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
rs4648884
Cytogenetic Location
1p36.11
UCSC Genome Browser
View 1p36.11 on the UCSC genome browser

Gene details

HGNC symbol
RUNX3
Aliases
AML2; CBFA3; PEBP2aC 
Common name
runt related transcription factor 3 
Description
This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
OMIM
600210
Ensembl
ENSG00000020633
UniProt/Swiss-Prot
A0A024RAH4_HUMAN
Entrez Gene
864
UniGene
170019
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rnt-1
Danio rerio
runx3
Drosophila melanogaster
RunxB
Mus musculus
Runx3
Rattus norvegicus
Runx3

References

Yashin et al. (2012)

Other variants which are also part of this study