CD2AP

This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease.^[6]

CD2AP has been shown to interact with:

• Cbl gene,^[7][8][9]
• NPHS2,^[10]
• Nephrin,^[11] and
• RAB4A.^[9]

• Focal segmental glomerulosclerosis