• Gene id: 196

Gene Summary

• Gene Symbol: AHR   Gene   UCSC   Ensembl
• Aliases: bHLHe76
• Gene name: aryl hydrocarbon receptor
• Alternate names: aryl hydrocarbon receptor, AH-receptor, ah receptor, aromatic hydrocarbon receptor, class E basic helix-loop-helix protein 76,
• Gene location: 7p21.1 (17298651: 17346150)     Exons: 11     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 600253

SNPs

rs7811989

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17331739A>C
NC_000007.14   g.17331739A>G
NC_000007.14   g.17331739A>T
NC_000007.13   g.17371363A>C
NC_000007.13   g.17371363A>G
NC_000007.13   g.17371363A>T|SEQ=[A/C/G/T]|GENE=AHR

rs7558708

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291739G>A
NC_000002.11   g.73518867G>A
NM_001965.4   c.1179C>T
NM_001965.3   c.1488C>T|SEQ=[G/A]|GENE=EGR4

rs6960165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17328461G>A
NC_000007.14   g.17328461G>C
NC_000007.14   g.17328461G>T
NC_000007.13   g.17368085G>A
NC_000007.13   g.17368085G>C
NC_000007.13   g.17368085G>T|SEQ=[G/A/C/T]|GENE=AHR

rs2282885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17305990A>G
NC_000007.13   g.17345614A>G|SEQ=[A/G]|GENE=AHR

rs2229294

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291405G>A
NC_000002.11   g.73518533G>A
NM_001965.4   c.*52C>T
NM_001965.3   c.*52C>T|SEQ=[G/A]|GENE=EGR4

rs2066853

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17339486G>A
NC_000007.13   g.17379110G>A
NM_001621.5   c.1661G>A
NM_001621.4   c.1661G>A
NP_001612.1   p.Arg554Lys|SEQ=[G/A]|GENE=AHR

rs16937456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.71165720A>G
NC_000008.11   g.71165720A>T
NC_000008.10   g.72077955A>G
NC_000008.10   g.72077955A>T|SEQ=[A/G/T]|GENE=LOC105375894

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs1476080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17318249T>A
NC_000007.14   g.17318249T>G
NC_000007.13   g.17357873T>A
NC_000007.13   g.17357873T>G|SEQ=[T/A/G]|GENE=AHR

rs771189047

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000002.12   g.73293568dup
NC_000002.11   g.73520696dup|SEQ=[-/C]|GENE=EGR4

rs561568849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73293413G>A
NC_000002.12   g.73293413G>T
NC_000002.11   g.73520541G>A
NC_000002.11   g.73520541G>T
NM_001965.4   c.-96C>T
NM_001965.4   c.-96C>A
NM_001965.3   c.214C>T
NM_001965.3   c.214C>A|SEQ=[G/A/T]|GENE=EGR4

rs763487015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73293391G>A
NC_000002.11   g.73520519G>A
NM_001965.4   c.-74C>T
NM_001965.3   c.236C>T|SEQ=[G/A]|GENE=EGR4

rs546250227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291933C>A
NC_000002.11   g.73519061C>A
NM_001965.4   c.985G>T
NM_001965.3   c.1294G>T
NP_001956.4   p.Val329Leu|SEQ=[C/A]|GENE=EGR4

rs115948271

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73292360G>C
NC_000002.11   g.73519488G>C
NM_001965.4   c.558C>G
NM_001965.3   c.867C>G|SEQ=[G/C]|GENE=EGR4

rs528939702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.73291997C>T
NC_000002.11   g.73519125C>T
NM_001965.4   c.921G>A
NM_001965.3   c.1230G>A|SEQ=[C/T]|GENE=EGR4

Protein Summary

• Protein general information: P35869  
  • Name: Aryl hydrocarbon receptor (Ah receptor) (AhR) (Class E basic helix loop helix protein 76) (bHLHe76)
  • Length: 848  
  • Mass: 96,147
  • Tissue specificity: Placenta, liver, and to a much smaller extent, in lung.
• Sequence:

  MNSSSANITYASRKRRKPVQKTVKPIPAEGIKSNPSKRHRDRLNTELDRLASLLPFPQDVINKLDKLSVLRLSVS
  YLRAKSFFDVALKSSPTERNGGQDNCRAANFREGLNLQEGEFLLQALNGFVLVVTTDALVFYASSTIQDYLGFQQ
  SDVIHQSVYELIHTEDRAEFQRQLHWALNPSQCTESGQGIEEATGLPQTVVCYNPDQIPPENSPLMERCFICRLR
  CLLDNSSGFLAMNFQGKLKYLHGQKKKGKDGSILPPQLALFAIATPLQPPSILEIRTKNFIFRTKHKLDFTPIGC
  DAKGRIVLGYTEAELCTRGSGYQFIHAADMLYCAESHIRMIKTGESGMIVFRLLTKNNRWTWVQSNARLLYKNGR
  PDYIIVTQRPLTDEEGTEHLRKRNTKLPFMFTTGEAVLYEATNPFPAIMDPLPLRTKNGTSGKDSATTSTLSKDS
  LNPSSLLAAMMQQDESIYLYPASSTSSTAPFENNFFNESMNECRNWQDNTAPMGNDTILKHEQIDQPQDVNSFAG
  GHPGLFQDSKNSDLYSIMKNLGIDFEDIRHMQNEKFFRNDFSGEVDFRDIDLTDEILTYVQDSLSKSPFIPSDYQ
  QQQSLALNSSCMVQEHLHLEQQQQHHQKQVVVEPQQQLCQKMKHMQVNGMFENWNSNQFVPFNCPQQDPQQYNVF
  TDLHGISQEFPYKSEMDSMPYTQNFISCNQPVLPQHSKCTELDYPMGSFEPSPYPTTSSLEDFVTCLQLPENQKH
  GLNPQSAIITPQTCYAGAVSMYQCQPEPQHTHVGQMQYNPVLPGQQAFLNKFQNGVLNETYPAELNNINNTQTTT
  HLQPLHHPSEARPFPDLTSSGFL

• Structural information:
  • Protein Domains: bHLH. (27-80)
    PAS (111-181)
    PAS (275-342)
    PAC. (348-386)
  • Interpro: IPR033348  IPR011598  IPR036638  IPR001610  IPR000014   IPR035965  IPR013767  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 5NJ8
  • PDBsum: 5NJ8
  • DIP: 946
  • STRING: ENSP00000242057
• Other Databases: GeneCards:  AHR  Malacards:  AHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001568	blood vessel development	NAS	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0009410	response to xenobiotic stimulus	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030888	regulation of B cell proliferation	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0034752	cytosolic aryl hydrocarbon receptor complex	TAS	cellular component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular component
GO:0035326	enhancer binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046983	protein dimerization activity	TAS	molecular function
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0071385	cellular response to glucocorticoid stimulus	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001568	blood vessel development	NAS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	molecular function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular function
GO:0004874	aryl hydrocarbon receptor activity	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0009410	response to xenobiotic stimulus	IEA	biological process
GO:0009410	response to xenobiotic stimulus	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030888	regulation of B cell proliferation	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0034751	aryl hydrocarbon receptor complex	IEA	cellular component
GO:0034752	cytosolic aryl hydrocarbon receptor complex	TAS	cellular component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular component
GO:0035326	enhancer binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0046983	protein dimerization activity	TAS	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0071385	cellular response to glucocorticoid stimulus	IEA	biological process
GO:0001568	blood vessel development	NAS	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	NAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0008134	transcription factor binding	IPI	molecular function
GO:0009410	response to xenobiotic stimulus	IDA	biological process
GO:0009636	response to toxic substance	IDA	biological process
GO:0010468	regulation of gene expression	IDA	biological process
GO:0030888	regulation of B cell proliferation	IDA	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0034752	cytosolic aryl hydrocarbon receptor complex	TAS	cellular component
GO:0034753	nuclear aryl hydrocarbon receptor complex	IBA	cellular component
GO:0035326	enhancer binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046982	protein heterodimerization activity	TAS	molecular function
GO:0046983	protein dimerization activity	TAS	molecular function
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0070888	E-box binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04659	Th17 cell differentiation
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer	GAD: 16103451
Cancer (bladder)	GAD: 11866883
Cancer (lymphoma)	GAD: 19821039
Cancer (myeloma)	GAD: 19736056
Cancer (colorectal)	GAD: 18510611
Cancer (esophageal)	GAD: 20453000
Cancer (laryngeal)	GAD: 20301892
Cancer (lung)	GAD: 11698344
Cancer (breast)	GAD: 16103451
Myocardial Infarction	GAD: 17053541
Cleft defects	GAD: 20634891
Macular degeneration	GAD: 15774926
Alzheimer's disease	GAD: 19141999
Dementia	GAD: 12852830
Psychological disorders	GAD: 12852830
Chronic renal failure	GAD: 21085059
Azoospermia	GAD: 15474075
Azoospermia	GAD: 17559847
Oligozoospermia	GAD: 15474075
Endometriosis	GAD: 11393538
Micropenis	GAD: 15758562
Hypospadias	MIK: 22648180
Cryptorchidism	MIK: 22648180
Male factor infertility	MIK: 22648180
Male factor infertility	MIK: 21689841
Female infertility	INFBASE: 11393538
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22648180
Male factor infertility	MIK: 23703535
Oligoasthenoteratozoospermia	MIK: 28161861
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21689841	Male infertility		Iran	39 (29 unexplained infertile and 10 fertile males)	Male infertility	ER AR PgR and MMP9
21689841	Male infertility			39 (29 unexplained infertile, 10 fertile males)	Male infertility	ER  AR PgR and MMP9
21689841	Idiopathic male infertility		Iranian	39 (29 unexplained infertile, 10 fertile males)	Male infertility	ER AR PgR and MMP9
22648180	Cryptorchidism, hypospadias	ARNT2 (rs2278705 and rs5000770), CYP1A2 (rs2069521), CYP17A1 (rs4919686), NR1I2 (rs2472680), AHR (rs3757824) and ARNT2 (rs1020397)	Japanes e, Ital ian	521 (334 Japanese (JPN) males (141 controls, 95 CO and 98 HS), 187 Italian (ITA) males (129 controls and 58 CO))	Male infertility	AHR AHRR ARNT ARNT2 NR1I2 RXRA RXRB RXRG CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP3A4 CYP17A1 andCYP19A1
23703535	Idiopathic male factor infertility	rs2066853, rs1476080, rs10250822, rs10247158, rs2282885, rs6960165, and rs7811989		528 (176 men with idiopathic infertility, 352 healthy fertile men who served as controls)	Male infertility
21613234	Male infertility		Chinese	1160 (580 idiopathic infertile subjects, 580 fertile controls)	Male infertility
28712079	Idiopathic male infertility	c.-742C>T, c.1661G>A		265 (135 idiopathic infertile men, 130 healthy controls)	Male infertility
28161861	Oligoasthenoteratozoospermia, Male infertility	rs2066853	Egyptia n	170 (50 normozoospermia, 120 oligoasthenoteratozoospermia (OAT))	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray