SH2B3
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.
Overview
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
CIViC 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).
- 3 · How drugs use it
No product in this corpus aims at SH2B3 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:29605 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9UQQ2 (protein name, function text, keywords and locations (REST API)); CIViC gene SH2B3 (1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)); Open Targets ENSG00000111252 (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)); IntOGen SH2B3 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"SH2B3" OR ABSTRACT:"SH2B3" OR TITLE:"SH2B adaptor protein 3" OR ABSTRACT:"SH2B adaptor protein 3" OR TITLE:"SH2B adapter protein 3" OR ABSTRACT:"SH2B adapter protein 3" OR TITLE:"IDDM20" OR ABSTRACT:"IDDM20") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about SH2B3, not a curated reading list.
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