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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARNT Gene

protein-coding   GIFtS: 68
GCID: GC01M150782

Aryl Hydrocarbon Receptor Nuclear Translocator

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Aryl Hydrocarbon Receptor Nuclear Translocator1 2     HIF1B2
Class E Basic Helix-Loop-Helix Protein 22 3     HIF1BETA2
Dioxin Receptor, Nuclear Translocator2 3     TANGO2
HIF-1-beta2 3     Hypoxia-Inducible Factor 1, Beta Subunit2
HIF1-beta2 3     BHLHE23
bHLHe22 3     ARNT Protein3
HIF-1beta2     Hypoxia-Inducible Factor 1-Beta3

External Ids:    HGNC: 7001   Entrez Gene: 4052   Ensembl: ENSG000001434377   OMIM: 1261105   UniProtKB: P275403   

Export aliases for ARNT gene to outside databases

Previous GC identifers: GC01M148624 GC01M146529 GC01M147557 GC01M147998 GC01M147595 GC01M149048 GC01M122159


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARNT Gene:
The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic
metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of
ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the
ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through
binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these
enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for
receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric
transcription factor, hypoxia-inducible factor 1. A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT
fusion protein, is associated with acute myeloblastic leukemia. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Oct 2010)

GeneCards Summary for ARNT Gene: 
ARNT (aryl hydrocarbon receptor nuclear translocator) is a protein-coding gene. Diseases associated with ARNT include hypoxia, and estrogen-receptor negative breast cancer, and among its related super-pathways are Cellular response to hypoxia and Metabolism of xenobiotics by cytochrome P450. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540
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 Wiki entry for ARNT (Aryl hydrocarbon receptor nuclear translocator) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARNT gene promoter:
         AP-1   ATF-2   c-Jun   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARNT promoter sequence
   Search SABiosciences Chromatin IP Primers for ARNT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARNT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

ARNT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARNT gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M150782:  view genomic region     (about GC identifiers)

Start:
150,782,181 bp from pter      End:
150,849,244 bp from pter
Size:
67,064 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540 (See protein sequence)
Recommended Name: Aryl hydrocarbon receptor nuclear translocator  
Size: 789 amino acids; 86636 Da
Subunit: 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
Subcellular location: Nucleus
Sequence caution: Sequence=CAD38953.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/16 PDB 3D structures from and Proteopedia for ARNT (see all 16):
1D7G (3D)        1X0O (3D)        2A24 (3D)        2ARN (3D)        2B02 (3D)        2HV1 (3D)    
Secondary accessions: C4AMA1 Q5QP39 Q8NDC7
Alternative splicing: 3 isoforms:  P27540-1   P27540-2   P27540-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARNT: NX_P27540

Explore proteomics data for ARNT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27540

  • ARNT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARNT Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001184254.1  NP_001659.1  NP_848514.1  

    ENSEMBL proteins: 
     ENSP00000351407   ENSP00000425899   ENSP00000346372   ENSP00000423851   ENSP00000427571  
     ENSP00000425363  
    Reactome Protein details: P27540
    Human Recombinant Protein Products for ARNT: 
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    OriGene MassSpec for ARNT 
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    Novus Biologicals ARNT Proteins
    Novus Biologicals ARNT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARNT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--

    ARNT for ontologies           About GeneDecksing



    ARNT Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ARNT
    R&D Systems Antibodies for ARNT (ARNT/HIF-1 beta)
    Cell Signaling Technology (CST) Antibodies for ARNT 
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    Novus Biologicals ARNT Antibodies
    Abcam antibodies for ARNT
    Cloud-Clone Corp. Antibodies for ARNT 
    ThermoFisher Antibody for ARNT
    LSBio Antibodies in human, mouse, rat for ARNT 

    Assay Products for ARNT: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ARNT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARNT 
    Cloud-Clone Corp. CLIAs for ARNT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    5/6 InterPro protein domains (see all 6):
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom
     IPR001067 Nuc_translocat

    Graphical View of Domain Structure for InterPro Entry P27540

    ProtoNet protein and cluster: P27540

    5 Blocks protein domains:
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001610 PAC motif
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    ARNT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARNT_HUMAN, P27540
    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 entry for ARNT:
    aryl hydrocarbon receptor nuclear translocator,dioxin receptor translocator,constituvely expressed for activation
    of genes involved in metabolism,angiogenesis and apoptosis

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000989transcription factor binding transcription factor activity ----
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10777486
    GO:0003705contributes to RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IDA7539918
    GO:0003713transcription coactivator activity IEA--
         
    ARNT for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Arnt) (see all 17):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  nervous system  normal  renal/urinary system 

    ARNT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ARNT: Arnttm1.2Gonz Arnttm1Mcs Arnttm1Oha

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARNT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARNT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARNT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARNT 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARNT:
    hsa-mir-107 (MIRT004537)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARNT
    8/76 QIAGEN miScript miRNA Assays for microRNAs that regulate ARNT (see all 76):
    hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-3916 hsa-miR-629* hsa-miR-4325 hsa-miR-298 hsa-miR-3613-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidARNT 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for ARNT
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of ARNT

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ARNT (see all 18)
    OriGene ORF clones in mouse, rat for ARNT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ARNT (NM_001197325)
    Sino Biological Human cDNA Clone for ARNT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARNT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNT
    Sirion Biotech Customized lentivirus for stable overexpression of ARNT 
                         Customized lentivirus expression plasmids for stable overexpression of ARNT 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ARNT
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNT


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARNT About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cellular response to hypoxia
    Cellular response to hypoxia0.72
    Cellular responses to stress0.72
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    Regulation of Gene Expression by Hypoxia-inducible Factor0.36
    2Drug metabolism - cytochrome P450
    Chemical carcinogenesis0.77
    3Translation Insulin regulation of translation
    Transcription Receptor-mediated HIF regulation0.51
    4Development PDGF signaling via STATs and NF-kB
    Development Angiopoietin - Tie2 signaling0.38
    5Signaling events mediated by VEGFR1 and VEGFR2
    Signaling events mediated by VEGFR1 and VEGFR20.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for ARNT
        Development Angiopoietin - Tie2 signaling
    Transcription Receptor-mediated HIF regulation
    Transcription Ligand-dependent activation of the ESR1/SP pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARNT
        AHR Pathway
    HIF1Alpha Pathway

    2 Cell Signaling Technology (CST) Pathways for ARNT
        Translational Control
    Angiogenesis

    3 GeneGo (Thomson Reuters) Pathways for ARNT
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Transcription Receptor-mediated HIF regulation
    Development Angiopoietin - Tie2 signaling

    5/7 BioSystems Pathways for ARNT (see all 7)
        Angiogenesis
    AhR pathway
    HIF-1-alpha transcription factor network
    Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
    Signaling events mediated by VEGFR1 and VEGFR2


    4        Reactome Pathways for ARNT
        Cellular response to hypoxia
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Regulation of Gene Expression by Hypoxia-inducible Factor
    Cellular responses to stress

    1 PharmGKB Pathway for ARNT
        Diuretics Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for ARNT):
        HIF-1 signaling pathway
    Pathways in cancer
    Chemical carcinogenesis
    Renal cell carcinoma


    ARNT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARNT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/111 Interacting proteins for ARNT (P275401, 2, 3 ENSP000003514074) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AHRP358691, 3, ENSP000002420574EBI-80809,EBI-80780 I2D: score=10 STRING: ENSP00000242057
    SMAD9O151982, 3MINT-62088 I2D: score=3 
    HIF1AQ166651, 3, ENSP000003380184EBI-80809,EBI-447269 I2D: score=12 STRING: ENSP00000338018
    NCOA7Q8NI081, 3, ENSP000003573414EBI-80809,EBI-80799 I2D: score=1 STRING: ENSP00000357341
    NCOR2Q9Y6181, 3, ENSP000003485514EBI-80809,EBI-80830 I2D: score=2 STRING: ENSP00000348551
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA8756616
    GO:0001892embryonic placenta development IEA--
    GO:0001938positive regulation of endothelial cell proliferation IC8756616
    GO:0006351transcription, DNA-dependent TAS1317062
    GO:0006355regulation of transcription, DNA-dependent ----

    ARNT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARNT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARNT

    10/25 Novoseek inferred chemical compound relationships for ARNT gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tcdd 85 36 11452142 (4), 8396713 (3), 8145729 (3), 9783729 (2) (see all 17)
    vegf 63.1 40 9950871 (5), 19020709 (4), 20122829 (2), 19287200 (2) (see all 17)
    alpha-naphthoflavone 56.3 6 8034660 (3)
    3-methylcholanthrene 54 2 9783729 (1), 11768231 (1)
    cocl2 54 1 11394885 (1)
    oxygen 44.8 18 11927290 (1), 18635960 (1), 9822602 (1), 10864977 (1) (see all 16)
    geldanamycin 38 3 10409767 (2)
    beta-naphthoflavone 37.2 1 11595506 (1)
    hydrocarbons 36.8 6 10409767 (1), 14672759 (1), 9211913 (1), 7526149 (1) (see all 5)
    benzo(a)pyrene 34.4 5 19539049 (1), 19428948 (1)

    Search CenterWatch for drugs/clinical trials and news about ARNT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARNT gene (4 alternative transcripts): 
    NM_001197325.1  NM_001668.3  NM_178427.2  NM_178426.1  

    Unigene Cluster for ARNT:

    Aryl hydrocarbon receptor nuclear translocator
    Hs.632446  [show with all ESTs]
    Unigene Representative Sequence: NM_001668
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358595(uc010pck.2 uc001evr.2 uc001evs.2 uc009wmd.2 uc009wmb.2 uc009wmc.2 uc009wme.2 uc010pcl.2)
    ENST00000471844 ENST00000354396 ENST00000515192 ENST00000505755 ENST00000510273
    ENST00000478972 ENST00000512296 ENST00000468970 ENST00000497108 ENST00000505979
    ENST00000504358

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    8/76 QIAGEN miScript miRNA Assays for microRNAs that regulate ARNT (see all 76):
    hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-3916 hsa-miR-629* hsa-miR-4325 hsa-miR-298 hsa-miR-3613-3p hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidARNT 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNT
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARNT

    Additional mRNA sequence: 

    AB209877.1 AF001307.1 AK290177.1 AK291705.1 AK293027.1 AK304772.1 AK313780.1 AK315812.1 
    AL834279.1 BC028362.1 BC041121.1 M69238.1 

    16 DOTS entries:

    DT.314972  DT.97775620  DT.99999712  DT.100817994  DT.100817997  DT.307072  DT.91775236  DT.95174379 
    DT.97769983  DT.97805283  DT.100644213  DT.121612109  DT.307073  DT.92015158  DT.95215706  DT.40128863 

    24/688 AceView cDNA sequences (see all 688):

    BE466622 CA413729 CK823703 AW149301 CA441772 AI470663 AW196744 AW577517 
    AA468880 BU948385 AI090277 AI379501 AL542246 CD367075 AA013462 BU740218 
    AL547908 BU623346 AA588426 AA653814 BQ548724 BM725764 AI433255 AI650987 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ARNT (see all 8)    About this scheme

    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:                    -                                                                                                                                       

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


    ECgene alternative splicing isoforms for ARNT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARNT expression in normal human tissues (normalized intensities)      ARNT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ARNT Expression
    About this image


    ARNT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See ARNT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARNT

    SOURCE GeneReport for Unigene cluster: Hs.632446
        SABiosciences Expression via Pathway-Focused PCR Arrays including ARNT (see all 9): 
              Cancer PathwayFinder in human mouse rat
              VEGF Signaling in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARNT gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arnt1 , 5 aryl hydrocarbon receptor nuclear translocator1, 5 89.69(n)1
    91.89(a)1
      3 (40.74 cM)5
    118631  NM_001037737.21  NP_001032826.11 
     954343885 
    chicken
    (Gallus gallus)
    Aves ARNT1 aryl hydrocarbon receptor nuclear translocator 76.49(n)
    81.34(a)
      374026  NM_204200.1  NP_989531.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARNT6
    aryl hydrocarbon receptor nuclear translocator
    79(a)
    1 ↔ 1
    GL343893.1(6854-47998)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC061940.12   -- 78.84(n)    BC061940.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arnt6
    aryl hydrocarbon receptor nuclear translocator
    56(a)
    1 ↔ 1
    16(5510608-5554436)
    fruit fly
    (Drosophila melanogaster)
    Insecta tgo1 , 3 tracheal system development (sensu
    Insecta) RNA more3
    tango1
    62(a)3
    54.57(n)1
    50.48(a)1
      85C23
    410841  NM_169254.11  NP_731308.11 
    worm
    (Caenorhabditis elegans)
    Secernentea aha-11 , 3 aryl hydrocarbon receptor nuclear
    translocator3
    Protein AHA-11
    47(a)3
    53.44(n)1
    51.09(a)1
      I(10202213-10205044)3
    1728891  NM_060286.31  NP_492687.11 


    ENSEMBL Gene Tree for ARNT (if available)
    TreeFam Gene Tree for ARNT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ARNT gene
    ARNT22  CLOCK2  NPAS22  EPAS12  NPAS32  HIF1A2  SIM22  SIM12  
    HIF3A2  ARNTL2  NPAS12  ARNTL22  
    6 SIMAP similar genes for ARNT using alignment to 9 protein entries:     ARNT_HUMAN (see all proteins):
    DKFZp686M216    ARNT2    NPAS2    ARNTL2    ARNTL    CLOCK

    ARNT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1202 SNPs in ARNT are shown (see all 1202)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs103057521,2
    C,F--122160867(-) GGGCC-/CTGGAC 3 -- ut311Minor allele frequency- C:0.02NS 148
    rs360938091,2
    C--122212716(+) AAAAA-/A/AA  
            
    GTTCA
    3 -- int11NA 2
    rs2016046641,2
    --122214899(+) AAATA-/AAAT  
            
    AATAA
    3 -- int10--------
    rs715803281,2
    C--150783934(+) GTGCG-/CA    
       
    /CACA
    CACAC
    6 -- ut311NA 2
    rs586306311,2
    C--150783954(+) ACACA-/CACA/CACACA/CA
    CACACA
    /CACATACACA
    TACAC
    12 -- ut31 cds11NA 2
    rs1995311751,2
    C--150786110(+) TTTTT-/TATTTT 3 -- int10--------
    rs727046341,2
    --150788209(+) GCGGGC/TGCCTG 3 -- int10--------
    rs789037911,2
    C,F--150788240(+) AAGGCA/TGAGGC 3 -- int11Minor allele frequency- T:0.00WA 2
    rs350034781,2
    C--150788339(+) AAAAAA/-AAAAA 3 -- int11Minor allele frequency- -:0.00NA 2
    rs356729261,2
    C--150790289(+) AAAAA-/A/AA  
            
    TTAAC
    3 -- int10--------

    HapMap Linkage Disequilibrium report for ARNT (150782181 - 150849244 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ARNT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2788CNV Loss18451855
    nsv872420CNV Loss21882294
    nsv437169CNV Loss16327808
    nsv2810CNV Loss18451855
    esv5926CNV Gain19470904
    nsv872418CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126110    OMIM disorders: --

    20/35 diseases for ARNT (see all 35):    About MalaCards
    hypoxia    estrogen-receptor negative breast cancer    neuromuscular disease    endometriosis
    insulinoma    leukemia    vitiligo    pituitary adenoma
    esophageal adenocarcinoma    cytochrome p450    gastric cancer    retinoblastoma
    infertility    acute lymphoblastic leukemia    lymphoblastic leukemia    breast cancer
    hypertension    adenoma    endotheliitis    neuroblastoma


    ARNT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/14 Novoseek inferred disease relationships for ARNT gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    endometriosis 19.5 9 16084889 (4), 10724351 (2), 11452142 (1), 11393538 (1) (see all 5)
    tumors 15.8 6 11457733 (1), 19145330 (1), 11309328 (1), 19339211 (1) (see all 5)
    cancer 14.1 2 11457733 (1), 15479785 (1)
    breast cancer 8.75 6 11309328 (3), 16567799 (1), 12761348 (1)
    carcinoma 4.5 2 10928066 (1)
    gastric cancer 3.05 6 19287200 (2), 15199114 (1), 19738050 (1)
    solid tumor 0.498 1 9223322 (1)
    leukemia 0 2 16547490 (1), 14766942 (1)
    herpes simplex 0 1 10545212 (1)
    shock 0 3 8396713 (2), 9498548 (1)

    Genetic Association Database (GAD): ARNT
    Human Genome Epidemiology (HuGE) Navigator: ARNT (34 documents)

    Export disorders for ARNT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ARNT gene, integrated from 9 sources (see all 364):
    (articles sorted by number of sources associating them with ARNT)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 18366646)1, 4, 9 Das S.K....Elbein S.C. (2008)
    2. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PubMed id 17559847)1, 4, 9 Merisalu A....Salumets A. (2007)
    3. The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage. (PubMed id 16364012)1, 4, 9 Sullivan A.E....Silver R.M. (2006)
    4. Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity. (PubMed id 16084889)1, 4, 9 Tsuchiya M.... Ikenoue T. (2005)
    5. Identification of the Ah receptor nuclear translocator protein (Arnt) as a component of the DNA binding form of the Ah receptor. (PubMed id 1317062)1, 2, 9 Reyes H.... Hankinson O. (1992)
    6. Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension. (PubMed id 7539918)1, 2, 9 Wang G.L.... Semenza G.L. (1995)
    7. Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. (PubMed id 11393538)1, 4, 9 Watanabe T....Inazawa J. (2001)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Genetic Variation in the Bioactivation Pathway for Po lycyclic Hydrocarbons and Heterocyclic Amines in Relation to Risk of Colorectal Neoplasia. (PubMed id 21081473)1, 4 Wang H....Le Marchand L. (2010)
    10. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 405 HGNC: 700 AceView: CTSKandARNT Ensembl:ENSG00000143437 euGenes: HUgn405
    ECgene: ARNT Kegg: 405 H-InvDB: ARNT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ARNT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ARNT Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/arnt/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARNT gene:
    Search GeneIP for patents involving ARNT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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