ARNT2 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | ARNT2 |
| Official Name | aryl hydrocarbon receptor nuclear translocator 2 [Source:HGNC Symbol;Acc:HGNC:16876] |
| Ensembl ID | ENSG00000172379 |
| Bio databases IDs | |
| Aliases | aryl hydrocarbon receptor nuclear translocator 2 |
| Synonyms | aryl hydrocarbon receptor nuclear translocator 2, bHLHe1, Hif-2b, KIAA0307, mKIAA0307, WEDAS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- transcription regulator
- nucleic acid binding
- PAS domain S-box
- PAS
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- sequence-specific DNA binding
- PAS fold
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- binding protein
- aryl hydrocarbon receptor binding
- PAS domain
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dementia
- Webb-Dattani syndrome
- Alzheimer disease
- idiopathic scoliosis
- chronic obstructive pulmonary disease
- diabetes mellitus
- insomnia
role in cell
- proliferation
- apoptosis
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hypoxia
- central nervous system development
- positive regulation of transcription, DNA-dependent
- in utero embryonic development
- regulation of transcription, DNA-dependent
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytoplasm
- aryl hydrocarbon receptor complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein heterodimerization activity
- aryl hydrocarbon receptor binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity