CD2AP

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]

Description

CD2 associated protein

Tissue specificity

Low tissue specificity

Subcell location

Plasma membrane, Centriolar satellite

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

6 (47477789 - 47627263)

Ensembl ID

ENSG00000198087  (ver. 103.38)

Orthologs

Mouse Cd2ap: ENSMUSG00000061665

UniProt

Q9Y5K6

neXtProt

NX_Q9Y5K6

Human splice variants
Mouse splice variants

Protein structure