{ "uniprot_canonical_ac": "O60749-1", "uniprot_ac": "O60749", "uniprot_id": "SNX2_HUMAN", "mass": { "chemical_mass": 58471.0, "monoisotopic_mass": 58471.0 }, "refseq": { "ac": "NP_001265128", "name": "sorting nexin-2 isoform 2", "summary": "This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128" }, "gene_names": [ { "name": "SNX2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60749", "id": "O60749" }, { "name": "SNX2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "id": "NP_001265128" }, { "name": "TRG-9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "id": "NP_001265128" }, { "name": "TRG9", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60749", "id": "O60749" } ], "protein_names": [ { "name": "Sorting nexin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60749" }, { "name": "TRG-9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60749" }, { "name": "Transformation-related gene 9 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60749" }, { "name": "sorting nexin-2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "id": "NP_001265128" }, { "name": "transformation-related gene 9 protein; CTB-36H16.2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "id": "NP_001265128" } ], "function": [ { "annotation": "Host Retromer Protein Sorting Nexin 2 Interacts with Human Respiratory Syncytial Virus Structural Proteins and is Required for Efficient Viral Production. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128" }, { "database": "PubMed", "id": "32994321", "url": "https://glygen.org/publication/PubMed/32994321" } ] }, { "annotation": "Human sorting nexin 2 protein interacts with Influenza A virus PA protein and has a negative regulatory effect on the virus replication.", "evidence": [ { "database": "RefSeq", "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128" }, { "database": "PubMed", "id": "34817777", "url": "https://glygen.org/publication/PubMed/34817777" } ] }, { "annotation": "Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:16179610). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex (PubMed:17101778). The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Required for retrograde endosome-to-TGN transport of TGN38 (PubMed:20138391). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901).", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749#function" }, { "database": "PubMed", "id": "20604901", "url": "https://glygen.org/publication/PubMed/20604901" }, { "database": "PubMed", "id": "23085988", "url": "https://glygen.org/publication/PubMed/23085988" }, { "database": "PubMed", "id": "16179610", "url": "https://glygen.org/publication/PubMed/16179610" }, { "database": "PubMed", "id": "20138391", "url": "https://glygen.org/publication/PubMed/20138391" }, { "database": "PubMed", "id": "17101778", "url": "https://glygen.org/publication/PubMed/17101778" } ] }, { "annotation": "This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1177359651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177359651" }, { "id": "rs1177359651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177359651" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SMS->NMS).", "chr_id": "5", "chr_pos": "122799815", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60749", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60749" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 167, "end_pos": 167, "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 (KTS->NTS).", "chr_id": "5", "chr_pos": "122802124", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K167", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1398549561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398549561" }, { "id": "rs1398549561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398549561" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKS->NKS).", "chr_id": "5", "chr_pos": "122803491", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752143195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752143195" }, { "id": "rs752143195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752143195" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 295, "end_pos": 295, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKM->NKT).", "chr_id": "5", "chr_pos": "122817000", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779012736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779012736" }, { "id": "rs779012736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779012736" }, { "id": "rs779012736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779012736" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 440, "end_pos": 440, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKS).", "chr_id": "5", "chr_pos": "122826155", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs779012736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779012736" }, { "id": "rs779012736", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779012736" }, { "id": "rs779012736", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779012736" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 440, "end_pos": 440, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKP->NKT).", "chr_id": "5", "chr_pos": "122826155", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1033988012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1033988012" }, { "id": "rs1033988012", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1033988012#frequency_tab" }, { "id": "rs1033988012", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1033988012" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 51, "end_pos": 51, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "5", "chr_pos": "122795308", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756473092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756473092" }, { "id": "rs756473092", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756473092" }, { "id": "rs756473092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756473092" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 57, "end_pos": 57, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).", "chr_id": "5", "chr_pos": "122795327", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N57", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 182, "end_pos": 184, "sequence_org": "RRF", "sequence_mut": "AAA", "comment": "Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN.", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "20604901", "url": "https://glygen.org/publication/PubMed/20604901" } ] }, { "start_pos": 211, "end_pos": 211, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes phosphatidylinositol phosphate binding. Abolishes endosomal location.", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "16179610", "url": "https://glygen.org/publication/PubMed/16179610" } ] }, { "start_pos": 426, "end_pos": 426, "sequence_org": "K", "sequence_mut": "A", "comment": "Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN; when associated with A-428.", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "20604901", "url": "https://glygen.org/publication/PubMed/20604901" } ] }, { "start_pos": 428, "end_pos": 428, "sequence_org": "R", "sequence_mut": "A", "comment": "Decreases KALRN-dependent lamellipodium formation; no effect on interaction with KALRN; when associated with A-426.", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "20604901", "url": "https://glygen.org/publication/PubMed/20604901" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "93.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "77.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "96.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "91.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60749", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60749" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60749", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60749" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60749", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60749" } ], "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60749", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60749" } ], "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", 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"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": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "common_name": "Human" } ], "gene": [ { "name": "SNX2", "url": "https://www.uniprot.org/uniprot/O60749", "locus": { "chromosome": "5", "start_pos": 122834543, "end_pos": 122775079, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000205302", "url": "https://www.ensembl.org/id/ENSG00000205302" } ] } } ], "crossref": [ { "id": "ENSG00000205302", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000205302", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60749", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60749", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd07282", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07282", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SNX2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SNX2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6643", "url": "https://www.ncbi.nlm.nih.gov/gene/6643", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11173", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11173", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60749", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60749*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001683", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001683", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005329", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005329", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015404", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015404", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027267", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027267", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037918", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037918", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6643", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6643", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605929", "url": "http://www.omim.org/entry/605929", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60749", "url": "https://www.nextprot.org/entry/NX_O60749", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O60749", "url": "https://oglcnac.org/atlas/detail/O60749", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O60749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60749", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "NWQHAQM", "url": "https://omabrowser.org/oma/group/NWQHAQM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1891044at2759", "url": "http://www.orthodb.org/?query=1891044at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10555", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10555", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10555:SF31", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10555:SF31", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00787", "url": "http://pfam.xfam.org/family/PF00787", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03700", "url": "http://pfam.xfam.org/family/PF03700", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF09325", "url": "http://pfam.xfam.org/family/PF09325", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60749", "url": "https://pharos.nih.gov/targets/O60749", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60749", "url": "http://purl.obolibrary.org/obo/PR_O60749", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RBT1", "url": "https://www.uniprot.org/uniprot/D6RBT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RBT1-1", "url": "https://www.uniprot.org/uniprot/D6RBT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RC15", "url": "https://www.uniprot.org/uniprot/D6RC15", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RC15-1", "url": "https://www.uniprot.org/uniprot/D6RC15-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60749-1", "url": "https://www.uniprot.org/uniprot/O60749-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60749-2", "url": "https://www.uniprot.org/uniprot/O60749-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAEREPPPLGDGKPTDFEDLEDGEDLFTSTVSTLESSPSSPEPASLPAEDISANSNGPKPTEVVLDDDREDLFAEATEEVSLDSPEREPILSSEPSPAVTPVTPTTLIAPRIESKSMSAPVIFDRSREEIEEEANGDIFDIEIGVSDPEKVGDGMNAYMAYRVTTKTSLSMFSKSEFSVKRRFSDFLGLHSKLASKYLHVGYIVPPAPEKSIVGMTKVKVGKEDSSSTEFVEKRRAALERYLQRTVKHPTLLQDPDLRQFLESSELPRAVNTQALSGAGILRMVNKAADAVNKMTIKMNESDAWFEEKQQQFENLDQQLRKLHVSVEALVCHRKELSANTAAFAKSAAMLGNSEDHTALSRALSQLAEVEEKIDQLHQEQAFADFYMFSELLSDYIRLIAAVKGVFDHRMKCWQKWEDAQITLLKKREAEAKMMVANKPDKIQQAKNEIREWEAKVQQGERDFEQISKTIRKEVGRFEKERVKDFKTVIIKYLESLVQTQQQLIKYWEAFLPEAKAIA", "length": 519, "header": "sp|O60749-1|SNX2_HUMAN Isoform 1 of Sorting nexin-2 OS=Homo sapiens OX=9606 GN=SNX2 PE=1 SV=2 CANONICAL=O60749-1" }, "isoforms": [ { "isoform_ac": "D6RBT1-1", "url": "", "sequence": { "sequence": "MAAEREPPPLGDGKPTDFEDLEDGEDLFTSTVSTLESSPSSPEPASLPAEDISANSNGPKPTEVVLDDDREDLFAD", "length": 76, "header": "tr|D6RBT1-1|D6RBT1_HUMAN Computationally mapped isoform of Sorting nexin 2 OS=Homo sapiens OX=9606 GN=SNX2 PE=1 SV=1 CANONICAL=O60749-1" }, "locus": { "chromosome": "5", "start_pos": 122801870, "end_pos": 122775104, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512394.5", "url": "https://www.ensembl.org/id/ENST00000512394.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422560.1", "url": "https://www.ensembl.org/id/ENSP00000422560.1" } ] } }, { "isoform_ac": "D6RC15-1", "url": "", "sequence": { "sequence": "MAAEREPPPLGDGKPTDFEDLEDGEDLFTSTVSTLESSPSSPEPASLPAEDISANSNGPKPTEVVLDDDREDLFAATEEVSLDSPEREPILSSEPSPAVTPVTPTTLIAPRIESKSMSAPVIFDRSREEIEEEANGDIFDIEIGVSDPEKVGDGMNAYMAYRVTTKTSLSMFSKSEFSVKRRFSDFLGLHSKLASKYLHVGYIVPPAPEKSIVGMTKVKVGKEDSSSTEFVEKRRAALERYLQRTVKHPTLLQDPDLRQFLESSE", "length": 265, "header": "tr|D6RC15-1|D6RC15_HUMAN Computationally mapped isoform of Sorting nexin-2 OS=Homo sapiens OX=9606 GN=SNX2 PE=1 SV=8 CANONICAL=O60749-1" }, "locus": { "chromosome": "5", "start_pos": 122815971, "end_pos": 122775104, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505934.5", "url": "https://www.ensembl.org/id/ENST00000505934.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422413.1", "url": "https://www.ensembl.org/id/ENSP00000422413.1" } ] } }, { "isoform_ac": "O60749-1", "url": "", "sequence": { "sequence": "MAAEREPPPLGDGKPTDFEDLEDGEDLFTSTVSTLESSPSSPEPASLPAEDISANSNGPKPTEVVLDDDREDLFAEATEEVSLDSPEREPILSSEPSPAVTPVTPTTLIAPRIESKSMSAPVIFDRSREEIEEEANGDIFDIEIGVSDPEKVGDGMNAYMAYRVTTKTSLSMFSKSEFSVKRRFSDFLGLHSKLASKYLHVGYIVPPAPEKSIVGMTKVKVGKEDSSSTEFVEKRRAALERYLQRTVKHPTLLQDPDLRQFLESSELPRAVNTQALSGAGILRMVNKAADAVNKMTIKMNESDAWFEEKQQQFENLDQQLRKLHVSVEALVCHRKELSANTAAFAKSAAMLGNSEDHTALSRALSQLAEVEEKIDQLHQEQAFADFYMFSELLSDYIRLIAAVKGVFDHRMKCWQKWEDAQITLLKKREAEAKMMVANKPDKIQQAKNEIREWEAKVQQGERDFEQISKTIRKEVGRFEKERVKDFKTVIIKYLESLVQTQQQLIKYWEAFLPEAKAIA", "length": 519, "header": "sp|O60749-1|SNX2_HUMAN Isoform 1 of Sorting nexin-2 OS=Homo sapiens OX=9606 GN=SNX2 PE=1 SV=2 CANONICAL=O60749-1" }, "locus": { "chromosome": "5", "start_pos": 122829645, "end_pos": 122775104, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379516.7", "url": "https://www.ensembl.org/id/ENST00000379516.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000368831.2", "url": "https://www.ensembl.org/id/ENSP00000368831.2" } ] } }, { "isoform_ac": "O60749-2", "url": "", "sequence": { "sequence": "MSAPVIFDRSREEIEEEANGDIFDIEIGVSDPEKVGDGMNAYMAYRVTTKTSLSMFSKSEFSVKRRFSDFLGLHSKLASKYLHVGYIVPPAPEKSIVGMTKVKVGKEDSSSTEFVEKRRAALERYLQRTVKHPTLLQDPDLRQFLESSELPRAVNTQALSGAGILRMVNKAADAVNKMTIKMNESDAWFEEKQQQFENLDQQLRKLHVSVEALVCHRKELSANTAAFAKSAAMLGNSEDHTALSRALSQLAEVEEKIDQLHQEQAFADFYMFSELLSDYIRLIAAVKGVFDHRMKCWQKWEDAQITLLKKREAEAKMMVANKPDKIQQAKNEIREWEAKVQQGERDFEQISKTIRKEVGRFEKERVKDFKTVIIKYLESLVQTQQQLIKYWEAFLPEAKAIA", "length": 402, "header": "sp|O60749-2|SNX2_HUMAN Isoform 2 of Sorting nexin-2 OS=Homo sapiens OX=9606 GN=SNX2 PE=1 SV=2 CANONICAL=O60749-1" }, "locus": { "chromosome": "5", "start_pos": 122829645, "end_pos": 122799817, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514949.1", "url": "https://www.ensembl.org/id/ENST00000514949.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000421663.1", "url": "https://www.ensembl.org/id/ENSP00000421663.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 273, "start_aa": "Thr", "end_pos": 273, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr273", "evidence": [ { "id": "O60749", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60749" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60749", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60749" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "34105348", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34105348" } ] } ], "phosphorylation": [ { "start_pos": 101, "end_pos": 101, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" } ], "site_lbl": "Thr101" }, { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" }, { "database": "PubMed", "id": "22028470", "url": "https://glygen.org/publication/PubMed/22028470" } ], "site_lbl": "Thr104" }, { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr104" }, { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O60749", "url": "http://phospho.elm.eu.org/byAccession/O60749.html" } ], "site_lbl": "Ser117" }, { "start_pos": 119, "end_pos": 119, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "PubMed", "id": "20230923", 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Biol. Cell", "date": "2000", "authors": "Haft CR, de la Luz Sierra M, Bafford R, Lesniak MA, Barr VA, Taylor SI", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "11102511", "url": "https://glygen.org/publication/PubMed/11102511" } ] }, { "title": "The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Fuchs U, Rehkamp G, Haas O A, Slany R, K\u014dnig M, Bojesen S, Bohle R M, Damm-Welk C, Ludwig W D, Harbott J, Borkhardt A", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "11438682", "url": "https://glygen.org/publication/PubMed/11438682" } ] }, { "title": "Identification and characterization of a novel Golgi protein, GCP60, that interacts with the integral membrane protein giantin.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Sohda M, Misumi Y, Yamamoto A, Yano A, Nakamura N, Ikehara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11590181", "url": "https://glygen.org/publication/PubMed/11590181" } ] }, { "title": "Generation of high curvature membranes mediated by direct endophilin bilayer interactions.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Farsad K, Ringstad N, Takei K, Floyd SR, Rose K, De Camilli P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11604418", "url": "https://glygen.org/publication/PubMed/11604418" } ] }, { "title": "GGAs: roles of the different domains and comparison with AP-1 and clathrin.", "journal": "Molecular biology of the cell", "date": "2001", "authors": "Hirst J, Lindsay MR, Robinson MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "11694590", "url": "https://glygen.org/publication/PubMed/11694590" } ] }, { "title": "Regulated transport of the glucose transporter GLUT4.", "journal": "Nature reviews. 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"journal": "The Journal of biological chemistry", "date": "2004", "authors": "Starcevic M, Dell'Angelica EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "15102850", "url": "https://glygen.org/publication/PubMed/15102850" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O60749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Depletion of GAK/auxilin 2 inhibits receptor-mediated endocytosis and 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probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "iPTMnet", "id": "O60749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors.", "journal": "Molecular and cellular biology", "date": "2007-02", "authors": "Rojas Raul, Kametaka Satoshi, Haft Carol R, Bonifacino Juan S", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": 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Cell", "date": "2009", "authors": "Wassmer T, Attar N, Harterink M, van Weering JR, Traer CJ, Oakley J, Goud B, Stephens DJ, Verkade P, Korswagen HC, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "19619496", "url": "https://glygen.org/publication/PubMed/19619496" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": 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"authors": "Hong Z, Yang Y, Zhang C, Niu Y, Li K, Zhao X, Liu JJ", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "19935774", "url": "https://glygen.org/publication/PubMed/19935774" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O60749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "iPTMnet", "id": "O60749-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Identification of different itineraries and retromer components for endosome-to-Golgi transport of TGN38 and Shiga toxin.", "journal": "European journal of cell biology", "date": "2010-05", "authors": "Lieu Zi Zhao, Gleeson Paul A", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "20138391", "url": "https://glygen.org/publication/PubMed/20138391" 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assembly of distinct endosomal sorting tubules.", "journal": "The EMBO journal", "date": "2012", "authors": "van Weering JR, Sessions RB, Traer CJ, Kloer DP, Bhatia VK, Stamou D, Carlsson SR, Hurley JH, Cullen PJ", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" } ], "reference": [ { "type": "PubMed", "id": "23085988", "url": "https://glygen.org/publication/PubMed/23085988" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60749", "url": "https://www.uniprot.org/uniprot/O60749" }, { "database": "iPTMnet", "id": "O60749", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60749" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Engineering a Proximity-Directed O-GlcNAc Transferase for Selective Protein O-GlcNAcylation in Cells.", "journal": "ACS chemical biology", "date": "2020", "authors": "Ramirez DH, Aonbangkhen C, Wu HY, Naftaly JA, Tang S, O'Meara TR, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60749", "url": 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60749" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "O-GlcNAcylation Quantification of Certain Protein by the Proximity Ligation Assay and Clostridium perfringen OGA(D298N)(CpOGA(D298N)).", "journal": "ACS chemical biology", "date": "2021", "authors": "Song J, Liu C, Wang X, Xu B, Liu X, Li Y, Xia J, Li Y, Zhang C, Li D, Sun H", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60749" }, { "database": "O-GlcNAc Atlas", "id": "O60749", "url": "https://oglcnac.org/atlas/detail/O60749" } ], "reference": [ { "type": "PubMed", "id": "34105348", "url": "https://glygen.org/publication/PubMed/34105348" } ] }, { "title": "Synthesis of Na2S2O4 mediated cleavable affinity tag for labeling of O-GlcNAc modified proteins via azide-alkyne cycloaddition.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2021", "authors": "Wang J, Dou B, Zheng L, Cao W, Zeng X, Wen Y, Ma J, Li X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60749", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60749" } ], "reference": [ { "type": "PubMed", "id": "34229054", "url": "https://glygen.org/publication/PubMed/34229054" } ] }, { "title": "Human sorting nexin 2 protein interacts with Influenza A virus PA protein and has a negative regulatory effect on the virus replication.", "journal": "Molecular biology reports", "date": "2022", "authors": "Kocmar T, Caglayan E, Rayaman E, Nagata K, Turan K", "evidence": [ { "database": "RefSeq", "id": "NP_001265128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265128" } ], "reference": [ { "type": "PubMed", "id": "34817777", "url": "https://glygen.org/publication/PubMed/34817777" } ] }, { "title": "Alteration of clathrin light chain expression by transfection and gene disruption.", "journal": "Molecular biology of the cell", "date": "1993", "authors": "Acton SL, Wong DH, Parham P, Brodsky FM, Jackson AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8374173", "url": "https://glygen.org/publication/PubMed/8374173" } ] }, { "title": "Role of auxilin in uncoating clathrin-coated vesicles.", "journal": "Nature", "date": "1995", "authors": "Ungewickell E, Ungewickell H, Holstein SE, Lindner R, Prasad K, Barouch W, Martin B, Greene LE, Eisenberg E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8524399", "url": "https://glygen.org/publication/PubMed/8524399" } ] }, { "title": "Dynamin II binds to the trans-Golgi network.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Maier O, Knoblich M, Westermann P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432722", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432722" } ], "reference": [ { "type": "PubMed", "id": "8670264", "url": "https://glygen.org/publication/PubMed/8670264" } ] }, { "title": "Identification of a family of sorting nexin molecules and characterization of their association with receptors.", "journal": "Mol. 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