• Gene id: 1544

Gene Summary

• Gene Symbol: CYP1A2   Gene   UCSC   Ensembl
• Aliases: CP12, CYPIA2, P3-450, P450(PA)
• Gene name: cytochrome P450 family 1 subfamily A member 2
• Alternate names: cytochrome P450 1A2, P450 form 4, aryl hydrocarbon hydroxylase, cholesterol 25-hydroxylase, cytochrome P(3)450, cytochrome P450 4, cytochrome P450, family 1, subfamily A, polypeptide 2, cytochrome P450, subfamily I (aromatic compound-inducible), polypepti,
• Gene location: 15q24.1 (74748842: 74756599)     Exons: 7     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encode
• OMIM: 124060

SNPs

rs2472304

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

NC_000015.10   g.74751897G>A
NC_000015.9   g.75044238G>A
NG_008431.2   g.34356G>A
NG_061543.1   g.8053G>A|SEQ=[G/A]|GENE=CYP1A2

Protein Summary

• Protein general information: P05177  
  • Name: Cytochrome P450 1A2 (EC 1.14.14.1) (CYPIA2) (Cholesterol 25 hydroxylase) (Cytochrome P(3)450) (Cytochrome P450 4) (Cytochrome P450 P3)
  • Length: 515  
  • Mass: 58,294
• Sequence:

  MALSQSVPFSATELLLASAIFCLVFWVLKGLRPRVPKGLKSPPEPWGWPLLGHVLTLGKNPHLALSRMSQRYGDV
  LQIRIGSTPVLVLSRLDTIRQALVRQGDDFKGRPDLYTSTLITDGQSLTFSTDSGPVWAARRRLAQNALNTFSIA
  SDPASSSSCYLEEHVSKEAKALISRLQELMAGPGHFDPYNQVVVSVANVIGAMCFGQHFPESSDEMLSLVKNTHE
  FVETASSGNPLDFFPILRYLPNPALQRFKAFNQRFLWFLQKTVQEHYQDFDKNSVRDITGALFKHSKKGPRASGN
  LIPQEKIVNLVNDIFGAGFDTVTTAISWSLMYLVTKPEIQRKIQKELDTVIGRERRPRLSDRPQLPYLEAFILET
  FRHSSFLPFTIPHSTTRDTTLNGFYIPKKCCVFVNQWQVNHDPELWEDPSEFRPERFLTADGTAINKPLSEKMML
  FGMGKRRCIGEVLAKWEIFLFLAILLQQLEFSVPPGVKVDLTPIYGLTMKHARCEHVQARRFSIN

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008066  IPR036396  
  • Prosite: PS00086
  • PDB: 2HI4
  • PDBsum: 2HI4
  • STRING: ENSP00000342007
• Other Databases: GeneCards:  CYP1A2  Malacards:  CYP1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006706	steroid catabolic process	IMP	biological process
GO:0006778	porphyrin-containing compound metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0009055	electron carrier activity	TAS	molecular function
GO:0009403	toxin biosynthetic process	IDA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009820	alkaloid metabolic process	IDA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0016098	monoterpenoid metabolic process	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IMP	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0032259	methylation	TAS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032451	demethylase activity	IDA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032787	monocarboxylic acid metabolic process	IDA	biological process
GO:0034875	caffeine oxidase activity	IDA	molecular function
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042737	drug catabolic process	IMP	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0045333	cellular respiration	IEA	biological process
GO:0046483	heterocycle metabolic process	IDA	biological process
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0070989	oxidative demethylation	IDA	biological process
GO:0071276	cellular response to cadmium ion	IEA	biological process
GO:0071615	oxidative deethylation	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006706	steroid catabolic process	IMP	biological process
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0006778	porphyrin-containing compound metabolic process	IEA	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0009055	electron carrier activity	TAS	molecular function
GO:0009403	toxin biosynthetic process	IDA	biological process
GO:0009404	toxin metabolic process	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009820	alkaloid metabolic process	IDA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016098	monoterpenoid metabolic process	IDA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IMP	molecular function
GO:0017144	drug metabolic process	IEA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0032259	methylation	TAS	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032451	demethylase activity	IDA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032787	monocarboxylic acid metabolic process	IDA	biological process
GO:0034875	caffeine oxidase activity	IDA	molecular function
GO:0035902	response to immobilization stress	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042737	drug catabolic process	IMP	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0045333	cellular respiration	IEA	biological process
GO:0046483	heterocycle metabolic process	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070330	aromatase activity	IEA	molecular function
GO:0070989	oxidative demethylation	IDA	biological process
GO:0071276	cellular response to cadmium ion	IEA	biological process
GO:0071615	oxidative deethylation	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	IDA	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0004497	monooxygenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006706	steroid catabolic process	IMP	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0009055	electron carrier activity	TAS	molecular function
GO:0009403	toxin biosynthetic process	IDA	biological process
GO:0009820	alkaloid metabolic process	IDA	biological process
GO:0016098	monoterpenoid metabolic process	IDA	biological process
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IMP	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:0019373	epoxygenase P450 pathway	TAS	biological process
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0032259	methylation	TAS	biological process
GO:0032451	demethylase activity	IDA	molecular function
GO:0032787	monocarboxylic acid metabolic process	IDA	biological process
GO:0034875	caffeine oxidase activity	IDA	molecular function
GO:0042737	drug catabolic process	IMP	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0046483	heterocycle metabolic process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0070989	oxidative demethylation	IDA	biological process
GO:0071615	oxidative deethylation	IDA	biological process
GO:0097267	omega-hydroxylase P450 pathway	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05204	Chemical carcinogenesis

Diseases

Associated diseases	References
Brill-Symmers disease	GAD: 20029944
Cancer (Adenoma)	GAD: 18751408
Cancer (bladder)	GAD: 12663508
Cancer (breast)	GAD: 16103451
Cancer (cholangiocarcinoma)	GAD: 15901993
Cancer (colon)	GAD: 18268115
Cancer (colorectal)	GAD: 16006997
Cancer (endometrial)	GAD: 15734958
Cancer (esophageal)	GAD: 19339270
Cancer (Hepatocellular)	GAD: 19643819
Cancer (liver)	GAD: 16048566
Cancer (lung)	GAD: 15890241
Cancer (lymphoma)	GAD: 19338043
Cancer (ovarian)	GAD: 12925300
Cancer (Pancreatic ductal)	GAD: 18499698
Cancer (pancreatic)	GAD: 16307269
Cancer (prostate)	GAD: 11507974
Cancer (Renal cell)	GAD: 20389299
Cancer (Squamous cell)	GAD: 19442564
Cancer (stomach)	GAD: 17164366
Cancer (testicular)	GAD: 16172230
Myocardial Infarction	GAD: 15466009
Cardiovascular disease	GAD: 15466009
Hypertension	GAD: 19451835
Venous thromboembolism	GAD: 18628519
Neural tube defects	GAD: 20641098
Cleft defects	GAD: 20634891
Macular degeneration	GAD: 15774926
Arthritis	GAD: 19605743
Asthma	GAD: 12732846
Porphyria	GAD: 14714565
Hypercholesterolemia	GAD: 20602615
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Tardive dyskinesia	GAD: 12790158
Amyotrophic lateral sclerosis (ALS)	GAD: 17852022
Epilepsy	GAD: 20602612
Parkinson disease	GAD: 18759349
Mental disorder	GAD: 19860743
Depression	GAD: 19593158
Schizophrenia	GAD: 15505641
Psychological disorders	GAD: 19593158
Chronic renal failure	GAD: 21085059
Recurrent pregnancy loss (RPL)	GAD: 15299091
Endometriosis	INFBASE: 10764452
Male factor infertility	MIK: 22648180
Cryptorchidism	MIK: 22648180
Hypospadias	MIK: 22648180
Fetal loss	GAD: 16782969
Chronic obstructive pulmonary disease (COPD)	GAD: 18389617
Polydipsia	GAD: 16775389
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22648180

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq