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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.
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.
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.
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.
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).
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.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SH2B3: RNA tissue enhanced (bone marrow 57 nTPM); high antibody staining in 30 normal tissues; highest cancer staining glioma (10 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Myeloid neoplasms, Endometrial cancer, Leukaemia, Sarcomas (soft tissue, bone, GIST), Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (myeloproliferative disorder, colorectal cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9UQQ2; CIViC gene SH2B3; IntOGen SH2B3; Human Protein Atlas SH2B3 tissue; Open Targets ENSG00000111252 associations
First described 1998. Earliest sequence paper UniProt cites for the protein: Bartholomew M.A. et al, 1998, "Characterisation of human Lnk a lymphocyte adaptor protein with a multiple domain structure". Source.
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)
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).
RNA: tissue enhanced (bone marrow 57 nTPM), detected in all normal tissues.
Medium: Adrenal gland, Liver, Ovary, Prostate, Salivary gland, Small intestine, Smooth muscle, Stomach.
Medium only: stomach cancer, thyroid cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.
Shares Myelodysplastic syndromes / neoplasms (MDS), Leukaemia (all types), Endometrial cancer, Sarcomas (soft tissue, bone, GIST).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Sarcomas (soft tissue, bone, GIST).
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Leukaemia (all types), Endometrial cancer, CIViC, IntOGen.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Endometrial cancer, Sarcomas (soft tissue, bone, GIST).
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC, IntOGen.
Shares Leukaemia (all types), Endometrial cancer, Sarcomas (soft tissue, bone, GIST), CIViC.