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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
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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)

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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)