SH2B2
Description
The SH2B2 (SH2B adaptor protein 2) is a protein-coding gene located on chromosome 7.
SH2B2, also known as SH2B adapter protein 2, is a protein encoded by the SH2B2 gene in humans. It is expressed in B lymphocytes and contains pleckstrin homology (PH) and Src homology 2 (SH2) domains. In Burkitt lymphoma cell lines, SH2B2 undergoes tyrosine phosphorylation in response to B cell receptor stimulation. SH2B2 binds to Shc independently of stimulation and to Grb2 after stimulation, suggesting a role in signal transduction from the receptor to Shc/Grb2. SH2B2 interacts with TrkA and Cbl genes.
SH2B2 acts as an adapter protein for multiple tyrosine kinase receptor family members, participating in various signaling pathways. It may facilitate coupling from immunoreceptors to Ras signaling. In collaboration with CBL, SH2B2 acts as a negative regulator of cytokine signaling. It binds to the erythropoietin receptor (EPOR) and inhibits EPO-induced STAT5 activation, likely by masking STAT5 docking sites on EPOR. SH2B2 also suppresses PDGF-induced mitogenesis. Through interaction with VAV3, SH2B2 may promote cytoskeletal reorganization.
SH2B2 is also known as APS.
Associated Diseases
- common variable immunodeficiency
- substance abuse
- combined immunodeficiency with skin granulomas
- isolated agammaglobulinemia
