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].
Matsumoto, La Rose, Kent, Wagner, Narimatsu, Levy, Omar, Tong, Krieger, Riggs, Storozhuk, Pasquale, Ventura, Yeganeh, Post, Moran, Grynpas, Wrana, Superti-Furga, Koleske, Pendergast, Rottapel: "Reciprocal stabilization of ABL and TAZ regulates osteoblastogenesis through transcription factor RUNX2." in: The Journal of clinical investigation, Vol. 126, Issue 12, pp. 4482-4496, (2016) (PubMed).
Foucault, Liu, Bernard, Deckert: "The chaperone protein 14-3-3 interacts with 3BP2/SH3BP2 and regulates its adapter function." in: The Journal of biological chemistry, Vol. 278, Issue 9, pp. 7146-53, (2003) (PubMed).
Lo, Faiyaz-Ul-Haque, Kennedy, Aviv, Tsui, Teebi: "Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism." in: American journal of medical genetics. Part A, Vol. 121A, Issue 1, pp. 37-40, (2003) (PubMed).
Imai, Kanno, Moriya, Kayano, Seino, Matsubara, Yamada: "A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism." in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, Vol. 40, Issue 6, pp. 632-8, (2003) (PubMed).