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. [provided by RefSeq, Jul 2008]

Description

CD2-associated protein

Protein family

Mapped to UniProt SWISS-PROT, SH3-domain containing proteins

Chromosome

6:p12.3 (47445525 - 47594999)

Ensembl ID

ENSG00000198087  (ver. 71.37)

Orthologs

Mouse Cd2ap: ENSMUSG00000061665

Human splice variants
Mouse splice variants