LongevityMap Gene
Gene details
- HGNC symbol
- CELSR1
- Aliases
- ME2; FMI2; CDHF9; HFMI2; ADGRC1
- Common name
- cadherin EGF LAG seven-pass G-type receptor 1
- Description
- The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 22q13.31
- UCSC Genome Browser
- View 22q13.31 on the UCSC genome browser
- OMIM
- 604523
- Ensembl
- ENSG00000075275
- UniProt/Swiss-Prot
- CELR1_HUMAN
- Entrez Gene
- 9620
- UniGene
- 252387
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- fmi-1
- Danio rerio
- celsr1a
- Danio rerio
- celsr1b
- Drosophila melanogaster
- stan
- Mus musculus
- Celsr1
- Rattus norvegicus
- Celsr1
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- German
- Study Design
- Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
- Conclusions
- Thirty-two SNPs previously associated with longevity were not associated with longevity in this study
- Indentifier
- rs9615362
- Reference