CD2AP

CD2AP (CD2 Associated Protein) is a Protein Coding gene. Diseases associated with CD2AP include Focal Segmental Glomerulosclerosis 3 and Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin interactions. 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.

Full Name

CD2 associated protein

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).

Biological Process

Actin filament organization Source: UniProtKB
Cell-cell adhesion Source: Ensembl
Cell cycle Source: UniProtKB-KW
Cell division Source: UniProtKB-KW
Negative regulation of small GTPase mediated signal transduction Source: UniProtKB
Negative regulation of transforming growth factor beta1 production Source: Ensembl
Positive regulation of protein localization to nucleus Source: Ensembl
Positive regulation of protein secretion Source: UniProtKB
Proteasome-mediated ubiquitin-dependent protein catabolic process Source: Ensembl
Protein-containing complex assembly Source: ProtInc
Regulation of actin cytoskeleton reorganization Source: Ensembl
Regulation of receptor-mediated endocytosis Source: Ensembl
Signal transduction Source: ProtInc
Substrate-dependent cell migration, cell extension Source: ProtInc
Vesicle organization Source: Ensembl

Cellular Location

Cytoskeleton; 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).

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.

PTM

Phosphorylated on tyrosine residues; probably by c-Abl, Fyn and c-Src.