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
- Y44E3A.4
- Danio rerio
- cd2ap
- Drosophila melanogaster
- cindr
- 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