The adaptor protein 3BP2 (SH3-domain binding protein 2), which is encoded by the SH3BP2 locus, nucleates a signaling complex comprising ABL, SRC, VAV, and SYK, and facilitates an open active configuration of these proteins, leading to their kinase activation. Gain-of-function missense mutations in the SH3BP2 gene cause cherubism, an autosomal dominant disorder associated with severe craniofacial developmental defects in children. Previous studies have demonstrated that 3BP2 and its degradation pathway regulate bone metabolism, energy metabolism, and inflammation and that dysregulation of the 3BP2 degradation pathway is associated with human disorders. Herein, we discussed lessons from cherubism indicating that 3BP2 studies could elucidate the pathogenesis of bone loss caused by inflammation and identify suitable therapeutic targets.
ASJC Scopus subject areas
- Immunology and Allergy