CD2-associated protein
Domain
The Pro-rich domain may mediate binding to SH3 domains.
Potential homodimerization is mediated by the coiled coil domain.
Function
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).
Involvement in disease
Focal segmental glomerulosclerosis 3
FSGS3
A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src.
Tissue Specificity
Widely expressed in fetal and adult tissues.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell projection
- Ruffle
- Cell junction
- Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles (PubMed:10339567). Located at podocyte slit diaphragm between podocyte foot processes (By similarity). During late anaphase and telophase, concentrates in the vicinity of the midzone microtubules and in the midbody in late telophase (PubMed:15800069).
Alternative names
CD2-associated protein, Adapter protein CMS, Cas ligand with multiple SH3 domains, CD2AP