SH2B3

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.

Full Name

SH2B Adaptor Protein 3

Function

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

Biological Process

Biological Process cellular response to chemokineISS:ARUK-UCL
Biological Process cellular response to interleukin-3ISS:ARUK-UCL
Biological Process embryonic hemopoiesisISS:BHF-UCL
Biological Process erythrocyte developmentManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process hematopoietic stem cell differentiationIEA:Ensembl
Biological Process intracellular signal transductionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process megakaryocyte developmentISS:ARUK-UCL
Biological Process monocyte homeostasisBy SimilarityISS:BHF-UCL
Biological Process negative regulation of cell population proliferationISS:ARUK-UCL
Biological Process negative regulation of chemokine-mediated signaling pathwayISS:ARUK-UCL
Biological Process negative regulation of Kit signaling pathwayISS:BHF-UCL
Biological Process negative regulation of MAP kinase activityISS:ARUK-UCL
Biological Process negative regulation of platelet aggregationBy SimilarityISS:BHF-UCL
Biological Process negative regulation of protein kinase B signalingISS:ARUK-UCL
Biological Process negative regulation of receptor signaling pathway via JAK-STATManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of response to cytokine stimulusManual Assertion Based On ExperimentIMP:ARUK-UCL
Biological Process negative regulation of tyrosine phosphorylation of STAT proteinISS:ARUK-UCL
Biological Process neutrophil homeostasisBy SimilarityISS:BHF-UCL
Biological Process thrombopoietin-mediated signaling pathwayManual Assertion Based On ExperimentIDA:ARUK-UCL

Cellular Location

cytosol
plasma membrane

Involvement in disease

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.
Diabetes mellitus, insulin-dependent (IDDM):
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.

PTM

Tyrosine phosphorylated by LCK.