Aliases for SH2B3 Gene
External Ids for SH2B3 Gene
Previous GeneCards Identifiers for SH2B3 Gene
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]
GeneCards Summary for SH2B3 Gene
SH2B3 (SH2B Adaptor Protein 3) is a Protein Coding gene. Diseases associated with SH2B3 include Thrombocythemia 1 and Myelofibrosis With Myeloid Metaplasia, Somatic. Among its related pathways are Development EPO-induced Jak-STAT pathway and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include signal transducer activity and phosphate ion binding. An important paralog of this gene is SH2B1.
UniProtKB/Swiss-Prot for SH2B3 Gene
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.