal of clinical investigation", "date": "2000", "authors": "Bousquet C, Zatelli MC, Melmed S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11104795", "url": "https://glygen.org/publication/PubMed/11104795" } ] }, { "title": "Suppression of signal transducer and activator of transcription 3-dependent B lymphocyte terminal differentiation by BCL-6.", "journal": "The Journal of experimental medicine", "date": "2000", "authors": "Reljic R, Wagner SD, Peakman LJ, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11120780", "url": "https://glygen.org/publication/PubMed/11120780" } ] }, { "title": "Interaction of endostatin with integrins implicated in angiogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Rehn M, Veikkola T, Kukk-Valdre E, Nakamura H, Ilmonen M, Lombardo C, Pihlajaniemi T, Alitalo K, Vuori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11158588", "url": "https://glygen.org/publication/PubMed/11158588" } ] }, { "title": "Molecular analysis of neisserial Opa protein interactions with the CEA family of receptors: identification of determinants contributing to the differential specificities of binding.", "journal": "Cellular microbiology", "date": "1999", "authors": "Popp A, Dehio C, Grunert F, Meyer TF, Gray-Owen SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11207550", "url": "https://glygen.org/publication/PubMed/11207550" } ] }, { "title": "Characterization of residues and sequences of the carbohydrate recognition domain required for cell surface localization and ligand binding of human lectin-like oxidized LDL receptor.", "journal": "Journal of cell science", "date": "2001", "authors": "Shi X, Niimi S, Ohtani T, Machida S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11256994", "url": "https://glygen.org/publication/PubMed/11256994" } ] }, { "title": "Identification of NKp80, a novel triggering molecule expressed by human NK cells.", "journal": "European journal of immunology", "date": "2001", "authors": "Vitale M, Falco M, Castriconi R, Parolini S, Zambello R, Semenzato G, Biassoni R, Bottino C, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11265639", "url": "https://glygen.org/publication/PubMed/11265639" } ] }, { "title": "Lipopolysaccharide is in close proximity to each of the proteins in its membrane receptor complex. transfer from CD14 to TLR4 and MD-2.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "da Silva Correia J, Soldau K, Christen U, Tobias PS, Ulevitch RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "11274165", "url": "https://glygen.org/publication/PubMed/11274165" } ] }, { "title": "Thrombin regulates vascular smooth muscle cell growth and heat shock proteins via the JAK-STAT pathway.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Madamanchi NR, Li S, Patterson C, Runge MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278437", "url": "https://glygen.org/publication/PubMed/11278437" } ] }, { "title": "Co-operative effect of c-Src tyrosine kinase and Stat3 in activation of hepatocyte growth factor expression in mammary carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Hung W, Elliott B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11278729", "url": "https://glygen.org/publication/PubMed/11278729" } ] }, { "title": "c-Jun and c-Fos cooperate with STAT3 in IL-6-induced transactivation of the IL-6 respone element (IRE).", "journal": "Cytokine", "date": "2001", "authors": "Schuringa JJ, Timmer H, Luttickhuizen D, Vellenga E, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11356008", "url": "https://glygen.org/publication/PubMed/11356008" } ] }, { "title": "Stat3-mediated Myc expression is required for Src transformation and PDGF-induced mitogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Bowman T, Broome MA, Sinibaldi D, Wharton W, Pledger WJ, Sedivy JM, Irby R, Yeatman T, Courtneidge SA, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11404481", "url": "https://glygen.org/publication/PubMed/11404481" } ] }, { "title": "Cooperation between STAT3 and c-jun suppresses Fas transcription.", "journal": "Molecular cell", "date": "2001", "authors": "Ivanov VN, Bhoumik A, Krasilnikov M, Raz R, Owen-Schaub LB, Levy D, Horvath CM, Ronai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11463377", "url": "https://glygen.org/publication/PubMed/11463377" } ] }, { "title": "NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease.", "journal": "The Journal of experimental medicine", "date": "2001", "authors": "Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11489943", "url": "https://glygen.org/publication/PubMed/11489943" } ] }, { "title": "Structural basis of MHC class I recognition by natural killer cell receptors.", "journal": "Immunological reviews", "date": "2001", "authors": "Sawicki MW, Dimasi N, Natarajan K, Wang J, Margulies DH, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11513152", "url": "https://glygen.org/publication/PubMed/11513152" } ] }, { "title": "alpha11beta1 integrin is a receptor for interstitial collagens involved in cell migration and collagen reorganization on mesenchymal nonmuscle cells.", "journal": "Developmental biology", "date": "2001", "authors": "Tiger CF, Fougerousse F, Grundstrom G, Velling T, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11518510", "url": "https://glygen.org/publication/PubMed/11518510" } ] }, { "title": "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other members of the CMRF-35 family.", "journal": "Tissue antigens", "date": "2001", "authors": "Clark GJ, Cooper B, Fitzpatrick S, Green BJ, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11556966", "url": "https://glygen.org/publication/PubMed/11556966" } ] }, { "title": "CD84 functions as a homophilic adhesion molecule and enhances IFN-gamma secretion: adhesion is mediated by Ig-like domain 1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2001", "authors": "Martin M, Romero X, de la Fuente MA, Tovar V, Zapater N, Esplugues E, Pizcueta P, Bosch J, Engel P", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11564780", "url": "https://glygen.org/publication/PubMed/11564780" } ] }, { "title": "Selective binding of collagen subtypes by integrin alpha 1I, alpha 2I, and alpha 10I domains.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tulla M, Pentikainen OT, Viitasalo T, Kapyla J, Impola U, Nykvist P, Nissinen L, Johnson MS, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11572855", "url": "https://glygen.org/publication/PubMed/11572855" } ] }, { "title": "Phosphorylation of the cytoplasmic domain of the integrin CD18 chain by protein kinase C isoforms in leukocytes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fagerholm S, Morrice N, Gahmberg CG, Cohen P", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ] }, { "title": "Distinct glycoprotein Ib/V/IX and integrin alpha IIbbeta 3-dependent calcium signals cooperatively regulate platelet adhesion under flow.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Nesbitt WS, Kulkarni S, Giuliano S, Goncalves I, Dopheide SM, Yap CL, Harper IS, Salem HH, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11713259", "url": "https://glygen.org/publication/PubMed/11713259" } ] }, { "title": "Expression of Fc alpha/mu receptor by human mesangial cells: a candidate receptor for immune complex deposition in IgA nephropathy.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "McDonald KJ, Cameron AJ, Allen JM, Jardine AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11779189", "url": "https://glygen.org/publication/PubMed/11779189" } ] }, { "title": "A reassessment of the MAdCAM-1 structure and its role in integrin recognition.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2002", "authors": "Dando J, Wilkinson KW, Ortlepp S, King DJ, Brady RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11807247", "url": "https://glygen.org/publication/PubMed/11807247" } ] }, { "title": "JAM-1 is a ligand of the beta(2) integrin LFA-1 involved in transendothelial migration of leukocytes.", "journal": "Nature immunology", "date": "2002", "authors": "Ostermann G, Weber KS, Zernecke A, Schroder A, Weber C", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "11812992", "url": "https://glygen.org/publication/PubMed/11812992" } ] }, { "title": "Inhibition of LFA-1/ICAM-1 and VLA-4/VCAM-1 as a therapeutic approach to inflammation and autoimmune diseases.", "journal": "Medicinal research reviews", "date": "2002", "authors": "Yusuf-Makagiansar H, Anderson ME, Yakovleva TV, Murray JS, Siahaan TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11857637", "url": "https://glygen.org/publication/PubMed/11857637" } ] }, { "title": "Structure and function of major histocompatibility complex (MHC) class I specific receptors expressed on human natural killer (NK) cells.", "journal": "Molecular immunology", "date": "2002", "authors": "Borrego F, Kabat J, Kim DK, Lieto L, Maasho K, Pena J, Solana R, Coligan JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11858820", "url": "https://glygen.org/publication/PubMed/11858820" } ] }, { "title": "KIR: diverse, rapidly evolving receptors of innate and adaptive immunity.", "journal": "Annual review of immunology", "date": "2002", "authors": "Vilches C, Parham P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11861603", "url": "https://glygen.org/publication/PubMed/11861603" } ] }, { "title": "A structural perspective on MHC class I recognition by killer cell immunoglobulin-like receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Boyington JC, Sun PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955593", "url": "https://glygen.org/publication/PubMed/11955593" } ] }, { "title": "Asymmetric ligand recognition by the activating natural killer cell receptor NKG2D, a symmetric homodimer.", "journal": "Molecular immunology", "date": "2002", "authors": "Strong RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955595", "url": "https://glygen.org/publication/PubMed/11955595" } ] }, { "title": "Recognition of immunoglobulins by Fcgamma receptors.", "journal": "Molecular immunology", "date": "2002", "authors": "Radaev S, Sun P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "11955599", "url": "https://glygen.org/publication/PubMed/11955599" } ] }, { "title": "Constitutive Stat3 activity up-regulates VEGF expression and tumor angiogenesis.", "journal": "Oncogene", "date": "2002", "authors": "Niu G, Wright KL, Huang M, Song L, Haura E, Turkson J, Zhang S, Wang T, Sinibaldi D, Coppola D, Heller R, Ellis LM, Karras J, Bromberg J, Pardoll D, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "11960372", "url": "https://glygen.org/publication/PubMed/11960372" } ] }, { "title": "Interactions of thrombospondins with alpha4beta1 integrin and CD47 differentially modulate T cell behavior.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Li Z, Calzada MJ, Sipes JM, Cashel JA, Krutzsch HC, Annis DS, Mosher DF, Roberts DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "11980922", "url": "https://glygen.org/publication/PubMed/11980922" } ] }, { "title": "JAM2 interacts with alpha4beta1. Facilitation by JAM3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Cunningham SA, Rodriguez JM, Arrate MP, Tran TM, Brock TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12070135", "url": "https://glygen.org/publication/PubMed/12070135" } ] }, { "title": "The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1.", "journal": "The Journal of experimental medicine", "date": "2002", "authors": "Santoso S, Sachs UJ, Kroll H, Linder M, Ruf A, Preissner KT, Chavakis T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12208882", "url": "https://glygen.org/publication/PubMed/12208882" } ] }, { "title": "CS1, a novel member of the CD2 family, is homophilic and regulates NK cell function.", "journal": "Molecular immunology", "date": "2002", "authors": "Kumaresan PR, Lai WC, Chuang SS, Bennett M, Mathew PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12213321", "url": "https://glygen.org/publication/PubMed/12213321" } ] }, { "title": "IL-13 signal transduction in human monocytes: phosphorylation of receptor components, association with Jaks, and phosphorylation/activation of Stats.", "journal": "Journal of leukocyte biology", "date": "2002", "authors": "Roy B, Bhattacharjee A, Xu B, Ford D, Maizel AL, Cathcart MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "12223527", "url": "https://glygen.org/publication/PubMed/12223527" } ] }, { "title": "Expression of the suppressor of cytokine signaling-5 (SOCS5) negatively regulates IL-4-dependent STAT6 activation and Th2 differentiation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Seki Y, Hayashi K, Matsumoto A, Seki N, Tsukada J, Ransom J, Naka T, Kishimoto T, Yoshimura A, Kubo M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "12242343", "url": "https://glygen.org/publication/PubMed/12242343" } ] }, { "title": "Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations.", "journal": "Nature medicine", "date": "2003", "authors": "Maier AG, Duraisingh MT, Reeder JC, Patel SS, Kazura JW, Zimmerman PA, Cowman AF", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12469115", "url": "https://glygen.org/publication/PubMed/12469115" } ] }, { "title": "Cutting edge: a novel Toll/IL-1 receptor domain-containing adapter that preferentially activates the IFN-beta promoter in the Toll-like receptor signaling.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Yamamoto M, Sato S, Mori K, Hoshino K, Takeuchi O, Takeda K, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "12471095", "url": "https://glygen.org/publication/PubMed/12471095" } ] }, { "title": "Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.", "journal": "Human genetics", "date": "2003", "authors": "Speckman RA, Wright Daw JA, Helms C, Duan S, Cao L, Taillon-Miller P, Kwok PY, Menter A, Bowcock AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12483297", "url": "https://glygen.org/publication/PubMed/12483297" } ] }, { "title": "alpha 11beta 1 integrin recognizes the GFOGER sequence in interstitial collagens.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Zhang WM, Kapyla J, Puranen JS, Knight CG, Tiger CF, Pentikainen OT, Johnson MS, Farndale RW, Heino J, Gullberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12496264", "url": "https://glygen.org/publication/PubMed/12496264" } ] }, { "title": "Bidirectional integrin alphaIIbbeta3 signalling regulating platelet adhesion under flow: contribution of protein kinase C.", "journal": "The Biochemical journal", "date": "2003", "authors": "Giuliano S, Nesbitt WS, Rooney M, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12585966", "url": "https://glygen.org/publication/PubMed/12585966" } ] }, { "title": "Expression of potential lymphocyte trafficking mediator molecules in the mammary gland.", "journal": "Veterinary research", "date": "2003", "authors": "Nishimura T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "12588680", "url": "https://glygen.org/publication/PubMed/12588680" } ] }, { "title": "Independent and cooperative activation of chromosomal c-fos promoter by STAT3.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Yang E, Lerner L, Besser D, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "12600988", "url": "https://glygen.org/publication/PubMed/12600988" } ] }, { "title": "Threonine phosphorylation sites in the beta 2 and beta 7 leukocyte integrin polypeptides.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Hilden TJ, Valmu L, Karkkainen S, Gahmberg CG", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "12682249", "url": "https://glygen.org/publication/PubMed/12682249" } ] }, { "title": "Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12682293", "url": "https://glygen.org/publication/PubMed/12682293" } ] }, { "title": "MIF signal transduction initiated by binding to CD74.", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Leng L, Metz CN, Fang Y, Xu J, Donnelly S, Baugh J, Delohery T, Chen Y, Mitchell RA, Bucala R", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "12782713", "url": "https://glygen.org/publication/PubMed/12782713" } ] }, { "title": "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by alpha 5 beta 1 and alpha v beta 3 integrins.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Bax DV, Bernard SE, Lomas A, Morgan A, Humphries J, Shuttleworth CA, Humphries MJ, Kielty CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "12807887", "url": "https://glygen.org/publication/PubMed/12807887" } ] }, { "title": "STATs dimerize in the absence of phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Braunstein J, Brutsaert S, Olson R, Schindler C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "12832402", "url": "https://glygen.org/publication/PubMed/12832402" } ] }, { "title": "Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Nelson C, Rabb H, Arnaout MA", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1346613", "url": "https://glygen.org/publication/PubMed/1346613" } ] }, { "title": "Identification of two molecular defects in a child with leukocyte adherence deficiency.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Back AL, Kwok WW, Hickstein DD", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1347532", "url": "https://glygen.org/publication/PubMed/1347532" } ] }, { "title": "Molecular basis for a severe case of leukocyte adhesion deficiency.", "journal": "European journal of immunology", "date": "1992", "authors": "Corbi AL, Vara A, Ursa A, Garcia Rodriguez MC, Fontan G, Sanchez-Madrid F", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1352501", "url": "https://glygen.org/publication/PubMed/1352501" } ] }, { "title": "Structural biology of the cell adhesion protein CD2: from molecular recognition to protein folding and design.", "journal": "Current protein & peptide science", "date": "2003", "authors": "Wilkins AL, Yang W, Yang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "14529530", "url": "https://glygen.org/publication/PubMed/14529530" } ] }, { "title": "TRAM is specifically involved in the Toll-like receptor 4-mediated MyD88-independent signaling pathway.", "journal": "Nature immunology", "date": "2003", "authors": "Yamamoto M, Sato S, Hemmi H, Uematsu S, Hoshino K, Kaisho T, Takeuchi O, Takeda K, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "14556004", "url": "https://glygen.org/publication/PubMed/14556004" } ] }, { "title": "Platelet-monocyte complexes support monocyte adhesion to endothelium by enhancing secondary tethering and cluster formation.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2004", "authors": "da Costa Martins P, van den Berk N, Ulfman LH, Koenderman L, Hordijk PL, Zwaginga JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "14615387", "url": "https://glygen.org/publication/PubMed/14615387" } ] }, { "title": "IL-4 and IL-13 induce SOCS-1 gene expression in A549 cells by three functional STAT6-binding motifs located upstream of the transcription initiation site.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2003", "authors": "Hebenstreit D, Luft P, Schmiedlechner A, Regl G, Frischauf AM, Aberger F, Duschl A, Horejs-Hoeck J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "14634100", "url": "https://glygen.org/publication/PubMed/14634100" } ] }, { "title": "Stat3 enhances vimentin gene expression by binding to the antisilencer element and interacting with the repressor protein, ZBP-89.", "journal": "Oncogene", "date": "2004", "authors": "Wu Y, Diab I, Zhang X, Izmailova ES, Zehner ZE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "14712222", "url": "https://glygen.org/publication/PubMed/14712222" } ] }, { "title": "Signaling by the CD19/CD21 complex on B cells.", "journal": "Current directions in autoimmunity", "date": "2004", "authors": "Carter RH, Barrington RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14719373", "url": "https://glygen.org/publication/PubMed/14719373" } ] }, { "title": "RanBPM is a phosphoprotein that associates with the plasma membrane and interacts with the integrin LFA-1.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Denti S, Sirri A, Cheli A, Rogge L, Innamorati G, Putignano S, Fabbri M, Pardi R, Bianchi E", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "14722085", "url": "https://glygen.org/publication/PubMed/14722085" } ] }, { "title": "Activation of natural killer cells and dendritic cells upon recognition of a novel CD99-like ligand by paired immunoglobulin-like type 2 receptor.", "journal": "The Journal of experimental medicine", "date": "2004", "authors": "Shiratori I, Ogasawara K, Saito T, Lanier LL, Arase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "14970179", "url": "https://glygen.org/publication/PubMed/14970179" } ] }, { "title": "Human lectin-like oxidized low-density lipoprotein receptor-1 functions as a dimer in living cells.", "journal": "DNA and cell biology", "date": "2004", "authors": "Xie Q, Matsunaga S, Niimi S, Ogawa S, Tokuyasu K, Sakakibara Y, Machida S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15000751", "url": "https://glygen.org/publication/PubMed/15000751" } ] }, { "title": "Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155).", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Fuchs A, Cella M, Giurisato E, Shaw AS, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15034010", "url": "https://glygen.org/publication/PubMed/15034010" } ] }, { "title": "Stat3 activation regulates the expression of matrix metalloproteinase-2 and tumor invasion and metastasis.", "journal": "Oncogene", "date": "2004", "authors": "Xie TX, Wei D, Liu M, Gao AC, Ali-Osman F, Sawaya R, Huang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15116091", "url": "https://glygen.org/publication/PubMed/15116091" } ] }, { "title": "Crystal structure of the human T cell receptor CD3 epsilon gamma heterodimer complexed to the therapeutic mAb OKT3.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Kjer-Nielsen L, Dunstone MA, Kostenko L, Ely LK, Beddoe T, Mifsud NA, Purcell AW, Brooks AG, McCluskey J, Rossjohn J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15136729", "url": "https://glygen.org/publication/PubMed/15136729" } ] }, { "title": "OSCAR is an FcRgamma-associated receptor that is expressed by myeloid cells and is involved in antigen presentation and activation of human dendritic cells.", "journal": "Blood", "date": "2004", "authors": "Merck E, Gaillard C, Gorman DM, Montero-Julian F, Durand I, Zurawski SM, Menetrier-Caux C, Carra G, Lebecque S, Trinchieri G, Bates EE", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15155468", "url": "https://glygen.org/publication/PubMed/15155468" } ] }, { "title": "CD200 is a ligand for all members of the CD200R family of immunoregulatory molecules.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Gorczynski R, Chen Z, Kai Y, Lee L, Wong S, Marsden PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15187158", "url": "https://glygen.org/publication/PubMed/15187158" } ] }, { "title": "Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Bix G, Fu J, Gonzalez EM, Macro L, Barker A, Campbell S, Zutter MM, Santoro SA, Kim JK, Hook M, Reed CC, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15240572", "url": "https://glygen.org/publication/PubMed/15240572" } ] }, { "title": "STAT-1 is activated by IL-4 and IL-13 in multiple cell types.", "journal": "Molecular immunology", "date": "2004", "authors": "Wang IM, Lin H, Goldman SJ, Kobayashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15261459", "url": "https://glygen.org/publication/PubMed/15261459" } ] }, { "title": "MD-2: the Toll 'gatekeeper' in endotoxin signalling.", "journal": "Trends in biochemical sciences", "date": "2004", "authors": "Gangloff M, Gay NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "15276183", "url": "https://glygen.org/publication/PubMed/15276183" } ] }, { "title": "The LILR family: modulators of innate and adaptive immune pathways in health and disease.", "journal": "Tissue antigens", "date": "2004", "authors": "Brown D, Trowsdale J, Allen R", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15304001", "url": "https://glygen.org/publication/PubMed/15304001" } ] }, { "title": "Functional assessment of alphaEbeta7/E-cadherin interactions in the steady state postnatal thymus.", "journal": "Clinical & developmental immunology", "date": "2004", "authors": "Prockop SE, Petrie HT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15330449", "url": "https://glygen.org/publication/PubMed/15330449" } ] }, { "title": "Galectin-3 is induced in rheumatoid arthritis synovial fibroblasts after adhesion to cartilage oligomeric matrix protein.", "journal": "Annals of the rheumatic diseases", "date": "2005", "authors": "Neidhart M, Zaucke F, von Knoch R, Jungel A, Michel BA, Gay RE, Gay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15345499", "url": "https://glygen.org/publication/PubMed/15345499" } ] }, { "title": "LFA-1 contributes an early signal for NK cell cytotoxicity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004-09-15", "authors": "Barber Domingo F, Faure Mathias, Long Eric O", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "15356110", "url": "https://glygen.org/publication/PubMed/15356110" } ] }, { "title": "The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kapyla J, Jaalinoja J, Tulla M, Ylostalo J, Nissinen L, Viitasalo T, Vehvilainen P, Marjomaki V, Nykvist P, Saamanen AM, Farndale RW, Birk DE, Ala-Kokko L, Heino J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15383545", "url": "https://glygen.org/publication/PubMed/15383545" } ] }, { "title": "The functional interaction of the beta 2 integrin lymphocyte function-associated antigen-1 with junctional adhesion molecule-A is mediated by the I domain.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Fraemohs L, Koenen RR, Ostermann G, Heinemann B, Weber C", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15528364", "url": "https://glygen.org/publication/PubMed/15528364" } ] }, { "title": "Crystal structure of a human CD3-epsilon/delta dimer in complex with a UCHT1 single-chain antibody fragment.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Arnett KL, Harrison SC, Wiley DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15534202", "url": "https://glygen.org/publication/PubMed/15534202" } ] }, { "title": "The SAP family of adaptors in immune regulation.", "journal": "Seminars in immunology", "date": "2004", "authors": "Latour S, Veillette A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15541655", "url": "https://glygen.org/publication/PubMed/15541655" } ] }, { "title": "The KIR gene family: life in the fast lane of evolution.", "journal": "European journal of immunology", "date": "2005", "authors": "Uhrberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15580655", "url": "https://glygen.org/publication/PubMed/15580655" } ] }, { "title": "STAT6 transcription factor binding sites with mismatches within the canonical 5'-TTC...GAA-3' motif involved in regulation of delta- and mu-opioid receptors.", "journal": "Journal of neurochemistry", "date": "2004", "authors": "Borner C, Woltje M, Hollt V, Kraus J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15584925", "url": "https://glygen.org/publication/PubMed/15584925" } ] }, { "title": "Endotoxin recognition and signal transduction by the TLR4/MD2-complex.", "journal": "Microbes and infection", "date": "2004", "authors": "Fitzgerald KA, Rowe DC, Golenbock DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "15596121", "url": "https://glygen.org/publication/PubMed/15596121" } ] }, { "title": "PVR (CD155) and Nectin-2 (CD112) as ligands of the human DNAM-1 (CD226) activating receptor: involvement in tumor cell lysis.", "journal": "Molecular immunology", "date": "2005", "authors": "Pende D, Bottino C, Castriconi R, Cantoni C, Marcenaro S, Rivera P, Spaggiari GM, Dondero A, Carnemolla B, Reymond N, Mingari MC, Lopez M, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15607800", "url": "https://glygen.org/publication/PubMed/15607800" } ] }, { "title": "Involvement of JAM-A in mononuclear cell recruitment on inflamed or atherosclerotic endothelium: inhibition by soluble JAM-A.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2005", "authors": "Ostermann G, Fraemohs L, Baltus T, Schober A, Lietz M, Zernecke A, Liehn EA, Weber C", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15681301", "url": "https://glygen.org/publication/PubMed/15681301" } ] }, { "title": "Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes.", "journal": "Journal of cell science", "date": "2005", "authors": "Bengtsson T, Aszodi A, Nicolae C, Hunziker EB, Lundgren-Akerlund E, Fassler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15713743", "url": "https://glygen.org/publication/PubMed/15713743" } ] }, { "title": "Integrin alpha8beta1-fibronectin interactions promote cell survival via PI3 kinase pathway.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Farias E, Lu M, Li X, Schnapp LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "15721307", "url": "https://glygen.org/publication/PubMed/15721307" } ] }, { "title": "CD19 function in central and peripheral B-cell development.", "journal": "Immunologic research", "date": "2005", "authors": "Del Nagro CJ, Otero DC, Anzelon AN, Omori SA, Kolla RV, Rickert RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15778510", "url": "https://glygen.org/publication/PubMed/15778510" } ] }, { "title": "Nectin-like protein 2 defines a subset of T-cell zone dendritic cells and is a ligand for class-I-restricted T-cell-associated molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Galibert L, Diemer GS, Liu Z, Johnson RS, Smith JL, Walzer T, Comeau MR, Rauch CT, Wolfson MF, Sorensen RA, Van der Vuurst de Vries AR, Branstetter DG, Koelling RM, Scholler J, Fanslow WC, Baum PR, Derry JM, Yan W", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15781451", "url": "https://glygen.org/publication/PubMed/15781451" } ] }, { "title": "Neutrophil migration across tight junctions is mediated by adhesive interactions between epithelial coxsackie and adenovirus receptor and a junctional adhesion molecule-like protein on neutrophils.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Zen K, Liu Y, McCall IC, Wu T, Lee W, Babbin BA, Nusrat A, Parkos CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15800062", "url": "https://glygen.org/publication/PubMed/15800062" } ] }, { "title": "Aberrant Stat3 signaling by interleukin-4 in malignant glioma cells: involvement of IL-13Ralpha2.", "journal": "Cancer research", "date": "2005", "authors": "Rahaman SO, Vogelbaum MA, Haque SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15805299", "url": "https://glygen.org/publication/PubMed/15805299" } ] }, { "title": "Anti-alpha4 integrin therapy for multiple sclerosis: mechanisms and rationale.", "journal": "Neurology", "date": "2005", "authors": "Rice GP, Hartung HP, Calabresi PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15851719", "url": "https://glygen.org/publication/PubMed/15851719" } ] }, { "title": "Anatomy of CD1-lipid antigen complexes.", "journal": "Nature reviews. Immunology", "date": "2005", "authors": "Moody DB, Zajonc DM, Wilson IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "15864273", "url": "https://glygen.org/publication/PubMed/15864273" } ] }, { "title": "Gene expression alterations of human peripheral blood monocytes induced by medium-term treatment with the TH2-cytokines interleukin-4 and -13.", "journal": "Cytokine", "date": "2005", "authors": "Chaitidis P, O'Donnell V, Kuban RJ, Bermudez-Fajardo A, Ungethuem U, Kuhn H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15869882", "url": "https://glygen.org/publication/PubMed/15869882" } ] }, { "title": "VLA-4-fibronectin interaction is required for the terminal differentiation of human bone marrow cells capable of spontaneous and high rate immunoglobulin secretion.", "journal": "The Journal of experimental medicine", "date": "1992", "authors": "Roldan E, Garcia-Pardo A, Brieva JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "1588291", "url": "https://glygen.org/publication/PubMed/1588291" } ] }, { "title": "Canstatin acts on endothelial and tumor cells via mitochondrial damage initiated through interaction with alphavbeta3 and alphavbeta5 integrins.", "journal": "Cancer research", "date": "2005", "authors": "Magnon C, Galaup A, Mullan B, Rouffiac V, Bouquet C, Bidart JM, Griscelli F, Opolon P, Perricaudet M", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "15899827", "url": "https://glygen.org/publication/PubMed/15899827" } ] }, { "title": "Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Matsuura S, Kishi F, Tsukahara M, Nunoi H, Matsuda I, Kobayashi K, Kajii T", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1590804", "url": "https://glygen.org/publication/PubMed/1590804" } ] }, { "title": "Human erythrocyte glycophorins: protein and gene structure analyses.", "journal": "Transfusion medicine reviews", "date": "1992", "authors": "Cartron JP, Rahuel C", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "1591491", "url": "https://glygen.org/publication/PubMed/1591491" } ] }, { "title": "Nuclear interaction of EGFR and STAT3 in the activation of the iNOS/NO pathway.", "journal": "Cancer cell", "date": "2005", "authors": "Lo HW, Hsu SC, Ali-Seyed M, Gunduz M, Xia W, Wei Y, Bartholomeusz G, Shih JY, Hung MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "15950906", "url": "https://glygen.org/publication/PubMed/15950906" } ] }, { "title": "Critical role of the fifth domain of E-cadherin for heterophilic adhesion with alpha E beta 7, but not for homophilic adhesion.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Shiraishi K, Tsuzaka K, Yoshimoto K, Kumazawa C, Nozaki K, Abe T, Tsubota K, Takeuchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16002701", "url": "https://glygen.org/publication/PubMed/16002701" } ] }, { "title": "Targeting Stat3 blocks both HIF-1 and VEGF expression induced by multiple oncogenic growth signaling pathways.", "journal": "Oncogene", "date": "2005", "authors": "Xu Q, Briggs J, Park S, Niu G, Kortylewski M, Zhang S, Gritsko T, Turkson J, Kay H, Semenza GL, Cheng JQ, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16007214", "url": "https://glygen.org/publication/PubMed/16007214" } ] }, { "title": "Siglecs--the major subfamily of I-type lectins.", "journal": "Glycobiology", "date": "2006", "authors": "Varki A, Angata T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16014749", "url": "https://glygen.org/publication/PubMed/16014749" } ] }, { "title": "STAT3-mediated transcription of Bcl-2, Mcl-1 and c-IAP2 prevents apoptosis in polyamine-depleted cells.", "journal": "The Biochemical journal", "date": "2005", "authors": "Bhattacharya S, Ray RM, Johnson LR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16048438", "url": "https://glygen.org/publication/PubMed/16048438" } ] }, { "title": "Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Chen FH, Thomas AO, Hecht JT, Goldring MB, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16051604", "url": "https://glygen.org/publication/PubMed/16051604" } ] }, { "title": "Heterotypic interaction of CRTAM with Necl2 induces cell adhesion on activated NK cells and CD8+ T cells.", "journal": "International immunology", "date": "2005", "authors": "Arase N, Takeuchi A, Unno M, Hirano S, Yokosuka T, Arase H, Saito T", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16091383", "url": "https://glygen.org/publication/PubMed/16091383" } ] }, { "title": "Role of Stat3 in regulating p53 expression and function.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Niu G, Wright KL, Ma Y, Wright GM, Huang M, Irby R, Briggs J, Karras J, Cress WD, Pardoll D, Jove R, Chen J, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16107692", "url": "https://glygen.org/publication/PubMed/16107692" } ] }, { "title": "HLA class I/NK cell receptor interaction in early human decidua basalis: possible functional consequences.", "journal": "Chemical immunology and allergy", "date": "2005", "authors": "Rabot M, Tabiasco J, Polgar B, Aguerre-Girr M, Berrebi A, Bensussan A, Strbo N, Rukavina D, Le Bouteiller P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16129954", "url": "https://glygen.org/publication/PubMed/16129954" } ] }, { "title": "Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Sudhakar A, Nyberg P, Keshamouni VG, Mannam AP, Li J, Sugimoto H, Cosgrove D, Kalluri R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16151532", "url": "https://glygen.org/publication/PubMed/16151532" } ] }, { "title": "Requirement of STAT3 activation for maximal collagenase-1 (MMP-1) induction by epidermal growth factor and malignant characteristics in T24 bladder cancer cells.", "journal": "Oncogene", "date": "2006", "authors": "Itoh M, Murata T, Suzuki T, Shindoh M, Nakajima K, Imai K, Yoshida K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16205632", "url": "https://glygen.org/publication/PubMed/16205632" } ] }, { "title": "Essential role of STAT3 in cytokine-driven NF-kappaB-mediated serum amyloid A gene expression.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2005", "authors": "Hagihara K, Nishikawa T, Sugamata Y, Song J, Isobe T, Taga T, Yoshizaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16236134", "url": "https://glygen.org/publication/PubMed/16236134" } ] }, { "title": "Integrin alphaDbeta2, an adhesion receptor up-regulated on macrophage foam cells, exhibits multiligand-binding properties.", "journal": "Blood", "date": "2006", "authors": "Yakubenko VP, Yadav SP, Ugarova TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16239428", "url": "https://glygen.org/publication/PubMed/16239428" } ] }, { "title": "beta 1 integrin function in vivo: adhesion, migration and more.", "journal": "Cancer metastasis reviews", "date": "2005", "authors": "Brakebusch C, Fassler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16258728", "url": "https://glygen.org/publication/PubMed/16258728" } ] }, { "title": "Junctional adhesion molecules (JAM)-B and -C contribute to leukocyte extravasation to the skin and mediate cutaneous inflammation.", "journal": "The Journal of investigative dermatology", "date": "2005", "authors": "Ludwig RJ, Zollner TM, Santoso S, Hardt K, Gille J, Baatz H, Johann PS, Pfeffer J, Radeke HH, Schon MP, Kaufmann R, Boehncke WH, Podda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16297198", "url": "https://glygen.org/publication/PubMed/16297198" } ] }, { "title": "Specific integrin alpha and beta chain phosphorylations regulate LFA-1 activation through affinity-dependent and -independent mechanisms.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Fagerholm SC, Hilden TJ, Nurmi SM, Gahmberg CG", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "16301335", "url": "https://glygen.org/publication/PubMed/16301335" } ] }, { "title": "TLR4 mediates human retinal pigment epithelial endotoxin binding and cytokine expression.", "journal": "Investigative ophthalmology & visual science", "date": "2005", "authors": "Elner SG, Petty HR, Elner VM, Yoshida A, Bian ZM, Yang D, Kindzelskii AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "16303959", "url": "https://glygen.org/publication/PubMed/16303959" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Cutting edge: lectin-like transcript-1 is a ligand for the inhibitory human NKR-P1A receptor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Rosen DB, Bettadapura J, Alsharifi M, Mathew PA, Warren HS, Lanier LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16339513", "url": "https://glygen.org/publication/PubMed/16339513" } ] }, { "title": "A study of CD33 (SIGLEC-3) antigen expression and function on activated human T and NK cells: two isoforms of CD33 are generated by alternative splicing.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Hernandez-Caselles T, Martinez-Esparza M, Perez-Oliva AB, Quintanilla-Cecconi AM, Garcia-Alonso A, Alvarez-Lopez DM, Garcia-Penarrubia P", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16380601", "url": "https://glygen.org/publication/PubMed/16380601" } ] }, { "title": "Persistent activation of stat3 signaling induces survivin gene expression and confers resistance to apoptosis in human breast cancer cells.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "2006", "authors": "Gritsko T, Williams A, Turkson J, Kaneko S, Bowman T, Huang M, Nam S, Eweis I, Diaz N, Sullivan D, Yoder S, Enkemann S, Eschrich S, Lee JH, Beam CA, Cheng J, Minton S, Muro-Cacho CA, Jove R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16397018", "url": "https://glygen.org/publication/PubMed/16397018" } ] }, { "title": "SOCS1: a potent and multifaceted regulator of cytokines and cell-mediated inflammation.", "journal": "Tissue antigens", "date": "2006", "authors": "Davey GM, Heath WR, Starr R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16451196", "url": "https://glygen.org/publication/PubMed/16451196" } ] }, { "title": "Endocytic pathways regulate Toll-like receptor 4 signaling and link innate and adaptive immunity.", "journal": "The EMBO journal", "date": "2006", "authors": "Husebye H, Halaas O, Stenmark H, Tunheim G, Sandanger O, Bogen B, Brech A, Latz E, Espevik T", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "16467847", "url": "https://glygen.org/publication/PubMed/16467847" } ] }, { "title": "Cyclin D1 is transcriptionally regulated by and required for transformation by activated signal transducer and activator of transcription 3.", "journal": "Cancer research", "date": "2006", "authors": "Leslie K, Lang C, Devgan G, Azare J, Berishaj M, Gerald W, Kim YB, Paz K, Darnell JE, Albanese C, Sakamaki T, Pestell R, Bromberg J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16510571", "url": "https://glygen.org/publication/PubMed/16510571" } ] }, { "title": "Signaling mechanisms, interaction partners, and target genes of STAT6.", "journal": "Cytokine & growth factor reviews", "date": "2006", "authors": "Hebenstreit D, Wirnsberger G, Horejs-Hoeck J, Duschl A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16540365", "url": "https://glygen.org/publication/PubMed/16540365" } ] }, { "title": "How TCRs bind MHCs, peptides, and coreceptors.", "journal": "Annual review of immunology", "date": "2006", "authors": "Rudolph MG, Stanfield RL, Wilson IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16551255", "url": "https://glygen.org/publication/PubMed/16551255" } ] }, { "title": "CD48 stimulation by 2B4 (CD244)-expressing targets activates human NK cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2006", "authors": "Messmer B, Eissmann P, Stark S, Watzl C", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16585556", "url": "https://glygen.org/publication/PubMed/16585556" } ] }, { "title": "Loss of SOCS3 in T helper cells resulted in reduced immune responses and hyperproduction of interleukin 10 and transforming growth factor-beta 1.", "journal": "The Journal of experimental medicine", "date": "2006", "authors": "Kinjyo I, Inoue H, Hamano S, Fukuyama S, Yoshimura T, Koga K, Takaki H, Himeno K, Takaesu G, Kobayashi T, Yoshimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "16606674", "url": "https://glygen.org/publication/PubMed/16606674" } ] }, { "title": "The SIRP family of receptors and immune regulation.", "journal": "Nature reviews. Immunology", "date": "2006", "authors": "Barclay AN, Brown MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16691243", "url": "https://glygen.org/publication/PubMed/16691243" } ] }, { "title": "Integrin alpha3beta1, a novel receptor for alpha3(IV) noncollagenous domain and a trans-dominant Inhibitor for integrin alphavbeta3.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Borza CM, Pozzi A, Borza DB, Pedchenko V, Hellmark T, Hudson BG, Zent R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16731529", "url": "https://glygen.org/publication/PubMed/16731529" } ] }, { "title": "Structural basis for recognition of MHC and MHC-like ligands by natural killer cell receptors.", "journal": "Seminars in immunology", "date": "2006", "authors": "Deng L, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16737824", "url": "https://glygen.org/publication/PubMed/16737824" } ] }, { "title": "Signalling and functional diversity within the Axl subfamily of receptor tyrosine kinases.", "journal": "Cytokine & growth factor reviews", "date": "2006", "authors": "Hafizi S, Dahlback B", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16737840", "url": "https://glygen.org/publication/PubMed/16737840" } ] }, { "title": "Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.", "journal": "Cell", "date": "2006", "authors": "Kagan JC, Medzhitov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "16751103", "url": "https://glygen.org/publication/PubMed/16751103" } ] }, { "title": "Collagen XVI harbors an integrin alpha1 beta1 recognition site in its C-terminal domains.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Eble JA, Kassner A, Niland S, Morgelin M, Grifka J, Grassel S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16754661", "url": "https://glygen.org/publication/PubMed/16754661" } ] }, { "title": "Collagens are functional, high affinity ligands for the inhibitory immune receptor LAIR-1.", "journal": "The Journal of experimental medicine", "date": "2006", "authors": "Lebbink RJ, de Ruiter T, Adelmeijer J, Brenkman AB, van Helvoort JM, Koch M, Farndale RW, Lisman T, Sonnenberg A, Lenting PJ, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16754721", "url": "https://glygen.org/publication/PubMed/16754721" } ] }, { "title": "Trif-related adapter molecule is phosphorylated by PKC{epsilon} during Toll-like receptor 4 signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "McGettrick AF, Brint EK, Palsson-McDermott EM, Rowe DC, Golenbock DT, Gay NJ, Fitzgerald KA, O'Neill LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "16757566", "url": "https://glygen.org/publication/PubMed/16757566" } ] }, { "title": "Junctional adhesion molecule-A regulates cell migration and resistance to shear stress.", "journal": "Journal of cellular physiology", "date": "2006", "authors": "Huang H, Cruz F, Bazzoni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "16783819", "url": "https://glygen.org/publication/PubMed/16783819" } ] }, { "title": "The gene organisation of the human beta 2 integrin subunit (CD18).", "journal": "FEBS Lett.", "date": "1991", "authors": "Weitzman JB, Wells CE, Wright AH, Clark PA, Law SK", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1683838", "url": "https://glygen.org/publication/PubMed/1683838" } ] }, { "title": "CD40/CD40L dyad in the inflammatory and immune responses in the central nervous system.", "journal": "Cellular & molecular immunology", "date": "2006", "authors": "Chen K, Huang J, Gong W, Zhang L, Yu P, Wang JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16893496", "url": "https://glygen.org/publication/PubMed/16893496" } ] }, { "title": "The role of NK cell recognition of nectin and nectin-like proteins in tumor immunosurveillance.", "journal": "Seminars in cancer biology", "date": "2006", "authors": "Fuchs A, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16904340", "url": "https://glygen.org/publication/PubMed/16904340" } ] }, { "title": "Is the CD200/CD200 receptor interaction more than just a myeloid cell inhibitory signal?", "journal": "Critical reviews in immunology", "date": "2006", "authors": "Minas K, Liversidge J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "16928187", "url": "https://glygen.org/publication/PubMed/16928187" } ] }, { "title": "The synergy site of fibronectin is required for strong interaction with the platelet integrin alphaIIbbeta3.", "journal": "Annals of biomedical engineering", "date": "2006", "authors": "Chada D, Mather T, Nollert MU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "16933105", "url": "https://glygen.org/publication/PubMed/16933105" } ] }, { "title": "Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.", "journal": "The Journal of experimental medicine", "date": "1990", "authors": "Wardlaw AJ, Hibbs ML, Stacker SA, Springer TA", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1694220", "url": "https://glygen.org/publication/PubMed/1694220" } ] }, { "title": "NTB-A receptor crystal structure: insights into homophilic interactions in the signaling lymphocytic activation molecule receptor family.", "journal": "Immunity", "date": "2006", "authors": "Cao E, Ramagopal UA, Fedorov A, Fedorov E, Yan Q, Lary JW, Cole JL, Nathenson SG, Almo SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17045824", "url": "https://glygen.org/publication/PubMed/17045824" } ] }, { "title": "Mutual activation of natural killer cells and monocytes mediated by NKp80-AICL interaction.", "journal": "Nature immunology", "date": "2006", "authors": "Welte S, Kuttruff S, Waldhauer I, Steinle A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17057721", "url": "https://glygen.org/publication/PubMed/17057721" } ] }, { "title": "Gas6 and protein S. Vitamin K-dependent ligands for the Axl receptor tyrosine kinase subfamily.", "journal": "The FEBS journal", "date": "2006", "authors": "Hafizi S, Dahlback B", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17064312", "url": "https://glygen.org/publication/PubMed/17064312" } ] }, { "title": "JAM-C regulates tight junctions and integrin-mediated cell adhesion and migration.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Mandicourt G, Iden S, Ebnet K, Aurrand-Lions M, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17099249", "url": "https://glygen.org/publication/PubMed/17099249" } ] }, { "title": "PECAM-1, a key player in neuroinflammation.", "journal": "European journal of neurology", "date": "2006", "authors": "Kalinowska A, Losy J", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17116209", "url": "https://glygen.org/publication/PubMed/17116209" } ] }, { "title": "GPI-anchored CEA family glycoproteins CEA and CEACAM6 mediate their biological effects through enhanced integrin alpha5beta1-fibronectin interaction.", "journal": "Journal of cellular physiology", "date": "2007", "authors": "Ordonez C, Zhai AB, Camacho-Leal P, Demarte L, Fan MM, Stanners CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17167768", "url": "https://glygen.org/publication/PubMed/17167768" } ] }, { "title": "Impact of salt bridges on the equilibrium binding and adhesion of human CD2 and CD58.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Bayas MV, Kearney A, Avramovic A, van der Merwe PA, Leckband DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17172599", "url": "https://glygen.org/publication/PubMed/17172599" } ] }, { "title": "A soluble form of the MHC class I-specific CD160 receptor is released from human activated NK lymphocytes and inhibits cell-mediated cytotoxicity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Giustiniani J, Marie-Cardine A, Bensussan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17237375", "url": "https://glygen.org/publication/PubMed/17237375" } ] }, { "title": "P-selectin glycoprotein ligand-1 is expressed on endothelial cells and mediates monocyte adhesion to activated endothelium.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2007", "authors": "da Costa Martins P, Garcia-Vallejo JJ, van Thienen JV, Fernandez-Borja M, van Gils JM, Beckers C, Horrevoets AJ, Hordijk PL, Zwaginga JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17322099", "url": "https://glygen.org/publication/PubMed/17322099" } ] }, { "title": "Complement-mediated activation of the adaptive immune responses: role of C3d in linking the innate and adaptive immunity.", "journal": "Immunologic research", "date": "2006", "authors": "Toapanta FR, Ross TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "17337780", "url": "https://glygen.org/publication/PubMed/17337780" } ] }, { "title": "Critical residues of alphaX I-domain recognizing fibrinogen central domain.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Lee JH, Choi J, Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17339034", "url": "https://glygen.org/publication/PubMed/17339034" } ] }, { "title": "Platelets recruit human dendritic cells via Mac-1/JAM-C interaction and modulate dendritic cell function in vitro.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2007", "authors": "Langer HF, Daub K, Braun G, Schonberger T, May AE, Schaller M, Stein GM, Stellos K, Bueltmann A, Siegel-Axel D, Wendel HP, Aebert H, Roecken M, Seizer P, Santoso S, Wesselborg S, Brossart P, Gawaz M", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17379836", "url": "https://glygen.org/publication/PubMed/17379836" } ] }, { "title": "14-3-3 proteins bind both filamin and alphaLbeta2 integrin in activated T cells.", "journal": "Annals of the New York Academy of Sciences", "date": "2006", "authors": "Nurmi SM, Gahmberg CG, Fagerholm SC", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "17384276", "url": "https://glygen.org/publication/PubMed/17384276" } ] }, { "title": "Diverse effects of Stat1 on the regulation of hsp90alpha gene under heat shock.", "journal": "Journal of cellular biochemistry", "date": "2007", "authors": "Chen XS, Zhang Y, Wang JS, Li XY, Cheng XK, Zhang Y, Wu NH, Shen YF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17427945", "url": "https://glygen.org/publication/PubMed/17427945" } ] }, { "title": "Macrophages and dendritic cells use different Axl/Mertk/Tyro3 receptors in clearance of apoptotic cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Seitz HM, Camenisch TD, Lemke G, Earp HS, Matsushima GK", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17442946", "url": "https://glygen.org/publication/PubMed/17442946" } ] }, { "title": "TREM-1 ligand expression on platelets enhances neutrophil activation.", "journal": "Blood", "date": "2007", "authors": "Haselmayer P, Grosse-Hovest L, von Landenberg P, Schild H, Radsak MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17452516", "url": "https://glygen.org/publication/PubMed/17452516" } ] }, { "title": "IL-13 induces expression of CD36 in human monocytes through PPARgamma activation.", "journal": "European journal of immunology", "date": "2007", "authors": "Berry A, Balard P, Coste A, Olagnier D, Lagane C, Authier H, Benoit-Vical F, Lepert JC, Seguela JP, Magnaval JF, Chambon P, Metzger D, Desvergne B, Wahli W, Auwerx J, Pipy B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17458857", "url": "https://glygen.org/publication/PubMed/17458857" } ] }, { "title": "JAM-A mediates neutrophil transmigration in a stimulus-specific manner in vivo: evidence for sequential roles for JAM-A and PECAM-1 in neutrophil transmigration.", "journal": "Blood", "date": "2007", "authors": "Woodfin A, Reichel CA, Khandoga A, Corada M, Voisin MB, Scheiermann C, Haskard DO, Dejana E, Krombach F, Nourshargh S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17505016", "url": "https://glygen.org/publication/PubMed/17505016" } ] }, { "title": "The role of junctional adhesion molecules in vascular inflammation.", "journal": "Nature reviews. Immunology", "date": "2007", "authors": "Weber C, Fraemohs L, Dejana E", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17525755", "url": "https://glygen.org/publication/PubMed/17525755" } ] }, { "title": "Structure of CD84 provides insight into SLAM family function.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Yan Q, Malashkevich VN, Fedorov A, Fedorov E, Cao E, Lary JW, Cole JL, Nathenson SG, Almo SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17563375", "url": "https://glygen.org/publication/PubMed/17563375" } ] }, { "title": "Fra-1 and Stat3 synergistically regulate activation of human MMP-9 gene.", "journal": "Molecular immunology", "date": "2008", "authors": "Song Y, Qian L, Song S, Chen L, Zhang Y, Yuan G, Zhang H, Xia Q, Hu M, Yu M, Shi M, Jiang Z, Guo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "17572495", "url": "https://glygen.org/publication/PubMed/17572495" } ] }, { "title": "The neutrophil-specific antigen CD177 is a counter-receptor for platelet endothelial cell adhesion molecule-1 (CD31).", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Sachs UJ, Andrei-Selmer CL, Maniar A, Weiss T, Paddock C, Orlova VV, Choi EY, Newman PJ, Preissner KT, Chavakis T, Santoso S", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17580308", "url": "https://glygen.org/publication/PubMed/17580308" } ] }, { "title": "Epithelial cell adhesion molecule: more than a carcinoma marker and adhesion molecule.", "journal": "The American journal of pathology", "date": "2007", "authors": "Trzpis M, McLaughlin PM, de Leij LM, Harmsen MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17600130", "url": "https://glygen.org/publication/PubMed/17600130" } ] }, { "title": "JAM family and related proteins in leukocyte migration (Vestweber series).", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2007", "authors": "Bradfield PF, Nourshargh S, Aurrand-Lions M, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17615384", "url": "https://glygen.org/publication/PubMed/17615384" } ] }, { "title": "JAM-C regulates unidirectional monocyte transendothelial migration in inflammation.", "journal": "Blood", "date": "2007", "authors": "Bradfield PF, Scheiermann C, Nourshargh S, Ody C, Luscinskas FW, Rainger GE, Nash GB, Miljkovic-Licina M, Aurrand-Lions M, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "17625065", "url": "https://glygen.org/publication/PubMed/17625065" } ] }, { "title": "Involvement of alpha(v)beta3 integrins in osteoclast function.", "journal": "Journal of bone and mineral metabolism", "date": "2007", "authors": "Nakamura I, Duong LT, Rodan SB, Rodan GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "17968485", "url": "https://glygen.org/publication/PubMed/17968485" } ] }, { "title": "Homotypic interactions mediated by Slamf1 and Slamf6 receptors control NKT cell lineage development.", "journal": "Immunity", "date": "2007", "authors": "Griewank K, Borowski C, Rietdijk S, Wang N, Julien A, Wei DG, Mamchak AA, Terhorst C, Bendelac A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18031695", "url": "https://glygen.org/publication/PubMed/18031695" } ] }, { "title": "CD1 antigen presentation: how it works.", "journal": "Nature reviews. Immunology", "date": "2007", "authors": "Barral DC, Brenner MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18037897", "url": "https://glygen.org/publication/PubMed/18037897" } ] }, { "title": "Human leukocyte antigen-B-associated transcript 3 is released from tumor cells and engages the NKp30 receptor on natural killer cells.", "journal": "Immunity", "date": "2007", "authors": "Pogge von Strandmann E, Simhadri VR, von Tresckow B, Sasse S, Reiners KS, Hansen HP, Rothe A, Boll B, Simhadri VL, Borchmann P, McKinnon PJ, Hallek M, Engert A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18055229", "url": "https://glygen.org/publication/PubMed/18055229" } ] }, { "title": "The soluble leukocyte-associated Ig-like receptor (LAIR)-2 antagonizes the collagen/LAIR-1 inhibitory immune interaction.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2008", "authors": "Lebbink RJ, van den Berg MC, de Ruiter T, Raynal N, van Roon JA, Lenting PJ, Jin B, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18209062", "url": "https://glygen.org/publication/PubMed/18209062" } ] }, { "title": "Roles for LPS-dependent interaction and relocation of TLR4 and TRAM in TRIF-signaling.", "journal": "Biochemical and biophysical research communications", "date": "2008", "authors": "Tanimura N, Saitoh S, Matsumoto F, Akashi-Takamura S, Miyake K", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "18222170", "url": "https://glygen.org/publication/PubMed/18222170" } ] }, { "title": "Peptidoglycan and lipopolysaccharide activate PLCgamma2, leading to enhanced cytokine production in macrophages and dendritic cells.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2008", "authors": "Aki D, Minoda Y, Yoshida H, Watanabe S, Yoshida R, Takaesu G, Chinen T, Inaba T, Hikida M, Kurosaki T, Saeki K, Yoshimura A", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "18233961", "url": "https://glygen.org/publication/PubMed/18233961" } ] }, { "title": "Biophysical characterization of O-glycosylated CD99 recognition by paired Ig-like type 2 receptors.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tabata S, Kuroki K, Wang J, Kajikawa M, Shiratori I, Kohda D, Arase H, Maenaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18234675", "url": "https://glygen.org/publication/PubMed/18234675" } ] }, { "title": "Molecular and structural basis of cytokine receptor pleiotropy in the interleukin-4/13 system.", "journal": "Cell", "date": "2008", "authors": "LaPorte SL, Juo ZS, Vaclavikova J, Colf LA, Qi X, Heller NM, Keegan AD, Garcia KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "18243101", "url": "https://glygen.org/publication/PubMed/18243101" } ] }, { "title": "TRAM couples endocytosis of Toll-like receptor 4 to the induction of interferon-beta.", "journal": "Nature immunology", "date": "2008", "authors": "Kagan JC, Su T, Horng T, Chow A, Akira S, Medzhitov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "18297073", "url": "https://glygen.org/publication/PubMed/18297073" } ] }, { "title": "Twist is transcriptionally induced by activation of STAT3 and mediates STAT3 oncogenic function.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Cheng GZ, Zhang WZ, Sun M, Wang Q, Coppola D, Mansour M, Xu LM, Costanzo C, Cheng JQ, Wang LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "18353781", "url": "https://glygen.org/publication/PubMed/18353781" } ] }, { "title": "Regulation of Sox2 by STAT3 initiates commitment to the neural precursor cell fate.", "journal": "Stem cells and development", "date": "2008", "authors": "Foshay KM, Gallicano GI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "18447642", "url": "https://glygen.org/publication/PubMed/18447642" } ] }, { "title": "Beta2 integrin phosphorylation on Thr758 acts as a molecular switch to regulate 14-3-3 and filamin binding.", "journal": "Blood", "date": "2008", "authors": "Takala H, Nurminen E, Nurmi SM, Aatonen M, Strandin T, Takatalo M, Kiema T, Gahmberg CG, Ylanne J, Fagerholm SC", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "18550856", "url": "https://glygen.org/publication/PubMed/18550856" } ] }, { "title": "Nonmuscle myosin light-chain kinase mediates neutrophil transmigration in sepsis-induced lung inflammation by activating beta2 integrins.", "journal": "Nature immunology", "date": "2008", "authors": "Xu J, Gao XP, Ramchandran R, Zhao YY, Vogel SM, Malik AB", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "18587400", "url": "https://glygen.org/publication/PubMed/18587400" } ] }, { "title": "Structural and functional aspects of lipid binding by CD1 molecules.", "journal": "Annual review of cell and developmental biology", "date": "2008", "authors": "Silk JD, Salio M, Brown J, Jones EY, Cerundolo V", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "18593354", "url": "https://glygen.org/publication/PubMed/18593354" } ] }, { "title": "Signal transducer and activator of transcription 3 is required for hypoxia-inducible factor-1alpha RNA expression in both tumor cells and tumor-associated myeloid cells.", "journal": "Molecular cancer research : MCR", "date": "2008", "authors": "Niu G, Briggs J, Deng J, Ma Y, Lee H, Kortylewski M, Kujawski M, Kay H, Cress WD, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "18644974", "url": "https://glygen.org/publication/PubMed/18644974" } ] }, { "title": "Mechanism of interferon-gamma mediated down-regulation of interleukin-10 gene expression.", "journal": "Molecular immunology", "date": "2009", "authors": "Schaefer A, Unterberger C, Frankenberger M, Lohrum M, Staples KJ, Werner T, Stunnenberg H, Ziegler-Heitbrock L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "19124156", "url": "https://glygen.org/publication/PubMed/19124156" } ] }, { "title": "Triggering Receptor Expressed on Myeloid Cells (TREM) family and the application of its antagonists.", "journal": "Recent patents on anti-infective drug discovery", "date": "2009", "authors": "Molloy EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19149696", "url": "https://glygen.org/publication/PubMed/19149696" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Regulation of the IL-23 and IL-12 balance by Stat3 signaling in the tumor microenvironment.", "journal": "Cancer cell", "date": "2009", "authors": "Kortylewski M, Xin H, Kujawski M, Lee H, Liu Y, Harris T, Drake C, Pardoll D, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "19185846", "url": "https://glygen.org/publication/PubMed/19185846" } ] }, { "title": "Glycophorin B is the erythrocyte receptor of Plasmodium falciparum erythrocyte-binding ligand, EBL-1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Mayer DC, Cofie J, Jiang L, Hartl DL, Tracy E, Kabat J, Mendoza LH, Miller LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "19279206", "url": "https://glygen.org/publication/PubMed/19279206" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "The CD300 family of molecules are evolutionarily significant regulators of leukocyte functions.", "journal": "Trends in immunology", "date": "2009", "authors": "Clark GJ, Ju X, Tate C, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19359216", "url": "https://glygen.org/publication/PubMed/19359216" } ] }, { "title": "The RhoU/Wrch1 Rho GTPase gene is a common transcriptional target of both the gp130/STAT3 and Wnt-1 pathways.", "journal": "The Biochemical journal", "date": "2009", "authors": "Schiavone D, Dewilde S, Vallania F, Turkson J, Di Cunto F, Poli V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "19397496", "url": "https://glygen.org/publication/PubMed/19397496" } ] }, { "title": "Molecular interplay between endostatin, integrins, and heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Faye C, Moreau C, Chautard E, Jetne R, Fukai N, Ruggiero F, Humphries MJ, Olsen BR, Ricard-Blum S", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "19502598", "url": "https://glygen.org/publication/PubMed/19502598" } ] }, { "title": "The CD300 molecules regulate monocyte and dendritic cell functions.", "journal": "Immunobiology", "date": "2009", "authors": "Clark GJ, Ju X, Azlan M, Tate C, Ding Y, Hart DN", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "19592130", "url": "https://glygen.org/publication/PubMed/19592130" } ] }, { "title": "Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Arnaout MA, Dana N, Gupta SK, Tenen DG, Fathallah DM", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "1968911", "url": "https://glygen.org/publication/PubMed/1968911" } ] }, { "title": "Identification and characterization of multiple similar ligand-binding repeats in filamin: implication on filamin-mediated receptor clustering and cross-talk.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Ithychanda Sujay Subbayya, Hsu Dennis, Li Hanhan, Yan Linda, Liu David D, Liu Darwen, Das Mitali, Plow Edward F, Qin Jun", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "19828450", "url": "https://glygen.org/publication/PubMed/19828450" } ] }, { "title": "Structure of an integrin with an alphaI domain, complement receptor type 4.", "journal": "The EMBO journal", "date": "2010", "authors": "Xie C, Zhu J, Chen X, Mi L, Nishida N, Springer TA", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "20033057", "url": "https://glygen.org/publication/PubMed/20033057" } ] }, { "title": "Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.", "journal": "Molecular and cellular biochemistry", "date": "2010", "authors": "Rock MJ, Holden P, Horton WA, Cohn DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20033473", "url": "https://glygen.org/publication/PubMed/20033473" } ] }, { "title": "Thrombospondin-induced adhesion of human platelets.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Tuszynski GP, Kowalska MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "2010551", "url": "https://glygen.org/publication/PubMed/2010551" } ] }, { "title": "Diverse targets of the transcription factor STAT3 contribute to T cell pathogenicity and homeostasis.", "journal": "Immunity", "date": "2010", "authors": "Durant L, Watford WT, Ramos HL, Laurence A, Vahedi G, Wei L, Takahashi H, Sun HW, Kanno Y, Powrie F, O'Shea JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "20493732", "url": "https://glygen.org/publication/PubMed/20493732" } ] }, { "title": "A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.", "journal": "Chinese medical journal", "date": "2010", "authors": "Li L, Jin YY, Cao RM, Chen TX", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "20529581", "url": "https://glygen.org/publication/PubMed/20529581" } ] }, { "title": "Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.", "journal": "Journal of clinical immunology", "date": "2010", "authors": "Parvaneh N, Mamishi S, Rezaei A, Rezaei N, Tamizifar B, Parvaneh L, Sherkat R, Ghalehbaghi B, Kashef S, Chavoshzadeh Z, Isaeian A, Ashrafi F, Aghamohammadi A", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "20549317", "url": "https://glygen.org/publication/PubMed/20549317" } ] }, { "title": "Lumican inhibits cell migration through alpha2beta1 integrin.", "journal": "Experimental cell research", "date": "2010", "authors": "Zeltz C, Brezillon S, Kapyla J, Eble JA, Bobichon H, Terryn C, Perreau C, Franz CM, Heino J, Maquart FX, Wegrowski Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "20705068", "url": "https://glygen.org/publication/PubMed/20705068" } ] }, { "title": "Efficient inhibition of collagen-induced platelet activation and adhesion by LAIR-2, a soluble Ig-like receptor family member.", "journal": "PloS one", "date": "2010", "authors": "Lenting PJ, Westerlaken GH, Denis CV, Akkerman JW, Meyaard L", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "20730098", "url": "https://glygen.org/publication/PubMed/20730098" } ] }, { "title": "STAT3-induced S1PR1 expression is crucial for persistent STAT3 activation in tumors.", "journal": "Nature medicine", "date": "2010", "authors": "Lee H, Deng J, Kujawski M, Yang C, Liu Y, Herrmann A, Kortylewski M, Horne D, Somlo G, Forman S, Jove R, Yu H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21102457", "url": "https://glygen.org/publication/PubMed/21102457" } ] }, { "title": "Complement receptor Mac-1 is an adaptor for NB1 (CD177)-mediated PR3-ANCA neutrophil activation.", "journal": "The Journal of biological chemistry", "date": "2011-03-04", "authors": "Jerke Uwe, Rolle Susanne, Dittmar Gunnar, Bayat Behnaz, Santoso Sentot, Sporbert Anje, Luft Friedrich, Kettritz Ralph", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "21193407", "url": "https://glygen.org/publication/PubMed/21193407" } ] }, { "title": "Pregnancy-specific glycoprotein 1 induces endothelial tubulogenesis through interaction with cell surface proteoglycans.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Lisboa FA, Warren J, Sulkowski G, Aparicio M, David G, Zudaire E, Dveksler GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "21193412", "url": "https://glygen.org/publication/PubMed/21193412" } ] }, { "title": "PANP is a novel O-glycosylated PILRalpha ligand expressed in neural tissues.", "journal": "Biochemical and biophysical research communications", "date": "2011", "authors": "Kogure A, Shiratori I, Wang J, Lanier LL, Arase H", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21241660", "url": "https://glygen.org/publication/PubMed/21241660" } ] }, { "title": "alphaMbeta(2) integrin activation prevents alternative activation of human and murine macrophages and impedes foam cell formation.", "journal": "Circulation research", "date": "2011", "authors": "Yakubenko VP, Bhattacharjee A, Pluskota E, Cathcart MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21252155", "url": "https://glygen.org/publication/PubMed/21252155" } ] }, { "title": "Metabolic cross-talk allows labeling of O-linked beta-N-acetylglucosamine-modified proteins via the N-acetylgalactosamine salvage pathway.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Boyce M, Carrico IS, Ganguli AS, Yu SH, Hangauer MJ, Hubbard SC, Kohler JJ, Bertozzi CR", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05107", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05107" } ], "reference": [ { "type": "PubMed", "id": "21300897", "url": "https://glygen.org/publication/PubMed/21300897" } ] }, { "title": "Analysis of glycoprotein E-selectin ligands on human and mouse marrow cells enriched for hematopoietic stem/progenitor cells.", "journal": "Blood", "date": "2011", "authors": "Merzaban JS, Burdick MM, Gadhoum SZ, Dagia NM, Chu JT, Fuhlbrigge RC, Sackstein R", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "21659548", "url": "https://glygen.org/publication/PubMed/21659548" } ] }, { "title": "TRIM8 regulates Nanog via Hsp90beta-mediated nuclear translocation of STAT3 in embryonic stem cells.", "journal": "Biochimica et biophysica acta", "date": "2011", "authors": "Okumura F, Okumura AJ, Matsumoto M, Nakayama KI, Hatakeyama S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21689689", "url": "https://glygen.org/publication/PubMed/21689689" } ] }, { "title": "STAT3 protein promotes T-cell survival and inhibits interleukin-2 production through up-regulation of Class O Forkhead transcription factors.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Oh HM, Yu CR, Golestaneh N, Amadi-Obi A, Lee YS, Eseonu A, Mahdi RM, Egwuagu CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21730069", "url": "https://glygen.org/publication/PubMed/21730069" } ] }, { "title": "Specific lipid recognition is a general feature of CD300 and TREM molecules.", "journal": "Immunogenetics", "date": "2012", "authors": "Cannon JP, O'Driscoll M, Litman GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21800138", "url": "https://glygen.org/publication/PubMed/21800138" } ] }, { "title": "OSCAR is a collagen receptor that costimulates osteoclastogenesis in DAP12-deficient humans and mice.", "journal": "The Journal of clinical investigation", "date": "2011", "authors": "Barrow AD, Raynal N, Andersen TL, Slatter DA, Bihan D, Pugh N, Cella M, Kim T, Rho J, Negishi-Koga T, Delaisse JM, Takayanagi H, Lorenzo J, Colonna M, Farndale RW, Choi Y, Trowsdale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21841309", "url": "https://glygen.org/publication/PubMed/21841309" } ] }, { "title": "B7-H6/NKp30 interaction: a mechanism of alerting NK cells against tumors.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2011", "authors": "Kaifu T, Escaliere B, Gastinel LN, Vivier E, Baratin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "21877119", "url": "https://glygen.org/publication/PubMed/21877119" } ] }, { "title": "Signal transducers and activators of transcription 3 (STAT3) directly regulates cytokine-induced fascin expression and is required for breast cancer cell migration.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Snyder M, Huang XY, Zhang JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21937440", "url": "https://glygen.org/publication/PubMed/21937440" } ] }, { "title": "Cytokine induction of tumor necrosis factor receptor 2 is mediated by STAT3 in colon cancer cells.", "journal": "Molecular cancer research : MCR", "date": "2011", "authors": "Hamilton KE, Simmons JG, Ding S, Van Landeghem L, Lund PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "21994466", "url": "https://glygen.org/publication/PubMed/21994466" } ] }, { "title": "Necdin, a negative growth regulator, is a novel STAT3 target gene down-regulated in human cancer.", "journal": "PloS one", "date": "2011", "authors": "Haviland R, Eschrich S, Bloom G, Ma Y, Minton S, Jove R, Cress WD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "22046235", "url": "https://glygen.org/publication/PubMed/22046235" } ] }, { "title": "CD14 controls the LPS-induced endocytosis of Toll-like receptor 4.", "journal": "Cell", "date": "2011", "authors": "Zanoni I, Ostuni R, Marek LR, Barresi S, Barbalat R, Barton GM, Granucci F, Kagan JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "22078883", "url": "https://glygen.org/publication/PubMed/22078883" } ] }, { "title": "Phospholipase Cgamma-2 and intracellular calcium are required for lipopolysaccharide-induced Toll-like receptor 4 (TLR4) endocytosis and interferon regulatory factor 3 (IRF3) activation.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Chiang CY, Veckman V, Limmer K, David M", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "22158869", "url": "https://glygen.org/publication/PubMed/22158869" } ] }, { "title": "Roles of STAT3 and ZEB1 proteins in E-cadherin down-regulation and human colorectal cancer epithelial-mesenchymal transition.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Xiong H, Hong J, Du W, Lin YW, Ren LL, Wang YC, Su WY, Wang JL, Cui Y, Wang ZH, Fang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "22205702", "url": "https://glygen.org/publication/PubMed/22205702" } ] }, { "title": "The Jak/STAT pathway.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2012", "authors": "Harrison DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "22383755", "url": "https://glygen.org/publication/PubMed/22383755" } ] }, { "title": "Evolutionarily conserved paired immunoglobulin-like receptor alpha (PILRalpha) domain mediates its interaction with diverse sialylated ligands.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Sun Y, Senger K, Baginski TK, Mazloom A, Chinn Y, Pantua H, Hamidzadeh K, Ramani SR, Luis E, Tom I, Sebrell A, Quinones G, Ma Y, Mukhyala K, Sai T, Ding J, Haley B, Shadnia H, Kapadia SB, Gonzalez LC, Hass PE, Zarrin AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "22396535", "url": "https://glygen.org/publication/PubMed/22396535" } ] }, { "title": "Tetrastatin, the NC1 domain of the alpha4(IV) collagen chain: a novel potent anti-tumor matrikine.", "journal": "PloS one", "date": "2012", "authors": "Brassart-Pasco S, Senechal K, Thevenard J, Ramont L, Devy J, Di Stefano L, Dupont-Deshorgue A, Brezillon S, Feru J, Jazeron JF, Diebold MD, Ricard-Blum S, Maquart FX, Monboisse JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22539938", "url": "https://glygen.org/publication/PubMed/22539938" } ] }, { "title": "STAT1 gene expression is enhanced by nuclear EGFR and HER2 via cooperation with STAT3.", "journal": "Molecular carcinogenesis", "date": "2013", "authors": "Han W, Carpenter RL, Cao X, Lo HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "22693070", "url": "https://glygen.org/publication/PubMed/22693070" } ] }, { "title": "Interleukin-10-induced neutrophil gelatinase-associated lipocalin production in macrophages with consequences for tumor growth.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Jung M, Weigert A, Tausendschon M, Mora J, Oren B, Sola A, Hotter G, Muta T, Brune B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "22851691", "url": "https://glygen.org/publication/PubMed/22851691" } ] }, { "title": "Target-derived matricryptins organize cerebellar synapse formation through alpha3beta1 integrins.", "journal": "Cell reports", "date": "2012", "authors": "Su J, Stenbjorn RS, Gorse K, Su K, Hauser KF, Ricard-Blum S, Pihlajaniemi T, Fox MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "22884367", "url": "https://glygen.org/publication/PubMed/22884367" } ] }, { "title": "Glutamate induces neutrophil cell migration by activating class I metabotropic glutamate receptors.", "journal": "Amino acids", "date": "2013-02", "authors": "Gupta Rahul, Palchaudhuri Santanu, Chattopadhyay Dhrubajyoti", "evidence": [ { "database": "iPTMnet", "id": "P05107", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05107" } ], "reference": [ { "type": "PubMed", "id": "22990843", "url": "https://glygen.org/publication/PubMed/22990843" } ] }, { "title": "STAT1 activation by venous malformations mutant Tie2-R849W antagonizes VEGF-A-mediated angiogenic response partly via reduced bFGF production.", "journal": "Angiogenesis", "date": "2013", "authors": "Huang YH, Wu MP, Pan SC, Su WC, Chen YW, Wu LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23086340", "url": "https://glygen.org/publication/PubMed/23086340" } ] }, { "title": "IL-4 and IL-13 employ discrete signaling pathways for target gene expression in alternatively activated monocytes/macrophages.", "journal": "Free radical biology & medicine", "date": "2013", "authors": "Bhattacharjee A, Shukla M, Yakubenko VP, Mulya A, Kundu S, Cathcart MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23124025", "url": "https://glygen.org/publication/PubMed/23124025" } ] }, { "title": "STAT3 is involved in esophageal carcinogenesis through regulation of Oct-1.", "journal": "Carcinogenesis", "date": "2013", "authors": "Wang Z, Zhu S, Shen M, Liu J, Wang M, Li C, Wang Y, Deng A, Mei Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23172665", "url": "https://glygen.org/publication/PubMed/23172665" } ] }, { "title": "Endorepellin laminin-like globular 1/2 domains bind Ig3-5 of vascular endothelial growth factor (VEGF) receptor 2 and block pro-angiogenic signaling by VEGFA in endothelial cells.", "journal": "The FEBS journal", "date": "2013", "authors": "Willis CD, Poluzzi C, Mongiat M, Iozzo RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "23374253", "url": "https://glygen.org/publication/PubMed/23374253" } ] }, { "title": "Mutant B-RAF-Mcl-1 survival signaling depends on the STAT3 transcription factor.", "journal": "Oncogene", "date": "2014", "authors": "Becker TM, Boyd SC, Mijatov B, Gowrishankar K, Snoyman S, Pupo GM, Scolyer RA, Mann GJ, Kefford RF, Zhang XD, Rizos H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23455323", "url": "https://glygen.org/publication/PubMed/23455323" } ] }, { "title": "Tissue inhibitor of metalloproteinase 1 is preferentially expressed in Th1 and Th17 T-helper cell subsets and is a direct STAT target gene.", "journal": "PloS one", "date": "2013", "authors": "Adamson A, Ghoreschi K, Rittler M, Chen Q, Sun HW, Vahedi G, Kanno Y, Stetler-Stevenson WG, O'Shea JJ, Laurence A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23555662", "url": "https://glygen.org/publication/PubMed/23555662" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "CS1 (SLAMF7) inhibits production of proinflammatory cytokines by activated monocytes.", "journal": "Inflammation research : official journal of the European Histamine Research Society ... [et al.]", "date": "2013", "authors": "Kim JR, Horton NC, Mathew SO, Mathew PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "23695528", "url": "https://glygen.org/publication/PubMed/23695528" } ] }, { "title": "Novel role of ICAM3 and LFA-1 in the clearance of apoptotic neutrophils by human macrophages.", "journal": "Apoptosis : an international journal on programmed cell death", "date": "2013-10", "authors": "Krist\u00f3f Endre, Zahuczky G\u00e1bor, Katona Kl\u00e1ra, Dor\u00f3 Zolt\u00e1n, Nagy \u00c9va, F\u00e9s\u00fcs L\u00e1szl\u00f3", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "23775590", "url": "https://glygen.org/publication/PubMed/23775590" } ] }, { "title": "Genetically coupled receptor-ligand pair NKp80-AICL enables autonomous control of human NK cell responses.", "journal": "Blood", "date": "2013", "authors": "Klimosch SN, Bartel Y, Wiemann S, Steinle A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "23929856", "url": "https://glygen.org/publication/PubMed/23929856" } ] }, { "title": "Pregnancy-specific glycoprotein 1 (PSG1) activates TGF-beta and prevents dextran sodium sulfate (DSS)-induced colitis in mice.", "journal": "Mucosal immunology", "date": "2014", "authors": "Blois SM, Sulkowski G, Tirado-Gonzalez I, Warren J, Freitag N, Klapp BF, Rifkin D, Fuss I, Strober W, Dveksler GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "23945545", "url": "https://glygen.org/publication/PubMed/23945545" } ] }, { "title": "STAT3 regulates MMP3 in heme-induced endothelial cell apoptosis.", "journal": "PloS one", "date": "2013", "authors": "Liu M, Wilson NO, Hibbert JM, Stiles JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "23967200", "url": "https://glygen.org/publication/PubMed/23967200" } ] }, { "title": "Biochemical analysis of the Plasmodium falciparum erythrocyte-binding antigen-175 (EBA175)-glycophorin-A interaction: implications for vaccine design.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Wanaguru M, Crosnier C, Johnson S, Rayner JC, Wright GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "24043627", "url": "https://glygen.org/publication/PubMed/24043627" } ] }, { "title": "The signal transducers Stat1 and Stat3 and their novel target Jmjd3 drive the expression of inflammatory genes in microglia.", "journal": "Journal of molecular medicine (Berlin, Germany)", "date": "2014", "authors": "Przanowski P, Dabrowski M, Ellert-Miklaszewska A, Kloss M, Mieczkowski J, Kaza B, Ronowicz A, Hu F, Piotrowski A, Kettenmann H, Komorowski J, Kaminska B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "24097101", "url": "https://glygen.org/publication/PubMed/24097101" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "BAG-6, a jack of all trades in health and disease.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2014", "authors": "Binici J, Koch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "24305946", "url": "https://glygen.org/publication/PubMed/24305946" } ] }, { "title": "An internal ligand-bound, metastable state of a leukocyte integrin, \u03b1X\u03b22.", "journal": "The Journal of cell biology", "date": "2013-11-25", "authors": "Sen Mehmet, Yuki Koichi, Springer Timothy A", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107#ptm_processing" }, { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "24385486", "url": "https://glygen.org/publication/PubMed/24385486" } ] }, { "title": "CR3 (CD11b/CD18) expresses one binding site for Arg-Gly-Asp-containing peptides and a second site for bacterial lipopolysaccharide.", "journal": "The Journal of experimental medicine", "date": "1989", "authors": "Wright SD, Levin SM, Jong MT, Chad Z, Kabbash LG", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "2462607", "url": "https://glygen.org/publication/PubMed/2462607" } ] }, { "title": "STAT3 Target Genes Relevant to Human Cancers.", "journal": "Cancers", "date": "2014", "authors": "Carpenter RL, Lo HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "24743777", "url": "https://glygen.org/publication/PubMed/24743777" } ] }, { "title": "Dominant negative effects of tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) receptor 4 on TRAIL receptor 1 signaling by formation of heteromeric complexes.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Neumann S, Hasenauer J, Pollak N, Scheurich P", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "24764293", "url": "https://glygen.org/publication/PubMed/24764293" } ] }, { "title": "Lipopolysaccharide (LPS) binding protein opsonizes LPS-bearing particles for recognition by a novel receptor on macrophages.", "journal": "The Journal of experimental medicine", "date": "1989", "authors": "Wright SD, Tobias PS, Ulevitch RJ, Ramos RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "2477488", "url": "https://glygen.org/publication/PubMed/2477488" } ] }, { "title": "Liver is the major source of elevated serum lipocalin-2 levels after bacterial infection or partial hepatectomy: a critical role for IL-6/STAT3.", "journal": "Hepatology (Baltimore, Md.)", "date": "2015", "authors": "Xu MJ, Feng D, Wu H, Wang H, Chan Y, Kolls J, Borregaard N, Porse B, Berger T, Mak TW, Cowland JB, Kong X, Gao B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "25234944", "url": "https://glygen.org/publication/PubMed/25234944" } ] }, { "title": "The roles of protein C and thrombomodulin in the regulation of blood coagulation.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "2538457", "url": "https://glygen.org/publication/PubMed/2538457" } ] }, { "title": "CD1 and mycobacterial lipids activate human T cells.", "journal": "Immunological reviews", "date": "2015", "authors": "Van Rhijn I, Moody DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "25703557", "url": "https://glygen.org/publication/PubMed/25703557" } ] }, { "title": "OSCAR is a receptor for surfactant protein D that activates TNF-alpha release from human CCR2+ inflammatory monocytes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015", "authors": "Barrow AD, Palarasah Y, Bugatti M, Holehouse AS, Byers DE, Holtzman MJ, Vermi W, Skjodt K, Crouch E, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "25716998", "url": "https://glygen.org/publication/PubMed/25716998" } ] }, { "title": "Phosphatase PTPN4 preferentially inhibits TRIF-dependent TLR4 pathway by dephosphorylating TRAM.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015", "authors": "Huai W, Song H, Wang L, Li B, Zhao J, Han L, Gao C, Jiang G, Zhang L, Zhao W", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "25825441", "url": "https://glygen.org/publication/PubMed/25825441" } ] }, { "title": "Activation of human T cells by CD1 and self-lipids.", "journal": "Immunological reviews", "date": "2015", "authors": "de Jong A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "26284469", "url": "https://glygen.org/publication/PubMed/26284469" } ] }, { "title": "Recognition of Microbial Glycolipids by Natural Killer T Cells.", "journal": "Frontiers in immunology", "date": "2015", "authors": "Zajonc DM, Girardi E", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "26300885", "url": "https://glygen.org/publication/PubMed/26300885" } ] }, { "title": "Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.", "journal": "Hum. Immunol.", "date": "2016", "authors": "Yassaee Vahid Reza, Hashemi-Gorji Feyzollah, Boosaliki Sara, Parvaneh Nima", "evidence": [ { "database": "UniProtKB", "id": "E5RHT0", "url": "https://www.uniprot.org/uniprot/E5RHT0" } ], "reference": [ { "type": "PubMed", "id": "26639818", "url": "https://glygen.org/publication/PubMed/26639818" } ] }, { "title": "LFA-1 and Mac-1 integrins bind to the serine/threonine-rich domain of thrombomodulin.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2016", "authors": "Kawamoto Eiji, Okamoto Takayuki, Takagi Yoshimi, Honda Goichi, Suzuki Koji, Imai Hiroshi, Shimaoka Motomu", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "27055590", "url": "https://glygen.org/publication/PubMed/27055590" } ] }, { "title": "CD177 modulates human neutrophil migration through activation-mediated integrin and chemoreceptor regulation.", "journal": "Blood", "date": "2017", "authors": "Bai M, Grieshaber-Bouyer R, Wang J, Schmider AB, Wilson ZS, Zeng L, Halyabar O, Godin MD, Nguyen HN, Levescot A, Cunin P, Lefort CT, Soberman RJ, Nigrovic PA", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "28807980", "url": "https://glygen.org/publication/PubMed/28807980" } ] }, { "title": "Extracellular ISG15 Signals Cytokine Secretion through the LFA-1 Integrin Receptor.", "journal": "Molecular cell", "date": "2017", "authors": "Swaim CD, Scott AF, Canadeo LA, Huibregtse JM", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "29100055", "url": "https://glygen.org/publication/PubMed/29100055" } ] }, { "title": "The primary structure of the beta-subunit of the cell surface adhesion glycoproteins LFA-1, CR3 and p150,95 and its relationship to the fibronectin receptor.", "journal": "The EMBO journal", "date": "1987", "authors": "Law SK, Gagnon J, Hildreth JE, Wells CE, Willis AC, Wong AJ", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "2954816", "url": "https://glygen.org/publication/PubMed/2954816" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1415", "url": "https://glyconnect.expasy.org/browser/proteins/1415" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.", "journal": "Cell", "date": "1987", "authors": "Kishimoto T K, O'Connor K, Lee A, Roberts T M, Springer T A", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "3028646", "url": "https://glygen.org/publication/PubMed/3028646" } ] }, { "title": "Adhesion-promoting receptors on human macrophages recognize Escherichia coli by binding to lipopolysaccharide.", "journal": "The Journal of experimental medicine", "date": "1986", "authors": "Wright SD, Jong MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "3537192", "url": "https://glygen.org/publication/PubMed/3537192" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P05107", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P05107" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Characterization of tumor microenvironment in glioblastoma multiforme identifies ITGB2 as a key immune and stromal related regulator in glial cell types.", "journal": "Computers in biology and medicine", "date": "2023-10", "authors": "Sai Krishna A V S, Ramu Alagammai, Hariharan Srimathangi, Sinha Swati, Donakonda Sainitin", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" } ], "reference": [ { "type": "PubMed", "id": "37660569", "url": "https://glygen.org/publication/PubMed/37660569" } ] }, { "title": "Aminopeptidase N/CD13 Crosslinking Promotes the Activation and Membrane Expression of Integrin CD11b/CD18.", "journal": "Biomolecules", "date": "2023-10-06", "authors": "D\u00edaz-Alvarez Laura, Mart\u00ednez-S\u00e1nchez Mariana Esther, Gray Eleanor, P\u00e9rez-Figueroa Erandi, Ortega Enrique", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" } ], "reference": [ { "type": "PubMed", "id": "37892170", "url": "https://glygen.org/publication/PubMed/37892170" } ] }, { "title": "Identification of an association between coronary heart disease and ITGB2 methylation in peripheral blood by a case-control study.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2024-01-01", "authors": "Zhu Liya, Zhu Chao, Jin Jialie, Wang Jinxin, Zhao Xiaojing, Yang Rongxi", "evidence": [ { "database": "RefSeq", "id": "NP_000202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000202" } ], "reference": [ { "type": "PubMed", "id": "37923103", "url": "https://glygen.org/publication/PubMed/37923103" } ] }, { "title": "Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin.", "journal": "The Journal of clinical investigation", "date": "1979", "authors": "Kisiel W", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "468991", "url": "https://glygen.org/publication/PubMed/468991" } ] }, { "title": "Severe recurrent bacterial infections associated with defective adherence and chemotaxis in two patients with neutrophils deficient in a cell-associated glycoprotein.", "journal": "The Journal of pediatrics", "date": "1982", "authors": "Bowen TJ, Ochs HD, Altman LC, Price TH, Van Epps DE, Brautigan DL, Rosin RE, Perkins WD, Babior BM, Klebanoff SJ, Wedgwood RJ", "evidence": [ { "database": "dbSNP", "id": "rs137852616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852616" } ], "reference": [ { "type": "PubMed", "id": "7143170", "url": "https://glygen.org/publication/PubMed/7143170" } ] }, { "title": "Solid-phase von Willebrand factor contains a conformationally active RGD motif that mediates endothelial cell adhesion through the alpha v beta 3 receptor.", "journal": "Blood", "date": "1993", "authors": "Denis C, Williams JA, Lu X, Meyer D, Baruch D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7505120", "url": "https://glygen.org/publication/PubMed/7505120" } ] }, { "title": "Insight into E-selectin/ligand interaction from the crystal structure and mutagenesis of the lec/EGF domains.", "journal": "Nature", "date": "1994", "authors": "Graves BJ, Crowther RL, Chandran C, Rumberger JM, Li S, Huang KS, Presky DH, Familletti PC, Wolitzky BA, Burns DK", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "7509040", "url": "https://glygen.org/publication/PubMed/7509040" } ] }, { "title": "Familial genetic defect in a case of leukocyte adhesion deficiency.", "journal": "Human mutation", "date": "1993", "authors": "Ohashi Y, Yambe T, Tsuchiya S, Kikuchi H, Konno T", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "7509236", "url": "https://glygen.org/publication/PubMed/7509236" } ] }, { "title": "Interferon activation of the transcription factor Stat91 involves dimerization through SH2-phosphotyrosyl peptide interactions.", "journal": "Cell", "date": "1994", "authors": "Shuai K, Horvath CM, Huang LH, Qureshi SA, Cowburn D, Darnell JE Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7510216", "url": "https://glygen.org/publication/PubMed/7510216" } ] }, { "title": "Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway.", "journal": "Cell", "date": "1994", "authors": "Akira S, Nishio Y, Inoue M, Wang XJ, Wei S, Matsusaka T, Yoshida K, Sudo T, Naruto M, Kishimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7512451", "url": "https://glygen.org/publication/PubMed/7512451" } ] }, { "title": "The P-selectin glycoprotein ligand from human neutrophils displays sialylated, fucosylated, O-linked poly-N-acetyllactosamine.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Moore KL, Eaton SF, Lyons DE, Lichenstein HS, Cummings RD, McEver RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "7521878", "url": "https://glygen.org/publication/PubMed/7521878" } ] }, { "title": "Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Nishimura SL, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7525578", "url": "https://glygen.org/publication/PubMed/7525578" } ] }, { "title": "IL-13 selectively induces vascular cell adhesion molecule-1 expression in human endothelial cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1995", "authors": "Bochner BS, Klunk DA, Sterbinsky SA, Coffman RL, Schleimer RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7529288", "url": "https://glygen.org/publication/PubMed/7529288" } ] }, { "title": "Crystal structure of an integrin-binding fragment of vascular cell adhesion molecule-1 at 1.8 A resolution.", "journal": "Nature", "date": "1995", "authors": "Jones EY, Harlos K, Bottomley MJ, Robinson RC, Driscoll PC, Edwards RM, Clements JM, Dudgeon TJ, Stuart DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "7531291", "url": "https://glygen.org/publication/PubMed/7531291" } ] }, { "title": "The integrin receptor alpha 8 beta 1 mediates interactions of embryonic chick motor and sensory neurons with tenascin-C.", "journal": "Neuron", "date": "1995", "authors": "Varnum-Finney B, Venstrom K, Muller U, Kypta R, Backus C, Chiquet M, Reichardt LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7541634", "url": "https://glygen.org/publication/PubMed/7541634" } ] }, { "title": "CD31/PECAM-1 is a ligand for alpha v beta 3 integrin involved in adhesion of leukocytes to endothelium.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Piali L, Hammel P, Uherek C, Bachmann F, Gisler RH, Dunon D, Imhof BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7542249", "url": "https://glygen.org/publication/PubMed/7542249" } ] }, { "title": "CD1-restricted T cell recognition of microbial lipoglycan antigens.", "journal": "Science (New York, N.Y.)", "date": "1995", "authors": "Sieling PA, Chatterjee D, Porcelli SA, Prigozy TI, Mazzaccaro RJ, Soriano T, Bloom BR, Brenner MB, Kronenberg M, Brennan PJ, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "7542404", "url": "https://glygen.org/publication/PubMed/7542404" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Panetti TS, McKeown-Longo PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "7685013", "url": "https://glygen.org/publication/PubMed/7685013" } ] }, { "title": "A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Back AL, Kerkering M, Baker D, Bauer TR, Embree LJ, Hickstein DD", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "dbSNP", "id": "rs137852616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852616" } ], "reference": [ { "type": "PubMed", "id": "7686755", "url": "https://glygen.org/publication/PubMed/7686755" } ] }, { "title": "Direct evidence of a heterotrimeric complex of human interleukin-4 with its receptors.", "journal": "Protein science : a publication of the Protein Society", "date": "1995", "authors": "Hoffman RC, Castner BJ, Gerhart M, Gibson MG, Rasmussen BD, March CJ, Weatherbee J, Tsang M, Gustchina A, Schalk-Hihi C, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7795521", "url": "https://glygen.org/publication/PubMed/7795521" } ] }, { "title": "Components of a Stat recognition code: evidence for two layers of molecular selectivity.", "journal": "Immunity", "date": "1995", "authors": "Schindler U, Wu P, Rothe M, Brasseur M, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7796300", "url": "https://glygen.org/publication/PubMed/7796300" } ] }, { "title": "Transcriptional regulation of the junB promoter: analysis of STAT-mediated signal transduction.", "journal": "Oncogene", "date": "1995", "authors": "Coffer P, Lutticken C, van Puijenbroek A, Klop-de Jonge M, Horn F, Kruijer W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7898939", "url": "https://glygen.org/publication/PubMed/7898939" } ] }, { "title": "Interleukin 13, an interleukin 4-like cytokine that acts on monocytes and B cells, but not on T cells.", "journal": "Immunology today", "date": "1994", "authors": "Zurawski G, de Vries JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "7907877", "url": "https://glygen.org/publication/PubMed/7907877" } ] }, { "title": "An interleukin-4-induced transcription factor: IL-4 Stat.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Hou J, Schindler U, Henzel WJ, Ho TC, Brasseur M, McKnight SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8085155", "url": "https://glygen.org/publication/PubMed/8085155" } ] }, { "title": "Platelet adhesion to collagen types I through VIII under conditions of stasis and flow is mediated by GPIa/IIa (alpha 2 beta 1-integrin).", "journal": "Blood", "date": "1994", "authors": "Saelman EU, Nieuwenhuis HK, Hese KM, de Groot PG, Heijnen HF, Sage EH, Williams S, McKeown L, Gralnick HR, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8118028", "url": "https://glygen.org/publication/PubMed/8118028" } ] }, { "title": "Ep-CAM: a human epithelial antigen is a homophilic cell-cell adhesion molecule.", "journal": "The Journal of cell biology", "date": "1994", "authors": "Litvinov SV, Velders MP, Bakker HA, Fleuren GJ, Warnaar SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "8163559", "url": "https://glygen.org/publication/PubMed/8163559" } ] }, { "title": "The surrogate light chain in B-cell development.", "journal": "Immunology today", "date": "1993", "authors": "Melchers F, Karasuyama H, Haasner D, Bauer S, Kudo A, Sakaguchi N, Jameson B, Rolink A", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "8166770", "url": "https://glygen.org/publication/PubMed/8166770" } ] }, { "title": "Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "8178173", "url": "https://glygen.org/publication/PubMed/8178173" } ] }, { "title": "The alpha v beta 1 integrin functions as a fibronectin receptor but does not support fibronectin matrix assembly and cell migration on fibronectin.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Zhang Z, Morla AO, Vuori K, Bauer JS, Juliano RL, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "8314844", "url": "https://glygen.org/publication/PubMed/8314844" } ] }, { "title": "Interaction of type IV collagen with the isolated integrins alpha 1 beta 1 and alpha 2 beta 1.", "journal": "European journal of biochemistry", "date": "1993", "authors": "Kern A, Eble J, Golbik R, Kuhn K", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8344274", "url": "https://glygen.org/publication/PubMed/8344274" } ] }, { "title": "Receptor-ligand interaction between CD44 and osteopontin (Eta-1).", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Weber GF, Ashkar S, Glimcher MJ, Cantor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8560266", "url": "https://glygen.org/publication/PubMed/8560266" } ] }, { "title": "Essential role of Stat6 in IL-4 signalling.", "journal": "Nature", "date": "1996", "authors": "Takeda K, Tanaka T, Shi W, Matsumoto M, Minami M, Kashiwamura S, Nakanishi K, Yoshida N, Kishimoto T, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8602263", "url": "https://glygen.org/publication/PubMed/8602263" } ] }, { "title": "STAT3 participates in transcriptional activation of the C-reactive protein gene by interleukin-6.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Zhang D, Sun M, Samols D, Kushner I", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8621622", "url": "https://glygen.org/publication/PubMed/8621622" } ] }, { "title": "Cloning and characterization of a specific interleukin (IL)-13 binding protein structurally related to the IL-5 receptor alpha chain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Caput D, Laurent P, Kaghad M, Lelias JM, Lefort S, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8663118", "url": "https://glygen.org/publication/PubMed/8663118" } ] }, { "title": "The lipopolysaccharide-binding protein is a secretory class 1 acute-phase protein whose gene is transcriptionally activated by APRF/STAT/3 and other cytokine-inducible nuclear proteins.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Schumann RR, Kirschning CJ, Unbehaun A, Aberle HP, Knope HP, Lamping N, Ulevitch RJ, Herrmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8668165", "url": "https://glygen.org/publication/PubMed/8668165" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Global and local determinants for the kinetics of interleukin-4/interleukin-4 receptor alpha chain interaction. A biosensor study employing recombinant interleukin-4-binding protein.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Shen BJ, Hage T, Sebald W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8797861", "url": "https://glygen.org/publication/PubMed/8797861" } ] }, { "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. Roles of the beta subunit extracellular and cytoplasmic domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8798654", "url": "https://glygen.org/publication/PubMed/8798654" } ] }, { "title": "Requirements for interleukin-4-induced gene expression and functional characterization of Stat6.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mikita T, Campbell D, Wu P, Williamson K, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "8816495", "url": "https://glygen.org/publication/PubMed/8816495" } ] }, { "title": "Identification of alpha v beta 3 as a heterotypic ligand for CD31/PECAM-1.", "journal": "Journal of cell science", "date": "1996", "authors": "Buckley CD, Doyonnas R, Newton JP, Blystone SD, Brown EJ, Watt SM, Simmons DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8838667", "url": "https://glygen.org/publication/PubMed/8838667" } ] }, { "title": "Osteopontin N-terminal domain contains a cryptic adhesive sequence recognized by alpha9beta1 integrin.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Smith LL, Cheung HK, Ling LE, Chen J, Sheppard D, Pytela R, Giachelli CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "8910476", "url": "https://glygen.org/publication/PubMed/8910476" } ] }, { "title": "cDNA cloning and chromosomal localization of the human telencephalin and its distinctive interaction with lymphocyte function-associated antigen-1.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Mizuno T, Yoshihara Y, Inazawa J, Kagamiyama H, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "8995416", "url": "https://glygen.org/publication/PubMed/8995416" } ] }, { "title": "Cloning of the human IL-13R alpha1 chain and reconstitution with the IL4R alpha of a functional IL-4/IL-13 receptor complex.", "journal": "FEBS letters", "date": "1997", "authors": "Miloux B, Laurent P, Bonnin O, Lupker J, Caput D, Vita N, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9013879", "url": "https://glygen.org/publication/PubMed/9013879" } ] }, { "title": "An endothelial receptor for oxidized low-density lipoprotein.", "journal": "Nature", "date": "1997", "authors": "Sawamura T, Kume N, Aoyama T, Moriwaki H, Hoshikawa H, Aiba Y, Tanaka T, Miwa S, Katsura Y, Kita T, Masaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9052782", "url": "https://glygen.org/publication/PubMed/9052782" } ] }, { "title": "Differential recognition of members of the carcinoembryonic antigen family by Opa variants of Neisseria gonorrhoeae.", "journal": "Infection and immunity", "date": "1997", "authors": "Bos MP, Grunert F, Belland RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9169774", "url": "https://glygen.org/publication/PubMed/9169774" } ] }, { "title": "An antagonist decoy receptor and a death domain-containing receptor for TRAIL.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Pan G, Ni J, Wei YF, Yu G, Gentz R, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9242610", "url": "https://glygen.org/publication/PubMed/9242610" } ] }, { "title": "The alpha v beta 3 integrin `vitronectin receptor`.", "journal": "The international journal of biochemistry & cell biology", "date": "1997", "authors": "Horton MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9251239", "url": "https://glygen.org/publication/PubMed/9251239" } ] }, { "title": "LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes.", "journal": "Immunity", "date": "1997", "authors": "Meyaard L, Adema GJ, Chang C, Woollatt E, Sutherland GR, Lanier LL, Phillips JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9285412", "url": "https://glygen.org/publication/PubMed/9285412" } ] }, { "title": "A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Tsuji M, Ezumi Y, Arai M, Takayama H", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9295288", "url": "https://glygen.org/publication/PubMed/9295288" } ] }, { "title": "p46, a novel natural killer cell-specific surface molecule that mediates cell activation.", "journal": "The Journal of experimental medicine", "date": "1997", "authors": "Sivori S, Vitale M, Morelli L, Sanseverino L, Augugliaro R, Bottino C, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9314561", "url": "https://glygen.org/publication/PubMed/9314561" } ] }, { "title": "Epithelial cell adhesion molecule (Ep-CAM) modulates cell-cell interactions mediated by classic cadherins.", "journal": "The Journal of cell biology", "date": "1997", "authors": "Litvinov SV, Balzar M, Winter MJ, Bakker HA, Briaire-de Bruijn IH, Prins F, Fleuren GJ, Warnaar SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9382878", "url": "https://glygen.org/publication/PubMed/9382878" } ] }, { "title": "The alphavbeta5 integrin functions as an endocytic receptor for vitronectin.", "journal": "Journal of cell science", "date": "1998", "authors": "Memmo LM, McKeown-Longo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9443892", "url": "https://glygen.org/publication/PubMed/9443892" } ] }, { "title": "Identification of the ligand binding site for the integrin alpha9 beta1 in the third fibronectin type III repeat of tenascin-C.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Yokosaki Y, Matsuura N, Higashiyama S, Murakami I, Obara M, Yamakido M, Shigeto N, Chen J, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9565552", "url": "https://glygen.org/publication/PubMed/9565552" } ] }, { "title": "Mutational analysis of the STAT6 SH2 domain.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Mikita T, Daniel C, Wu P, Schindler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9651359", "url": "https://glygen.org/publication/PubMed/9651359" } ] }, { "title": "LPS-binding proteins and receptors.", "journal": "Journal of leukocyte biology", "date": "1998", "authors": "Fenton MJ, Golenbock DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-166016", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016" } ], "reference": [ { "type": "PubMed", "id": "9665271", "url": "https://glygen.org/publication/PubMed/9665271" } ] }, { "title": "Identification of the lectin-like receptor for oxidized low-density lipoprotein in human macrophages and its potential role as a scavenger receptor.", "journal": "The Biochemical journal", "date": "1998", "authors": "Yoshida H, Kondratenko N, Green S, Steinberg D, Quehenberger O", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9693095", "url": "https://glygen.org/publication/PubMed/9693095" } ] }, { "title": "Structural specializations of immunoglobulin superfamily members for adhesion to integrins and viruses.", "journal": "Immunological reviews", "date": "1998", "authors": "Wang J, Springer TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9700512", "url": "https://glygen.org/publication/PubMed/9700512" } ] }, { "title": "The role of IL-13 and its receptor in allergy and inflammatory responses.", "journal": "The Journal of allergy and clinical immunology", "date": "1998", "authors": "de Vries JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9723655", "url": "https://glygen.org/publication/PubMed/9723655" } ] }, { "title": "Molecular cloning of NKp46: a novel member of the immunoglobulin superfamily involved in triggering of natural cytotoxicity.", "journal": "The Journal of experimental medicine", "date": "1998", "authors": "Pessino A, Sivori S, Bottino C, Malaspina A, Morelli L, Moretta L, Biassoni R, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "9730896", "url": "https://glygen.org/publication/PubMed/9730896" } ] }, { "title": "Interferon-gamma-induced factor binding to the interleukin-4-responsive element of CD23b promoter in human tonsillar mononuclear cells: role in transient up-regulation of the interleukin-4-induced CD23b mRNA.", "journal": "Molecular immunology", "date": "1998", "authors": "Park HJ, So EY, Lee CE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9736340", "url": "https://glygen.org/publication/PubMed/9736340" } ] }, { "title": "Ligand specificity of LOX-1, a novel endothelial receptor for oxidized low density lipoprotein.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1998", "authors": "Moriwaki H, Kume N, Sawamura T, Aoyama T, Hoshikawa H, Ochi H, Nishi E, Masaki T, Kita T", "evidence": [ { "database": "Reactome", "id": "R-HSA-202733", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733" } ], "reference": [ { "type": "PubMed", "id": "9763524", "url": "https://glygen.org/publication/PubMed/9763524" } ] }, { "title": "Induction of 15-lipoxygenase expression by IL-13 requires tyrosine phosphorylation of Jak2 and Tyk2 in human monocytes.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Roy B, Cathcart MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9822675", "url": "https://glygen.org/publication/PubMed/9822675" } ] }, { "title": "Effect of the interaction between fibronectin and VLA-4 on the proliferation of human B cells, especially a novel human B-cell line, OPM-3.", "journal": "British journal of haematology", "date": "1998", "authors": "Yoshida H, Nishiura T, Karasuno T, Matsumura I, Ishikawa J, Yoshimura M, Yokota T, Okajima Y, Ogawa M, Kanakura Y, Tomiyama Y, Matsuzawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "9858236", "url": "https://glygen.org/publication/PubMed/9858236" } ] }, { "title": "STAT3 is required for the gp130-mediated full activation of the c-myc gene.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Kiuchi N, Nakajima K, Ichiba M, Fukada T, Narimatsu M, Mizuno K, Hibi M, Hirano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "9874564", "url": "https://glygen.org/publication/PubMed/9874564" } ] }, { "title": "A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.", "journal": "The Journal of clinical investigation", "date": "1999", "authors": "Hogg N, Stewart MP, Scarth SL, Newton R, Shaw JM, Law SK, Klein N", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "reference": [ { "type": "PubMed", "id": "9884339", "url": "https://glygen.org/publication/PubMed/9884339" } ] } ], "pathway": [ { "id": "hsa:3689", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3689", "resource": "KEGG Pathway" }, { "id": "R-HSA-166016", "name": "Toll Like Receptor 4 (TLR4) Cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166016", "resource": "Reactome", "description": "Toll Like Receptor 4 (TLR4) Cascade" }, { "id": "R-HSA-198933", "name": "Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933", "resource": "Reactome", "description": "Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell" }, { "id": "R-HSA-202733", "name": "Cell surface interactions at the vascular wall", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733", "resource": "Reactome", "description": "Cell surface interactions at the vascular wall" }, { "id": "R-HSA-216083", "name": "Integrin cell surface interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083", "resource": "Reactome", "description": "Integrin cell surface interactions" }, { "id": "R-HSA-6785807", "name": "Interleukin-4 and Interleukin-13 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807", "resource": "Reactome", "description": "Interleukin-4 and Interleukin-13 signaling" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "B2RYB8-1", "protein_name": "Integrin beta", "gene_name": "Itgb2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLGPHTLLLILAGLLFLGSALSEECTKYKVSNCRDCIQSGPGCSWCQKLNFTGPGEPDSLRCDTRAQLLLKGCPADDIMDPKSFADLHPQYQVQRSQLSPQKVTLNLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLNNVKKLGGDLLQALNEITESGRIGFGSFVDKTVLPFVNTHPEKLRNPCPNKEKACQPPFAFRHVLKLTDNSNQFQTEVGKQLISGNLDAPEGGLDAIMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNMYKRSNEFDYPSVGQLAHKLSESNIQPIFAVTKKMVKTYEKLTEIIPKSAVGELSDDSSNVVQLIKKAYYKLSSRVFLDHTTIPDTLKVTYDSFCNNRVSSIGKSRGDCDGVQINNPVTFQVKVTASECIQEQSFVIRALGFTDTVTVQVHPQCECQCRDQSRMRNLCGGKGVMECGICRCESGYIGKNCECQTQGRSSQELEGNCRKDNSSIVCSGLGDCICGQCVCHTSDIPNKVIFGQYCECDNFNCERYDGQVCGGLKRGSCSCGQCNCKEGFEGSACQCQRSTTGCLNARLVECSGRGRCQCNRCICEKGYQPPLCEECPGCPLPCSTYVFCAECLKFDKGPFQKNCSVQCANVTLQTVPFKKKPCKERDSEGCWITYTLQQKDGNAYNIHVDDDRECVKGPNVAAIIGGTVAGVVLIGVLLLVIWKALTHLTDLNEYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 768 }, "evidence": [ { "id": "45931059", "url": "http://www.informatics.jax.org/homology/45931059", "database": "MGI" }, { "id": "45931060", "url": "http://www.informatics.jax.org/homology/45931060", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P11835-1", "protein_name": "Integrin beta-2", "gene_name": "Itgb2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLGLRPSLLLALAGLFFLGSAVSQECTKYKVSSCRDCIQSGPGCSWCQKLNFTGPGEPDSLRCDTRAQLLLKGCPADDIMDPRSIANPEFDQRGQRKQLSPQKVTLYLRPGQAAAFNVTFRRAKGYPIDLYYLMDLSYSMLDDLNNVKKLGGDLLQALNEITESGRIGFGSFVDKTVLPFVNTHPEKLRNPCPNKEKACQPPFAFRHVLKLTDNSNQFQTEVGKQLISGNLDAPEGGLDAIMQVAACPEEIGWRNVTRLLVFATDDGFHFAGDGKLGAILTPNDGRCHLEDNMYKRSNEFDYPSVGQLAHKLSESNIQPIFAVTKKMVKTYEKLTEIIPKSAVGELSDDSSNVVQLIKNAYYKLSSRVFLDHSTLPDTLKVTYDSFCSNGASSIGKSRGDCDGVQINNPVTFQVKVMASECIQEQSFVIRALGFTDTVTVQVRPQCECQCRDQSREQSLCGGKGVMECGICRCESGYIGKNCECQTQGRSSQELERNCRKDNSSIVCSGLGDCICGQCVCHTSDVPNKEIFGQYCECDNVNCERYNSQVCGGSDRGSCNCGKCSCKPGYEGSACQCQRSTTGCLNARLVECSGRGHCQCNRCICDEGYQPPMCEDCPSCGSHCRDNHTSCAECLKFDKGPFEKNCSVQCAGMTLQTIPLKKKPCKERDSEGCWITYTLQQKDGRNIYNIHVEDSLECVKGPNVAAIVGGTVVGVVLIGVLLLVIWKALTHLTDLREYRRFEKEKLKSQWNNDNPLFKSATTTVMNPKFAES", "length": 771 }, "evidence": [ { "id": "45931060", "url": "http://www.informatics.jax.org/homology/45931060", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q3UV74-1", "protein_name": "Integrin beta-2-like protein", "gene_name": "Itgb2l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLGQCTLLPVLAGLLSLESALSQLCTKDNVSTCQDCIRSGPSCAWCQKLNFTGRGEPDSVRCDTPEQLLLKGCTSEYLVDPKSLAESQEDKERDQRQLSPRNVTVFLRPGQAATFKVDFQRTQDNSVDLYFLMGLSGSAQGHLSNVQTLGSDLLKALNEISRSGRIGFGSIVNMTFQHILKLTADSSQFQRELRKQLVSGKLATPKGQLDAVVQVAICLGEIGWRNGTRFLVLVTDNDFHLAKDKTLGTRQNTSDGRCHLDDGMYRSRGEPDYQSVVQLASKLAENNIQPIFVVPSRMVKTYEKLTTFIPKLTIGELSDDSSNVAQLIRNAYSKLSSIVVLNHSTIPSILKVTYDSYCSNGTSNPGKPSGDCSGVQINDQVTFQVNITASECFREQFFFIQALGFMDSVTVRVLPLCECQCQEQSQHHSLCGGKGAMECGICRCNSGYAGKNCECQTQGPSSQDLEGSCRKDNSSIMCSGLGDCICGQCECHTSDIPNKEIYGQYCECNNVNCERYDGQVCGGPERGHCSCGRCFCRYGFVGSACQCRMSTSGCLNNRMVECSGHGRCYCNRCLCDPGYQPPLCEKRPGYFHRCSEYYSCARCLKDNSAIKCRECWNLLFSNTPFSNKTCMTERDSEGCWTTYTLYQPDQSDINSIYIKESLVCAEISNTTILLGVIVGVLLAVIFLLVYCMVYLKGTQKAAKLPRKGGAQSTLAQQPHFQEPHHVEPVWNQERQGTQ", "length": 738 }, "evidence": [ { "id": "45931059", "url": "http://www.informatics.jax.org/homology/45931059", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 34, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of leukocyte adhesion to vascular endothelial cell", "id": "GO:1904996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904996", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell-cell adhesion via plasma-membrane adhesion molecules", "id": "GO:0098742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098742", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "heterotypic cell-cell adhesion", "id": "GO:0034113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034113", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of neutrophil degranulation", "id": "GO:0043315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043315", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "neutrophil migration", "id": "GO:1990266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990266", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "negative regulation of dopamine metabolic process", "id": "GO:0045963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045963", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin-E synthase activity", "id": "GO:2000363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000363", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "leukocyte migration involved in inflammatory response", "id": "GO:0002523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002523", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cellular extravasation", "id": "GO:0045123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045123", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 17, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "specific granule membrane", "id": "GO:0035579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035579", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "tertiary granule membrane", "id": "GO:0070821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070821", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "ficolin-1-rich granule membrane", "id": "GO:0101003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101003", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "integrin complex", "id": "GO:0008305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008305", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "integrin alphaM-beta2 complex", "id": "GO:0034688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034688", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "integrin alphaL-beta2 complex", "id": "GO:0034687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034687", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "integrin alphaX-beta2 complex", "id": "GO:0034689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034689", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 9, "go_terms": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "cell adhesion molecule binding", "id": "GO:0050839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050839", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "complement component C3b binding", "id": "GO:0001851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001851", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "ICAM-3 receptor activity", "id": "GO:0030369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030369", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 116, "end_pos": 118, "annotation": "n_glycosylation_sequon" }, { "start_pos": 212, "end_pos": 214, "annotation": "n_glycosylation_sequon" }, { "start_pos": 254, "end_pos": 256, "annotation": "n_glycosylation_sequon" }, { "start_pos": 501, "end_pos": 503, "annotation": "n_glycosylation_sequon" }, { "start_pos": 50, "end_pos": 52, "annotation": "n_glycosylation_sequon" }, { "start_pos": 642, "end_pos": 644, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Both Ser-745 and Ser-756 become phosphorylated when T-cells are exposed to phorbol esters (PubMed:11700305). Phosphorylation on Thr-758 (but not on Ser-756) allows interaction with 14-3-3 proteins (PubMed:11700305, PubMed:16301335).", "evidence": [ { "database": "UniProtKB", "id": "P05107", "url": "https://www.uniprot.org/uniprot/P05107" }, { "database": "PubMed", "id": "16301335", "url": "https://glygen.org/publication/PubMed/16301335" }, { "database": "PubMed", "id": "11700305", "url": "https://glygen.org/publication/PubMed/11700305" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 50, 116, 158, 212, 213, 215, 254, 501, 502, 545, 642 ], "o_linked_sites": [], "snv_sites": [ 5, 50, 116, 118, 134, 212, 256, 284, 379, 396, 501, 503, 642, 644, 702 ], "glycation_sites": [], "phosphorylation_sites": [ 735, 745, 756, 758, 759, 760 ], "sequon_annotation_sites": [ { "start_pos": 116, "end_pos": 118 }, { "start_pos": 212, "end_pos": 214 }, { "start_pos": 254, "end_pos": 256 }, { "start_pos": 501, "end_pos": 503 }, { "start_pos": 50, "end_pos": 52 }, { "start_pos": 642, "end_pos": 644 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 12 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "n_linked_glycan_sites", "count": 14 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 11 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 11 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 7 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 15 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 350 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }