Aliases for SH3BP2 Gene
External Ids for SH3BP2 Gene
Previous GeneCards Identifiers for SH3BP2 Gene
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
GeneCards Summary for SH3BP2 Gene
SH3BP2 (SH3 Domain Binding Protein 2) is a Protein Coding gene. Diseases associated with SH3BP2 include cherubism and autoinflammation, antibody deficiency, and immune dysregulation syndrome. Among its related pathways are B Cell Receptor Signaling Pathway (WikiPathways) and TCR signaling in naive CD4+ T cells. GO annotations related to this gene include SH3 domain binding and SH3/SH2 adaptor activity.
UniProtKB/Swiss-Prot for SH3BP2 Gene
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.