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

AHRR Gene

protein-coding   GIFtS: 49
GCID: GC05P000291

Aryl-Hydrocarbon Receptor Repressor

(Previous name: aryl hydrocarbon receptor regulator)
(Previous symbols: AHH, AHHR)
  See 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)
About This Section

Aliases
Aryl-Hydrocarbon Receptor Repressor1 2     Aryl Hydrocarbon Receptor Regulator1
AHH1 2     Aryl Hydrocarbon Hydroxylase Regulator2
AHHR1 2     Aryl Hydrocarbon Receptor Repressor2
AhR Repressor2 3     Dioxin Receptor Repressor2
Class E Basic Helix-Loop-Helix Protein 772 3     AhRR3
bHLHe772 3     BHLHE773
KIAA12343 5     

External Ids:    HGNC: 3461   Entrez Gene: 574912   Ensembl: ENSG000000634387   OMIM: 6065175   UniProtKB: A9YTQ33   

Export aliases for AHRR gene to outside databases

Previous GC identifers: GC05U990138 GC05P000303 GC02U900446 GC05P000357 GC05P000325 GC05P000327


(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 AHRR Gene:
The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which
mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a
feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants
encoding different isoforms have been described for this gene. (provided by RefSeq, Jun 2011)

GeneCards Summary for AHRR Gene: 
AHRR (aryl-hydrocarbon receptor repressor) is a protein-coding gene. Diseases associated with AHRR include dysgammaglobulinemia, and ovarian cystadenoma. GO annotations related to this gene include protein dimerization activity and signal transducer activity. An important paralog of this gene is AHR.

UniProtKB/Swiss-Prot: AHRR_HUMAN, A9YTQ3
Function: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the
transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT
and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory
region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or
HDAC5. Autoregulates its expression by associating with its own XRE site




(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
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AHRR gene promoter:
         AhR   MEF-2A   RFX1   POU2F1   NRSF form 1   FOXD3   LUN-1   aMEF-2   CUTL1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAHRR promoter sequence
   Search SABiosciences Chromatin IP Primers for AHRR

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


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

Entrez Gene cytogenetic band: 5p15.3   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P000291:  view genomic region     (about GC identifiers)

Start:
304,291 bp from pter      End:
438,406 bp from pter
Size:
134,116 bases      Orientation:
plus 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: AHRR_HUMAN, A9YTQ3 (See protein sequence)
Recommended Name: Aryl hydrocarbon receptor repressor  
Size: 701 amino acids; 76265 Da
Subunit: Interacts with ARNT, ANKRA2, HDAC4 and HDAC5 (By similarity)
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly in the nuclear compartment. First cytoplasmic,
translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment
Sequence caution: Sequence=ABX89616.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA86548.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A7MBN5 D6RAZ1 Q9HAZ3 Q9ULI6
Alternative splicing: 3 isoforms:  A9YTQ3-1   A9YTQ3-2   A9YTQ3-3   

Explore the universe of human proteins at neXtProt for AHRR: NX_A9YTQ3

Explore proteomics data for AHRR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A9YTQ3

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

    AHRR Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001229341.1  NP_065782.2  

    ENSEMBL proteins: 
     ENSP00000424601   ENSP00000323816   ENSP00000424880   ENSP00000430914   ENSP00000428893  
     ENSP00000430842   ENSP00000429944   ENSP00000426932   ENSP00000426076  

    Human Recombinant Protein Products for AHRR: 
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    Novus Biologicals AHRR Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AHRR 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    AHRR for ontologies           About GeneDecksing



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    Assay Products for AHRR: 
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    Cloud-Clone Corp. CLIAs for AHRR


    (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

    3 InterPro protein domains:
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry A9YTQ3

    ProtoNet protein and cluster: A9YTQ3

    UniProtKB/Swiss-Prot: AHRR_HUMAN, A9YTQ3
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAS (PER-ARNT-SIM) domain


    AHRR 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: AHRR_HUMAN, A9YTQ3
    Function: Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the
    transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT
    and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory
    region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or
    HDAC5. Autoregulates its expression by associating with its own XRE site
    Induction: By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004871signal transducer activity IEA--
    GO:0046983protein dimerization activity IEA--
         
    AHRR for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ahrr):
     homeostasis/metabolism  tumorigenesis 

    AHRR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ahrrtm1Yfk for AHRR

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AHRR 
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    miRNA
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    hsa-miR-3685 hsa-miR-125a-5p hsa-miR-106a hsa-miR-488 hsa-miR-374c hsa-miR-124 hsa-miR-125b hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidAHRR 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of AHRR 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHRR


    (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 AHRR About                                                                                                See pathways by source

    SuperPathContained pathways About
    1AhR pathway
    AhR pathway
    2AHR Pathway
    AHR Pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for AHRR
        AHR Pathway

    1 BioSystems Pathway for AHRR
        AhR pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AHRR

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

    5/36 Interacting proteins for AHRR (A9YTQ33 ENSP000003238164) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC4P565243, ENSP000002646064I2D: score=1 STRING: ENSP00000264606
    ANKRA2Q9H9E13, ENSP000002967854I2D: score=1 STRING: ENSP00000296785
    ARNTP275403, ENSP000003514074I2D: score=2 STRING: ENSP00000351407
    ESR1P033723, ENSP000002062494I2D: score=1 STRING: ENSP00000206249
    HDAC5Q9UQL63, ENSP000002259834I2D: score=1 STRING: ENSP00000225983
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007165signal transduction ----
    GO:0033235positive regulation of protein sumoylation IEA--

    AHRR 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

    AHRR for compounds           About GeneDecksing

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

    Browse Tocris compounds for AHRR

    1 Novoseek inferred chemical compound relationship for AHRR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ethoxyresorufin 69.5 3 15720127 (1), 17184820 (1), 18502506 (1)

    Search CenterWatch for drugs/clinical trials and news about AHRR

    (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 AHRR gene (2 alternative transcripts): 
    NM_001242412.1  NM_020731.4  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505113 ENST00000316418(uc003jav.3 uc003jaw.3 uc010isy.3 uc010isz.3 uc003jax.3 uc003jay.3 uc003jaz.3)
    ENST00000512529 ENST00000514523 ENST00000510400 ENST00000515206 ENST00000504625
    ENST00000506456 ENST00000510910 ENST00000511487 ENST00000507048
    miRNA
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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate AHRR (see all 19):
    hsa-miR-3685 hsa-miR-125a-5p hsa-miR-106a hsa-miR-488 hsa-miR-374c hsa-miR-124 hsa-miR-125b hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidAHRR 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHRR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHRR
    Sirion Biotech Customized lentivirus for stable overexpression of AHRR 
                         Customized lentivirus expression plasmids for stable overexpression of AHRR 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AHRR
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AHRR

    24/202 AceView cDNA sequences (see all 202):

    BQ962370 BX105815 BC012384 NM_013232 CB529916 BG654353 BM723201 AA883945 
    AA973056 CR592133 BI836980 BI764882 AI798286 BG655707 W79301 BX280779 
    BU508015 AW439592 AI984608 T34498 BC028242 BI822063 BM693810 CR608684 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for AHRR (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^ 11 ^ 12 ^
    SP1:                                                              -     -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                -                 -           -           -     -           -                                                               
    SP5:                                                  -           -           -     -           -                                                               

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c · 23d
    SP1:  -                 -     -                                                           -                                       
    SP2:                          -                       -                 -                 -                                       
    SP3:                          -                                         -                 -                                       
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for AHRR

    (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

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


    AHRR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Blood (Hematopoietic System)
             bone marrow-derived macrophages   

     -- (Integumentary System)
             skin   

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

    UniProtKB/Swiss-Prot: AHRR_HUMAN, A9YTQ3
    Tissue specificity: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear
    cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus.
    Down-regulated malignant tissue from different anatomical origins, including colon, breast, lung, stomach,
    cervix, and ovary

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHRR

    (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 AHRR gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahrr1 , 5 aryl-hydrocarbon receptor repressor1, 5 71.41(n)1
    64.39(a)1
      13 (40.15 cM)5
    116241  NM_009644.21  NP_033774.11 
     742111185 
    chicken
    (Gallus gallus)
    Aves AHRR1 aryl-hydrocarbon receptor repressor 56.87(n)
    50.51(a)
      420989  NM_001201387.1  NP_001188316.1 
    lizard
    (Anolis carolinensis)
    Reptilia AHRR6
    Uncharacterized protein
    46(a)
    1 ↔ 1
    6(54897246-54925148)
    zebrafish
    (Danio rerio)
    Actinopterygii ahrrb6
    aryl-hydrocarbon receptor repressor b
    38(a)
    1 ↔ 1
    2(50703832-50768566)
    fruit fly
    (Drosophila melanogaster)
    Insecta ss6
    spineless
    12(a)
    1 → many
    3R(12200148-12229412)
    worm
    (Caenorhabditis elegans)
    Secernentea ahr-16
    Aryl hydrocarbon receptor protein 1
    18(a)
    1 → many
    I(9522578-9531130)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AHRR gene
    AHR2  
    3 SIMAP similar genes for AHRR using alignment to 8 protein entries:     AHRR_HUMAN (see all proteins):
    ARNTL    NPAS2    HIF3A

    AHRR 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

    UniProtKB/Swiss-Prot: AHRR_HUMAN, A9YTQ3
    Polymorphism: The Ala-189 allele may be a susceptibility factor for dioxin-related male infertility. Homozygosity
    for Ala-189 is observed in azoospermic individuals at higher frequency than in normozoospermic individuals. Might
    also be associated with susceptibility to and severity of endometriosis


    10/3239 SNPs in AHRR are shown (see all 3239)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1498205031,2
    --287909(+) GAGGGC/TGGGTC 2 -- us2k10--------
    rs766234151,2
    C--314145(+) CCTGCTGTGTC  
      CTGA
    /-
    GCTGC
    2 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs15679561,2
    C,F,A--315616(-) AACTGG/TGTGGA 2 -- int18Minor allele frequency- T:0.16NA PA WA 496
    rs2015337351,2
    --315659(+) TGGGA-/TCTTCTGT 2 -- cds10--------
    rs111339691,2
    C--315660(+) GGGATCTTC    
       TAC
    /-
    CTGTT
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs39756661,2
    C--315662(+) GATCT-/TC    
       TACCT
    GTTCA
    2 -- int10--------
    rs560613261,2
    C,F--315678(+) CTGCTC/TGGTGT 2 -- int12Minor allele frequency- T:0.07WA 120
    rs131631181,2
    C--315679(+) TGCTCG/AGTGTG 2 -- int18Minor allele frequency- A:0.32NA WA EA 368
    rs1400339291,2
    --315709(+) GAGCAC/TGGTTT 2 -- int10--------
    rs1998958831,2
    C--315759(+) GCTGT-/GGGGGG 2 -- int10--------

    HapMap Linkage Disequilibrium report for AHRR (304291 - 438406 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/56 variations for AHRR (see all 56):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2369327CNV Deletion18987734
    esv1500777CNV Deletion17803354
    esv2094113CNV Deletion18987734
    esv2674163CNV Deletion23128226
    esv2095296CNV Deletion18987734
    esv2231288CNV Deletion18987734
    esv995455CNV Deletion20482838
    esv1997829CNV Deletion18987734
    esv2581256CNV Deletion19546169
    nsv327676CNV Insertion16902084


    Human Gene Mutation Database (HGMD): AHRR
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AHRR
    DNA2.0 Custom Variant and Variant Library Synthesis for AHRR

    (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: 606517    OMIM disorders: --

    20 diseases for AHRR:    About MalaCards
    dysgammaglobulinemia    ovarian cystadenoma    cystadenoma    male infertility
    azoospermia    infertility    endometriosis    laryngitis
    esophageal adenocarcinoma    liver disease    gastric adenocarcinoma    esophageal squamous cell carcinoma
    cystic fibrosis    esophagitis    squamous cell carcinoma    lung cancer
    hypoxia    hepatitis b    adenocarcinoma    hepatitis


    AHRR for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for AHRR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ahh inducibility 96.4 14 1811685 (3), 7550366 (1), 2070496 (1)
    cancer lung 51.1 18 8162876 (7), 2070496 (2), 12777964 (2), 2134687 (1) (see all 6)
    liver diseases 21.9 2 2040107 (2)
    tumors 0 3 8162876 (2)
    cancer 0 9 8162876 (4), 1811685 (2)

    Genetic Association Database (GAD): AHRR
    Human Genome Epidemiology (HuGE) Navigator: AHRR (662 documents)

    Export disorders for AHRR 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 AHRR gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with AHRR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PubMed id 17559847)1, 2, 4 Merisalu A....Salumets A. (2007)
    2. Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. (PubMed id 11835227)1, 2, 4 Fujita H.... Kosaki K. (2002)
    3. Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: organ-specific distribution and variable induction patterns in mononuclear cells. (PubMed id 14672759)1, 2, 9 Yamamoto J.... Hara T. (2004)
    4. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PubMed id 21602797)1, 4 Wright F.A....Cutting G.R. (2011)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. Evaluation of 172 candidate polymorphisms for associa tion with oligozoospermia or azoospermia in a large cohort of men of European d escent. (PubMed id 20378615)1, 4 Aston K.I....Carrell D.T. (2010)
    7. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    8. Association between patient age at the time of surgic al treatment for endometriosis and aryl hydrocarbon receptor repressor polymorp hism. (PubMed id 19501819)1, 4 Asada H....Yoshimura Y. (2009)
    9. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    10. The aryl hydrocarbon receptor repressor is a putative tumor suppressor gene in multiple human cancers. (PubMed id 18172554)1, 2 Zudaire E....Cuttitta F. (2008)

    (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: 57491 HGNC: 346 AceView: PDCD6 Ensembl:ENSG00000063438 euGenes: HUgn57491
    ECgene: AHRR H-InvDB: AHRR

    (According to HUGE)
    About This Section
    HUGE: KIAA1234

    (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 AHRR Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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