The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this pro... See more...

Aliases for AHR Gene

Aliases for AHR Gene

  • Aryl Hydrocarbon Receptor 2 3 4 5
  • BHLHe76 2 3 4
  • Class E Basic Helix-Loop-Helix Protein 76 3 4
  • Ah Receptor 3 4
  • Aromatic Hydrocarbon Receptor 3
  • AH-Receptor 3
  • BHLHE76 4
  • RP85 3
  • AHR 5
  • AhR 4

External Ids for AHR Gene

Previous GeneCards Identifiers for AHR Gene

  • GC07P016982
  • GC07P017082
  • GC07P017111
  • GC07P017304
  • GC07P017224

Summaries for AHR Gene

Entrez Gene Summary for AHR Gene

  • The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]

GeneCards Summary for AHR Gene

AHR (Aryl Hydrocarbon Receptor) is a Protein Coding gene. Diseases associated with AHR include Retinitis Pigmentosa 85 and Retinitis Pigmentosa. Among its related pathways are Cytochrome P450 - arranged by substrate type and Aryl Hydrocarbon Receptor Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ENSG00000283321.

UniProtKB/Swiss-Prot Summary for AHR Gene

  • Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates (PubMed:10395741, PubMed:28602820, PubMed:7961644, PubMed:23275542, PubMed:30373764). Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene) (PubMed:7961644). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons (PubMed:7961644). Involved in cell-cycle regulation (PubMed:12213388). Likely to play an important role in the development and maturation of many tissues (PubMed:12213388). Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1 (PubMed:28602820). Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of PER1. The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820).

Tocris Summary for AHR Gene

  • Aryl hydrocarbon receptors (AHRs) are cytosolic transcription factors that exist bound to co-chaperones in the resting state. Ligand binding causes the co-chaperones to dissociate, allowing AHR to translocate to the nucleus, dimerize and alter transcription of target genes.

Gene Wiki entry for AHR Gene

PharmGKB "VIP" Summary for AHR Gene

No data available for CIViC Summary , Rfam classification and piRNA Summary for AHR Gene

Genomics for AHR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AHR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J017297 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.7 +384.1 384069 6.7 HNRNPL CREB1 CTCF PRDM10 POLR2A BACH1 ZHX2 LARP7 ZNF143 RBFOX2 ENSG00000237773 AHR ENSG00000283321 LOC101927609 LINC02889 lnc-AHR-4 SNX13
GH07J016913 Enhancer 1 Ensembl ENCODE 600.7 -0.6 -555 5.1 GATAD2A CTCF PRDM10 TFE3 NFKBIZ RCOR2 JUND FOXA1 RXRB REST AHR AGR3 AGR2 TSPAN13 lnc-AHR-1 LOC100131425
GH07J017339 Promoter/Enhancer 0.6 EPDnew dbSUPER 600 +423.6 423614 0.1 POLR2A lnc-AHR-4 AHR ENSG00000199473 ENSG00000236318 ENSG00000283321 ENSG00000237773 SNX13
GH07J017322 Promoter/Enhancer 0.5 EPDnew Ensembl 600 +406.0 406042 0.4 AHR lnc-AHR-4 ENSG00000237773 ENSG00000283321 SNX13
GH07J017340 Promoter/Enhancer 0.5 EPDnew dbSUPER 600 +423.9 423852 0.1 lnc-AHR-4 AHR ENSG00000199473 ENSG00000236318 ENSG00000283321 ENSG00000237773 SNX13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AHR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AHR

Top Transcription factor binding sites by QIAGEN in the AHR gene promoter:
  • c-Myc
  • GR
  • GR-alpha
  • HNF-3beta
  • Max1
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for AHR Gene

Genomic Locations for AHR Gene
chr7:16,916,359-17,346,152
(GRCh38/hg38)
Size:
429,794 bases
Orientation:
Plus strand
chr7:17,338,246-17,385,776
(GRCh37/hg19)
Size:
47,531 bases
Orientation:
Plus strand

Genomic View for AHR Gene

Genes around AHR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHR Gene

Proteins for AHR Gene

  • Protein details for AHR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35869-AHR_HUMAN
    Recommended name:
    Aryl hydrocarbon receptor
    Protein Accession:
    P35869
    Secondary Accessions:
    • A4D130
    • Q13728
    • Q13803
    • Q13804

    Protein attributes for AHR Gene

    Size:
    848 amino acids
    Molecular mass:
    96147 Da
    Quaternary structure:
    • Homodimer (By similarity). Binds MYBBP1A (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Interacts with coactivators including SRC-1, RIP140 and NOCA7, and with the corepressor SMRT. Interacts with NEDD8 and IVNS1ABP. Interacts with ARNTL/BMAL1. Interacts with HSP90AB1 (By similarity). Interacts with ARNT; the heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820). Interacts with TIPARP; leading to mono-ADP-ribosylation of AHR and subsequent inhibition of AHR (PubMed:23275542, PubMed:30373764).

    Three dimensional structures from OCA and Proteopedia for AHR Gene

neXtProt entry for AHR Gene

Post-translational modifications for AHR Gene

  • Mono-ADP-ribosylated, leading to inhibit transcription activator activity of AHR.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AHR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AHR Gene

Domains & Families for AHR Gene

Gene Families for AHR Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for AHR Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • PAC motif
  • PAS fold-3
ProtoNet:

Suggested Antigen Peptide Sequences for AHR Gene

GenScript: Design optimal peptide antigens:
  • Class E basic helix-loop-helix protein 76 (AHR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35869

UniProtKB/Swiss-Prot:

AHR_HUMAN :
  • The PAS 1 domain is essential for dimerization and also required for AHR:ARNT heterodimerization.
Domain:
  • The PAS 1 domain is essential for dimerization and also required for AHR:ARNT heterodimerization.
genes like me logo Genes that share domains with AHR: view

Function for AHR Gene

Molecular function for AHR Gene

UniProtKB/Swiss-Prot Function:
Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates (PubMed:10395741, PubMed:28602820, PubMed:7961644, PubMed:23275542, PubMed:30373764). Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene) (PubMed:7961644). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons (PubMed:7961644). Involved in cell-cycle regulation (PubMed:12213388). Likely to play an important role in the development and maturation of many tissues (PubMed:12213388). Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1 (PubMed:28602820). Inhibits PER1 by repressing the CLOCK-ARNTL/BMAL1 heterodimer mediated transcriptional activation of PER1. The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820).
UniProtKB/Swiss-Prot Induction:
Induced or repressed by TGFB1 and dioxin in a cell-type specific fashion. Repressed by cAMP, retinoic acid, and 12-O-tetradecanoyl phorbol-13 acetate (TPA).
GENATLAS Biochemistry:
aryl hydrocarbon receptor,unliganded,retained in cytoplasm in resting state in association with HSP90,and with AIP (AH receptor associated protein 9),released after exposure to xenobiotics,dimerizing with ARNT and translocated to the nucleus interacting with pRB1 to induce G1 arrest

Phenotypes From GWAS Catalog for AHR Gene

Gene Ontology (GO) - Molecular Function for AHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 15681594
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IDA 23275542
GO:0001094 TFIID-class transcription factor complex binding IPI 15641800
GO:0001223 transcription coactivator binding IPI 15641800
genes like me logo Genes that share ontologies with AHR: view
genes like me logo Genes that share phenotypes with AHR: view

Human Phenotype Ontology for AHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AHR Gene

MGI Knock Outs for AHR:
  • Ahr Ahr<tm1Yfk>
  • Ahr Ahr<tm1Bra>
  • Ahr Ahr<tm1Gonz>
  • Ahr Ahr<tm1.2Arte>

Animal Model Products

CRISPR Products

miRNA for AHR Gene

miRTarBase miRNAs that target AHR

Transcription Factor Targets for AHR Gene

Selected GeneGlobe predicted Target genes for AHR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHR

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for AHR Gene

Localization for AHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHR Gene

Cytoplasm. Nucleus. Note=Initially cytoplasmic; upon binding with ligand and interaction with a HSP90, it translocates to the nucleus. {ECO:0000250 UniProtKB:P30561}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHR gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus TAS,IDA 10395741
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex TAS 19538249
GO:0005737 cytoplasm IDA 15681594
genes like me logo Genes that share ontologies with AHR: view

Pathways & Interactions for AHR Gene

genes like me logo Genes that share pathways with AHR: view

Pathways by source for AHR Gene

1 GeneGo (Thomson Reuters) pathway for AHR Gene
  • Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling
1 R&D Systems pathway for AHR Gene
1 Qiagen pathway for AHR Gene
  • AHR Pathway

SIGNOR curated interactions for AHR Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for AHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001568 blood vessel development NAS 19538249
GO:0006355 regulation of transcription, DNA-templated IDA 10395741
GO:0006357 regulation of transcription by RNA polymerase II IDA 15681594
GO:0006366 transcription by RNA polymerase II IDA 10395741
genes like me logo Genes that share ontologies with AHR: view

Drugs & Compounds for AHR Gene

(77) Drugs for AHR Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leflunomide Approved, Investigational Pharma Target, agonist AHR agonist,immunosuppressive agent 91
Flutamide Approved, Investigational Pharma Target, agonist 68
Mexiletine Approved, Investigational Pharma Target, agonist 21
Nimodipine Approved, Investigational Pharma Activator, Potentiation, Target, agonist Ca2+ channel blocker (L-type) 42
Diosmin Approved, Investigational Pharma Target, agonist 0

(62) Additional Compounds for AHR Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
FICZ
172922-91-7

(5) Tocris Compounds for AHR Gene

Compound Action Cas Number
6,2',4'-Trimethoxyflavone Aryl hydrocarbon receptor antagonist 720675-74-1
CH 223191 Potent aryl hydrocarbon receptor (AhR) antagonist 301326-22-7
FICZ High affinity aryl hydrocarbon receptor (AhR) agonist 172922-91-7
ITE Endogenous agonist for the transcription factor aryl hydrocarbon receptor 448906-42-1
L-Kynurenine Tryptophan catabolite; endogenous aryl hydrocarbon receptor ligand 2922-83-0

(11) ApexBio Compounds for AHR Gene

Compound Action Cas Number
6,2',4'-Trimethoxyflavone 720675-74-1
CH 223191 AhR antagonist 301326-22-7
DiMNF AHR modulator 14756-24-2
ITE AHR agonist 448906-42-1
Leflunomide AHR agonist,immunosuppressive agent 75706-12-6
L-Kynurenine 2922-83-0
MeBIO CDK/Cyclin/ GSK-3/p25/AhR agonist 667463-95-8
Oltipraz An antischistosomal agent 64224-21-1
Phortress Prodrug of antitumor agent 5F 203 328087-38-3
StemRegenin 1 (SR1) AhR antagonist 1227633-49-9
SU5416 VEGF receptor inhibitor and AHR agonist 204005-46-9
genes like me logo Genes that share compounds with AHR: view

Drug Products

Transcripts for AHR Gene

mRNA/cDNA for AHR Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AHR

Alternative Splicing Database (ASD) splice patterns (SP) for AHR Gene

No ASD Table

Relevant External Links for AHR Gene

GeneLoc Exon Structure for
AHR

Expression for AHR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AHR Gene

This gene is overexpressed in Nerve - Tibial (x4.5).

Protein differential expression in normal tissues from HIPED for AHR Gene

This gene is overexpressed in Placenta (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AHR Gene



Protein tissue co-expression partners for AHR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AHR

SOURCE GeneReport for Unigene cluster for AHR Gene:

Hs.171189

mRNA Expression by UniProt/SwissProt for AHR Gene:

P35869-AHR_HUMAN
Tissue specificity: Expressed in all tissues tested including blood, brain, heart, kidney, liver, lung, pancreas and skeletal muscle. Expressed in retinal photoreceptors (PubMed:29726989).

Evidence on tissue expression from TISSUES for AHR Gene

  • Liver(4.7)
  • Intestine(3.4)
  • Spleen(3.2)
  • Lung(3.2)
  • Nervous system(3.2)
  • Lymph node(3.1)
  • Skin(3.1)
  • Bone marrow(3.1)
  • Blood(3)
  • Heart(2.9)
  • Kidney(2.9)
  • Stomach(2.8)
  • Thyroid gland(2.8)
  • Muscle(2.7)
  • Gall bladder(2.5)
  • Adrenal gland(2.5)
  • Pancreas(2.3)
  • Eye(2.1)
  • Urine(2)
genes like me logo Genes that share expression patterns with AHR: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AHR Gene

Orthologs for AHR Gene

This gene was present in the common ancestor of animals.

Orthologs for AHR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AHR 30 31
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AHR 30 31
  • 87.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AHR 30 31
  • 84.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ahr 30 17 31
  • 79.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ahr 30
  • 77.84 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AHR 31
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AHR 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AHR 30 31
  • 71.87 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ahr 30
  • 65.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia AHR 30
Zebrafish
(Danio rerio)
Actinopterygii ahr1b 30
  • 60.47 (n)
ahr1a 31
  • 41 (a)
OneToOne
ahr1 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11494 30
Fruit Fly
(Drosophila melanogaster)
Insecta ss 31 32
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ahr-1 31 32
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12569 30
Species where no ortholog for AHR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for AHR Gene

ENSEMBL:
Gene Tree for AHR (if available)
TreeFam:
Gene Tree for AHR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AHR: view image

Paralogs for AHR Gene

Paralogs for AHR Gene

Pseudogenes.org Pseudogenes for AHR Gene

genes like me logo Genes that share paralogs with AHR: view

Variants for AHR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AHR Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709061 Benign: not provided 17,339,013(+) A/G SYNONYMOUS_VARIANT
724009 Likely Benign: not provided 17,327,755(+) G/A INTRON_VARIANT
724383 Likely Benign: not provided 17,339,223(+) T/A SYNONYMOUS_VARIANT
724384 Likely Benign: not provided 17,339,226(+) T/A SYNONYMOUS_VARIANT
726412 Benign: not provided 17,339,284(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for AHR Gene

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

Variant ID Type Subtype PubMed ID
dgv11225n54 CNV gain 21841781
dgv6289n100 CNV gain 25217958
dgv6290n100 CNV gain 25217958
esv2422294 CNV duplication 17116639
esv2759515 CNV gain+loss 17122850
esv2764001 CNV gain+loss 21179565
esv34717 CNV gain 17911159
esv3612420 CNV loss 21293372
esv3612421 CNV gain 21293372
esv3891076 CNV gain 25118596
esv3891077 CNV gain 25118596
nsv1029065 CNV loss 25217958
nsv1114920 CNV deletion 24896259
nsv464398 CNV gain 19166990
nsv464399 CNV gain 19166990
nsv606343 CNV gain 21841781
nsv8064 CNV gain 18304495

Variation tolerance for AHR Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.78; 73.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AHR Gene

Human Gene Mutation Database (HGMD)
AHR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHR

SNP Genotyping and Copy Number Assay Products

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

Disorders for AHR Gene

MalaCards: The human disease database

(24) MalaCards diseases for AHR Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 85
  • rp85
retinitis pigmentosa
  • retinitis pigmentosa 1
eosinophilia-myalgia syndrome
  • eosinophilia myalgia syndrome
seborrheic dermatitis
  • seborrhea
eosinophilic fasciitis
  • ef
- elite association - COSMIC cancer census association via MalaCards
Search AHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AHR_HUMAN
  • Retinitis pigmentosa 85 (RP85) [MIM:618345]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes. {ECO:0000269 PubMed:29726989}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AHR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with AHR: view

No data available for Genatlas for AHR Gene

Publications for AHR Gene

  1. Polymorphisms of human aryl hydrocarbon receptor (AhR) gene in a French population: relationship with CYP1A1 inducibility and lung cancer. (PMID: 11698344) Cauchi S … Massaad-Massade L (Carcinogenesis 2001) 3 4 23 41
  2. Association of human aryl hydrocarbon receptor gene polymorphisms with risk of lung cancer among cigarette smokers in a Chinese population. (PMID: 18818557) Chen D … Lu D (Pharmacogenetics and genomics 2009) 3 23 41
  3. Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women. (PMID: 19415745) Sangrajrang S … Yoshida T (International journal of cancer 2009) 3 23 41
  4. Associations of common variants in genes involved in metabolism and response to exogenous chemicals with risk of multiple myeloma. (PMID: 19736056) Gold LS … Baris D (Cancer epidemiology 2009) 3 23 41
  5. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PMID: 17559847) Merisalu A … Salumets A (Fertility and sterility 2007) 3 23 41

Products for AHR Gene

  • Addgene plasmids for AHR

Sources for AHR Gene