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 Innate Lymphoid Cell Differentiation Pathways and AHR 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 transcription factor that enables cells to adapt to changing conditions by sensing compounds from the environment, diet, microbiome and cellular metabolism, and which plays important roles in development, immunity and cancer (PubMed:30373764, PubMed:23275542, PubMed:7961644, PubMed:32818467). Upon ligand binding, translocates into the nucleus, where it heterodimerizes with ARNT and induces transcription by binding to xenobiotic response elements (XRE) (PubMed:30373764, PubMed:23275542, PubMed:7961644). Regulates a variety of biological processes, including angiogenesis, hematopoiesis, drug and lipid metabolism, cell motility and immune modulation (PubMed:12213388). Xenobiotics can act as ligands: upon xenobiotic-binding, 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). Next to xenobiotics, natural ligands derived from plants, microbiota, and endogenous metabolism are potent AHR agonists (PubMed:18076143). Tryptophan (Trp) derivatives constitute an important class of endogenous AHR ligands (PubMed:32866000, PubMed:32818467). Acts as a negative regulator of anti-tumor immunity: indoles and kynurenic acid generated by Trp catabolism act as ligand and activate AHR, thereby promoting AHR-driven cancer cell motility and suppressing adaptive immunity (PubMed:32818467). 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 (PubMed:28602820). 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 250 +384.0 384031 6.7 ZNF654 ZNF600 ATF2 POLR2A ZNF223 CHD4 ZBTB10 YY1 ZNF592 TRIM22 ENSG00000237773 ENSG00000283321 HSALNG0056385-001 LOC101927609 AHR LINC02889 HSALNG0056391 HSALNG0056385-002 SNX13
GH07J016913 Promoter/Enhancer 1.4 Ensembl ENCODE 250.7 -0.5 -465 5.3 ZNF654 JUND CEBPA CTCF REST HOMEZ ZNF217 THAP11 FOXA2 CTBP1 AHR lnc-TSPAN13-3 AGR3 AGR2 TSPAN13 HSALNG0056374 HSALNG0056375
GH07J017339 Promoter/Enhancer 0.6 EPDnew dbSUPER 250 +423.6 423614 0.1 POLR2A HSALNG0056394 lnc-AHR-4 MK280607-077 AHR LINC02888 ENSG00000199473 ENSG00000283321 SNX13
GH07J017340 Promoter/Enhancer 0.5 EPDnew dbSUPER 250 +423.9 423852 0.1 HSALNG0056394 lnc-AHR-4 AHR LINC02888 ENSG00000199473 ENSG00000283321 SNX13
GH07J017343 Promoter 0.3 EPDnew 259.7 +426.9 426920 0.1 AHR lnc-AHR-4 LINC02888 ENSG00000199473 ENSG00000237773 HSALNG0056394 HSALNG0056397 ENSG00000283321 lnc-SNX13-5 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

Latest Assembly
chr7:16,916,359-17,346,152
(GRCh38/hg38)
Size:
429,794 bases
Orientation:
Plus strand

Previous Assembly
chr7:17,338,276-17,385,771
(GRCh37/hg19 by Entrez Gene)
Size:
47,496 bases
Orientation:
Plus strand

chr7:17,338,246-17,385,776
(GRCh37/hg19 by Ensembl)
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). Heterodimer; efficient DNA binding requires dimerization with another bHLH protein (PubMed:10395741, PubMed:28602820). 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). Binds MYBBP1A (By similarity). Interacts with coactivators including SRC-1, RIP140 and NOCA7, and with the corepressor SMRT (PubMed:10395741). Interacts with NEDD8 and IVNS1ABP (PubMed:12215427, PubMed:16582008). Interacts with ARNTL/BMAL1 (By similarity). Interacts with HSP90AB1 (By similarity). 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

Antibodies for research

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

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 transcription factor that enables cells to adapt to changing conditions by sensing compounds from the environment, diet, microbiome and cellular metabolism, and which plays important roles in development, immunity and cancer (PubMed:30373764, PubMed:23275542, PubMed:7961644, PubMed:32818467). Upon ligand binding, translocates into the nucleus, where it heterodimerizes with ARNT and induces transcription by binding to xenobiotic response elements (XRE) (PubMed:30373764, PubMed:23275542, PubMed:7961644). Regulates a variety of biological processes, including angiogenesis, hematopoiesis, drug and lipid metabolism, cell motility and immune modulation (PubMed:12213388). Xenobiotics can act as ligands: upon xenobiotic-binding, 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). Next to xenobiotics, natural ligands derived from plants, microbiota, and endogenous metabolism are potent AHR agonists (PubMed:18076143). Tryptophan (Trp) derivatives constitute an important class of endogenous AHR ligands (PubMed:32866000, PubMed:32818467). Acts as a negative regulator of anti-tumor immunity: indoles and kynurenic acid generated by Trp catabolism act as ligand and activate AHR, thereby promoting AHR-driven cancer cell motility and suppressing adaptive immunity (PubMed:32818467). 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 (PubMed:28602820). 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<tm1Gonz>
  • Ahr Ahr<tm1Bra>
  • Ahr Ahr<tm1.2Arte>

miRNA for AHR Gene

miRTarBase miRNAs that target AHR

Transcription Factor Targets for AHR Gene

Selected GeneGlobe predicted Target genes for AHR

Inhibitory RNAs for research

  • 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
cytoskeleton 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:0000785 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: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:0006805 xenobiotic metabolic process TAS 19538249
GO:0006915 apoptotic process TAS 12213388
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 99
Flutamide Approved, Investigational Pharma Target, agonist 70
Mexiletine Approved, Investigational Pharma Target, agonist 25
Nimodipine Approved, Investigational Pharma Target, agonist Ca2+ channel blocker (L-type) 44
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 for research

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 :

Inhibitory RNAs for research

  • 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(4.4)
genes like me logo Genes that share expression patterns with AHR: view

Primer products for research

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 29 30
  • 98.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AHR 29 30
  • 87.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AHR 29 30
  • 84.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ahr 29 16 30
  • 79.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ahr 29
  • 77.84 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AHR 30
  • 62 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AHR 30
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AHR 29 30
  • 71.87 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ahr 29
  • 65.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia AHR 29
Zebrafish
(Danio rerio)
Actinopterygii ahr1b 29
  • 60.47 (n)
ahr1a 30
  • 41 (a)
OneToOne
ahr1 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11494 29
Fruit Fly
(Drosophila melanogaster)
Insecta ss 30 31
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ahr-1 30 31
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12569 29
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
Alliance of Genome Resources:
Additional Orthologs for AHR

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
1002056 Uncertain Significance: not provided 17,335,696(+) A/C
NM_001621.5(AHR):c.1070A>C (p.Asn357Thr)
MISSENSE
1004508 Uncertain Significance: not provided 17,340,197(+) T/G
NM_001621.5(AHR):c.2372T>G (p.Val791Gly)
MISSENSE
1004660 Uncertain Significance: not provided 17,342,945(+) A/G
NM_001621.5(AHR):c.2428A>G (p.Thr810Ala)
MISSENSE
1004766 Uncertain Significance: not provided 17,339,997(+) TGAA/T
NM_001621.5(AHR):c.2173_2175del (p.Glu725del)
INFRAME_DELETION
1004831 Uncertain Significance: not provided 17,334,035(+) A/G
NM_001621.5(AHR):c.829A>G (p.Ile277Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AHR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
AHR

SNP Genotyping and Copy Number Assays for research

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

Disorders for AHR Gene

MalaCards: The human disease database

(8) MalaCards diseases for AHR Gene - From: OMI, CVR, GTR, ORP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for AHR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 22 40
  2. A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. (PMID: 29726989) Zhou Y … Yang Z (Human molecular genetics 2018) 3 4 72
  3. 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 22 40
  4. 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 22 40
  5. 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 22 40

Products for AHR Gene

  • Addgene plasmids for AHR

Sources for AHR Gene