ARNT2

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]

Full Name

Aryl Hydrocarbon Receptor Nuclear Translocator 2

Function

Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475).
Specifically recognizes the xenobiotic response element (XRE).

Biological Process

Brain development Source: UniProtKB
Central nervous system development Source: UniProtKB
In utero embryonic development Source: UniProtKB
Negative regulation of apoptotic process Source: Ensembl
Positive regulation of cell population proliferation Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of transcription, DNA-templated Source: MGI
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to estradiol Source: Ensembl
Response to hypoxia Source: UniProtKB
Xenobiotic metabolic process Source: Reactome

Cellular Location

Nucleus

Involvement in disease

Webb-Dattani syndrome (WEDAS): A disorder characterized by postnatal microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.