NR1I3
nuclear receptor subfamily 1 group I member 3
Summary
This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs773748252 | 1:161,199,480 | A/G | — | likely benign |
| rs201243903 | 1:161,199,503 | G/A | — | likely benign |
| rs147849659 | 1:161,199,579 | G/A | — | benign |
| rs794727971 | 1:161,199,632 | C/A | — | uncertain significance |
| rs756304664 | 1:161,199,655 | C/T | — | uncertain significance |
| rs79799851 | 1:161,199,656 | G/A | — | benign |
| rs150124500 | 1:161,199,695 | T/G | — | uncertain significance |
| rs36017137 | 1:161,199,704 | C/T | — | likely benign |
| rs4073054 | 1:161,200,487 | C/A | downstream gene variant | — |
| rs2307418 | 1:161,200,586 | G/T | — | benign |
| rs1196076177 | 1:161,200,649 | T/A | — | uncertain significance |
| rs775926630 | 1:161,200,678 | A/G | — | uncertain significance |
| rs768982496 | 1:161,200,682 | C/T | — | uncertain significance |
| rs767209723 | 1:161,200,923 | C/T | — | uncertain significance |
| rs1667157530 | 1:161,200,927 | G/A | — | uncertain significance |
| rs1244913866 | 1:161,200,972 | A/T | — | uncertain significance |
| rs398122411 | 1:161,200,990 | A/G | — | uncertain significance |
| rs746849037 | 1:161,201,155 | C/T | — | uncertain significance |
| rs544805520 | 1:161,201,156 | G/A | — | uncertain significance |
| rs143067018 | 1:161,202,604 | C/T | — | uncertain significance |
| rs2307424 | 1:161,202,605 | G/A | synonymous variant | benign |
| rs2102146982 | 1:161,202,624 | T/C | — | uncertain significance |
| rs375116822 | 1:161,202,661 | C/T | — | uncertain significance |
| rs2525934774 | 1:161,202,679 | G/A | — | uncertain significance |
| rs369446796 | 1:161,202,705 | G/C | — | likely benign |
| rs751720819 | 1:161,202,714 | T/C | — | uncertain significance |
| rs150598676 | 1:161,202,719 | G/A | — | likely benign |
| rs984177708 | 1:161,202,991 | C/T | — | uncertain significance |
| rs139473535 | 1:161,202,999 | C/T | — | likely benign |
| rs746456274 | 1:161,203,005 | T/G | — | uncertain significance |
| rs146059027 | 1:161,203,016 | G/A | — | likely benign |
| rs545723392 | 1:161,203,023 | C/T | — | likely benign |
| rs34161743 | 1:161,203,078 | G/A | — | benign |
| rs35205211 | 1:161,203,109 | G/C | — | likely benign |
| rs2502815 | 1:161,203,227 | G/A | downstream gene variant | — |
| rs3003596 | 1:161,204,217 | A/T | — | — |
| rs117631668 | 1:161,204,450 | C/G | downstream gene variant | — |
| rs2501873 | 1:161,204,538 | C/T | downstream gene variant | — |
| rs548963536 | 1:161,205,647 | C/T | — | uncertain significance |
| rs752198862 | 1:161,205,649 | T/C | — | uncertain significance |
| rs148277311 | 1:161,205,693 | C/T | — | likely benign |
| rs201089859 | 1:161,205,730 | A/G | — | uncertain significance |
| rs544741783 | 1:161,205,731 | G/C | — | likely benign |
| rs747349033 | 1:161,205,747 | A/G | — | likely benign |
| rs2526037334 | 1:161,206,340 | C/A | — | uncertain significance |
| rs188975149 | 1:161,207,840 | T/C | — | likely benign |
| rs181499203 | 1:161,207,842 | A/G | — | likely benign |
| rs35796551 | 1:161,208,047 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.