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 transcript... See more...

Aliases for ARNT Gene

Aliases for ARNT Gene

  • Aryl Hydrocarbon Receptor Nuclear Translocator 2 3 4 5
  • BHLHe2 2 3 4
  • Class E Basic Helix-Loop-Helix Protein 2 3 4
  • Dioxin Receptor, Nuclear Translocator 3 4
  • HIF-1-Beta 3 4
  • HIF-1beta 2 3
  • HIF1-Beta 3 4
  • Hypoxia-Inducible Factor 1, Beta Subunit 3
  • Hypoxia-Inducible Factor 1-Beta 4
  • ARNT Protein 4
  • HIF1BETA 3
  • BHLHE2 4
  • HIF1B 3
  • TANGO 3
  • ARNT 5

External Ids for ARNT Gene

Previous GeneCards Identifiers for ARNT Gene

  • GC01M148624
  • GC01M146529
  • GC01M147557
  • GC01M147998
  • GC01M147595
  • GC01M149048
  • GC01M150782
  • GC01M122159

Summaries for ARNT Gene

Entrez Gene Summary for ARNT Gene

  • 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]

GeneCards Summary for ARNT Gene

ARNT (Aryl Hydrocarbon Receptor Nuclear Translocator) is a Protein Coding gene. Diseases associated with ARNT include Hypoxia and Familial Isolated Hypoparathyroidism. Among its related pathways are HIF1Alpha Pathway and Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot Summary for ARNT Gene

  • Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409).

Gene Wiki entry for ARNT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARNT Gene

Genomics for ARNT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARNT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARNT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARNT

Top Transcription factor binding sites by QIAGEN in the ARNT gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha

Genomic Locations for ARNT Gene

Genomic Locations for ARNT Gene
chr1:150,809,713-150,876,737
(GRCh38/hg38)
Size:
67,025 bases
Orientation:
Minus strand
chr1:150,782,181-150,849,244
(GRCh37/hg19)
Size:
67,064 bases
Orientation:
Minus strand

Genomic View for ARNT Gene

Genes around ARNT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARNT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARNT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARNT Gene

Proteins for ARNT Gene

  • Protein details for ARNT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27540-ARNT_HUMAN
    Recommended name:
    Aryl hydrocarbon receptor nuclear translocator
    Protein Accession:
    P27540
    Secondary Accessions:
    • B2R9H1
    • C4AMA1
    • F8WAP6
    • Q59ED4
    • Q5QP39
    • Q8NDC7

    Protein attributes for ARNT Gene

    Size:
    789 amino acids
    Molecular mass:
    86636 Da
    Quaternary structure:
    • Monomer. Homodimer only upon binding to a DNA (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Interacts with TACC3 (By similarity). Interacts with HIF1A, EPAS1, NPAS1 and NPAS3; forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:20699359, PubMed:16181639) (By similarity). Forms a heterodimer with AHRR, as well as with other bHLH proteins (Probable). Interacts with NOCA7 (PubMed:10395741). Interacts with TACC3 (By similarity). Interacts with AHR; the heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409). Interacts with SIM1 and NPAS4 (By similarity).
    SequenceCaution:
    • Sequence=BAD93114.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38953.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARNT Gene

    Alternative splice isoforms for ARNT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARNT Gene

Post-translational modifications for ARNT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ARNT Gene

Domains & Families for ARNT Gene

Gene Families for ARNT Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ARNT Gene

InterPro:
Blocks:
  • PAS domain
  • Nuclear translocator signature
  • Basic helix-loop-helix dimerization domain bHLH
  • PAC motif
  • PAS fold-3
ProtoNet:

Suggested Antigen Peptide Sequences for ARNT Gene

GenScript: Design optimal peptide antigens:
  • Hypoxia-inducible factor 1-beta (ARNT_HUMAN)
  • Aryl hydrocarbon receptor nuclear translocator (F8T0U3_HUMAN)
  • Aryl hydrocarbon receptor nuclear translocator (F8T0U4_HUMAN)
  • Aryl hydrocarbon receptor nuclear translocator (O43392_HUMAN)
  • Aryl hydrocarbon receptor nuclear translocator (Q9UH46_HUMAN)
genes like me logo Genes that share domains with ARNT: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARNT Gene

Function for ARNT Gene

Molecular function for ARNT Gene

UniProtKB/Swiss-Prot Function:
Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409).
GENATLAS Biochemistry:
aryl hydrocarbon receptor nuclear translocator,dioxin receptor translocator,constituvely expressed for activation of genes involved in metabolism,angiogenesis and apoptosis

Phenotypes From GWAS Catalog for ARNT Gene

Gene Ontology (GO) - Molecular Function for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISM 19274049
GO:0000987 proximal promoter sequence-specific DNA binding IDA 23275542
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 1317062
genes like me logo Genes that share ontologies with ARNT: view
genes like me logo Genes that share phenotypes with ARNT: view

Animal Models for ARNT Gene

MGI Knock Outs for ARNT:

Animal Model Products

CRISPR Products

Transcription Factor Targets for ARNT Gene

Selected GeneGlobe predicted Target genes for ARNT
Targeted motifs for ARNT Gene
HOMER Transcription Factor Regulatory Elements motif ARNT
  • Consensus sequence: TBGCACGCAA Submotif: canonical Cell Type: MCF7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARNT

Clone Products

  • Addgene plasmids for ARNT

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for ARNT Gene

Localization for ARNT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARNT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARNT gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus TAS,IDA --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ARNT: view

Pathways & Interactions for ARNT Gene

genes like me logo Genes that share pathways with ARNT: view

Pathways by source for ARNT Gene

1 PharmGKB pathway for ARNT Gene
3 GeneGo (Thomson Reuters) pathways for ARNT Gene
  • Development Angiopoietin - Tie2 signaling
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
  • Transcription Receptor-mediated HIF regulation
2 R&D Systems pathways for ARNT Gene
2 Qiagen pathways for ARNT Gene
  • AHR Pathway
  • HIF1Alpha Pathway
2 Cell Signaling Technology pathways for ARNT Gene
1 GeneTex pathway for ARNT Gene

SIGNOR curated interactions for ARNT Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 8756616
GO:0001892 embryonic placenta development IEA --
GO:0001938 positive regulation of endothelial cell proliferation IC 8756616
GO:0006351 transcription, DNA-templated TAS 1317062
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ARNT: view

Drugs & Compounds for ARNT Gene

(15) Drugs for ARNT Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for ARNT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARNT: view

Transcripts for ARNT Gene

mRNA/cDNA for ARNT Gene

9 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARNT

Clone Products

  • Addgene plasmids for ARNT

Alternative Splicing Database (ASD) splice patterns (SP) for ARNT Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - - - - - - -
SP5: -
SP6: - - -
SP7: -
SP8:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c · 23d
SP1:
SP2:
SP3:
SP4: - - - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ARNT Gene

GeneLoc Exon Structure for
ARNT

Expression for ARNT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARNT Gene

Protein differential expression in normal tissues from HIPED for ARNT Gene

This gene is overexpressed in Placenta (19.7), Heart (13.1), Ovary (9.6), and Blymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARNT Gene



Protein tissue co-expression partners for ARNT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARNT

SOURCE GeneReport for Unigene cluster for ARNT Gene:

Hs.632446

Evidence on tissue expression from TISSUES for ARNT Gene

  • Nervous system(4.7)
  • Liver(4.7)
  • Muscle(3.3)
  • Heart(3.2)
  • Kidney(3.1)
  • Intestine(3)
  • Lung(2.9)
  • Bone marrow(2.9)
  • Blood(2.8)
  • Skin(2.8)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Pancreas(2.5)
  • Adrenal gland(2.4)
  • Stomach(2.3)
  • Thyroid gland(2.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with ARNT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARNT Gene

Orthologs for ARNT Gene

This gene was present in the common ancestor of animals.

Orthologs for ARNT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARNT 30 31
  • 99.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARNT 30 31
  • 93.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARNT 30 31
  • 93.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arnt 30 17 31
  • 89.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arnt 30
  • 89.04 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARNT 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARNT 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARNT 30 31
  • 76.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARNT 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arnt 30
  • 71.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii arnt 31
  • 57 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta tgo 31 32
  • 48 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea aha-1 31 32
  • 48 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2012 31
  • 50 (a)
OneToMany
Species where no ortholog for ARNT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ARNT Gene

ENSEMBL:
Gene Tree for ARNT (if available)
TreeFam:
Gene Tree for ARNT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARNT: view image

Paralogs for ARNT Gene

Paralogs for ARNT Gene

(6) SIMAP similar genes for ARNT Gene using alignment to 9 proteins:

  • ARNT_HUMAN
  • A6NGV6_HUMAN
  • D6RDB3_HUMAN
  • F8T0U3_HUMAN
  • F8T0U4_HUMAN
  • F8WAP6_HUMAN
  • I6L9E7_HUMAN
  • O43392_HUMAN
  • Q9UH46_HUMAN
genes like me logo Genes that share paralogs with ARNT: view

Variants for ARNT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARNT Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
743372 Likely Benign: not provided 150,829,946(-) G/T SYNONYMOUS_VARIANT
782937 Benign: not provided 150,817,408(-) C/T MISSENSE_VARIANT
rs10305741 - p.Asp517Glu
rs1805133 - p.Asp511Asn
rs2229175 - p.Arg430Gln

Additional dbSNP identifiers (rs#s) for ARNT Gene

Structural Variations from Database of Genomic Variants (DGV) for ARNT Gene

Variant ID Type Subtype PubMed ID
esv3353935 CNV insertion 20981092
esv5926 CNV gain 19470904
nsv1008496 CNV gain 25217958
nsv1010875 CNV gain 25217958
nsv1122405 CNV deletion 24896259
nsv2788 CNV deletion 18451855
nsv2810 CNV deletion 18451855
nsv437169 CNV loss 16327808

Variation tolerance for ARNT Gene

Residual Variation Intolerance Score: 6.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARNT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARNT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARNT Gene

Disorders for ARNT Gene

MalaCards: The human disease database

(8) MalaCards diseases for ARNT Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ARNT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARNT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ARNT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARNT Gene

Publications for ARNT Gene

  1. Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis. (PMID: 18366646) Das SK … Elbein SC (BMC medical genetics 2008) 3 23 41
  2. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PMID: 17559847) Merisalu A … Salumets A (Fertility and sterility 2007) 3 23 41
  3. The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage. (PMID: 16364012) Sullivan AE … Silver RM (American journal of reproductive immunology (New York, N.Y. : 1989) 2006) 3 23 41
  4. Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity. (PMID: 16084889) Tsuchiya M … Ikenoue T (Fertility and sterility 2005) 3 23 41
  5. Structural basis of ARNT PAS-B dimerization: use of a common beta-sheet interface for hetero- and homodimerization. (PMID: 16181639) Card PB … Gardner KH (Journal of molecular biology 2005) 3 4 23

Products for ARNT Gene