SH3BP2 phospho S427
Function
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.
Involvement in disease
Cherubism
CRBM
An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity).
Tissue Specificity
Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.
Alternative names
3BP2, RES4-23, SH3BP2, SH3 domain-binding protein 2, 3BP-2