ARNT2 aryl hydrocarbon receptor nuclear translocator 2
Gene ID: 9915, updated on 27-Nov-2024Gene type: protein coding
Also known as: WEDAS; bHLHe1
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- Go to complete Gene record for ARNT2
- Go to Variation Viewer for ARNT2 variants
Summary
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. GeneReviews: Not available | |
| Webb-Dattani syndrome | See labs |
Genomic context
- Location:
- 15q25.1
- Sequence:
- Chromosome: 15; NC_000015.10 (80404382..80597933)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ARNT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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