SH2B3

Tumour Suppressor
SH2B adapter protein 3 UniProt accession Q9UQQ2

Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase

Source: UniProt

Binds to the tyrosine-phosphorylated TCR zeta chain via its SH2 domain

Source: UniProt

Preferentially expressed by lymphoid cell lines

Source: UniProt
  • Celiac disease 13 (CELIAC13)

    A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.

  • Type 1 diabetes mellitus (T1D)

    A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Source: UniProt
  • Regulation of KIT signaling
  • Negative regulation of FLT3
  • Factors involved in megakaryocyte development and platelet production
Source: Reactome via UniProt

Mutations

Cancer Type Mutation Percentage
Central Nervous System Astrocytoma Grade Iv 0.28%
Lung Adenocarcinoma 0.09%
Lung Squamous Cell Carcinoma 0.68%
Oesophagus Adenocarcinoma 0.93%
Oesophagus Squamous Cell Carcinoma 0.12%
Pancreas Ductal Carcinoma 0.65%

Synthetic Lethal Network

Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to SH2B3, aggregated across our SSL data sources. Click any partner node to view that gene’s page.

Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.

BioGRID SLOrth SynLethDB MexDrugs Multi-source
Sources: BioGRID, SLOrth, SynLethDB, MexDrugs

Clinical Trials

No clinical trials information available.