Aliases for CD2AP Gene
External Ids for CD2AP Gene
Previous GeneCards Identifiers for CD2AP Gene
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]
GeneCards Summary for CD2AP Gene
CD2AP (CD2 Associated Protein) is a Protein Coding gene. Diseases associated with CD2AP include Focal Segmental Glomerulosclerosis 3 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Nephrin/Neph1 signaling in the kidney podocyte and Cell junction organization. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and structural constituent of cytoskeleton. An important paralog of this gene is SH3KBP1.
UniProtKB/Swiss-Prot Summary for CD2AP Gene
Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260).