LongevityMap Gene

Gene details

HGNC symbol
PPARD 
Aliases
FAAR; NUC1; NUCI; NR1C2; NUCII; PPARB 
Common name
peroxisome proliferator activated receptor delta 
Description
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Cytogenetic Location
6p21.31
UCSC Genome Browser
View 6p21.31 on the UCSC genome browser
OMIM
600409
Ensembl
ENSG00000112033
UniProt/Swiss-Prot
A0A024RCW6_HUMAN
Entrez Gene
5467
UniGene
696032
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
nhr-85
Danio rerio
pparda
Mus musculus
Ppard
Rattus norvegicus
Ppard

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Spanish
Study Design
The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design
Conclusions
The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
Indentifier
rs2267668
Reference