ARNT2 Chromosome 15
Aryl hydrocarbon receptor nuclear translocator 2
Upload your DNA to see your personal genotypes for variants in ARNT2.
What This Gene Does
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]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|MicroRNA protein coding host genes|PAS domain containing"
Locus Type
gene with protein product
Location
15q25.1
Ensembl
ENSG00000172379
Associated Conditions (4)
Pulmonary disease
chronic obstructive
susceptibility to
Webb-Dattani syndrome
Key Variants
RS3901896
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS8041826
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS537962071
Conflicting classifications of pathogenicity
Health Risk
RS1595993043
Likely pathogenic
Webb-Dattani syndrome, Webb-Dattani syndrome
Health Risk
RS1596021185
Pathogenic
Webb-Dattani syndrome, Webb-Dattani syndrome
Health Risk
RS762786652
Pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS3901896 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS8041826 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS537962071 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1595993043 | Health Risk | Likely pathogenic | Webb-Dattani syndrome, Webb-Dattani syndrome |
| RS1596021185 | Health Risk | Pathogenic | Webb-Dattani syndrome, Webb-Dattani syndrome |
| RS762786652 | Health Risk | Pathogenic | — |