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    ARNT2 aryl hydrocarbon receptor nuclear translocator 2 [ Homo sapiens (human) ]

    Gene ID: 9915, updated on 19-Sep-2024

    Summary

    Official Symbol
    ARNT2provided by HGNC
    Official Full Name
    aryl hydrocarbon receptor nuclear translocator 2provided by HGNC
    Primary source
    HGNC:HGNC:16876
    See related
    Ensembl:ENSG00000172379 MIM:606036; AllianceGenome:HGNC:16876
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WEDAS; bHLHe1
    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]
    Expression
    Biased expression in brain (RPKM 65.1), kidney (RPKM 9.7) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ARNT2 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (80404382..80597933)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78267966..78461516)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (80696724..80890274)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:80610139-80610639 Neighboring gene ARNT2 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80696155-80696655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80727509-80728008 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:80728334-80729533 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80772226-80773145 Neighboring gene uncharacterized LOC124903537 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:80773146-80774064 Neighboring gene uncharacterized LOC101929586 Neighboring gene uncharacterized LOC124903538 Neighboring gene microRNA 5572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:80907671-80908172 Neighboring gene NANOG hESC enhancer GRCh37_chr15:80946482-80946983 Neighboring gene RNA, U6 small nuclear 380, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6736 Neighboring gene abhydrolase domain containing 17C, depalmitoylase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:81041397-81042596

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Webb-Dattani syndrome
    MedGen: C4014708 OMIM: 615926 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0307

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of aryl hydrocarbon receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    aryl hydrocarbon receptor nuclear translocator 2
    Names
    ARNT protein 2
    class E basic helix-loop-helix protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014862.4NP_055677.3  aryl hydrocarbon receptor nuclear translocator 2

      See identical proteins and their annotated locations for NP_055677.3

      Status: REVIEWED

      Source sequence(s)
      AC108451, BC051335, BX538026, BX647212
      Consensus CDS
      CCDS32307.1
      UniProtKB/Swiss-Prot
      B4DIS7, O15024, Q8IYC2, Q9HBZ2
      UniProtKB/TrEMBL
      X5D7T2, X5DQN9
      Related
      ENSP00000307479.4, ENST00000303329.9
      Conserved Domains (3) summary
      cd18947
      Location:62124
      bHLH-PAS_ARNT; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator (ARNT) and similar proteins
      pfam00989
      Location:137243
      PAS; PAS fold
      pfam14598
      Location:336436
      PAS_11; PAS domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      80404382..80597933
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      78267966..78461516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)