LongevityMap Gene
Gene details
- HGNC symbol
- NFAT5
- Aliases
- NFATZ; OREBP; NF-AT5; NFATL1; TONEBP
- Common name
- nuclear factor of activated T-cells 5
- Description
- The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 16q22.1
- UCSC Genome Browser
- View 16q22.1 on the UCSC genome browser
- OMIM
- 604708
- Ensembl
- ENSG00000102908
- UniProt/Swiss-Prot
- A0A024R734_HUMAN
- Entrez Gene
- 10725
- UniGene
- 371987
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- nfat5a
- Danio rerio
- nfat5b
- Drosophila melanogaster
- NFAT
- Mus musculus
- Nfat5
- Rattus norvegicus
- Nfat5
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs2965757
- Reference