Version: 8.0.0
Date: Tue Jan 28 2025
ARNT
Homo sapiensHGNC:700
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ARNT

Species
Homo sapiens
Symbol
ARNT
Name
aryl hydrocarbon receptor nuclear translocator
Synonyms
  • ARNT1
  • bHLHe2
Biotype
protein coding gene
Automated Description
Enables several functions, including aryl hydrocarbon receptor binding activity; cis-regulatory region sequence-specific DNA binding activity; and protein dimerization activity. Contributes to nuclear receptor activity. Involved in several processes, including cellular response to oxidative stress; positive regulation of biosynthetic process; and response to hypoxia. Acts upstream of or within positive regulation of DNA-templated transcription. Located in nuclear body. Part of RNA polymerase II transcription regulator complex. Is active in nuclear aryl hydrocarbon receptor complex. Implicated in renal cell carcinoma. Biomarker of type 2 diabetes mellitus.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23042
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          ARNT molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            ARNT role
            ARNT genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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