Disease:Defects in CD2AP are the cause of susceptibility to focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832]. FSGS3 is a common renal lesion characterized by increased urinary protein excretion and decreasing kidney function. Renal insufficiency often progresses to end-stage renal failure, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS is defined by the presence of segmental sclerosis in glomeruli, and is seen in all ethnic groups, although it is particularly common in individuals of African descent. FSGS occurs as an isolated primary condition or secondary to disorders as HIV infection, obesity, hypertension and diabetes. FSGS may also be inherited as a mendelian trait.,Domain:Potential homodimerization is mediated by the coiled coil domain.,Domain:The Pro-rich domain may mediate binding to SH3 domains.,Function:Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. 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.,PTM:Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src.,similarity:Contains 3 SH3 domains.,subcellular location:Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles. 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.,subunit:Self-associates. Homodimer (Potential). Interacts (via SH3 2 domain) with CBL (via phosphorylated C-terminus). Interacts with BCAR1/p130Cas (via SH3 domain). Interacts with F-actin, PKD2, NPHS1 and NPHS2. Interacts with WTIP (By similarity). Interacts with FAM125A and ARHGAP17. Interacts with ANLN, CD2 and CBLB. Interacts with PDCD6IP and TSG101. Interacts with DDN; interaction is direct.,tissue specificity:Widely expressed in fetal and adult tissues.,
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