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
Mus musculus
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