Entrez gene ID | | 23607 |
Official gene symbol | | CD2AP |
Full name | | CD2-associated protein |
Aliases | | ,CMS,DKFZp586H0519, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6p12 |
Gene position | | 47445525 - 47594999 Map Viewer |
Gene orientation | | plus |
Gene size | | 149475 bp |
Gene sequence |
| |
OMIM ID | | 604241 |
|