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Aliases for ARNT Gene

Aliases for ARNT Gene

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

External Ids for ARNT Gene

Previous GeneCards Identifiers for ARNT Gene

  • GC01M148624
  • GC01M146529
  • GC01M147557
  • GC01M147998
  • GC01M147595
  • GC01M149048
  • 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. Among its related pathways are Cytochrome P450 - arranged by substrate type and Translational Control. 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 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 with HIF1A or EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia.

Gene Wiki entry for ARNT Gene

Additional gene information for ARNT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARNT Gene

Genomics for ARNT Gene

GeneHancer (GH) Regulatory Elements for ARNT Gene

Promoters and enhancers for ARNT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J150874 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 673.9 +0.9 868 3.7 CLOCK FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 ARNT MRPL9 HORMAD1 RPRD2 PI4KB PIP5K1A POGZ LYSMD1 SETDB1 GOLPH3L
GH01J149883 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 76.9 +990.1 990065 5.9 CLOCK MLX ZFP64 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 HIST2H2AB HIST2H2AC HIST2H2BE GC01M149896 BOLA1 HIST2H2BF PRPF3 SF3B4 UBE2D3P3 ARNT
GH01J151068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 78.1 -193.7 -193718 3.3 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GABPB2 CDC42SE1 SETDB1 PRPF3 PI4KB PIP5K1A MRPL9 UBE2D3P3 ARNT ZNF687
GH01J151054 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 65.4 -182.2 -182236 9.9 CLOCK YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MLLT11 CDC42SE1 SETDB1 PRPF3 ARNT PIP5K1A PI4KB ZNF687 GABPB2 UBE2D3P3
GH01J150626 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 60.5 +247.4 247397 4.9 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ENSA GC01P150630 SETDB1 PIP5K1A PRPF3 ARNT UBE2D3P3 PI4KB SF3B4 HORMAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARNT on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ARNT Gene

Genomic Locations for ARNT Gene
chr1:150,809,705-150,876,768
(GRCh38/hg38)
Size:
67,064 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:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with AHR, AHRR, HIF1A and EPAS1/HIF2A as well as with other bHLH proteins. Interacts with TACC3 (By similarity). Interacts with NOCA7. Heterodimer with HIF1A.
    SequenceCaution:
    • Sequence=BAD93114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD38953.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 with HIF1A or EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia.
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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0000989 transcription factor activity, transcription factor binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 1317062
GO:0003705 contributes_to transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA 7539918
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

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

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
mitochondrion 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 8089148
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0016604 nuclear body IDA --
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

SIGNOR curated interactions for ARNT Gene

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

Unigene Clusters for ARNT Gene

Aryl hydrocarbon receptor nuclear translocator:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ARNT

Expression for ARNT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ARNT Gene:

ARNT

SOURCE GeneReport for Unigene cluster for ARNT Gene:

Hs.632446

Evidence on tissue expression from TISSUES for ARNT Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Muscle(2.7)
  • Heart(2.5)
  • Lung(2.4)
  • Kidney(2.3)
  • Intestine(2)
  • Skin(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 34 33
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARNT 34 33
  • 93.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARNT 34 33
  • 93.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arnt 16 34 33
  • 89.69 (n)
rat
(Rattus norvegicus)
Mammalia Arnt 33
  • 89.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ARNT 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARNT 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARNT 34 33
  • 76.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARNT 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arnt 33
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii arnt 34
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tgo 34 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aha-1 34 35
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2012 34
  • 50 (a)
OneToMany
Species where no ortholog for ARNT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for ARNT Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000042944 -- 150,828,800(-) T/G intron_variant
rs1000145063 -- 150,874,814(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000175450 -- 150,862,157(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000182714 -- 150,811,126(-) G/T 3_prime_UTR_variant
rs1000225673 -- 150,840,214(-) C/A intron_variant

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

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

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

(1) MalaCards diseases for ARNT Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- 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
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 22 44 58
  2. 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 22 44 58
  3. 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 22 44 58
  4. Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. (PMID: 11393538) Watanabe T … Inazawa J (Journal of human genetics 2001) 3 22 44 58
  5. Functional characterization of DNA-binding domains of the subunits of the heterodimeric aryl hydrocarbon receptor complex imputing novel and canonical basic helix-loop-helix protein-DNA interactions. (PMID: 8621524) Bacsi SG … Hankinson O (The Journal of biological chemistry 1996) 3 4 22 58

Products for ARNT Gene

  • Addgene plasmids for ARNT