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ARNT2 Gene

protein-coding   GIFtS: 63
GCID: GC15P080696

Aryl-Hydrocarbon Receptor Nuclear Translocator 2

  See ARNT2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aryl-Hydrocarbon Receptor Nuclear Translocator 21 2     Aryl Hydrocarbon Receptor Nuclear Translocator 22
Class E Basic Helix-Loop-Helix Protein 12 3     BHLHE13
ARNT Protein 22 3     KIAA03073
bHLHe12 3     

External Ids:    HGNC: 168761   Entrez Gene: 99152   Ensembl: ENSG000001723797   OMIM: 6060365   UniProtKB: Q9HBZ23   

Export aliases for ARNT2 gene to outside databases

Previous GC identifers: GC15M076819 GC15P073853 GC15P078272 GC15P078412 GC15P078484 GC15P057454


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARNT2 Gene:
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription
factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming
heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and
environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor
1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of
oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon
receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of
xenobiotic compounds and the regulation of neurogenesis, respectively. (provided by RefSeq, Dec 2013)

GeneCards Summary for ARNT2 Gene:
ARNT2 (aryl-hydrocarbon receptor nuclear translocator 2) is a protein-coding gene. Diseases associated with ARNT2 include hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies, and hypoxia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and signal transducer activity. An important paralog of this gene is CLOCK.

UniProtKB/Swiss-Prot: ARNT2_HUMAN, Q9HBZ2
Function: Specifically recognizes the xenobiotic response element (XRE)

Gene Wiki entry for ARNT2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARNT2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   NF-kappaB   S8   E2F   E2F-1   Pax-4a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARNT2 promoter sequence
   Search Chromatin IP Primers for ARNT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARNT2


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

Entrez Gene cytogenetic band: 15q24   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q25.1

ARNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARNT2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P080696:  view genomic region     (about GC identifiers)

Start:
80,696,692 bp from pter      End:
80,890,278 bp from pter
Size:
193,587 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ARNT2_HUMAN, Q9HBZ2 (See protein sequence)
Recommended Name: Aryl hydrocarbon receptor nuclear translocator 2  
Size: 717 amino acids; 78691 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with the aryl
hydrocarbon receptor (AHR) or the SIM1 protein. Interacts with TACC3 (By similarity)
Sequence caution: Sequence=AAH36099.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Sequence=BAA20766.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DIS7 O15024 Q8IYC2
Alternative splicing: 2 isoforms:  Q9HBZ2-1   Q9HBZ2-2   

Explore the universe of human proteins at neXtProt for ARNT2: NX_Q9HBZ2

Explore proteomics data for ARNT2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARNT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055677.3  
    ENSEMBL proteins: 
     ENSP00000307479   ENSP00000453651   ENSP00000453792   ENSP00000452961  

    ARNT2 Human Recombinant Protein Products:

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    antibodies-online proteins for ARNT2 (8 products) 

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

    5 InterPro protein domains:
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom
     IPR001067 Nuc_translocat

    Graphical View of Domain Structure for InterPro Entry Q9HBZ2

    ProtoNet protein and cluster: Q9HBZ2

    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: ARNT2_HUMAN, Q9HBZ2
    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


    Find genes that share domains with ARNT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARNT2_HUMAN, Q9HBZ2
    Function: Specifically recognizes the xenobiotic response element (XRE)

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0017162aryl hydrocarbon receptor binding ISS--
         
    Find genes that share ontologies with ARNT2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ARNT2:
     Cell cycle / mitosis defect 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Arnt2):
     cellular  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  nervous system 

    Find genes that share phenotypes with ARNT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ARNT2: Arnt2tm1Mcs Arnt2tm1Yfk

       genOway: Develop your customized and physiologically relevant rodent model for ARNT2

    miRNA
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    miRTarBase miRNAs that target ARNT2:
    hsa-mir-26b-5p (MIRT029615), hsa-let-7e-5p (MIRT051426)

    Block miRNA regulation of human, mouse, rat ARNT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARNT2 (see all 30):
    hsa-miR-323-3p hsa-miR-34b* hsa-miR-376b hsa-miR-181c hsa-miR-181a-2* hsa-miR-766 hsa-miR-23a hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidARNT2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARNT2

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARNT2_HUMAN, Q9HBZ2: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12239177
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with ARNT2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ARNT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    2Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    3Renal cell carcinoma
    Renal cell carcinoma
    4Pathways in cancer
    Pathways in cancer


    Find genes that share SuperPaths with ARNT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Kegg Pathways  (Kegg details for ARNT2):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Renal cell carcinoma

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARNT2
    Interactions:

        Search GeneGlobe Interaction Network for ARNT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for ARNT2 (Q9HBZ22, 3 ENSP000003074794) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP7Q930092, 3, ENSP000003435354MINT-2867865 I2D: score=3 STRING: ENSP00000343535
    NPAS4Q8IUM73, ENSP000003111964I2D: score=2 STRING: ENSP00000311196
    SIM2Q141903, ENSP000002903994I2D: score=2 STRING: ENSP00000290399
    AHRP358693, ENSP000002420574I2D: score=1 STRING: ENSP00000242057
    EPAS1Q998143, ENSP000002637344I2D: score=1 STRING: ENSP00000263734
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA12239177
    GO:0001701in utero embryonic development ISS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IDA11782478
    GO:0007165signal transduction ----

    Find genes that share ontologies with ARNT2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARNT2

    1 Novoseek inferred chemical compound relationship for ARNT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oxygen 10.9 2 11811994 (1), 10873592 (1)



    Find genes that share compounds with ARNT2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARNT2 gene: 
    NM_014862.3  

    Unigene Cluster for ARNT2:

    Aryl-hydrocarbon receptor nuclear translocator 2
    Hs.459070  [show with all ESTs]
    Unigene Representative Sequence: NM_014862
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529181(uc002bfq.3) ENST00000303329(uc002bfr.3) ENST00000533983(uc010unm.2 uc002bfs.3)
    ENST00000527771 ENST00000525103 ENST00000531595 ENST00000558849 ENST00000525505

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARNT2 (see all 30):
    hsa-miR-323-3p hsa-miR-34b* hsa-miR-376b hsa-miR-181c hsa-miR-181a-2* hsa-miR-766 hsa-miR-23a hsa-miR-3941
    SwitchGear 3'UTR luciferase reporter plasmidARNT2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat ARNT2

    Additional mRNA sequence: 

    AB002305.1 AK295763.1 AL110093.1 BC029293.1 BC036099.1 BC051335.1 BX538026.1 BX647212.1 

    9 DOTS entries:

    DT.101981868  DT.216679  DT.100821451  DT.121016476  DT.121016479  DT.100821443  DT.100821445  DT.100821453 
    DT.121016525 

    Selected AceView cDNA sequences (see all 204):

    CD675438 AA351092 AA757292 BM758141 BM697599 CA439137 N22010 BM973448 
    AW593174 AI633840 AW050840 AV725685 AL138048 AU133084 BU176478 CB156438 
    AL602530 BU735782 BC029293 BQ876829 AA883538 BX647212 AW269362 CR610681 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ARNT2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:              -     -                                                     -                                                                                 
    SP2:                                                                          -                                                                                 
    SP3:                                                                                                                                                            
    SP4:              -     -                                                                                                                                       
    SP5:                    -                                                                                                                                       


    ECgene alternative splicing isoforms for ARNT2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARNT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCACCTGG
    ARNT2 Expression
    About this image


    ARNT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)
             Retina
    ARNT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARNT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459070
        Custom PCR Arrays for ARNT2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNT2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARNT2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arnt21 , 5 aryl hydrocarbon receptor nuclear translocator 21, 5 89.04(n)1
    97.75(a)1
      7 (48.35 cM)5
    118641  NM_007488.31  NP_031514.31 
     842462785 
    chicken
    (Gallus gallus)
    Aves ARNT21 aryl-hydrocarbon receptor nuclear translocator 2 82.5(n)
    95.39(a)
      415481  XM_413854.4  XP_413854.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARNT26
    aryl-hydrocarbon receptor nuclear translocator 2
    92(a)
    1 ↔ 1
    GL343332.1(569658-621384)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY331399.12   -- 78.29(n)    AY331399.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF219989.12   -- 75.79(n)   64277  AF219989.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tgo3 tracheal system development (sensu
    Insecta) RNA more
    63(a)   85C2   --
    worm
    (Caenorhabditis elegans)
    Secernentea aha-13 aryl hydrocarbon receptor nuclear
    translocator
    48(a)   I(10202213-10205044)   --


    ENSEMBL Gene Tree for ARNT2 (if available)
    TreeFam Gene Tree for ARNT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARNT2 gene
    CLOCK2  NPAS22  AHR2  ARNT2  EPAS12  NPAS32  HIF1A2  SIM22  
    SIM12  HIF3A2  ARNTL2  NPAS12  ARNTL22  AHRR2  
    4 SIMAP similar genes for ARNT2 using alignment to 3 protein entries:     ARNT2_HUMAN (see all proteins):
    DKFZp686M216    ARNT    ARNTL    ARNTL2

    Find genes that share paralogs with ARNT2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARNT2 (see all 3866)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1453791181,2
    C,Funtested180872845(+) AACCAG/TAGTCA 2 Q H mis12Minor allele frequency- T:0.01NA EU 5873
    rs584376371,2
    C--60751220(+) CACTT-/AAGAT 
            
    TTTTG
    1 -- int12Minor allele frequency- AAGAT:0.25NA 4
    rs22787031,2
    C,F,A,H--80694883(-) TCACTG/TCCCCC 1 -- us2k123Minor allele frequency- T:0.41EA NS NA WA CSA 3845
    rs1903130401,2
    --80694906(+) TTTATA/GGGCTA 1 -- us2k10--------
    rs22787021,2
    C,F,A,H--80694922(-) TCTGGT/AGGCCC 1 -- us2k126Minor allele frequency- A:0.21EA NS NA WA CSA 4258
    rs740277561,2
    C,F--80695017(+) TGGAGT/AGAGTG 1 -- us2k12Minor allele frequency- A:0.02WA 120
    rs22787011,2
    C,F,H--80695115(-) ACCCCG/AAAAAG 1 -- us2k120Minor allele frequency- A:0.48EA NS NA CSA WA 3833
    rs620087931,2
    C,F--80695135(+) AGAGGC/GTGAAT 1 -- us2k14Minor allele frequency- G:0.32NA EA 244
    rs1478290361,2
    --80695186(+) TGATAA/CGGGGC 1 -- us2k10--------
    rs1424049911,2
    --80695205(+) GGGCCA/TTAGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARNT2 (80696692 - 80890278 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ARNT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749945CNV Deletion23290073
    esv2004346CNV Deletion18987734
    esv273251CNV Insertion20981092
    nsv471685CNV Gain15918152

    Human Gene Mutation Database (HGMD): ARNT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARNT2
    DNA2.0 Custom Variant and Variant Library Synthesis for ARNT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606036    OMIM disorders: --

    2 diseases for ARNT2:    
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    hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies    hypoxia


    Find genes that share disorders with ARNT2           About GenesLikeMe

    Genetic Association Database (GAD): ARNT2
    Human Genome Epidemiology (HuGE) Navigator: ARNT2 (2 documents)

    Export disorders for ARNT2 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)
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    PubMed articles for ARNT2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ARNT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. (PubMed id 12210012)1, 2, 9 Barrow L.L.... Murray J.C. (Teratology 2002)
    2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    3. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)
    4. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)1, 4 Ferreira M.A....Craddock N. (Nat. Genet. 2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. (PubMed id 11247670)1, 3 Wines M.E.... Holdener B.C. (Genomics 2001)
    7. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (DNA Res. 1997)
    8. Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription. (PubMed id 17826745)1, 9 Friedman E.R. and Fan C.M. (Biochem. Biophys. Res. Commun. 2007)
    9. Hypoxia-inducible erythropoietin gene expression in human neuroblastoma cells. (PubMed id 12239177)1, 9 Stolze I....Fandrey J. (Blood 2002)
    10. Identification of the hypoxia-inducible factor 2I+ nuclear interactome in melanoma cells reveals master proteins involved in melanoma development. (PubMed id 23275444)1 Steunou A.L....Nieto L. (amp 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 9915 HGNC: 16876 AceView: ARNT2 Ensembl:ENSG00000172379 euGenes: HUgn9915
    ECgene: ARNT2 Kegg: 9915 H-InvDB: ARNT2

    (According to HUGE)
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    HUGE: KIAA0307

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARNT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARNT2 gene:
    Search GeneIP for patents involving ARNT2

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



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