{ "uniprot_canonical_ac": "O14492-1", "uniprot_ac": "O14492", "uniprot_id": "SH2B2_HUMAN", "mass": { "chemical_mass": 67738.0, "monoisotopic_mass": 67738.0 }, "refseq": {}, "gene_names": [ { "name": "SH2B2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14492", "id": "O14492" }, { "name": "APS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14492", "id": "O14492" } ], "protein_names": [ { "name": "SH2B adapter protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14492" }, { "name": "Adapter protein with pleckstrin homology and Src homology 2 domains", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14492" }, { "name": "SH2 and PH domain-containing adapter protein APS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14492" } ], "function": [ { "annotation": "Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3.", "evidence": [ { "database": "UniProtKB", "id": "O14492", "url": "https://www.uniprot.org/uniprot/O14492#function" }, { "database": "PubMed", "id": "15378031", "url": "https://glygen.org/publication/PubMed/15378031" }, { "database": "PubMed", "id": "12400014", "url": "https://glygen.org/publication/PubMed/12400014" }, { "database": "PubMed", "id": "9989826", "url": "https://glygen.org/publication/PubMed/9989826" }, { "database": "PubMed", "id": "10374881", "url": "https://glygen.org/publication/PubMed/10374881" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "60.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "72.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "67.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "80.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "76.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000160999", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000160999" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "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": "O14492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "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": 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{ "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": 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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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14492", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14492" } ], "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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Pleckstrin homology (PH) and Src homology-2 (SH2) domains inhibits the JAK-STAT pathway in collaboration with c-Cbl.", "journal": "Leukemia", "date": "1999", "authors": "Wakioka T, Sasaki A, Mitsui K, Yokouchi M, Inoue A, Komiya S, Yoshimura A", "evidence": [ { "database": "UniProtKB", "id": "O14492", "url": "https://www.uniprot.org/uniprot/O14492" }, { "database": "Reactome", "id": "R-HSA-1433559", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433559" } ], "reference": [ { "type": "PubMed", "id": "10374881", "url": "https://glygen.org/publication/PubMed/10374881" } ] }, { "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11042108", "url": "https://glygen.org/publication/PubMed/11042108" } ] }, { "title": "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Nielsen E, Christoforidis S, Uttenweiler-Joseph S, Miaczynska M, Dewitte F, Wilm M, Hoflack B, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11062261", "url": "https://glygen.org/publication/PubMed/11062261" } ] }, { "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange.", "journal": "Genes & development", "date": "2001", "authors": "Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11751636", "url": "https://glygen.org/publication/PubMed/11751636" } ] }, { "title": "The human beta-globin locus control region.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Levings PP, Bungert J", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11895428", "url": "https://glygen.org/publication/PubMed/11895428" } ] }, { "title": "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.", "journal": "Journal of cell science", "date": "2002", "authors": "Rojo M, Legros F, Chateau D, Lombes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "title": "The Cbl family of ubiquitin ligases: critical negative regulators of tyrosine kinase signaling in the immune system.", "journal": "Journal of leukocyte biology", "date": "2002", "authors": "Rao N, Dodge I, Band H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433559", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433559" } ], "reference": [ { "type": "PubMed", "id": "11994499", "url": "https://glygen.org/publication/PubMed/11994499" } ] }, { "title": "A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12032298", "url": "https://glygen.org/publication/PubMed/12032298" } ] }, { "title": "Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex.", "journal": "Nature cell biology", "date": "2002", "authors": "Brugnera E, Haney L, Grimsley C, Lu M, Walk SF, Tosello-Trampont AC, Macara IG, Madhani H, Fink GR, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12134158", "url": "https://glygen.org/publication/PubMed/12134158" } ] }, { "title": "Adaptor protein APS binds the NH2-terminal autoinhibitory domain of guanine nucleotide exchange factor Vav3 and augments its activity.", "journal": "Oncogene", "date": "2002-10-31", "authors": "Yabana Naoyuki, Shibuya Masabumi", "evidence": [ { "database": "UniProtKB", "id": "O14492", "url": "https://www.uniprot.org/uniprot/O14492" } ], "reference": [ { "type": "PubMed", "id": "12400014", "url": "https://glygen.org/publication/PubMed/12400014" } ] }, { "title": "Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12427746", "url": "https://glygen.org/publication/PubMed/12427746" } ] }, { "title": "The adapter protein APS associates with the multifunctional docking sites Tyr-568 and Tyr-936 in c-Kit.", "journal": "The Biochemical journal", "date": "2003", "authors": "Wollberg P, Lennartsson J, Gottfridsson E, Yoshimura A, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433559", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433559" } ], "reference": [ { "type": "PubMed", "id": "12444928", "url": "https://glygen.org/publication/PubMed/12444928" } ] }, { "title": "Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Naslavsky N, Boehm M, Backlund PS Jr, Caplan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15020713", "url": "https://glygen.org/publication/PubMed/15020713" } ] }, { "title": "The novel Cdc42 guanine nucleotide exchange factor, zizimin1, dimerizes via the Cdc42-binding CZH2 domain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Meller N, Irani-Tehrani M, Ratnikov BI, Paschal BM, Schwartz MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15247287", "url": "https://glygen.org/publication/PubMed/15247287" } ] }, { "title": "A phenylalanine zipper mediates APS dimerization.", "journal": "Nature structural & molecular biology", "date": "2004-10", "authors": "Dhe-Paganon Sirano, Werner Eric D, Nishi Masahiro, Hansen Lone, Chi Young-In, Shoelson Steven E", "evidence": [ { "database": "UniProtKB", "id": "O14492", "url": "https://www.uniprot.org/uniprot/O14492" } ], "reference": [ { "type": "PubMed", "id": "15378031", "url": "https://glygen.org/publication/PubMed/15378031" } ] }, { "title": "Zizimin2: a novel, DOCK180-related Cdc42 guanine nucleotide exchange factor expressed predominantly in lymphocytes.", "journal": "FEBS letters", "date": "2005", "authors": "Nishikimi A, Meller N, Uekawa N, Isobe K, Schwartz MA, Maruyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15710388", "url": "https://glygen.org/publication/PubMed/15710388" } ] }, { "title": "Structural characterization of a novel Cbl phosphotyrosine recognition motif in the APS family of adapter proteins.", "journal": "The Journal of biological chemistry", "date": "2005-05-13", "authors": "Hu Junjie, Hubbard Stevan R", "evidence": [ { "database": "iPTMnet", "id": "O14492", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14492" } ], "reference": [ { "type": "PubMed", "id": "15737992", "url": "https://glygen.org/publication/PubMed/15737992" } ] }, { "title": "Mammalian CARMIL inhibits actin filament capping by capping protein.", "journal": "Developmental cell", "date": "2005", "authors": "Yang C, Pring M, Wear MA, Huang M, Cooper JA, Svitkina TM, Zigmond SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "16054028", "url": "https://glygen.org/publication/PubMed/16054028" } ] }, { "title": "Signaling by Kit protein-tyrosine kinase--the stem cell factor receptor.", "journal": "Biochem. 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"authors": "Sun J, Pedersen M, Bengtsson S, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433559", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433559" } ], "reference": [ { "type": "PubMed", "id": "17904548", "url": "https://glygen.org/publication/PubMed/17904548" } ] }, { "title": "Adaptor protein Lnk associates with Tyr(568) in c-Kit.", "journal": "The Biochemical journal", "date": "2008", "authors": "Gueller S, Gery S, Nowak V, Liu L, Serve H, Koeffler HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1433559", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1433559" } ], "reference": [ { "type": "PubMed", "id": "18588518", "url": "https://glygen.org/publication/PubMed/18588518" } ] }, { "title": "Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F.", "journal": "Journal of leukocyte biology", "date": "2009", "authors": "Gery S, Cao Q, Gueller S, Xing H, Tefferi A, Koeffler HP", "evidence": [ { "database": 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