Entrez gene ID | | 6452 |
Official gene symbol | | SH3BP2 |
Full name | | SH3-domain binding protein 2 |
Aliases | | ,3BP2,CRBM,CRPM,FLJ42079,FLJ54978,RES4-23, |
Gene summary | | 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] |
Location | | Chromosome: 4 Locus: 4p16.3 |
Gene position | | 2794750 - 2842823 Map Viewer |
Gene orientation | | plus |
Gene size | | 48074 bp |
Gene sequence |
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OMIM ID | | 602104 |
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