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 Erythrocytosis, Familial, 1. Among its related pathways are Signaling by GPCR and Development EPO-induced Jak-STAT pathway. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and phosphate ion binding. An important paralog of this gene is SH2B1.
UniProtKB/Swiss-Prot Summary for SH2B3 Gene
Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.