LongevityMap variant

Entry Details

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study using 1,471 genotyped participants from the Framingham Heart Study, of which 1,173 individuals had known lifespans, plus 517 individuals from the Offspring cohort for validating connections between longevity and genetic variants
Conclusions
A total of 27 SNPs, including in CDH4, SVEP1, CACNA1C, CARS, STK24, C7orf50, PARVG, NCAM2, PPP2R2C, NLRC5, BTBD9, RAC2, TGFA, KIAA0649, ABCC4, CLSTN2, FAM19A5 and RUNX3, were identified at the intersection of various statistical procedures
Identifier
rs2024714
Cytogenetic Location
20q13.33
UCSC Genome Browser
View 20q13.33 on the UCSC genome browser

Gene details

HGNC symbol
CDH4
Aliases
CAD4; RCAD; R-CAD 
Common name
cadherin 4 
Description
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
OMIM
603006
Ensembl
ENSG00000179242
UniProt/Swiss-Prot
CADH4_HUMAN
Entrez Gene
1002
UniGene
473231
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cdh4
Mus musculus
Cdh4

References

Yashin et al. (2012)

Other variants which are also part of this study