CD2AP

Chr 6

CD2 associated protein

Also known as: CMS

NCBI Gene: 23607 ENSG00000198087 UniProt: Q9Y5K6

CD2AP encodes an adapter protein that links membrane proteins to the actin cytoskeleton and is essential for anchoring the podocyte slit diaphragm to the actin cytoskeleton in renal glomeruli. Mutations cause focal segmental glomerulosclerosis type 3, a kidney disease that can progress to renal failure. This condition follows an autosomal recessive inheritance pattern.

ResearchSummary from OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFocal segmental glomerulosclerosis 3

Clinical highlights

Gene-disease validity (ClinGen)

focal segmental glomerulosclerosis 3, susceptibility to · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.41

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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