{"entity":{"id":"sh2b3","kind":"target","name":"SH2B3","aka":["SH2B adaptor protein 3","SH2B adapter protein 3","IDDM20"],"tldr":"SH2B3 (SH2B adapter protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Myeloproliferative neoplasms, Endometrial cancer and 4 more.","summary":"Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.76, literature 0.96, genetic association 0.90, somatic mutation 0.88, animal model 0.75). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Myelodysplastic Syndromes.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29605"},{"label":"UniProt Q9UQQ2","url":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry"},{"label":"NCBI Gene 10019","url":"https://www.ncbi.nlm.nih.gov/gene/10019"},{"label":"Ensembl ENSG00000111252","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111252"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","myeloproliferative-neoplasms","endometrial","mds","leukaemia","sarcoma","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SH2B3","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29605","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQQ2","url":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SH2B3","url":"https://civicdb.org/features/7954","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000111252","url":"https://platform.opentargets.org/target/ENSG00000111252/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.63, endometrial cancer 0.59, sarcoma 0.54, non-Hodgkin lymphoma 0.52, myeloproliferative neoplasm 0.61, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen SH2B3","url":"https://www.intogen.org/search?gene=SH2B3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:29605","ensembl":"ENSG00000111252","uniprot":"Q9UQQ2","entrez":"10019","biology":"Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.63 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Myeloproliferative neoplasms: Open Targets association 0.61 with myeloproliferative neoplasm (MONDO_0020076)","Endometrial cancer: Open Targets association 0.59 with endometrial cancer (MONDO_0011962)","Myelodysplastic syndromes / neoplasms: IntOGen driver in 1 cohort (MDS)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Sarcomas: Open Targets association 0.54 with sarcoma (MONDO_0005089)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/sh2b3/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}