PPARD peroxisome proliferator activated receptor delta
Gene ID: 5467, updated on 27-Aug-2024Gene type: protein coding
Also known as: FAAR; NUC1; NUCI; NR1C2; NUCII; PPARB
- See all available tests in GTR for this gene
- Go to complete Gene record for PPARD
- Go to Variation Viewer for PPARD variants
Summary
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. GeneReviews: Not available | |
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available | |
| Novel susceptibility genes associated with diabetic cataract in a Taiwanese population. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.31
- Sequence:
- Chromosome: 6; NC_000006.12 (35342558..35428178)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPARD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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