{ "uniprot_canonical_ac": "Q9NRF2-1", "uniprot_ac": "Q9NRF2", "uniprot_id": "SH2B1_HUMAN", "mass": { "chemical_mass": 79366.0, "monoisotopic_mass": 79366.0 }, "refseq": { "ac": "NP_001139267", "name": "SH2B adapter protein 1 isoform 1", "summary": "This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, "gene_names": [ { "name": "SH2B1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "id": "Q9NRF2" }, { "name": "KIAA1299", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "id": "Q9NRF2" }, { "name": "PSM; SH2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "id": "NP_001139267" }, { "name": "SH2B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "id": "NP_001139267" }, { "name": "SH2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "id": "Q9NRF2" } ], "protein_names": [ { "name": "SH2B adapter protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9NRF2" }, { "name": "PSM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NRF2" }, { "name": "Pro-rich, PH and SH2 domain-containing signaling mediator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NRF2" }, { "name": "SH2 domain-containing protein 1B; pro-rich, PH and SH2 domain-containing signaling mediator; SH2-B signaling protein; SH2 domain-containing putative adapter SH2-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "id": "NP_001139267" }, { "name": "SH2 domain-containing protein 1B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9NRF2" }, { "name": "SH2B adapter protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "id": "NP_001139267" } ], "function": [ { "annotation": "Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on 'Ser-473' and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2#function" }, { "database": "PubMed", "id": "16569669", "url": "https://glygen.org/publication/PubMed/16569669" }, { "database": "PubMed", "id": "17471236", "url": "https://glygen.org/publication/PubMed/17471236" }, { "database": "PubMed", "id": "9694882", "url": "https://glygen.org/publication/PubMed/9694882" }, { "database": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" }, { "database": "PubMed", "id": "14565960", "url": "https://glygen.org/publication/PubMed/14565960" }, { "database": "PubMed", "id": "11827956", "url": "https://glygen.org/publication/PubMed/11827956" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "annotation": "Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "32365683", "url": "https://glygen.org/publication/PubMed/32365683" } ] }, { "annotation": "Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "37586323", "url": "https://glygen.org/publication/PubMed/37586323" } ] }, { "annotation": "Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "34689140", "url": "https://glygen.org/publication/PubMed/34689140" } ] }, { "annotation": "Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "33356989", "url": "https://glygen.org/publication/PubMed/33356989" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "17228025", "url": "https://glygen.org/publication/PubMed/17228025" } ] }, { "annotation": "SH2-B or APS homodimerization and SH2-B/APS heterodimerization thus provide direct mechanisms for activating and inhibiting Janus kinase 2", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "annotation": "SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" }, { "database": "PubMed", "id": "36436143", "url": "https://glygen.org/publication/PubMed/36436143" } ] }, { "annotation": "This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 29, "end_pos": 29, "sequence_org": "F", "sequence_mut": "R", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "A", "sequence_mut": "D", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 38, "end_pos": 38, "sequence_org": "A", "sequence_mut": "D", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 41, "end_pos": 41, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 42, "end_pos": 42, "sequence_org": "A", "sequence_mut": "D", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 555, "end_pos": 555, "sequence_org": "R", "sequence_mut": "A", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 68, "end_pos": 68, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "F", "sequence_mut": "A", "comment": "Abolishes self-association and interaction with INSR and IGF1R.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "15767667", "url": "https://glygen.org/publication/PubMed/15767667" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "89.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "82.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "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": 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"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 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"https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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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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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "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": "Q9NRF2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9NRF2" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "common_name": "Human" } ], "gene": [ { "name": "SH2B1", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "locus": { "chromosome": "16", "start_pos": 28874212, "end_pos": 28846600, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000178188", "url": "https://www.ensembl.org/id/ENSG00000178188" } ] } } ], "crossref": [ { "id": "ENSG00000178188", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178188", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd01231", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01231", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd10346", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd10346", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SH2B1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SH2B1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "25970", "url": "https://www.ncbi.nlm.nih.gov/gene/25970", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "30417", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30417", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q9NRF2", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9NRF2*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000980", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000980", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015012", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015012", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030523", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030523", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036290", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036290", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036860", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036860", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:25970", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:25970", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608937", "url": "http://www.omim.org/entry/608937", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q9NRF2", "url": "https://www.nextprot.org/entry/NX_Q9NRF2", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "AFSHRFV", "url": "https://omabrowser.org/oma/group/AFSHRFV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2995825at2759", "url": "http://www.orthodb.org/?query=2995825at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10872", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10872", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10872:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10872:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5W3R", "url": "https://www.rcsb.org/structure/5W3R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00017", "url": "http://pfam.xfam.org/family/PF00017", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00169", "url": "http://pfam.xfam.org/family/PF00169", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08916", "url": "http://pfam.xfam.org/family/PF08916", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9NRF2", "url": "https://pharos.nih.gov/targets/Q9NRF2", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9NRF2", "url": "http://purl.obolibrary.org/obo/PR_Q9NRF2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "B4DLN5", "url": "https://www.uniprot.org/uniprot/B4DLN5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DLN5-1", "url": "https://www.uniprot.org/uniprot/B4DLN5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXU7", "url": "https://www.uniprot.org/uniprot/F5GXU7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXU7-1", "url": "https://www.uniprot.org/uniprot/F5GXU7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMY3", "url": "https://www.uniprot.org/uniprot/H3BMY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMY3-1", "url": "https://www.uniprot.org/uniprot/H3BMY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPB4", "url": "https://www.uniprot.org/uniprot/H3BPB4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPB4-1", "url": "https://www.uniprot.org/uniprot/H3BPB4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPZ4", "url": "https://www.uniprot.org/uniprot/H3BPZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPZ4-1", "url": "https://www.uniprot.org/uniprot/H3BPZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTK4", "url": "https://www.uniprot.org/uniprot/H3BTK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTK4-1", "url": "https://www.uniprot.org/uniprot/H3BTK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUN7", "url": "https://www.uniprot.org/uniprot/H3BUN7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUN7-1", "url": "https://www.uniprot.org/uniprot/H3BUN7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVF6", "url": "https://www.uniprot.org/uniprot/H3BVF6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVF6-1", "url": "https://www.uniprot.org/uniprot/H3BVF6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NRF2-1", "url": "https://www.uniprot.org/uniprot/Q9NRF2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NRF2-2", "url": "https://www.uniprot.org/uniprot/Q9NRF2-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9NRF2-3", "url": "https://www.uniprot.org/uniprot/Q9NRF2-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQEPTTSHDPPQPPEPPSWTDPPQPGAEEASRAPEVAAAAAAAAKERQEKEKAGGGGVPEELVPVVELVPVVELEEAIAPGSEAQGAGSGGDAGVPPMVQLQQSPLGGDGEEGGHPRAINNQYSFV", "length": 756, "header": "sp|Q9NRF2-1|SH2B1_HUMAN Isoform 1 of SH2B adapter protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=3 CANONICAL=Q9NRF2-1" }, "isoforms": [ { "isoform_ac": "B4DLN5-1", "url": "", "sequence": { "sequence": "MPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQGREQAGSHAGVCEGDGCHPDASCTLMPFGASDCVTDHLP", "length": 335, "header": "tr|B4DLN5-1|B4DLN5_HUMAN Computationally mapped isoform of cDNA FLJ59336, highly similar to Homo sapiens SH2-B homolog (SH2B), mRNA OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873462, "end_pos": 28867400, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538342.5", "url": "https://www.ensembl.org/id/ENST00000538342.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438784.1", "url": "https://www.ensembl.org/id/ENSP00000438784.1" } ] } }, { "isoform_ac": "F5GXU7-1", "url": "", "sequence": { "sequence": "MAEASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQGEQSRSAGEEVPVHPRSEAGSRLGAMRGCAREMDATPMPPAPSCPSERVTV", "length": 373, "header": "tr|F5GXU7-1|F5GXU7_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873269, "end_pos": 28863746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545570.5", "url": "https://www.ensembl.org/id/ENST00000545570.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440354.1", "url": "https://www.ensembl.org/id/ENSP00000440354.1" } ] } }, { "isoform_ac": "H3BMY3-1", "url": "", "sequence": { "sequence": "MPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEG", "length": 122, "header": "tr|H3BMY3-1|H3BMY3_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28871913, "end_pos": 28867400, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000561629.1", "url": "https://www.ensembl.org/id/ENST00000561629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454601.1", "url": "https://www.ensembl.org/id/ENSP00000454601.1" } ] } }, { "isoform_ac": "H3BPB4-1", "url": "", "sequence": { "sequence": "MTLPLAPGTSFLTRENTD", "length": 18, "header": "tr|H3BPB4-1|SH2B1_HUMAN Computationally mapped isoform of SH2B adapter protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28869289, "end_pos": 28869236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567536.5", "url": "https://www.ensembl.org/id/ENST00000567536.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455236.1", "url": "https://www.ensembl.org/id/ENSP00000455236.1" } ] } }, { "isoform_ac": "H3BPZ4-1", "url": "", "sequence": { "sequence": "SAGPLETSSGPPVLDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYP", "length": 182, "header": "tr|H3BPZ4-1|H3BPZ4_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28871955, "end_pos": 28866635, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566176.5", "url": "https://www.ensembl.org/id/ENST00000566176.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455534.1", "url": "https://www.ensembl.org/id/ENSP00000455534.1" } ] } }, { "isoform_ac": "H3BTK4-1", "url": "", "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYA", "length": 56, "header": "tr|H3BTK4-1|H3BTK4_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=8 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28866262, "end_pos": 28866095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566209.1", "url": "https://www.ensembl.org/id/ENST00000566209.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457214.1", "url": "https://www.ensembl.org/id/ENSP00000457214.1" } ] } }, { "isoform_ac": "H3BUN7-1", "url": "", "sequence": { "sequence": "XWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQGEQSRSAGEEVPVHPRSENRPPPMTHPSPLNPLHGQIPHSLGQKRRRGRQKWRQQQPQQPKRGKRKRKRAVEGSRKSWSPWLSWSPWLNWKRP", "length": 200, "header": "tr|H3BUN7-1|H3BUN7_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873672, "end_pos": 28872253, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569651.1", "url": "https://www.ensembl.org/id/ENST00000569651.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457724.1", "url": "https://www.ensembl.org/id/ENSP00000457724.1" } ] } }, { "isoform_ac": "H3BVF6-1", "url": "", "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAA", "length": 63, "header": "tr|H3BVF6-1|H3BVF6_HUMAN Computationally mapped isoform of SH2B adaptor protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=1 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28866283, "end_pos": 28866095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563591.5", "url": "https://www.ensembl.org/id/ENST00000563591.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458097.1", "url": "https://www.ensembl.org/id/ENSP00000458097.1" } ] } }, { "isoform_ac": "Q9NRF2-1", "url": "", "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQEPTTSHDPPQPPEPPSWTDPPQPGAEEASRAPEVAAAAAAAAKERQEKEKAGGGGVPEELVPVVELVPVVELEEAIAPGSEAQGAGSGGDAGVPPMVQLQQSPLGGDGEEGGHPRAINNQYSFV", "length": 756, "header": "sp|Q9NRF2-1|SH2B1_HUMAN Isoform 1 of SH2B adapter protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=3 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873817, "end_pos": 28866095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000322610.12", "url": "https://www.ensembl.org/id/ENST00000322610.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000321221.7", "url": "https://www.ensembl.org/id/ENSP00000321221.7" } ] } }, { "isoform_ac": "Q9NRF2-2", "url": "", "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQGREQAGSHAGVCEGDGCHPDASCTLMPFGASDCVTDHLP", "length": 671, "header": "sp|Q9NRF2-2|SH2B1_HUMAN Isoform 2 of SH2B adapter protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=3 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873462, "end_pos": 28866095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000395532.8", "url": "https://www.ensembl.org/id/ENST00000395532.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000378903.4", "url": "https://www.ensembl.org/id/ENSP00000378903.4" } ] } }, { "isoform_ac": "Q9NRF2-3", "url": "", "sequence": { "sequence": "MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPSQDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDMLEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQGEQSRSAGEEVPVHPRSEAGSRLGAMRGCAREMDATPMPPAPSCPSERVTV", "length": 683, "header": "sp|Q9NRF2-3|SH2B1_HUMAN Isoform 3 of SH2B adapter protein 1 OS=Homo sapiens OX=9606 GN=SH2B1 PE=1 SV=3 CANONICAL=Q9NRF2-1" }, "locus": { "chromosome": "16", "start_pos": 28873269, "end_pos": 28866095, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359285.10", "url": "https://www.ensembl.org/id/ENST00000359285.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352232.5", "url": "https://www.ensembl.org/id/ENSP00000352232.5" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 417, "end_pos": 417, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "site_lbl": "Ser417" }, { "start_pos": 420, "end_pos": 420, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "site_lbl": "Ser420" }, { "start_pos": 439, "end_pos": 439, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by JAK1, JAK2 and PDGFR", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "site_lbl": "Tyr439" }, { "start_pos": 494, "end_pos": 494, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine; by JAK1, JAK2", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "site_lbl": "Tyr494" }, { "start_pos": 88, "end_pos": 88, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "site_lbl": "Ser88" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "iPTMnet", "id": "Q9NRF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRF2" }, { "database": "PubMed", "id": "10473609", "url": "https://glygen.org/publication/PubMed/10473609" } ], "site_lbl": "Ser96" } ], "glycation": [], "keywords": [], "publication": [ { "title": "SH2-B, a membrane-associated adapter, is phosphorylated on multiple serines/threonines in response to nerve growth factor by kinases within the MEK/ERK cascade.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Rui L, Herrington J, Carter-Su C", "evidence": [ { "database": "iPTMnet", "id": "Q9NRF2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "10473609", "url": "https://glygen.org/publication/PubMed/10473609" } ] }, { "title": "Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.", "journal": "Mamm. Genome", "date": "1999", "authors": "Nelms K, O'Neill TJ, Li S, Hubbard SR, Gustafson TA, Paul WE", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "10594240", "url": "https://glygen.org/publication/PubMed/10594240" } ] }, { "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": "SH2-B family members differentially regulate JAK family tyrosine kinases.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "O'Brien KB, O'Shea JJ, Carter-Su C", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "11751854", "url": "https://glygen.org/publication/PubMed/11751854" } ] }, { "title": "Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.", "journal": "J. Biol. 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Proteomics", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "Properties and catalytic activities of MICAL1, the flavoenzyme involved in cytoskeleton dynamics, and modulation by its CH, LIM and C-terminal domains.", "journal": "Archives of biochemistry and biophysics", "date": "2016", "authors": "Vitali T, Maffioli E, Tedeschi G, Vanoni MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "26845023", "url": "https://glygen.org/publication/PubMed/26845023" } ] }, { "title": "Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.", "journal": "Nutrients", "date": "2020", "authors": "Perez-Diaz-Del-Campo N, Abete I, Cantero I, Marin-Alejandre BA, Monreal JI, Elorz M, Herrero JI, Benito-Boillos A, Riezu-Boj JI, Milagro FI, Tur JA, Martinez JA, Zulet MA", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ], "reference": [ { "type": "PubMed", "id": "32365683", "url": "https://glygen.org/publication/PubMed/32365683" } ] }, { "title": "Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.", "journal": "Technology in cancer research & treatment", "date": "2020", "authors": "Wu B, Ren A, Tian Y, Huang R", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ], "reference": [ { "type": "PubMed", "id": "33356989", "url": "https://glygen.org/publication/PubMed/33356989" } ] }, { "title": "Regulated expression of a gene encoding a nuclear factor, IRF-1, that specifically binds to IFN-beta gene regulatory elements.", "journal": "Cell", "date": "1988", "authors": "Miyamoto M, Fujita T, Kimura Y, Maruyama M, Harada H, Sudo Y, Miyata T, Taniguchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "3409321", "url": "https://glygen.org/publication/PubMed/3409321" } ] }, { "title": "Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.", "journal": "Hormone research in paediatrics", "date": "2022", "authors": "Giannopoulou EZ, Zorn S, Schirmer M, Herrmann G, Heger S, Reinehr T, Denzer C, Rabenstein H, Hillmer M, Sowada N, Siebert R, von Schnurbein J, Wabitsch M", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ], "reference": [ { "type": "PubMed", "id": "34689140", "url": "https://glygen.org/publication/PubMed/34689140" } ] }, { "title": "SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.", "journal": "Eating and weight disorders : EWD", "date": "2022-12", "authors": "da Fonseca Ana Carolina Proen\u00e7a, Assis Izadora Sthephanie Silva, Salum Kaio Cezar Rodrigues, Palhinha Lohanna, Abreu Gabriella Medeiros, Zembrzuski Ver\u00f4nica Marques, Campos Junior Mario, Nogueira Neto Jos\u00e9 Firmino, Mattos Fernanda Cristina C, Cambraia Amanda, Rosado Eliane Lopes, Maya-Monteiro Clarissa Menezes, Cabello Pedro Hern\u00e1n, Carneiro Jo\u00e3o Regis Ivar, Bozza Patr\u00edcia T", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ], "reference": [ { "type": "PubMed", "id": "36436143", "url": "https://glygen.org/publication/PubMed/36436143" } ] }, { "title": "Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.", "journal": "Cell reports. Medicine", "date": "2023-08-15", "authors": "Hanssen Ruth, Auwerx Chiara, J\u00f5eloo Maarja, Sadler Marie C, , Henning Elana, Keogh Julia, Bounds Rebecca, Smith Miriam, Firth Helen V, Kutalik Zolt\u00e1n, Farooqi I Sadaf, Reymond Alexandre, Lawler Katherine", "evidence": [ { "database": "RefSeq", "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267" } ], "reference": [ { "type": "PubMed", "id": "37586323", "url": "https://glygen.org/publication/PubMed/37586323" } ] }, { "title": "Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Wilson MP, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8662638", "url": "https://glygen.org/publication/PubMed/8662638" } ] }, { "title": "NF-E2 disrupts chromatin structure at human beta-globin locus control region hypersensitive site 2 in vitro.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Armstrong JA, Emerson BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8816476", "url": "https://glygen.org/publication/PubMed/8816476" } ] }, { "title": "Identification of a novel protein kinase A anchoring protein that binds both type I and type II regulatory subunits.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9065479", "url": "https://glygen.org/publication/PubMed/9065479" } ] }, { "title": "FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation.", "journal": "Cell", "date": "1997", "authors": "Tsang AP, Visvader JE, Turner CA, Fujiwara Y, Yu C, Weiss MJ, Crossley M, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9230307", "url": "https://glygen.org/publication/PubMed/9230307" } ] }, { "title": "D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9326583", "url": "https://glygen.org/publication/PubMed/9326583" } ] }, { "title": "Vertebrates have conserved capping protein alpha isoforms with specific expression patterns.", "journal": "Cell motility and the cytoskeleton", "date": "1997", "authors": "Hart MC, Korshunova YO, Cooper JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9331217", "url": "https://glygen.org/publication/PubMed/9331217" } ] }, { "title": "Structure of IRF-1 with bound DNA reveals determinants of interferon regulation.", "journal": "Nature", "date": "1998", "authors": "Escalante CR, Yie J, Thanos D, Aggarwal AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9422515", "url": "https://glygen.org/publication/PubMed/9422515" } ] }, { "title": "PSM, an insulin-dependent, pro-rich, PH, SH2 domain containing partner of the insulin receptor.", "journal": "J. Biochem.", "date": "1997", "authors": "Wang J., Hansen H., Riedel H., Yousaf N.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "9498552", "url": "https://glygen.org/publication/PubMed/9498552" } ] }, { "title": "Platelet-derived growth factor (PDGF) stimulates the association of SH2-Bbeta with PDGF receptor and phosphorylation of SH2-Bbeta.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Rui L., Carter-Su C.", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "9694882", "url": "https://glygen.org/publication/PubMed/9694882" } ] }, { "title": "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase.", "journal": "Biochem. J.", "date": "1998", "authors": "Kotani K, Wilden P, Pillay TS", "evidence": [ { "database": "UniProtKB", "id": "Q9NRF2", "url": "https://www.uniprot.org/uniprot/Q9NRF2" } ], "reference": [ { "type": "PubMed", "id": "9742218", "url": "https://glygen.org/publication/PubMed/9742218" } ] }, { "title": "FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Tevosian SG, Deconinck AE, Cantor AB, Rieff HI, Fujiwara Y, Corfas G, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9927674", "url": "https://glygen.org/publication/PubMed/9927674" } ] } ], "pathway": [ { "id": "hsa:25970", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:25970", "resource": "KEGG 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