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

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family.
Title: Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family.
The meta-analysis of both populations showed that carriers of the ARNT2 rs1374213G, CX3CR1 rs7631529A, and CX3CR1 rs9823718G alleles (where the RefSeq identifier appears as a subscript) had a significantly increased risk of developing invasive aspergillosis according to a log-additive model.
Title: Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.
Immunohistochemistry confirmed ARNT2 expression in cell sub-populations within proliferative zones of patients' glioblastoma. Decreased ARNT2 expression was consistently observed in non-tumorigenic glioblastoma cells, compared to tumorigenic cells. Moreover, ARNT2 expression correlated with a tumorigenic molecular signature at both the tissue level within the tumor core and at the single cell level in the patients' tumors
Title: Changes in chromatin state reveal ARNT2 at a node of a tumorigenic transcription factor signature driving glioblastoma cell aggressiveness.
Low expression of ARNT2 is associated with gastric cancer.
Title: Overexpression of ARNT2 is associated with decreased cell proliferation and better prognosis in gastric cancer.
The single nucleotide polymorphisms rs4778599 in the gene encoding aryl hydrocarbon receptor nuclear translocator 2 (ARNT2), showed an association that survived correction for multiple testing with emotion recognition of audio-visual stimuli in women
Title: Emotion recognition associated with polymorphism in oxytocinergic pathway gene ARNT2.
Attenuated ARNT2 expression in HCC827 cells greatly promoted tumor growth.
Title: ARNT2 is downregulated and serves as a potential tumor suppressor gene in non-small cell lung cancer.
nominal associations were found between autism spectrum disorder scores and single-nucleotide polymorphisms in OXT, ARNT2 and CD38
Title: Associations between oxytocin-related genes and autistic-like traits.
Data suggest that selected human SIM1 (single-minded homolog 1) variants exhibit poor dimerization with ARNT2 and anomalous intracellular localization; these data were used to predict 'hot-spot' in SIM1/SIM2 (residues 290-326) critical for function.
Title: Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
These results provide insight into the mechanisms of NPAS4/ARNT dimerisation and transcriptional activation.
Title: Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.
mutation of ARNT2 results in absence of detectable levels of ARNT2 transcript and protein from patient fibroblasts compared with controls, consistent with nonsense-mediated decay of the mutant transcript and loss of ARNT2 function.
Title: ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-79562 (e-PCR)
- UniSTS:103683

D15S823 (e-PCR)
- UniSTS:53519

STS-W45696 (e-PCR)
- UniSTS:35346

1808 (e-PCR)
- UniSTS:23832

SHGC-105794 (e-PCR)
- UniSTS:169501

SHGC-147162 (e-PCR)
- UniSTS:175648

PMC343817P2 (e-PCR)
- UniSTS:273198

D15S1510 (e-PCR)
- UniSTS:15429

RH92809 (e-PCR)
- UniSTS:87378

L18426 (e-PCR)
- UniSTS:34648

RH44818 (e-PCR)
- UniSTS:43610

NoName (e-PCR)
- UniSTS:63083

SHGC-146049 (e-PCR)
- UniSTS:174962

SHGC-149043 (e-PCR)
- UniSTS:176760

ARNT2_2060 (e-PCR)
- UniSTS:280449

RH66360 (e-PCR)
- UniSTS:77204

D15S614E (e-PCR)
- UniSTS:149960

SHGC-83380 (e-PCR)
- UniSTS:101069

G59891 (e-PCR)
- UniSTS:137173

RH48627 (e-PCR)
- UniSTS:56286

RH136634 (e-PCR)
- UniSTS:209642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables aryl hydrocarbon receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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

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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)

NM_014862.4 → NP_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:62 → 124

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:137 → 243

PAS; PAS fold

pfam14598
Location:336 → 436

PAS_11; PAS domain