Recombinant Human CD2-associated protein (CD2AP)

Uniprot Id

Q9Y5K6

Target Species

Human

Target Name

CD2AP

Target Full Name

CD2-associated protein

Target Function

Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. 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. May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis. Plays a role in epithelial cell junctions formation.

Target Involvement

Focal segmental glomerulosclerosis 3 (FSGS3)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell junction.

Target Tissue Specificity

Widely expressed in fetal and adult tissues.

Target Synonyms

Adapter protein CMS; AL024079; C78928 ; Cas ligand with multiple SH3 domains; CD2 associated protein; CD2-associated protein; CD2AP; CD2AP_HUMAN; CMS; Mesenchyme to epithelium transition protein with SH3 domains 1; METS 1; Mets1

Target Background

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.