Gene Gene information from NCBI Gene database.
Entrez ID 196
Gene name Aryl hydrocarbon receptor
Gene symbol AHR
Synonyms (NCBI Gene)
FVH3RP85bHLHe76
Chromosome 7
Chromosome location 7p21.1
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1562481438 G>A Pathogenic Splice donor variant
rs1562482694 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
717
miRTarBase ID miRNA Experiments Reference
MIRT002653 hsa-miR-124-3p Microarray 15685193
MIRT002653 hsa-miR-124-3p Luciferase reporter assayWestern blot 22024478
MIRT002653 hsa-miR-124-3p Luciferase reporter assayWestern blot 22024478
MIRT002653 hsa-miR-124-3p Luciferase reporter assayWestern blot 22024478
MIRT002653 hsa-miR-124-3p Luciferase reporter assayWestern blot 22024478
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
AIP Activation 11469723
ARNT Unknown 18540824
ESR1 Unknown 10620335
ESRRA Unknown 10620335
SMAD2 Unknown 11259615
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding IDA 15681594
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IDA 23275542
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600253 348 ENSG00000106546
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35869
Protein name Aryl hydrocarbon receptor (Ah receptor) (AhR) (Class E basic helix-loop-helix protein 76) (bHLHe76)
Protein 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 (Pu
PDB 5NJ8 , 7ZUB , 8QMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 35 80 Helix-loop-helix DNA-binding domain Domain
PF00989 PAS 113 227 PAS fold Domain
PF08447 PAS_3 297 383 PAS fold Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested including blood, brain, heart, kidney, liver, lung, pancreas and skeletal muscle. Expressed in retinal photoreceptors (PubMed:29726989). {ECO:0000269|PubMed:29726989, ECO:0000269|PubMed:7515333, ECO:0000
Sequence
MNSSSANITYASRKRRKPVQKTVKPIPAEGIKSNPSKRHRDRLNTELDRLASLLPFPQDV
INKLDKLSVLRLSVSYLRAK
SFFDVALKSSPTERNGGQDNCRAANFREGLNLQEGEFLLQ
ALNGFVLVVTTDALVFYASSTIQDYLGFQQSDVIHQSVYELIHTEDRAEFQRQLHWALNP
SQCTESGQGIEEATGLPQTVVCYNPDQIPPENSPLMERCFICRLRCL
LDNSSGFLAMNFQ
GKLKYLHGQKKKGKDGSILPPQLALFAIATPLQPPSILEIRTKNFIFRTKHKLDFTPIGC
DAKGRIVLGYTEAELCTRGSGYQFIHAADMLYCAESHIRMIKTGESGMIVFRLLTKNNRW
TWVQSNARLLYKNGRPDYIIVTQ
RPLTDEEGTEHLRKRNTKLPFMFTTGEAVLYEATNPF
PAIMDPLPLRTKNGTSGKDSATTSTLSKDSLNPSSLLAAMMQQDESIYLYPASSTSSTAP
FENNFFNESMNECRNWQDNTAPMGNDTILKHEQIDQPQDVNSFAGGHPGLFQDSKNSDLY
SIMKNLGIDFEDIRHMQNEKFFRNDFSGEVDFRDIDLTDEILTYVQDSLSKSPFIPSDYQ
QQQSLALNSSCMVQEHLHLEQQQQHHQKQVVVEPQQQLCQKMKHMQVNGMFENWNSNQFV
PFNCPQQDPQQYNVFTDLHGISQEFPYKSEMDSMPYTQNFISCNQPVLPQHSKCTELDYP
MGSFEPSPYPTTSSLEDFVTCLQLPENQKHGLNPQSAIITPQTCYAGAVSMYQCQPEPQH
THVGQMQYNPVLPGQQAFLNKFQNGVLNETYPAELNNINNTQTTTHLQPLHHPSEARPFP
DLTSSGFL
Sequence length 848
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Th17 cell differentiation
Cushing syndrome
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
  PPARA activates gene expression
Phase I - Functionalization of compounds
Endogenous sterols
Xenobiotics
Aryl hydrocarbon receptor signalling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Foveal hypoplasia 3 Likely pathogenic; Pathogenic rs1562482694 RCV004731033
Infantile nystagmus with foveal hypoplasia Likely pathogenic; Pathogenic rs1562482694 RCV000786023
Retinitis pigmentosa 85 Pathogenic rs1562481438 RCV000758221
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs72552769 RCV005912752
AHR-related disorder Likely benign; Benign rs151173074, rs113673253, rs72552769, rs146989897, rs72552768, rs17779352, rs61755968, rs140788225, rs141518984, rs4986826, rs201246266, rs75519181 RCV003963286
RCV003930930
RCV003930923
RCV003908677
RCV003938893
RCV003966091
RCV003940889
RCV003958521
RCV003936554
RCV003916057
RCV003950682
RCV003922957
Clear cell carcinoma of kidney Likely benign rs72552769 RCV005912754
Familial cancer of breast Likely benign rs72552769 RCV005912751
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 33281746
Adenocarcinoma of Lung Associate 23855798, 30473538, 35203356
Adenomatous Polyposis Coli Associate 35537038
Alopecia Associate 29186269
Alzheimer Disease Associate 12852830
Androgen Insensitivity Syndrome Associate 28782227
Angina Unstable Associate 25620626
Angiofibroma Associate 22337624
Arthritis Juvenile Associate 28935693
Arthritis Rheumatoid Associate 23036591, 23349129, 24309559, 26838552, 28403070, 28535889, 30418118, 32245307, 34302046, 34944003, 35309329, 35943876