SH3BP2, Official Symbol SH3BP2provided by HGNC Official Full Name SH3 domain binding protein 2provided by HGNC Primary source HGNC:HGNC:10825 See related Ensembl:ENSG00000087266 MIM:602104; AllianceGenome:HGNC:10825 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 3BP2; CRBM; CRPM; 3BP-2; RES4-23 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, Mar 2009] Expression Ubiquitous expression in spleen (RPKM 16.5), skin (RPKM 14.5) and 25 other tissues See more Orthologs mouse all