CD2-Associated Protein (CD2AP) Antibody – Rabbit Polyclonal

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]

CD2AP: 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. Required for cytokinesis. Links CD2 engagement to the WASp-evoked actin polymerization required for synapse formation and T cell activation. Attaches to membrane proteins via its three SH3 domains and attaches to and rearranges the cytoskeleton via its C-terminus. CD2AP?s interactions with the cytoskeleton result in receptor clustering and endocysosis as well as targeting proteins to degradative vesicles in the kidney. Mice carrying a heterozygous knockout of CD2AP show defects in kidney filtration, and mutations in the human gene are associated with focal segmental glomerulosclerosis (FSGS3).

Protein type: Adaptor/scaffold; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 6p12

Cellular Component: filamentous actin; ruffle; cytoplasm; plasma membrane; nucleolus; intercellular junction; actin cytoskeleton

Molecular Function: protein binding; structural constituent of cytoskeleton; SH3 domain binding

Biological Process: mitosis; cell division; protein complex assembly; signal transduction; substrate-bound cell migration, cell extension; negative regulation of transforming growth factor-beta1 production

Disease: Focal Segmental Glomerulosclerosis 3, Susceptibility To