ARNT
aryl hydrocarbon receptor nuclear translocator
Summary
This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745777019 | 1:150,785,725 | G/C | — | uncertain significance |
| rs192996355 | 1:150,786,567 | C/T | — | uncertain significance |
| rs376925279 | 1:150,786,573 | G/A | — | uncertain significance |
| rs749440287 | 1:150,786,603 | G/A | — | uncertain significance |
| rs140420727 | 1:150,788,748 | C/G | — | uncertain significance |
| rs776420303 | 1:150,788,871 | A/G | — | uncertain significance |
| rs768182420 | 1:150,789,282 | C/T | — | uncertain significance |
| rs1655982592 | 1:150,789,288 | G/T | — | uncertain significance |
| rs772356330 | 1:150,789,573 | G/A | — | uncertain significance |
| rs1805133 | 1:150,789,884 | C/T | — | likely benign |
| rs3894771 | 1:150,789,961 | A/G | — | — |
| rs751427271 | 1:150,790,459 | C/T | — | uncertain significance |
| rs997552731 | 1:150,801,586 | C/G | — | uncertain significance |
| rs750094376 | 1:150,801,589 | T/C | — | uncertain significance |
| rs1571264235 | 1:150,802,422 | G/T | — | likely benign |
| rs1285748144 | 1:150,802,438 | T/C | — | uncertain significance |
| rs1244283293 | 1:150,804,867 | C/T | — | likely benign |
| rs1339179905 | 1:150,807,032 | G/A | — | uncertain significance |
| rs2228099 | 1:150,808,889 | C/G | synonymous variant | — |
| rs3768016 | 1:150,809,919 | T/C | intron variant | — |
| rs779105288 | 1:150,814,942 | G/A | — | uncertain significance |
| rs116079458 | 1:150,816,206 | C/T | intron variant | — |
| rs2134688 | 1:150,816,886 | G/A | intron variant | — |
| rs188499820 | 1:150,818,339 | T/C | intron variant | — |
| rs61817641 | 1:150,823,241 | C/T | intron variant | — |
| rs143887202 | 1:150,823,454 | C/G | — | — |
| rs587649905 | 1:150,827,201 | C/T | — | — |
| rs1386729618 | 1:150,830,835 | G/A | — | uncertain significance |
| rs764027746 | 1:150,830,907 | G/T | — | uncertain significance |
| rs3820541 | 1:150,848,681 | G/C | regulatory region variant | — |
| rs7517566 | 1:150,850,035 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.