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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP2A6 Gene

protein-coding GIFtS: 67
GCID: GC19M041352

cytochrome P450, family 2, subfamily A, polypeptide 6

(Previous names: cytochrome P450, subfamily IIA (phenobarbital-inducible),...)
(Previous symbol: CYP2A3)

Explore 74 diseases affiliated with
CYP2A6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily A, Polypeptide 6¹ ²		CYPIIA6² ³
CYP2A3¹ ² ³ ⁵		P450C2A² ⁵
CYP2A¹ ² ⁵		P450PB²
CPA6¹ ²		Cytochrome P450 2A6²
Cytochrome P450, Subfamily IIA (Phenobarbital-Inducible), Polypeptide 6¹ ²		Flavoprotein-Linked Monooxygenase²
Coumarin 7-Hydroxylase² ³		Xenobiotic Monooxygenase²
Cytochrome P450 IIA3² ³		EC 1.14.13.-³
Cytochrome P450(I)² ³		EC 1.14.14.1⁸
1,4-Cineole 2-Exo-Monooxygenase² ³

External Ids:	HGNC: 2610¹	Entrez Gene: 1548²	Ensembl: ENSG00000255974⁷	OMIM: 122720⁵	UniProtKB: P11509³

Export aliases for CYP2A6 gene to outside databases

Previous GC identifers: GC19M041988 GC19M041741 GC19M046001 GC19M046017 GC19M046019 GC19M046041 GC19M041351

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP2A6:

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)

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509

Function: Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs

cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major

nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity

Gene Wiki entry for CYP2A6

PharmGKB "VIP" summary for CYP2A6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP2A6 gene promoter:
AREB6 USF1 AML1a USF-1 USF2 USF-1:USF-2 MRF-2 En-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP2A6 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP2A6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2A6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2

CYP2A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2A6 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M041352: view genomic region (about GC identifiers)

Start:	41,349,443 bp from pter	End:	41,356,352 bp from pter
Size:	6,910 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509 (See protein sequence)

Recommended Name: Cytochrome P450 2A6

Size: 494 amino acids; 56501 Da

Cofactor: Heme group

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

Sequence caution: Sequence=AAA52147.1; Type=Miscellaneous discrepancy; Note=Numerous conflicts and frameshifts;

6/10 PDB 3D structures from and Proteopedia for CYP2A6 (see all 10):

1Z10 (3D)

1Z11 (3D)

2FDU (3D)

2FDV (3D)

2FDW (3D)

2FDY (3D)

Secondary accessions: A7YAE5 B2R7F6 P00190 P10890 Q16803 Q4VAT9 Q4VAU0 Q4VAU1 Q9H1Z7 Q9UCU0 Q9UK48

Explore the universe of human proteins at neXtProt for CYP2A6: NX_P11509

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11509

4/22 DME Specific Peptides for CYP2A6 (P11509) (see all 22)

DRAKMPY

GKLPPGP

PGPTPLP

LLLMKHP

CYP2A6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000753.3

ENSEMBL proteins:

ENSP00000301141

Reactome Protein details: P11509
Human Recombinant Protein Products:

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	Uscn Proteins for CYP2A6

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--

CYP2A6 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CYP2A6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP2A6 for domains About GeneDecksing

4 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

IPR008067 Cyt_P450_E_grp-I_CYP2A-like

Graphical View of Domain Structure for InterPro Entry P11509

ProtoNet protein and cluster: P11509

2 Blocks protein families:

IPB002401 E-class P450 group I signature

IPB008067 CYP2A P450 family signature

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509

Function: Exhibits a high coumarin 7-hydroxylase activity. Can act in the hydroxylation of the anti-cancer drugs

cyclophosphamide and ifosphamide. Competent in the metabolic activation of aflatoxin B1. Constitutes the major

nicotine C-oxidase. Acts as a 1,4-cineole 2-exo-monooxygenase. Possesses low phenacetin O-deethylation activity

Catalytic activity: 1,4-cineole + NADPH + O(2) = 2-exo-hydroxy-1,4-cineole + NADP(+) + H(2)O

Biophysicochemical properties: Kinetic parameters: KM=0.23 uM for coumarin; KM=530 uM for 1,4-cineole; Vmax=3.5

nmol/min/nmol enzyme toward 2-exo-hydroxy-1,4-cineole;

Induction: By phenobarbital and dexamethasone

Genatlas biochemistry entry for CYP2A6:

cytochrome P450,subfamily IIA (phenobarbital-inducible),polypeptide 6,major nicotine c oxidase,involved in nicotine

elimination,susceptibility factor for nicotine addiction and lung cancer,reduced by gene deletion,deleted in the poor

metabolizer phenotype

Enzyme Numbers (IUBMB): EC 1.14.14.1² EC 1.14.13.-¹

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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2A6

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0008389	coumarin 7-hydroxylase activity	IDA	19029318
GO:0009055	electron carrier activity	IEA	--
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	--
GO:0019899	enzyme binding	IPI	15680923

CYP2A6 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/20 super-pathways (see all 20) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Acetaminophen Pathway, Pharmacokinetics

	Pathway_PA165986194 -need delete	1.00			Acetaminophen metabolism	0.43
	Acetaminophen Pathway, Pharmacokinetics	1.00			Acetaminophen metabolism	0.43

Xenobiotics

	Xenobiotics	1.00			Phenytoin Pathway, Pharmacokinetics	0.42
	CYP2E1 reactions	0.65			Carbamazepine Pathway, Pharmacokinetics	0.38

Ifosfamide Pathway, Pharmacokinetics

	Ifosfamide Pathway, Pharmacokinetics	1.00			Artemisinin and Derivatives Pathway, Pharmacokinetics	0.50
	Cyclophosphamide Pathway, Pharmacokinetics	0.86

Retinol metabolism

Retinol metabolism

1.00

Retinol metabolism

0.95

Cytochrome P450 - arranged by substrate type

Cytochrome P450 - arranged by substrate type

1.00

Phase 1 - Functionalization of compounds

0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for CYP2A6

	Retinol metabolism
	Naphthalene metabolism
	Acetaminophen metabolism

3 GeneGo (Thomson Reuters) Pathways for CYP2A6

	Retinol metabolism
	Naphthalene metabolism
	Acetaminophen metabolism

5/10 BioSystems Pathways for CYP2A6 (see all 10)

	Fluoropyrimidine Activity
	Nicotine metabolism
	melatonin degradation I
	bupropion degradation
	nicotine degradation III

5/6 Reactome Pathways for CYP2A6 (see all 6)

	Cytochrome P450 - arranged by substrate type
	Xenobiotics
	Metabolism
	Biological oxidations
	Phase 1 - Functionalization of compounds

5/12 PharmGKB Pathways for CYP2A6 (see all 12)

	Acetaminophen Pathway, Pharmacokinetics
	Artemisinin and Derivatives Pathway, Pharmacokinetics
	Caffeine Pathway, Pharmacokinetics
	Carbamazepine Pathway, Pharmacokinetics
	Cyclophosphamide Pathway, Pharmacokinetics

5 Kegg Pathways (Kegg details for CYP2A6):

	Caffeine metabolism
	Retinol metabolism
	Drug metabolism - cytochrome P450
	Drug metabolism - other enzymes
	Metabolic pathways

CYP2A6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP2A6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/43 Interacting proteins for CYP2A6 (ENSP00000301141⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALDH1A1	ENSP00000297785⁴	STRING: ENSP00000297785
ALDH1A2	ENSP00000249750⁴	STRING: ENSP00000249750
CYP1A1	ENSP00000369050⁴	STRING: ENSP00000369050
CYP1A2	ENSP00000342007⁴	STRING: ENSP00000342007
CYP26A1	ENSP00000224356⁴	STRING: ENSP00000224356

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008202	steroid metabolic process	IMP	18356043
GO:0009804	coumarin metabolic process	IDA	19651758
GO:0017144	drug metabolic process	IMP	18356043
GO:0042738	exogenous drug catabolic process	IDA	15680923

CYP2A6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP2A6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP2A6

10/50 HMDB Compounds for CYP2A6 (see all 50) About this table

Compound	Synonyms	CAS #	PubMed Ids
10-HETE	10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)	167697-52-1	--
11,12,15-THETA	11,12,15-Trihydroxyicosatrienoic acid (see all 5)	--	--
11,12-Epoxyeicosatrienoic acid	10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)	81276-02-0	--
11,14,15-THETA	(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)	--	--
11H-14,15-EETA	14,15-Ep-11-HETrE (see all 11)	219535-29-2	--
11beta-Hydroxytestosterone	11beta,17beta-dihydroxyandrost-4-en-3-one	1816-85-9	--
12,13-EpOME	Vernolic acid (see all 12)	--	--
13-HETE	13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)	151910-72-4	--
14,15-Epoxy-5,8,11-eicosatrienoic acid	(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)	81276-03-1	--
15(S)-HPETE	(5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8)	70981-96-3	--

10/73 DrugBank Compounds for CYP2A6 (see all 73) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ifosfamide	Asta Z 4942 (see all 10)	3778-73-2	enzyme	substrate	16702183 19934256 10348794
Selegiline	L-Deprenalin (see all 4)	14611-51-9	enzyme	substrate	19300583 17495414 19934256
Arformoterol	--	67346-49-0	enzyme	substrate	10671910 17627976
Cinnarizine	--	298-57-7	enzyme	substrate	19934256 19515014
Flunarizine	(E)-1-[Bis-(p-fluorophenyl)methyl]-4-cinnamylpiperazine (see all 6)	52468-60-7	enzyme	substrate	19934256 19515014
Flurazepam	--	17617-23-1	enzyme	substrate	1971572 18936109
Formoterol	Formoterol fumarate (see all 2)	73573-87-2	enzyme	substrate	10671910 17627976
Halothane	2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)	151-67-7	enzyme	substrate	19442086 19934256
Phenobarbital	Fenobarbital (see all 7)	50-06-6	enzyme	inhibitor inducer	13677397 19934256
Valproic Acid	2-propylvaleric acid (see all 5)	99-66-1	enzyme	substrate	19934256 19515014

10/157 Novoseek chemical compound relationships for CYP2A6 gene (see all 157) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
coumarin	93.5	275	9143352 (5), 8461033 (4), 15196988 (4), 9173680 (4) (see all 99)
chlorzoxazone	86.9	24	10510277 (1), 9744576 (1), 12818727 (1), 8117926 (1) (see all 17)
troleandomycin	84.2	10	9806945 (1), 11506127 (1), 9143352 (1), 8203907 (1) (see all 8)
sulfaphenazole	83.9	6	8886607 (1), 9143352 (1), 11302937 (1), 9492382 (1) (see all 6)
4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone	82.8	10	8022436 (1), 16176798 (1), 11259349 (1), 17139156 (1) (see all 9)
bufuralol	82.7	12	8946477 (1), 9698290 (1), 9929510 (1), 16914511 (1) (see all 8)
ethoxyresorufin	82.5	32	11585060 (2), 15093319 (1), 10224324 (1), 11700007 (1) (see all 25)
furafylline	82.3	6	8886607 (1), 9143352 (1), 11585060 (1), 11302937 (1) (see all 6)
7-hydroxycoumarin	81.4	9	9806947 (2), 18840518 (1), 8739824 (1), 16914511 (1) (see all 5)
afmu	80.2	11	11073287 (1), 17221922 (1), 11270802 (1), 9653923 (1)

3 PharmGKB related drug/compound annotations for CYP2A6 gene

Drug/compound	PharmGKB Annotation
coumarin	CA
efavirenz	CA
nicotine	CA

About this table

Search CenterWatch for drugs/clinical trials and news about CYP2A6 / CP2A6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYP2A6 gene:

NM_000762.5

Unigene Cluster for CYP2A6:

Cytochrome P450, family 2, subfamily A, polypeptide 6

Hs.250615 [show with all ESTs]

Unigene Representative Sequence: NM_000762

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000301141(uc002opl.4 uc010ehe.1 uc010ehf.1)

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Additional cDNA sequence:

AF182275.1 AK307740.1 AK309594.1 AK312964.1 BC096253.3 BC096254.1 BC096255.1 BC096256.1

M33318.1 X06401.1 X13897.1 X13929.1 X13930.1

12 DOTS entries:

DT.441444 DT.100796642 DT.102820753 DT.102836902 DT.95161335 DT.121503458 DT.121503361 DT.92430530

DT.100796640 DT.121503314 DT.92430531 DT.92430534

24/114 AceView cDNA sequences (see all 114):

NM_000762 NM_030589 NM_000764 AV661332 M33317 CB137781 CB121445 CB142718

BM979947 CB124837 CB135601 AV646570 CB137671 CB146694 CB135793 BQ302898

CB147167 CB130051 CB116943 CB121427 BV207402 CB135600 CB111964 X13897

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP2A6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCTTCCTGC

About this image

CYP2A6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CYP2A6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP2A6

SOURCE GeneReport for Unigene cluster: Hs.250615

UniProtKB/Swiss-Prot: CP2A6_HUMAN, P11509

Tissue specificity: Liver

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CYP2A6 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 4)	--	53(a) 50(a) (see all 4)	possible ortholog possible ortholog (see all 4)	LGf(2965993-2976553) LGf(2923593-2936165)
zebrafish (Danio rerio)	Actinopterygii	cyp2y3⁶ CU928854.1⁶	--	49(a) 48(a)	many ↔ many many ↔ many	15(65144-71354) 15(54297-58832)

ENSEMBL Gene Tree for CYP2A6 (if available)
TreeFam Gene Tree for CYP2A6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP2A6 gene

CYP2W1² CYP2C8² CYP2F1² CYP2A7² CYP2R1² CYP2U1² CYP2J2² CYP2E1²

CYP2D6² CYP2B7P1² CYP2B6² CYP2C19² CYP2S1² CYP2C9² CYP2C18² CYP2A13²

18/25 SIMAP similar genes for CYP2A6 using alignment to 2 protein entries: CP2A6_HUMAN (see all proteins) (see all similar genes):

CYP2A6V2 CYP2A13 CYP2A7 CYP2B CYP2B7 CYP2C19

CYP2C18 CYP2C8 CYP2C9 CYP2F1 CYP2S1 CYP2E1

CYP 2C CYP2B6 CYP2J2 CYP2R1 CYP2U1 CYP2D6

CYP2A6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111033610^1,2	C,	pathogenic	41352941(-)	`TGTTCT/CCTTCG`	2	/P /S	mis¹		1		EU	1321
rs28742185^1,2	C,F	--	41349172(+)	`AAAACC/TCCCCA`	1	--	ds500¹		4		NA WA	8
rs2259217^1,2	F,,	--	41349233(+)	`GGAATA/GGGTGC`	1	--	ds500¹		1		EA	120
rs2259218^1,2	H	--	41349238(+)	`AGGTGC/GTTTTT`	1	--	ds500¹		4		NS EA	414
rs2259219^1,2	F,H,	--	41349250(+)	`AGAATC/GTGTCT`	1	--	ds500¹		6		NS EA NA WA	520
rs2431412^1,2	F,	--	41349259(+)	`CTAGAA/GGGCTA`	1	--	ds500¹		5		NA WA	244
rs183581274^1,2		--	41349288(+)	`CAAAGA/TTTTTC`	1	--	ds500¹		0	--	--	--	--
rs72549453^1,2	C,	--	41349343(+)	`CTCAGC/TTTTGT`	1	--	ds500¹		0	--	--	--	--
rs146895354^1,2		--	41349351(+)	`TGTCAC/GGTGTA`	1	--	ds500¹		0	--	--	--	--
rs72549451^1,2	C,	--	41349396(+)	`CAATT-/AAGTG AGGTG`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP2A6 (41349443 - 41356352 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 13 variations for CYP2A6
13 CNVs: 10556 7205 23223 78193 9795 1990 35646 38821 4081 32255 50141 89235 67546
Human Gene Mutation Database (HGMD): CYP2A6

Locus Specific Mutation Databases (LSDB): CYP2A6

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CYP2A6 for disorders           About GeneDecksing

OMIM gene information: 122720
OMIM disorders: 122700  188890  211980
20/74 diseases for CYP2A6 (see all 74):    About MalaCards

nicotine addiction, protection from antley-bixler syndrome nicotine addiction human immunodeficiency virus infectious disease

non-small cell lung carcinoma coumarin resistance growth hormone deficiency malignant pleural mesothelioma

cholesterol liver cirrhosis warfarin resistance alcoholic liver cirrhosis

biliary tract cancer herpes simplex nicotine dependence viral hepatitis

toxic encephalopathy fatty liver disease esophageal squamous cell carcinoma squamous cell carcinoma

2 diseases from the University of Copenhagen DISEASES database for CYP2A6:

Nicotine dependence Lung cancer

10/39 Novoseek disease relationships for CYP2A6 gene (see all 39) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer lung	34.2	41	15308589 (5), 10441482 (4), 11207029 (4), 17549345 (3) (see all 19)
tobacco dependence	33.8	2	12818518 (1), 11207029 (1)
smoking habit	27.9	10	15534625 (1), 18004205 (1), 18666753 (1), 17934923 (1) (see all 5)
cancer	16.8	28	11927498 (2), 16176798 (2), 10517986 (2), 20136358 (1) (see all 22)
liver damage	15.3	1	11131450 (1)
alcoholic cirrhosis	12.8	1	11131450 (1)
liver diseases	10.6	8	11131450 (3), 9831966 (3), 9453493 (1), 15155834 (1)
renal disease	4.72	5	15531436 (2)
tuberculosis	3.29	2	17073780 (2)
carcinoma	2.58	5	11241319 (2), 17683511 (1), 16176798 (1)

Genetic Association Database (GAD): CYP2A6
Human Genome Epidemiology (HuGE) Navigator: CYP2A6 (144 documents)

Export disorders for CYP2A6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP2A6 gene, integrated from 9 sources (see all 735):
(articles sorted by number of sources associating them with CYP2A6)

Utopia: connect your pdf to the dynamic
world of online information

A novel single nucleotide polymorphism altering stability and activity of CYP2a6. (PubMed id 11237731)^{1, 2, 4} Ariyoshi N.... Kamataki T. (2001)
cDNA and deduced amino acid sequences of human P450 IIA3 (CYP2A3). (PubMed id 2748347)^{1, 2, 3} Yamano S....Gonzalez F.J. (1989)
Variation in coumarin 7-hydroxylase activity associated with genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores in adult Thai males and females. (PubMed id 11927840)^{1, 4, 9} Ujjin P....Kamataki T. (2002)
Frequency of CYP2A6 gene deletion and its relation to risk of lung and esophageal cancer in the Chinese population. (PubMed id 11241319)^{1, 4, 9} Tan W....Lin D.X. (2001)
Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descent. (PubMed id 18360915)^{1, 2, 9} Mwenifumbo J.C....Tyndale R.F. (2008)
Three haplotypes associated with CYP2A6 phenotypes in Caucasians. (PubMed id 16041240)^{1, 4, 9} Haberl M....Wojnowski L. (2005)
Comparison of cytochrome P450 2A6 polymorphism frequencies in Caucasians and African-Americans using a new one-step PCR-RFLP genotyping method. (PubMed id 11684323)^{1, 4, 9} Paschke T....Bepler G. (2001)
Association of CYP2A6 gene deletion with cigarette smoking status in Japanese adults. (PubMed id 12749606)^{1, 4, 9} Ando M....Ohno Y. (2003)
CYP2A6 genetic variation and potential consequences. (PubMed id 12406643)^{1, 4, 9} Xu C....Tyndale R.F. (2002)
Cytochrome P450 2A6 polymorphism in nasopharyngeal carcinoma. (PubMed id 16377082)^{1, 4, 9} Tiwawech D....Ishida T. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1548	HGNC: 2610	AceView: CYP2A6andCYP2A7	Ensembl:ENSG00000255974	euGenes: HUgn1548
ECgene: CYP2A6	Kegg: 1548	H-InvDB: CYP2A6

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CYP2A6	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP2A6	Genetics and Cytogenetics in Oncology and Haematology
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp2a6.htm
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp2a6/
Wikipedia	http://en.wikipedia.org/wiki/CYP2A6

Intellectual Property for CYP2A6 gene
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CYP2A6 Gene

cytochrome P450, family 2, subfamily A, polypeptide 6

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CYP2A6 Gene

cytochrome P450, family 2, subfamily A, polypeptide 6

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