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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
107
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Foveal hypoplasia 3 Likely pathogenic; Pathogenic rs1562482694 RCV004731033
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile nystagmus with foveal hypoplasia Likely pathogenic; Pathogenic rs1562482694 RCV000786023
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 85 Pathogenic rs1562481438 RCV000758221
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AHR-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 24521362, 25019383, 26963951, 30488289
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 33281746 Associate
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 30144817
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 31606043
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16410262, 28555259
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 21226706
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 22754483, 30158248
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 21262915
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 31519687
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17127240, 22273977, 24023334
★☆☆☆☆
Found in Text Mining only