NR1I2
nuclear receptor subfamily 1 group I member 2
Summary
This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1523130 | 3:119,499,507 | T/A | — | — |
| rs3814055 | 3:119,500,035 | C/T | upstream gene variant | — |
| rs1523127 | 3:119,501,039 | C/A | upstream gene variant | — |
| rs12488820 | 3:119,502,069 | T/C | regulatory region variant | — |
| rs2472671 | 3:119,503,045 | C/G | — | — |
| rs2472677 | 3:119,518,417 | C/G | — | — |
| rs2461823 | 3:119,520,125 | T/C | intron variant | — |
| rs13059232 | 3:119,521,055 | T/C | intron variant | — |
| rs7643645 | 3:119,525,497 | A/G | intron variant | — |
| rs2545669780 | 3:119,526,143 | C/T | — | likely benign |
| rs59371185 | 3:119,526,149 | G/A | missense variant | — |
| rs1183550879 | 3:119,526,175 | G/T | — | uncertain significance |
| rs12721613 | 3:119,526,176 | C/T | missense variant | — |
| rs756493951 | 3:119,526,188 | G/A | — | uncertain significance |
| rs12721607 | 3:119,526,203 | G/A | missense variant | — |
| rs776219511 | 3:119,526,221 | C/T | — | uncertain significance |
| rs199999304 | 3:119,526,275 | G/A | — | uncertain significance |
| rs1464603 | 3:119,526,349 | G/C | — | — |
| rs1464602 | 3:119,526,372 | G/A | intron variant | — |
| rs2545672915 | 3:119,528,958 | C/A | — | uncertain significance |
| rs72551371 | 3:119,529,002 | C/T | missense variant | — |
| rs917173740 | 3:119,529,008 | C/T | — | uncertain significance |
| rs150651210 | 3:119,529,025 | C/T | — | benign |
| rs755621657 | 3:119,530,400 | G/A | — | uncertain significance |
| rs542581336 | 3:119,530,406 | G/A | — | uncertain significance |
| rs12721608 | 3:119,530,419 | G/T | missense variant | — |
| rs147693239 | 3:119,530,423 | C/T | — | benign |
| rs555441030 | 3:119,530,433 | C/T | — | uncertain significance |
| rs753350624 | 3:119,530,455 | G/C | — | uncertain significance |
| rs72551372 | 3:119,530,472 | G/A | missense variant | — |
| rs2545674947 | 3:119,530,491 | A/G | — | uncertain significance |
| rs72551373 | 3:119,530,497 | G/A | missense variant | — |
| rs1351775615 | 3:119,530,538 | T/G | — | uncertain significance |
| rs72551374 | 3:119,530,542 | A/G | missense variant | — |
| rs12721611 | 3:119,530,546 | T/C | — | benign |
| rs12721600 | 3:119,531,556 | C/T | — | likely benign |
| rs373870063 | 3:119,531,560 | G/A | — | uncertain significance |
| rs199710321 | 3:119,531,621 | G/A | — | uncertain significance |
| rs2545676434 | 3:119,531,641 | A/G | — | uncertain significance |
| rs377500972 | 3:119,531,660 | G/A | — | uncertain significance |
| rs141624971 | 3:119,531,694 | C/A | — | likely benign |
| rs61755051 | 3:119,531,709 | T/C | — | benign |
| rs761179278 | 3:119,531,800 | T/C | — | likely benign |
| rs146128653 | 3:119,531,801 | A/G | — | uncertain significance |
| rs114545122 | 3:119,531,805 | C/T | — | likely benign |
| rs6784598 | 3:119,533,256 | G/T | — | — |
| rs6785049 | 3:119,533,733 | G/T | — | — |
| rs765752068 | 3:119,533,839 | G/A | — | uncertain significance |
| rs144833620 | 3:119,533,842 | G/A | — | uncertain significance |
| rs1456499728 | 3:119,533,858 | T/A | — | uncertain significance |
| rs12721612 | 3:119,533,865 | G/A | — | benign |
| rs2276707 | 3:119,534,153 | C/G | intron variant | — |
| rs376659976 | 3:119,534,251 | A/G | — | uncertain significance |
| rs200382925 | 3:119,534,576 | G/A | — | uncertain significance |
| rs147825108 | 3:119,534,582 | G/T | — | uncertain significance |
| rs751429694 | 3:119,534,596 | C/T | — | uncertain significance |
| rs35761343 | 3:119,534,626 | G/A | missense variant | — |
| rs72551375 | 3:119,534,659 | C/T | missense variant | — |
| rs780700712 | 3:119,534,660 | G/A | — | uncertain significance |
| rs72551376 | 3:119,535,961 | A/G | missense variant | — |
| rs2545681665 | 3:119,536,001 | A/T | — | uncertain significance |
| rs568300037 | 3:119,536,033 | G/C | — | uncertain significance |
| rs3732359 | 3:119,536,429 | G/A | downstream gene variant | — |
| rs3732360 | 3:119,536,581 | C/T | downstream gene variant | — |
| rs1054190 | 3:119,536,718 | C/T | downstream gene variant | — |
| rs1054191 | 3:119,536,897 | G/C | — | — |
| rs3814057 | 3:119,537,254 | A/C | downstream gene variant | — |
| rs3814058 | 3:119,537,291 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.