LongevityMap Gene
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]
- Cytogenetic Location
- 1p36.11
- UCSC Genome Browser
- View 1p36.11 on the UCSC genome browser
- OMIM
- 600210
- Ensembl
- ENSG00000020633
- UniProt/Swiss-Prot
- A0A024RAH4_HUMAN
- Entrez Gene
- 864
- UniGene
- 170019
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- rnt-1
- Danio rerio
- runx3
- Drosophila melanogaster
- RunxA
- Drosophila melanogaster
- run
- Drosophila melanogaster
- lz
- Drosophila melanogaster
- RunxB
- Mus musculus
- Runx3
- Rattus norvegicus
- Runx3
Studies (1)
Significant/Non-significant: 1/0
- 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
- Indentifier
- rs4648884
- Reference