Endometriosis Knowledgebase

Search Result

Gene id

1548

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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: 40843537) 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 protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]

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: 56,501

Tissue specificity: Liver. {ECO

Sequence

MLASGMLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIGNYLQLNTEQMYNSLMKISERYGPVFTIHLGP
RRVVVLCGHDAVREALVDQAEEFSGRGEQATFDWVFKGYGVVFSNGERAKQLRRFSIATLRDFGVGKRGIEERIQ
EEAGFLIDALRGTGGANIDPTFFLSRTVSNVISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQLYEMFSS
VMKHLPGPQQQAFQLLQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKNPNTEFYLKNLVMTTLNLFI
GGTETVSTTLRYGFLLLMKHPEVEAKVHEEIDRVIGKNRQPKFEDRAKMPYMEAVIHEIQRFGDVIPMSLARRVK
KDTKFRDFFLPKGTEVFPMLGSVLRDPSFFSNPQDFNPQHFLNEKGQFKKSDAFVPFSIGKRNCFGEGLARMELF
LFFTTVMQNFRLKSSQSPKDIDVSPKHVGFATIPRNYTMSFLPR

Structural information

Interpro:	IPR001128 IPR017972 IPR002401 IPR008067
Prosite:	PS00086
Pfam:	PF00067
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:0005506	iron ion binding	IEA	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005881	cytoplasmic microtubule	IDA	cellular_component
GO:0008202	steroid metabolic process	IMP	biological_process
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	TAS	molecular_function
GO:0008392	arachidonic acid epoxygen ase activity	IBA	molecular_function
GO:0008395	steroid hydroxylase activ ity	IBA	molecular_function
GO:0009804	coumarin metabolic proces s	IDA	biological_process
GO:0009804	coumarin metabolic proces s	TAS	biological_process
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IEA	molecular_function
GO:0017144	drug metabolic process	IMP	biological_process
GO:0017144	drug metabolic process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	IBA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0042738	exogenous drug catabolic process	IDA	biological_process
GO:0046226	coumarin catabolic proces s	IDA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0004497	monooxygenase activity	IEA	molecular_function
GO:0005506	iron ion binding	IEA	molecular_function
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005881	cytoplasmic microtubule	IDA	cellular_component
GO:0008202	steroid metabolic process	IMP	biological_process
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	TAS	molecular_function
GO:0008392	arachidonic acid epoxygen ase activity	IBA	molecular_function
GO:0008395	steroid hydroxylase activ ity	IBA	molecular_function
GO:0009804	coumarin metabolic proces s	IDA	biological_process
GO:0009804	coumarin metabolic proces s	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016491	oxidoreductase activity	IEA	molecular_function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n	IEA	molecular_function
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or red uction of molecular oxyge n, reduced flavin or flav oprotein as one donor, an d incorporation of one at om of oxygen	IEA	molecular_function
GO:0017144	drug metabolic process	IMP	biological_process
GO:0017144	drug metabolic process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	IBA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0020037	heme binding	IEA	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0031090	organelle membrane	IEA	cellular_component
GO:0042738	exogenous drug catabolic process	IDA	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0046226	coumarin catabolic proces s	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005881	cytoplasmic microtubule	IDA	cellular_component
GO:0008202	steroid metabolic process	IMP	biological_process
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	IDA	molecular_function
GO:0008389	coumarin 7-hydroxylase ac tivity	TAS	molecular_function
GO:0008392	arachidonic acid epoxygen ase activity	IBA	molecular_function
GO:0008395	steroid hydroxylase activ ity	IBA	molecular_function
GO:0009804	coumarin metabolic proces s	IDA	biological_process
GO:0009804	coumarin metabolic proces s	TAS	biological_process
GO:0017144	drug metabolic process	IMP	biological_process
GO:0017144	drug metabolic process	IDA	biological_process
GO:0019373	epoxygenase P450 pathway	IBA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0020037	heme binding	IDA	molecular_function
GO:0042738	exogenous drug catabolic process	IDA	biological_process
GO:0046226	coumarin catabolic proces s	IDA	biological_process

KEGG pathways

hsa01100  Metabolic pathways
PTHR24300:SF293  Nicotine degradation
hsa05204  Chemical carcinogenesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
hsa00982  Drug metabolism - cytochrome P450
PTHR24300:SF293  Nicotine degradation
hsa00830  Retinol metabolism
hsa00983  Drug metabolism - other enzymes
hsa00232  Caffeine metabolism
PTHR24300:SF180  Nicotine degradation

Diseases

Associated diseases	References
Endometriosis (ovarian)	PMID: 25298284
Dementia	PMID: 12486288
Emphysema	PMID: 12832682
Liver disease	PMID: 12708602
Lung cancer	OMIM: 122720
Ovarian endometriosis	PMID: 25298284
Ovarian endometriosis	PMID: 25298284
Endometriosis-associated ovarian carcinoma	INFBASE25298284
Ovarian endometriosis	INFBASE25298284

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25298284	Endometrio sis (ovari an)			30 EMS-associat ed ovarian carc inoma (18 Ovari an endometrioid cancer, 12 ova rian clear cell cancer)	Female infertility	RASSF2 RUNX3 GSTZ1 CYP2A GBGT1 NDUFS1 SPOCK2 ADAM22 and TRIM36	Show abstract