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SH3BP2 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.
Gene Name: | SH3-domain binding protein 2 |
Synonyms: | SH3BP2, Abl-SH3 binding protein 2, 3BP-2, 3BP2, Cherubism, CRPM, RES4-23, SH3 domain-binding protein 2, TNFAIP3 interacting protein 2, CRBM, SH3-domain binding protein 2 |
Target Sequences: | NM_003023 NP_003014.3 P78314 |
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