PPARD
peroxisome proliferator activated receptor delta
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]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9658055 | 6:35,309,263 | G/A | upstream gene variant | — |
| rs7744392 | 6:35,322,763 | A/G | regulatory region variant | — |
| rs9470004 | 6:35,341,850 | C/T | intron variant | — |
| rs116218317 | 6:35,342,090 | C/G | — | — |
| rs10080411 | 6:35,343,055 | T/C | intron variant | — |
| rs7770619 | 6:35,350,042 | C/T | intron variant | — |
| rs56807241 | 6:35,351,450 | G/C | — | — |
| rs6922548 | 6:35,353,523 | A/G | regulatory region variant | — |
| rs16868709 | 6:35,354,471 | C/A | — | — |
| rs150178349 | 6:35,355,867 | A/G | intron variant | — |
| rs3777744 | 6:35,356,143 | A/T | — | — |
| rs3798343 | 6:35,357,693 | C/G | intron variant | — |
| rs7769719 | 6:35,362,525 | G/T | — | — |
| rs9368865 | 6:35,363,736 | C/T | intron variant | — |
| rs9658108 | 6:35,363,757 | C/G | intron variant | — |
| rs9658111 | 6:35,364,534 | G/C | intron variant | — |
| rs1883322 | 6:35,369,806 | C/A | — | — |
| rs2267666 | 6:35,370,728 | A/T | regulatory region variant | — |
| rs2267668 | 6:35,377,922 | G/A | intron variant | — |
| rs2016520 | 6:35,378,778 | C/A | — | — |
| rs200600159 | 6:35,378,898 | C/T | — | uncertain significance |
| rs1456950844 | 6:35,378,925 | G/C | — | uncertain significance |
| rs772723177 | 6:35,378,983 | G/A | — | uncertain significance |
| rs2299870 | 6:35,384,937 | C/G | intron variant | — |
| rs2299871 | 6:35,385,243 | C/T | intron variant | — |
| rs776031687 | 6:35,387,969 | T/G | — | uncertain significance |
| rs201359132 | 6:35,387,975 | G/A | — | uncertain significance |
| rs753868321 | 6:35,388,005 | G/A | — | uncertain significance |
| rs2076169 | 6:35,388,479 | A/C | — | — |
| rs765360583 | 6:35,389,619 | G/A | — | uncertain significance |
| rs1766392380 | 6:35,391,771 | C/T | — | uncertain significance |
| rs2076167 | 6:35,391,787 | C/G | missense variant | — |
| rs1179821358 | 6:35,391,805 | C/A | — | uncertain significance |
| rs2533558039 | 6:35,391,872 | A/G | — | uncertain significance |
| rs766827287 | 6:35,391,921 | C/G | — | uncertain significance |
| rs761749779 | 6:35,392,121 | G/A | — | uncertain significance |
| rs1388342390 | 6:35,392,367 | A/G | — | uncertain significance |
| rs199911002 | 6:35,392,370 | G/A | — | uncertain significance |
| rs756560599 | 6:35,392,431 | G/A | — | uncertain significance |
| rs762834983 | 6:35,393,629 | G/A | — | uncertain significance |
| rs144211994 | 6:35,393,656 | A/T | — | uncertain significance |
| rs201961545 | 6:35,393,764 | G/A | — | uncertain significance |
| rs144732727 | 6:35,393,813 | C/T | — | likely benign |
| rs3734254 | 6:35,395,010 | C/T | 3 prime UTR variant | — |
| rs1053049 | 6:35,395,618 | C/A | — | — |
| rs9794 | 6:35,395,795 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.