CD2AP (Entrez ID: 23607)

Entrez Gene ID 23607
Official Gene Symbol CD2AP (GeneCards)
Full name CD2 associated protein
Location 6p12.3
Other ids Vega : OTTHUMG00000014799
MIM : 604241
HGNC : HGNC:14258
Ensembl : ENSG00000198087
Other names CMS
Summary 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. [provided by RefSeq, Jul 2008]

Variants

Found 1 variant in this database.