SH2B3 Antibody – Mouse Monoclonal

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

LNK: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. 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); 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.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 12q24

Cellular Component: cytosol

Molecular Function: protein binding; signal transducer activity; protein complex binding; phosphate binding

Biological Process: embryonic hemopoiesis; cell differentiation; blood coagulation

Disease: Myelofibrosis; Erythrocytosis, Familial, 1; Thrombocythemia 1