SH3 domain-binding protein 2
The SH3BP2 gene encodes a regulatory protein which by binding to an SH3 domain regululate phosphokinase and transcription funktion. Mutations cause autosomal dominant and recessive cherubism.
Bell SM et al. (1997) Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.
Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.
Update: Aug. 14, 2020