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Description

CD2-associated protein (UniProt Q9Y5K6, also known as Adapter protein CMS, Cas ligand with multiple SH3 domains) is encoded by the CD2AP (also known as CMS) gene (Gene ID 23607) in human. CD2AP is an adapter protein expressed in all tissues except brain. CD2AP harbors three SH3 domains at its N-terminal, a proline-rich domain, and a C-terminal leucine-zipper domain that mediates CD2AP homodimerization. CD2AP is known to interact with actin-associated proteins, such as cortactin, and actin capping protein CAPZ. The SH3 domains of CD2AP mediate its association to the hypervariable C terminal region of Rac1, allowing CD2AP to act as a linker between Rac1 and the actin-binding proteins cortactin and CAPZ. CD2AP also plays an important role in the formation of the slit diaphragm in the kidney glomerulus between podocyte foot processes by linking the cell-cell adhesion protein nephrin to the cytoskeleton. CD2AP gene mutations are associated with kidney diseases such as sporadic nephrotic syndrome and focal segmental glomerulosclerosis.