{ "uniprot_canonical_ac": "O14654-1", "uniprot_ac": "O14654", "uniprot_id": "IRS4_HUMAN", "mass": { "chemical_mass": 133768.0, "monoisotopic_mass": 133768.0 }, "refseq": { "ac": "NP_003595", "name": "insulin receptor substrate 4 isoform 1", "summary": "IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" }, "gene_names": [ { "name": "IRS4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14654", "id": "O14654" }, { "name": "CHNG9; IRS-4; PY160", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "id": "NP_003595" }, { "name": "IRS4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "id": "NP_003595" } ], "protein_names": [ { "name": "Insulin receptor substrate 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14654" }, { "name": "160 kDa phosphotyrosine protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14654" }, { "name": "IRS-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14654" }, { "name": "Phosphoprotein of 160 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14654" }, { "name": "insulin receptor substrate 4 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "id": "NP_003595" }, { "name": "pp160; phosphoprotein of 160 kDa; 160 kDa phosphotyrosine protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "id": "NP_003595" }, { "name": "pp160", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14654" }, { "name": "py160", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14654" } ], "function": [ { "annotation": "Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2.", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654#function" }, { "database": "PubMed", "id": "17408801", "url": "https://glygen.org/publication/PubMed/17408801" }, { "database": "PubMed", "id": "12639902", "url": "https://glygen.org/publication/PubMed/12639902" }, { "database": "PubMed", "id": "10531310", "url": "https://glygen.org/publication/PubMed/10531310" }, { "database": "PubMed", "id": "9553137", "url": "https://glygen.org/publication/PubMed/9553137" }, { "database": "PubMed", "id": "10594015", "url": "https://glygen.org/publication/PubMed/10594015" } ] }, { "annotation": "FER-mediated phosphorylation and PIK3R2 recruitment on IRS4 promotes AKT activation and tumorigenesis in ovarian cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" }, { "database": "PubMed", "id": "35550247", "url": "https://glygen.org/publication/PubMed/35550247" } ] }, { "annotation": "Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" }, { "database": "PubMed", "id": "36860195", "url": "https://glygen.org/publication/PubMed/36860195" } ] }, { "annotation": "IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" } ] }, { "annotation": "Patients with Invasive Lobular Carcinoma Show a Significant Increase in IRS-4 Expression Compared to Infiltrative Ductal Carcinoma-A Histopathological Study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" }, { "database": "PubMed", "id": "35743985", "url": "https://glygen.org/publication/PubMed/35743985" } ] } ], "disease": [ { "disease_id": "DOID:0111835", "recommended_name": { "id": "DOID:0111835", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111835", "name": "congenital nongoitrous hypothyroidism 9", "description": "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3." }, "synonyms": [ { "id": "DOID:0111835", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111835", "name": "CHNG9", "description": "" }, { "id": "MONDO:0026732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026732", "name": "hypothyroidism, congenital, nongoitrous, 9", "description": "" }, { "id": "MONDO:0026732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026732", "name": "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive", "description": "" }, { "id": "MONDO:0026732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026732", "name": "CHNG9", "description": "" }, { "id": "MONDO:0026732", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0026732", "name": "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9", "description": "" }, { "id": "MIM:301035", "resource": "MIM", "url": "https://www.omim.org/entry/301035", "name": "Hypothyroidism, congenital, non-goitrous, 9", "description": "Hypothyroidism, congenital, non-goitrous, 9" } ], "evidence": [ { "id": "301035", "database": "MIM", "url": "https://www.omim.org/entry/301035" } ] } ], "snv": [ { "evidence": [ { "id": "rs1371164628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371164628" }, { "id": "rs1371164628", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371164628" }, { "id": "rs1371164628", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371164628" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1024, "end_pos": 1024, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "X", "chr_pos": "108733275", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1024", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886108400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886108400" }, { "id": "rs886108400", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886108400" }, { "id": "rs886108400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886108400#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1057, "end_pos": 1057, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "X", "chr_pos": "108733176", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1057", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1260200424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260200424" }, { "id": "rs1260200424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260200424" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1087, "end_pos": 1087, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "X", "chr_pos": "108733085", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1087", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1309450223", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309450223" }, { "id": "rs1309450223", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309450223" }, { "id": "rs1309450223", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309450223" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1235, "end_pos": 1235, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "X", "chr_pos": "108732642", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749175631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749175631" }, { "id": "rs749175631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749175631" }, { "id": "rs749175631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749175631" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "X", "chr_pos": "108734985", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749175631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749175631" }, { "id": "rs749175631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749175631" }, { "id": "rs749175631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749175631" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 454, "end_pos": 454, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "X", "chr_pos": "108734985", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A454", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1395919349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1395919349" }, { "id": "rs1395919349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1395919349" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 514, "end_pos": 514, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "X", "chr_pos": "108734804", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S514", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776420382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776420382" }, { "id": "rs776420382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776420382" }, { "id": "rs776420382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776420382#frequency_tab" }, { "id": "rs776420382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776420382" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 570, "end_pos": 570, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "X", "chr_pos": "108734637", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S570", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775385895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775385895" }, { "id": "rs775385895", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775385895" }, { "id": "rs775385895", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775385895" }, { "id": "rs775385895", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775385895" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 938, "end_pos": 938, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "X", "chr_pos": "108733533", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000265", "site_lbl": "T938", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1418849117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418849117" }, { "id": "rs1418849117", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1418849117" }, { "id": "rs1418849117", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1418849117" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 974, "end_pos": 974, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "X", "chr_pos": "108733425", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D974", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 700, "end_pos": 700, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect. Reduces interaction with CRK by 50%; when associated with F-717. Abolishes interaction with CRK; when associated with F-717; F-743 and F-779.", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" } ] }, { "start_pos": 717, "end_pos": 717, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect. Reduces interaction with CRK by 50%; when associated with F-700. Abolishes interaction with CRK; when associated with F-700; F-743 and F-779.", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" } ] }, { "start_pos": 743, "end_pos": 743, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect. Reduces interaction with CRK by 50%; when associated with F-779. Abolishes interaction with CRK; when associated with F-700; F-717 and F-779.", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" } ] }, { "start_pos": 779, "end_pos": 779, "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect. Reduces interaction with CRK by 50%; when associated with F-743. Abolishes interaction with CRK; when associated with F-700; F-717 and F-743.", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "27.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "49.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "23.33", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "37.89", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "57.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "36.1", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "38.32", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14654", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14654" } ], "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14654", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14654" } ], "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", 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"url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14654", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14654" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "common_name": "Human" } ], "gene": [ { "name": "IRS4", "url": "https://www.uniprot.org/uniprot/O14654", "locus": { "chromosome": "X", "start_pos": 108719946, "end_pos": 108736563, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000133124", "url": "https://www.ensembl.org/id/ENSG00000133124" } ] } } ], "crossref": [ { "id": "ENSG00000133124", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133124", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd01204", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01204", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd01257", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01257", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "IRS4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IRS4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8471", "url": "https://www.ncbi.nlm.nih.gov/gene/8471", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6128", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6128", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14654", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14654*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002404", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002404", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039011", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039011", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8471", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8471", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300904", "url": "http://www.omim.org/entry/300904", "database": "MIM", "categories": [ "Other" ] }, { "id": "301035", "url": "http://www.omim.org/entry/301035", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14654", "url": "https://www.nextprot.org/entry/NX_O14654", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O14654", "url": "https://oglcnac.org/atlas/detail/O14654", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O14654", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14654", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "VIFNPAM", "url": "https://omabrowser.org/oma/group/VIFNPAM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4212441at2759", "url": "http://www.orthodb.org/?query=4212441at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10614", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10614", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10614:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10614:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02174", "url": "http://pfam.xfam.org/family/PF02174", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14654", "url": "https://pharos.nih.gov/targets/O14654", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14654", "url": "http://purl.obolibrary.org/obo/PR_O14654", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A804CF45", "url": "https://www.uniprot.org/uniprot/A0A804CF45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804CF45-1", "url": "https://www.uniprot.org/uniprot/A0A804CF45-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14654-1", "url": "https://www.uniprot.org/uniprot/O14654-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTATGSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADAPARLEYYENARKFRHSVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMVAENESEQESWYLLLSRLILESKRRRCGTLGAQPDGEPAALAAAAAAEPPFYKDVWQVIVKPRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRSTVIGPGELWMQVDDCVVAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRHLGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGRRSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQEGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGEGQGSRGGQGSNGQGSGGNQCSRDGQGTAGGHGSGGGQRPGGGHGSGGGQGPGDGHGSGGGKNSGGGKGSGSGKGSDGDGERGKSLKKRSYFGKLTQSKQQQMPPPPPPPPPPPPAGGTGGKGKSGGRFRLYFCVDRGATKECKEAKEVKDAEIPEGAARGPHRARAFDEDEDDPYVPMRPGVATPLVSSSDYMPMAPQNVSASKKRHSRSPFEDSRGYMMMFPRVSPPPAPSPPKAPDTNKEDDSKDNDSESDYMFMAPGAGAIPKNPRNPQGGSSSKSWSSYFSLPNPFRSSPLGQNDNSEYVPMLPGKFLGRGLDKEVSYNWDPKDAASKPSGEGSFSKPGDGGSPSKPSDHEPPKNKAKRPNRLSFITKGYKIKPKPQKPTHEQREADSSSDYVNMDFTKRESNTPAPSTQGLPDSWGIIAEPRQSAFSNYVNVEFGVPFPNPANDLSDLLRAIPRANPLSLDSARWPLPPLPLSATGSNAIEEEGDYIEVIFNSAMTPAMALADSAIRYDAETGRIYVVDPFSECCMDISLSPSRCSEPPPVARLLQEEEQERRRPQSRSQSFFAAARAAVSAFPTDSLERDLSPSSAPAVASAAEPTLALSQVVAAASALAAAPGIGAAAAAAGFDSASARWFQPVANAADAEAVRGAQDVAGGSNPGAHNPSANLARGDNQAGGAAAAAAAPEPPPRSRRVPRPPEREDSDNDDDTHVRMDFARRDNQFDSPKRGR", "length": 1257, "header": "sp|O14654-1|IRS4_HUMAN Isoform 1 of Insulin receptor substrate 4 OS=Homo sapiens OX=9606 GN=IRS4 PE=1 SV=1 CANONICAL=O14654-1" }, "isoforms": [ { "isoform_ac": "A0A804CF45-1", "url": "", "sequence": { "sequence": "MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTATGSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADAPARLEYYENARKFRHSVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMVAENESEQESWYLLLSRLILESKRRRCGTLGAQPDGEPAALAAAAAAEPPFYKDVWQVIVKPRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRSTVIGPGELWMQVDDCVVAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRHLGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGRRSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQEGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGEGQGSRGGQGSNGQGSGGNQCSRDGQGTAGGHGSGGGQRPGGGHGSGGGQGPGDGHGSGGGKNSGGGKGSGSGKGSDGDGERGKSLKKRSYFGKLTQSKQQQMPPPPPPPPPPPPAGGTGGKGKSGGRFRLYFCVDRGATKECKEAKEVKDAEIPEGAARGPHRARAFDEDEDDPYVPMRPGVATPLVSSSDYMPMAPQNVSASKKRHSRSPFEDSRGYMMMFPRVSPPPAPSPPKAPDTNKEDDSKDNDSESDYMFMAPGAGAIPKNPRNPQGGSSSKSWSSYFSLPNPFRSSPLGQNDNSEYVPMLPGKFLGRGLDKEVSYNWDPKDAASKPSGEGSFSKPGDGGSPSKPSDHEPPKNKAKRPNRLSFITKGYKIKPKPQKPTHEQREADSSSDYVNMDFTKRESNTPAPSTQGLPDSWGIIAEPRQSAFSNYVNVEFGVPFPNPANDLSDLLRAIPRANPLSLDSARWPLPPLPLSATGSNAIEEEGDYIEVIFNSAMTPAMALADSAIRYDAETGRIYVVDPFSECCMDISLSPSRCSEPPPVARLLQEEEQERRRPQSRSQSFFAAARAAVSAFPTDSLERDLSPSSAPAVASAAEPTLALSQVVAAASALAAAPGIGAAAAAAGFDSASARWFQPVANAADAEAVRGAQDVAGGSNPGAHNPSANLARGDNQAGGAAAAAAAPEPPPRSRRVPRPPEREDSDNDDDTHVRMDFARRDNQFDSPKRE", "length": 1256, "header": "tr|A0A804CF45-1|A0A804CF45_HUMAN Computationally mapped isoform of Insulin receptor substrate 4 OS=Homo sapiens OX=9606 GN=IRS4 PE=1 SV=1 CANONICAL=O14654-1" }, "locus": { "chromosome": "X", "start_pos": 108736344, "end_pos": 108722522, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372129.4", "url": "https://www.ensembl.org/id/ENST00000372129.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000361202.3", "url": "https://www.ensembl.org/id/ENSP00000361202.3" } ] } }, { "isoform_ac": "O14654-1", "url": "", "sequence": { "sequence": "MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTATGSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADAPARLEYYENARKFRHSVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMVAENESEQESWYLLLSRLILESKRRRCGTLGAQPDGEPAALAAAAAAEPPFYKDVWQVIVKPRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRSTVIGPGELWMQVDDCVVAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRHLGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGRRSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQEGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGEGQGSRGGQGSNGQGSGGNQCSRDGQGTAGGHGSGGGQRPGGGHGSGGGQGPGDGHGSGGGKNSGGGKGSGSGKGSDGDGERGKSLKKRSYFGKLTQSKQQQMPPPPPPPPPPPPAGGTGGKGKSGGRFRLYFCVDRGATKECKEAKEVKDAEIPEGAARGPHRARAFDEDEDDPYVPMRPGVATPLVSSSDYMPMAPQNVSASKKRHSRSPFEDSRGYMMMFPRVSPPPAPSPPKAPDTNKEDDSKDNDSESDYMFMAPGAGAIPKNPRNPQGGSSSKSWSSYFSLPNPFRSSPLGQNDNSEYVPMLPGKFLGRGLDKEVSYNWDPKDAASKPSGEGSFSKPGDGGSPSKPSDHEPPKNKAKRPNRLSFITKGYKIKPKPQKPTHEQREADSSSDYVNMDFTKRESNTPAPSTQGLPDSWGIIAEPRQSAFSNYVNVEFGVPFPNPANDLSDLLRAIPRANPLSLDSARWPLPPLPLSATGSNAIEEEGDYIEVIFNSAMTPAMALADSAIRYDAETGRIYVVDPFSECCMDISLSPSRCSEPPPVARLLQEEEQERRRPQSRSQSFFAAARAAVSAFPTDSLERDLSPSSAPAVASAAEPTLALSQVVAAASALAAAPGIGAAAAAAGFDSASARWFQPVANAADAEAVRGAQDVAGGSNPGAHNPSANLARGDNQAGGAAAAAAAPEPPPRSRRVPRPPEREDSDNDDDTHVRMDFARRDNQFDSPKRGR", "length": 1257, "header": "sp|O14654-1|IRS4_HUMAN Isoform 1 of Insulin receptor substrate 4 OS=Homo sapiens OX=9606 GN=IRS4 PE=1 SV=1 CANONICAL=O14654-1" }, "locus": { "chromosome": "X", "start_pos": 108736344, "end_pos": 108732574, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564206.2", "url": "https://www.ensembl.org/id/ENST00000564206.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000505547.1", "url": "https://www.ensembl.org/id/ENSP00000505547.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 570, "start_aa": "Ser", "end_pos": 570, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser570", "evidence": [ { "id": "O14654", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14654" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 938, "start_aa": "Thr", "end_pos": 938, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr938", "evidence": [ { "id": "O14654", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14654" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "phosphorylation": [ { "start_pos": 1046, "end_pos": 1046, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr1046" }, { "start_pos": 1107, "end_pos": 1107, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1107" }, { "start_pos": 1231, "end_pos": 1231, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser1231" }, { "start_pos": 1237, "end_pos": 1237, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr1237" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser64" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser66" }, { "start_pos": 68, "end_pos": 68, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser68" }, { "start_pos": 700, "end_pos": 700, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" }, { "database": "IntAct", "id": "O14654", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14654*" } ], "site_lbl": "Tyr700" }, { "start_pos": 717, "end_pos": 717, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" }, { "database": "IntAct", "id": "O14654", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14654*" } ], "site_lbl": "Tyr717" }, { "start_pos": 743, "end_pos": 743, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" }, { "database": "IntAct", "id": "O14654", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14654*" } ], "site_lbl": "Tyr743" }, { "start_pos": 779, "end_pos": 779, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "11316748", "url": "https://glygen.org/publication/PubMed/11316748" }, { "database": "IntAct", "id": "O14654", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14654*" }, { "database": "PubMed", "id": "35550247", "url": "https://glygen.org/publication/PubMed/35550247" } ], "site_lbl": "Tyr779" }, { "start_pos": 856, "end_pos": 856, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" }, { "database": "PubMed", "id": "19413330", "url": 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Biol. Chem.", "date": "2002", "authors": "Sano Hiroyuki, Liu Simon C H, Lane William S, Piletz John E, Lienhard Gustav E", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "reference": [ { "type": "PubMed", "id": "11912194", "url": "https://glygen.org/publication/PubMed/11912194" } ] }, { "title": "Insulin receptor substrate-4 is expressed in muscle tissue without acting as a substrate for the insulin receptor.", "journal": "Endocrinology", "date": "2003", "authors": "Schreyer S, Ledwig D, Rakatzi I, Kloting I, Eckel J", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "12639902", "url": "https://glygen.org/publication/PubMed/12639902" } ] }, { "title": "Insulin-like growth factor-I signaling in human neuroblastoma cells.", "journal": "Oncogene", "date": "2004", "authors": "Kim B, van Golen CM, Feldman EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "14712218", "url": "https://glygen.org/publication/PubMed/14712218" } ] }, { "title": "Colocalization of insulin receptor and insulin receptor substrate-1 to caveolae in primary human adipocytes. Cholesterol depletion blocks insulin signalling for metabolic and mitogenic control.", "journal": "European journal of biochemistry", "date": "2004", "authors": "Karlsson M, Thorn H, Danielsson A, Stenkula KG, Ost A, Gustavsson J, Nystrom FH, Stralfors P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "15182363", "url": "https://glygen.org/publication/PubMed/15182363" } ] }, { "title": "Tyrosine phosphoproteomics of fibroblast growth factor signaling: a role for insulin receptor substrate-4.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Hinsby AM, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" } ], "reference": [ { "type": "PubMed", "id": "15316024", "url": "https://glygen.org/publication/PubMed/15316024" } ] }, { "title": "Protein phosphatase 4 interacts with and down-regulates insulin receptor substrate 4 following tumor necrosis factor-alpha stimulation.", "journal": "J. 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Chem.", "date": "2004", "authors": "Mihindukulasuriya Kathie A, Zhou Guisheng, Qin Jun, Tan Tse-Hua", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "reference": [ { "type": "PubMed", "id": "15331607", "url": "https://glygen.org/publication/PubMed/15331607" } ] }, { "title": "Interaction between Brk kinase and insulin receptor substrate-4.", "journal": "Oncogene", "date": "2005", "authors": "Qiu Haoqun, Zappacosta Francesca, Su Wenjuan, Annan Roland S, Miller W Todd", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "reference": [ { "type": "PubMed", "id": "15870689", "url": "https://glygen.org/publication/PubMed/15870689" } ] }, { "title": "Differential phosphorylation of IRS-1 and IRS-2 by insulin and IGF-I receptors.", "journal": "Archives of physiology and biochemistry", "date": "2006", "authors": "Rakatzi I, Stosik M, Gromke T, Siddle K, Eckel J", "evidence": 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IGF-I-stimulated HEPG2 proliferation.", "journal": "Journal of hepatology", "date": "2007", "authors": "Cuevas EP, Escribano O, Chiloeches A, Ramirez Rubio S, Roman ID, Fernandez-Moreno MD, Guijarro LG", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "17408801", "url": "https://glygen.org/publication/PubMed/17408801" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { 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"evidence": [ { "database": "O-GlcNAc Database", "id": "O14654", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14654" } ], "reference": [ { "type": "PubMed", "id": "32870666", "url": "https://glygen.org/publication/PubMed/32870666" } ] }, { "title": "FER-mediated phosphorylation and PIK3R2 recruitment on IRS4 promotes AKT activation and tumorigenesis in ovarian cancer cells.", "journal": "eLife", "date": "2022", "authors": "Zhang Y, Xiong X, Zhu Q, Zhang J, Chen S, Wang Y, Cao J, Chen L, Hou L, Zhao X, Hao P, Chen J, Zhuang M, Li D, Fan G", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" }, { "database": "iPTMnet", "id": "O14654", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14654" } ], "reference": [ { "type": "PubMed", "id": "35550247", "url": "https://glygen.org/publication/PubMed/35550247" } ] }, { "title": "Patients with Invasive Lobular Carcinoma Show a Significant Increase in IRS-4 Expression Compared to Infiltrative Ductal Carcinoma-A Histopathological Study.", "journal": "Medicina (Kaunas, Lithuania)", "date": "2022", "authors": "Ortega MA, Fraile-Martinez O, Garcia-Montero C, Borja-Vergel S, Torres-Carranza D, Pekarek L, Arribas CB, De Leon-Luis JA, Sanchez-Rojo C, Alvarez-Mon MA, Garcia-Honduvilla N, Bujan J, Coca S, Alvarez-Mon M, Saez MA, Guijarro LG", "evidence": [ { "database": "RefSeq", "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595" } ], "reference": [ { "type": "PubMed", "id": "35743985", "url": "https://glygen.org/publication/PubMed/35743985" } ] }, { "title": "Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.", "journal": "Thyroid : official journal of the American Thyroid Association", "date": "2023-07", "authors": "Lauffer Peter, Naafs Jolanda C, Bikker Hennie, Garrelfs Mark R, Mooij Christiaan F, Boelen Anita, Zwaveling-Soonawala Nitash, van Trotsenburg A S Paul", "evidence": [ { 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Tyrosine phosphorylation and in vitro binding of insulin receptor kinase.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Siemeister G, al-Hasani H, Klein HW, Kellner S, Streicher R, Krone W, Muller-Wieland D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "7876259", "url": "https://glygen.org/publication/PubMed/7876259" } ] }, { "title": "Substrate specificities of the insulin and insulin-like growth factor 1 receptor tyrosine kinase catalytic domains.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Xu B, Bird VG, Miller WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "8530377", "url": "https://glygen.org/publication/PubMed/8530377" } ] }, { "title": "Interaction of insulin receptor substrate-2 (IRS-2) with the insulin and insulin-like growth factor I receptors. Evidence for two distinct phosphotyrosine-dependent interaction domains within IRS-2.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "He W, Craparo A, Zhu Y, O'Neill TJ, Wang LM, Pierce JH, Gustafson TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "8662806", "url": "https://glygen.org/publication/PubMed/8662806" } ] }, { "title": "Roles of insulin receptor substrate-1 and Shc on insulin-like growth factor I receptor signaling in early passages of cultured human fibroblasts.", "journal": "Endocrinology", "date": "1997", "authors": "Takahashi Y, Tobe K, Kadowaki H, Katsumata D, Fukushima Y, Yazaki Y, Akanuma Y, Kadowaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "9003010", "url": "https://glygen.org/publication/PubMed/9003010" } ] }, { "title": "A novel 160-kDa phosphotyrosine protein in insulin-treated embryonic kidney cells is a new member of the insulin receptor substrate family.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Lavan BE, Fantin VR, Chang ET, Lane WS, Keller SR, Lienhard GE", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "reference": [ { "type": "PubMed", "id": "9261155", "url": "https://glygen.org/publication/PubMed/9261155" } ] }, { "title": "Characterization of insulin receptor substrate 4 in human embryonic kidney 293 cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Fantin VR, Sparling JD, Slot JW, Keller SR, Lienhard GE, Lavan BE", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" }, { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "9553137", "url": "https://glygen.org/publication/PubMed/9553137" } ] }, { "title": "Interplay of the proto-oncogene proteins CrkL and CrkII in insulin-like growth factor-I receptor-mediated signal transduction.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Koval AP, Karas M, Zick Y, LeRoith D", "evidence": [ { "database": "UniProtKB", "id": "O14654", "url": "https://www.uniprot.org/uniprot/O14654" } ], "reference": [ { "type": "PubMed", "id": "9614078", "url": "https://glygen.org/publication/PubMed/9614078" } ] }, { "title": "Differential regulation of insulin receptor substrate-2 and mitogen-activated protein kinase tyrosine phosphorylation by phosphatidylinositol 3-kinase inhibitors in SH-SY5Y human neuroblastoma cells.", "journal": "Endocrinology", "date": "1998", "authors": "Kim B, Leventhal PS, White MF, Feldman EL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2428928", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2428928" } ], "reference": [ { "type": "PubMed", "id": "9832424", "url": "https://glygen.org/publication/PubMed/9832424" } ] }, { "title": "Insulin receptor substrate 2 and Shc play different roles in insulin-like growth factor I signaling.", "journal": "The Journal of 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