• Gene id: 1548

Gene Summary

• Gene Symbol: CYP2A6   Gene   UCSC   Ensembl
• Aliases: CPA6, CYP2A, CYP2A3, CYPIIA6, P450C2A, P450PB
• Gene name: cytochrome P450 family 2 subfamily A member 6
• Alternate names: cytochrome P450 2A6, 1,4-cineole 2-exo-monooxygenase, coumarin 7-hydroxylase, cytochrome P450 IIA3, cytochrome P450(I), cytochrome P450, family 2, subfamily A, polypeptide 6, cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6, flavoprotein-l,
• Gene location: 19q13.2 (40850446: 40843540)     Exons: 9     NC_000019.10
• Gene summary(Entrez): This gene, CYP2A6, 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. This prot
• OMIM: 122720

Protein Summary

• Protein general information: P11509  
  • Name: Cytochrome P450 2A6 (EC 1.14.13. ) (1,4 cineole 2 exo monooxygenase) (CYPIIA6) (Coumarin 7 hydroxylase) (Cytochrome P450 IIA3) (Cytochrome P450(I))
  • Length: 494  
  • Mass: 56517
  • Tissue specificity: Liver. {ECO
• Sequence:

  MLASGMLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIGNYLQLNTEQMYNSLMKISERYGPVFTIHLGP
  RRVVVLCGHDAVREALVDQAEEFSGRGEQATFDWVFKGYGVVFSNGERAKQLRRFSIATLRDFGVGKRGIEERIQ
  EEAGFLIDALRGTGGANIDPTFFLSRTVSNVISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQLYEMFSS
  VMKHLPGPQQQAFQLLQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKNPNTEFYLKNLVMTTLNLFI
  GGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQPKFEDRAKMPYMEAVIHEIQRFGDVIPMSLARRVK
  KDTKFRDFFLPKGTEVYPMLGSVLRDPSFFSNPQDFNPQHFLNEKGQFKKSDAFVPFSIGKRNCFGEGLARMELF
  LFFTTVMQNFRLKSSQSPKDIDVSPKHVGFATIPRNYTMSFLPR

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR008067  IPR036396  
  • Prosite: PS00086
  • PDB: 1Z10 1Z11 2FDU 2FDV 2FDW 2FDY 3EBS 3T3Q 3T3R 4EJJ 4RUI
  • PDBsum: 1Z10 1Z11 2FDU 2FDV 2FDW 2FDY 3EBS 3T3Q 3T3R 4EJJ 4RUI
  • STRING: ENSP00000301141
• Other Databases: GeneCards:  CYP2A6  Malacards:  CYP2A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008395	steroid hydroxylase activity	IBA	molecular function
GO:0009804	coumarin metabolic process	IBA	biological process
GO:0019373	epoxygenase P450 pathway	IBA	biological process
GO:0042738	exogenous drug catabolic process	IBA	biological process
GO:0006082	organic acid metabolic process	IBA	biological process
GO:0006805	xenobiotic metabolic process	IBA	biological process
GO:0008392	arachidonic acid epoxygenase activity	IBA	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	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0008389	coumarin 7-hydroxylase activity	IDA	molecular function
GO:0005881	cytoplasmic microtubule	IDA	cellular component
GO:0005506	iron ion binding	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:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0009804	coumarin metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008389	coumarin 7-hydroxylase activity	IDA	molecular function
GO:0008389	coumarin 7-hydroxylase activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IMP	biological process
GO:0009804	coumarin metabolic process	IDA	biological process
GO:0042738	exogenous drug catabolic process	IDA	biological process
GO:0046226	coumarin catabolic process	IDA	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00982	Drug metabolism - cytochrome P450
hsa00830	Retinol metabolism
hsa00232	Caffeine metabolism

Diseases

Associated diseases	References
Coumarin resistance	KEGG:H01205
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq