LongevityMap Gene

Gene details

HGNC symbol
CD2AP 
Aliases
CMS 
Common name
CD2 associated protein 
Description
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]
Cytogenetic Location
6p12.3
UCSC Genome Browser
View 6p12.3 on the UCSC genome browser
OMIM
604241
Ensembl
ENSG00000198087
UniProt/Swiss-Prot
CD2AP_HUMAN
Entrez Gene
23607
UniGene
485518
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
CELE_Y44E3A.4
Danio rerio
cd2ap
Mus musculus
Cd2ap
Rattus norvegicus
Cd2ap

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American, English, Irish
Study Design
10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
Conclusions
Apart APOE, no variants appeared to be associated with aging with a genome-wide level of significance
Indentifier
rs1485780
Reference