Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Preferentially expressed by lymphoid cell lines.
Involvement in disease
Genetic variations in SH2B3 are associated with susceptibility to celiac disease type 13 (CELIAC13)[MIM:612011]; also known as susceptibility to gluten-sensitive enteropathy type 13. Celiac disease is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins. In its classic form, celiac disease is characterized in children by malabsorption and failure to thrive. Genetic variations in SH2B3 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100]; also known as diabetes mellitus type 1. IDDM normally starts in childhood or adolescence and is caused by the body's own immune system which destroys the insulin-producing beta cells in the pancreas. Classical features are polydipsia, polyphagia and polyuria, due to hyperglycemia-induced osmotic diuresis.
Belongs to the SH2B adapter family. Contains 1 PH domain. Contains 1 SH2 domain.