CD2AP (CD2 associated protein)

CD2AP gene encodes for an adaptor protein with high homology to Cin85. It was originally cloned as CD2 interacting protein and, in an independent study, as p130-Cas interacting protein. It contains three SH3 domains, a proline-rich motif and a coiled-coil domain that allow it to form complexes with numerous proteins and to participate in different physiological processes. Several evidences suggest that it links cell surface proteins and specialized junctions with the actin cytoskeleton and that it regulates the assembly of actin filaments to guide cell shape and movements. Notably, CD2AP plays a crucial role in the glomerular cells differentiation and in the maintenance of the kidney filtration barrier, and CD2AP-deficient mice die of renal failure before the age of six weeks. Mutations resulting in a lower expression of CD2AP were found in FSGS kidney disease patients. It is also involved in neuronal disorders and two single nucleotide polymorphisms of the gene have been associated with increased risk of Alzheimer' s disease. Finally, although the protein is expressed in the majority of the cell types, it was proposed as optimal marker for BPDCN hematological malignancy.