{ "uniprot_canonical_ac": "P13598-1", "uniprot_ac": "P13598", "uniprot_id": "ICAM2_HUMAN", "mass": { "chemical_mass": 30654.0, "monoisotopic_mass": 30654.0 }, "refseq": { "ac": "NP_000864", "name": "intercellular adhesion molecule 2 precursor", "summary": "The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, "gene_names": [ { "name": "ICAM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P13598", "id": "P13598" }, { "name": "CD102", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864", "id": "NP_000864" }, { "name": "ICAM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864", "id": "NP_000864" } ], "protein_names": [ { "name": "Intercellular adhesion molecule 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P13598" }, { "name": "ICAM-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864", "id": "NP_000864" }, { "name": "ICAM-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P13598" }, { "name": "intercellular adhesion molecule 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864", "id": "NP_000864" } ], "function": [ { "annotation": "ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance.", "evidence": [ { "database": "UniProtKB", "id": "P13598", "url": "https://www.uniprot.org/uniprot/P13598#function" } ] }, { "annotation": "ICAM-1 and ICAM-2 Are Differentially Expressed and Up-Regulated on Inflamed Pulmonary Epithelium, but Neither ICAM-2 nor LFA-1: ICAM-1 Are Required for Neutrophil Migration Into the Airways In Vivo. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, { "database": "PubMed", "id": "34484188", "url": "https://glygen.org/publication/PubMed/34484188" } ] }, { "annotation": "ICAM2 induction by p53 has a key role in inhibiting cancer cell migration and invasion.ICAM2 acts at least in part through the suppression of the MEK-ERK signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, { "database": "PubMed", "id": "27556181", "url": "https://glygen.org/publication/PubMed/27556181" } ] }, { "annotation": "INDEED also identified some candidates previously reported to be relevant to HCC, such as intercellular adhesion molecule 2 (ICAM2) and c4b-binding protein alpha chain (C4BPA), which were missed by both Differential expression and differential network analyses", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, { "database": "PubMed", "id": "27592383", "url": "https://glygen.org/publication/PubMed/27592383" } ] }, { "annotation": "Intercellular adhesion molecule 2 as a novel prospective tumor suppressor induced by ERG promotes ubiquitination-mediated radixin degradation to inhibit gastric cancer tumorigenicity and metastasis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, { "database": "PubMed", "id": "37759298", "url": "https://glygen.org/publication/PubMed/37759298" } ] }, { "annotation": "Lewis-antigen-containing ICAM-2/3 on Jurkat leukemia cells interact with DC-SIGN to regulate DC functions.", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" }, { "database": "PubMed", "id": "29671117", "url": "https://glygen.org/publication/PubMed/29671117" } ] }, { "annotation": "The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000864" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P13598", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13598" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 105, "end_pos": 105, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVS->DVS).", "chr_id": "17", "chr_pos": "64005122", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N105", "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": "rs775187300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187300" }, { "id": "rs775187300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187300" }, { "id": "rs775187300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775187300#frequency_tab" }, { "id": "rs775187300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775187300" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "17", "chr_pos": "64005120", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1311314377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1311314377" }, { "id": "rs1311314377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1311314377" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVC).", "chr_id": "17", "chr_pos": "64005116", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1172947965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172947965" }, { "id": "rs1172947965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172947965" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVL).", "chr_id": "17", "chr_pos": "64003670", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745429341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745429341" }, { "id": "rs745429341", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745429341" }, { "id": "rs745429341", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745429341#frequency_tab" }, { "id": "rs745429341", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745429341" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 107, "end_pos": 107, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->NVR).", "chr_id": "17", "chr_pos": "64005114", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S107", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772122002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772122002" }, { "id": "rs772122002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772122002" }, { "id": "rs772122002", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772122002#frequency_tab" }, { "id": "rs772122002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772122002" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 153, "end_pos": 153, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->SET).", "chr_id": "17", "chr_pos": "64003835", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N153", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200838101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200838101" }, { "id": "rs200838101", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200838101" }, { "id": "rs200838101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200838101" }, { "id": "rs200838101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200838101#frequency_tab" }, { "id": "rs200838101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200838101" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSM).", "chr_id": "17", "chr_pos": "64003760", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "T178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774598927", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774598927" }, { "id": "rs774598927", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774598927" }, { "id": "rs774598927", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774598927" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 178, "end_pos": 178, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSP).", "chr_id": "17", "chr_pos": "64003761", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T178", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P13598", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P13598" } ], "glycoeffect": [], "start_pos": 186, "end_pos": 186, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "64003736", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R186", "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": "" } ] }, { "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": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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", 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"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": 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"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", 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"database": "BioXpress", "id": "P13598", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13598" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13598" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P13598", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P13598" } ], "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", 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"https://www.ensembl.org/id/ENST00000584084.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463862.1", "url": "https://www.ensembl.org/id/ENSP00000463862.1" } ] } }, { "isoform_ac": "J3QQX6-1", "url": "", "sequence": { "sequence": "MSSFGYRTLTVALFTLICCPGSDEKVFEVHVRPKKLAVEPKGSLEVNCSTTCNQPEVGGLETSLDKILLDEQAQWKHYLVSNISHDTVLQCHFTCSGKQESMNSNVSVYQPPRQVILTLQPTLVAVGKSFTIECRVPTVEPLDSLTLFLFRGNETLHYETFGKAAPAPQEATATFNSTADREDGHRNFSCLAVLDLMSRGGNIFHKHSAPKMLE", "length": 214, "header": "tr|J3QQX6-1|ICAM2_HUMAN Computationally mapped isoform of Intercellular adhesion molecule 2 OS=Homo sapiens OX=9606 GN=ICAM2 PE=1 SV=1 CANONICAL=P13598-1" }, "locus": { "chromosome": "17", "start_pos": 64006691, "end_pos": 64003651, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583366.5", "url": "https://www.ensembl.org/id/ENST00000583366.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463945.1", "url": "https://www.ensembl.org/id/ENSP00000463945.1" } ] } }, { "isoform_ac": "J3QRQ1-1", "url": "", "sequence": { "sequence": "MSSFGYRTLTVALFTLICCPGSDEKVFEVHVRPKKLAVEPKGSLEVNCSTTCNQPEVGGLETSLDKILLDEQAQWKHYLVSNISHDTVLQCHFTCSGKQESMNSNVSVYQPPRQVILTLQPTLVAVGKSFTIECRVPTVEPLDSLTLFLFRGNETLHYETFGKAAPAPQEATATFNSTADREDGHRNFSCLAVLDLMSRGGNIFHKHSAPKMLEIY", "length": 216, "header": "tr|J3QRQ1-1|ICAM2_HUMAN Computationally mapped isoform of Intercellular adhesion molecule 2 OS=Homo sapiens OX=9606 GN=ICAM2 PE=1 SV=1 CANONICAL=P13598-1" }, "locus": { "chromosome": "17", "start_pos": 64006691, "end_pos": 64003645, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578313.5", "url": "https://www.ensembl.org/id/ENST00000578313.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464331.1", "url": "https://www.ensembl.org/id/ENSP00000464331.1" } ] } }, { "isoform_ac": "J3QRT5-1", "url": "", "sequence": { "sequence": "MSSFGYRTLTVALFTLICCPGSDEKVFEVHVRPKKLATSLDKILLDEQAQWKHYLVSNISHDTVLQCHFTCSGKQESMNSNVSVYQPPRQVILTLQPTLVAVGKSFTIECRVPTVEPLDSLTLFLFRGNETLHYETFGKAAPAPQEATATFNSTADREDGHRNFSCLAVLDLMSRGGNIFHKHSAPKMLEIYEPVSDSQMVIIVTVVSVLLSLFVTSVLLCFIFGQHLRQQRMGTYGVRAAWRRLPQAFRP", "length": 251, "header": "tr|J3QRT5-1|ICAM2_HUMAN Computationally mapped isoform of Intercellular adhesion molecule 2 OS=Homo sapiens OX=9606 GN=ICAM2 PE=1 SV=1 CANONICAL=P13598-1" }, "locus": { "chromosome": "17", "start_pos": 64006691, "end_pos": 64002750, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578892.5", "url": "https://www.ensembl.org/id/ENST00000578892.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464372.1", "url": "https://www.ensembl.org/id/ENSP00000464372.1" } ] } }, { "isoform_ac": "P13598-1", "url": "", "sequence": { "sequence": "MSSFGYRTLTVALFTLICCPGSDEKVFEVHVRPKKLAVEPKGSLEVNCSTTCNQPEVGGLETSLDKILLDEQAQWKHYLVSNISHDTVLQCHFTCSGKQESMNSNVSVYQPPRQVILTLQPTLVAVGKSFTIECRVPTVEPLDSLTLFLFRGNETLHYETFGKAAPAPQEATATFNSTADREDGHRNFSCLAVLDLMSRGGNIFHKHSAPKMLEIYEPVSDSQMVIIVTVVSVLLSLFVTSVLLCFIFGQHLRQQRMGTYGVRAAWRRLPQAFRP", "length": 275, "header": "sp|P13598-1|ICAM2_HUMAN Isoform 1 of Intercellular adhesion molecule 2 OS=Homo sapiens OX=9606 GN=ICAM2 PE=1 SV=2 CANONICAL=P13598-1" }, "locus": { "chromosome": "17", "start_pos": 64006691, "end_pos": 64002750, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412356.5", "url": "https://www.ensembl.org/id/ENST00000412356.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415283.1", "url": "https://www.ensembl.org/id/ENSP00000415283.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "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": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn105", "evidence": [ { "id": "682", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/682" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G37881RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 105, "start_aa": "Asn", "end_pos": 105, "end_aa": "Asn", 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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": "Crystal structure of ICAM-2 reveals a distinctive integrin recognition surface.", "journal": "Nature", "date": "1997", "authors": "Casasnovas JM, Springer TA, Liu JH, Harrison SC, Wang JH", "evidence": [ { "database": "UniProtKB", "id": "P13598", "url": "https://www.uniprot.org/uniprot/P13598#ptm_processing" }, { "database": "UniProtKB", "id": "P13598", "url": "https://www.uniprot.org/uniprot/P13598" } ], "reference": [ { "type": "PubMed", "id": "9153399", "url": "https://glygen.org/publication/PubMed/9153399" } ] }, { "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": "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": "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": "Phosphorylation of NF-kappa B p65 by PKA stimulates transcriptional 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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": "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": 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