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Aliases for ARNT Gene

Aliases for ARNT Gene

  • Aryl Hydrocarbon Receptor Nuclear Translocator 2 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
  • 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 and Renal Cell Carcinoma. Among its related pathways are Cytochrome P450 - arranged by substrate type and Diuretics Pathway, Pharmacodynamics. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

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

Genomics for ARNT Gene

Regulatory Elements for ARNT Gene

Enhancers for ARNT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G150609 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +264.0 264026 7.5 PKNOX1 FOXA2 ARID4B SIN3A YY1 SLC30A9 ZNF766 ZNF143 FOS KLF13 HORMAD1 MCL1 CTSS ARNT GOLPH3L VPS72 CDC42SE1 LYSMD1 GABPB2 VPS45
GH01G150618 2 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +254.1 254050 7.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A FEZF1 ZNF766 ZNF207 HORMAD1 MCL1 GOLPH3L ARNT CTSS C1orf54 PRPF3 PLEKHO1 CDC42SE1 MINDY1
GH01G150760 0.9 Ensembl dbSUPER 23.7 +115.0 114968 3.2 CTCF HDAC1 SMARCE1 ZNF146 ESRRA YBX1 RAD21 ARID1B FOSL1 IKZF1 HORMAD1 ARNT RPS27AP6 UBE2D3P3 CTSK RNU6-1309P RNU6-1042P GOLPH3L PRUNE1 RNU6-884P
GH01G150667 0.9 ENCODE 23.5 +208.8 208834 1.7 FOXA2 ARID4B FEZF1 RAD21 RARA SLC30A9 EGR1 MIXL1 THAP11 ZNF202 HORMAD1 ARNT RNU6-1042P GOLPH3L ENSA UBE2D3P3 CTSK ADAMTSL4-AS1 LOC100289061 ADAMTSL4
GH01G150557 1.7 Ensembl ENCODE dbSUPER 12 +307.5 307464 23.1 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 HORMAD1 GOLPH3L SF3B4 SETDB1 CTSK VPS45 PRPF3 ENSA ARNT CTSS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARNT on UCSC Golden Path with GeneCards custom track

Promoters for ARNT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013556 668 2601 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for ARNT Gene

Chromosome:
1
Start:
150,809,705 bp from pter
End:
150,876,768 bp from pter
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

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

Function for ARNT Gene

Molecular function for ARNT Gene

GENATLAS Biochemistry:
aryl hydrocarbon receptor nuclear translocator,dioxin receptor translocator,constituvely expressed for activation of genes involved in metabolism,angiogenesis and apoptosis
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.

Gene Ontology (GO) - Molecular Function for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 1317062
GO:0003705 contributes_to transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA 7539918
GO:0003713 transcription coactivator activity TAS,IEA --
GO:0004874 aryl hydrocarbon receptor activity IEA --
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

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

Gene Ontology (GO) - Cellular Components for ARNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 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:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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)
genes like me logo Genes that share expression patterns with ARNT: view

Primer Products

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 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia ARNT 34 35
  • 93.62 (n)
dog
(Canis familiaris)
Mammalia ARNT 34 35
  • 93.32 (n)
mouse
(Mus musculus)
Mammalia Arnt 34 16 35
  • 89.69 (n)
rat
(Rattus norvegicus)
Mammalia Arnt 34
  • 89.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ARNT 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARNT 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARNT 34 35
  • 76.36 (n)
lizard
(Anolis carolinensis)
Reptilia ARNT 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arnt 34
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii arnt 35
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tgo 36 35
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea aha-1 36 35
  • 47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2012 35
  • 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)

Paralogs for ARNT Gene

Paralogs for ARNT Gene

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 Sequence Context AA Info Type
rs1000042944 -- 150,828,800(+) TATAC(G/T)GGTAT intron-variant
rs1000145063 -- 150,874,814(+) AAAGC(C/T)GTTTC intron-variant
rs1000175450 -- 150,862,157(+) TACTC(C/T)GTACT intron-variant
rs1000182714 -- 150,811,126(+) TTTAG(G/T)TAATG utr-variant-3-prime
rs1000225673 -- 150,840,214(+) TCAGC(A/C)TGGGT intron-variant

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)

Relevant External Links for ARNT Gene

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

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

Disorders for ARNT Gene

MalaCards: The human disease database

(2) MalaCards diseases for ARNT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypoxia
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ARNT in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARNT

Genetic Association Database (GAD)
ARNT
Human Genome Epidemiology (HuGE) Navigator
ARNT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARNT
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 S.K. … Elbein S.C. (BMC Med. Genet. 2008) 3 22 46 64
  2. The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage. (PMID: 16364012) Sullivan A.E. … Silver R.M. (Am. J. Reprod. Immunol. 2006) 3 22 46 64
  3. Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity. (PMID: 16084889) Tsuchiya M. … Ikenoue T. (Fertil. Steril. 2005) 3 22 46 64
  4. Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. (PMID: 11393538) Watanabe T. … Inazawa J. (J. Hum. Genet. 2001) 3 22 46 64
  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 S.G. … Hankinson O. (J. Biol. Chem. 1996) 3 4 22 64

Products for ARNT Gene

  • Addgene plasmids for ARNT

Sources for ARNT Gene

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