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
- sex-1
- Caenorhabditis elegans
- nhr-38
- Danio rerio
- ppardb
- 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