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CYP2E1 Gene

protein-coding GIFtS: 70
GCID: GC10P135352

Cytochrome P450, Family 2, Subfamily E, Polypeptide 1

(Previous names: cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide...)
(Previous symbol: CYP2E)

See CYP2E1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Cytochrome P450, Family 2, Subfamily E, Polypeptide 1¹ ²		P450-J²
CYP2E¹ ² ³ ⁵		Cytochrome P450 2E1²
Cytochrome P450, Subfamily IIE (Ethanol-Inducible), Polypeptide 1¹ ²		Flavoprotein-Linked Monooxygenase²
Cytochrome P450-J² ³		Microsomal Monooxygenase²
4-Nitrophenol 2-Hydroxylase² ³		Xenobiotic Monooxygenase²
CYPIIE1² ³		EC 1.14.13.-³
P450C2E² ⁵		EC 1.14.13.n7³
CPE1²		EC 1.14.14.1⁸

External Ids:	HGNC: 2631¹	Entrez Gene: 1571²	Ensembl: ENSG00000130649⁷	OMIM: 124040⁵	UniProtKB: P05181³

Export aliases for CYP2E1 gene to outside databases

Previous GC identifers: GC10P134255 GC10P134470 GC10P135256 GC10P134814 GC10P135229 GC10P128882

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP2E1 Gene:

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. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic

state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal,

as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which

are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied

processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP2E1 Gene:

CYP2E1 (cytochrome P450, family 2, subfamily E, polypeptide 1) is a protein-coding gene. Diseases associated with CYP2E1 include alcoholic hepatitis, and benzene toxicity. GO annotations related to this gene include iron ion binding and enzyme binding. An important paralog of this gene is CYP2W1.

UniProtKB/Swiss-Prot: CP2E1_HUMAN, P05181

Function: Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of

drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms

Gene Wiki entry for CYP2E1 Gene

PharmGKB "VIP" summary for CYP2E1

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000010.10 NC_018921.2 NT_030059.14

Regulatory elements:

Regulatory transcription factor binding sites in the CYP2E1 gene promoter:
AhR Max1 STAT1 AP-1 ATF-2 Lmo2 HSF2 ARP-1 c-Jun c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP2E1 promoter sequence

Search Chromatin IP Primers for CYP2E1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP2E1

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

Entrez Gene cytogenetic band: 10q26.3 Ensembl cytogenetic band: 10q26.3 HGNC cytogenetic band: 10q26.3

CYP2E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2E1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P135352: view genomic region (about GC identifiers)

Start:	135,333,910 bp from pter	End:	135,374,724 bp from pter
Size:	40,815 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CP2E1_HUMAN, P05181 (See protein sequence)

Recommended Name: Cytochrome P450 2E1

Size: 493 amino acids; 56849 Da

Cofactor: Heme group

6 PDB 3D structures from and Proteopedia for CYP2E1:

3E4E (3D)

3E6I (3D)

3GPH (3D)

3KOH (3D)

3LC4 (3D)

3T3Z (3D)

Secondary accessions: Q5VZD5 Q6NWT9 Q9UK47

Explore the universe of human proteins at neXtProt for CYP2E1: NX_P05181

Explore proteomics data for CYP2E1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

7 DME Specific Peptides for CYP2E1 (P05181) (see first 4)

AGTETTS	PFSTGKR	EIDRVIG	VDPKDID
TTSTTLRY	GEGLARME	LFFAGTET

See CYP2E1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000764.1

ENSEMBL proteins:

ENSP00000440689 ENSP00000437799 ENSP00000444958 ENSP00000412754 ENSP00000397299

ENSP00000252945

Reactome Protein details: P05181

CYP2E1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

CYP: Cytochrome P450s

IUPHAR Guide to PHARMACOLOGY protein family classification: CYP2E1

CYP2 family

4 InterPro protein domains:

IPR001128 Cyt_P450

IPR008070 Cyt_P450_E_grp-I_CYP2E-like

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry P05181

ProtoNet protein and cluster: P05181

2 Blocks protein domains:

IPB002401 E-class P450 group I signature

IPB008070 CYP2E P450 family signature

UniProtKB/Swiss-Prot: CP2E1_HUMAN, P05181

Similarity: Belongs to the cytochrome P450 family

Find genes that share domains with CYP2E1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: CP2E1_HUMAN, P05181

Function: Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of

drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms

Catalytic activity: 4-nitrophenol + NADPH + O(2) = 4-nitrocatechol + NADP(+) + H(2)O

Induction: By ethanol and isoniazid

Enzyme Numbers (IUBMB): EC 1.14.13.n7¹ EC 1.14.14.1² EC 1.14.13.-¹

Gene Ontology (GO): Selected molecular function terms (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IDA	19651758
GO:0005506	iron ion binding	IEA	--
GO:0016491	oxidoreductase activity	IDA	16401082
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	--	--
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	TAS	18818195

Find genes that share ontologies with CYP2E1 About GenesLikeMe

Phenotypes:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp2e1):

behavior/neurological	cardiovascular system	homeostasis/metabolism	liver/biliary system	mortality/aging
tumorigenesis

Find genes that share phenotypes with CYP2E1 About GenesLikeMe

Animal Models:
MGI mouse knock-out Cyp2e1^tm1Gonz for CYP2E1

genOway: Develop your customized and physiologically relevant rodent model for CYP2E1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2E1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

CP2E1_HUMAN, P05181: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
mitochondrion	3
cytosol	2
extracellular	2
golgi apparatus	2
nucleus	2
peroxisome	2
lysosome	1
plasma membrane	1
vacuole	1

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Gene Ontology (GO): Selected cellular component terms (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IEA	--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for CYP2E1 About (see all 20)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Biological oxidations

Biological oxidations	0.56	Acetaminophen metabolism	0.00
metapathway biotransformation	0.42	Tamoxifen metabolism	0.00
Phenytoin Pathway, Pharmacokinetics	0.00

Cytochrome P450 - arranged by substrate type

Cytochrome P450 - arranged by substrate type	0.75	Xenobiotics
Phase 1 - Functionalization of compounds	0.75	CYP2E1 reactions
cytochrome P450	0.74	Fatty Acid Omega Oxidation

Chemical carcinogenesis

	Metabolism of xenobiotics by cytochrome P450	0.71			Drug metabolism - cytochrome P450	0.69
	Chemical carcinogenesis	0.71			Retinol metabolism	0.32

Arachidonic acid metabolism

	Linoleic acid metabolism	0.64			HETE and HPETE biosynthesis and metabolism	0.33
	Arachidonic acid metabolism	0.41

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

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Pathways by source See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CYP2E1

Pancreatic Adenocarcinoma

Selected GeneGo (Thomson Reuters) Pathways for CYP2E1 (see all 6)

	Retinol metabolism
	HETE and HPETE biosynthesis and metabolism
	Naphthalene metabolism
	2-Naphthylamine and 2-Nitronaphtalene metabolism
	Dichloroethylene metabolism

Selected BioSystems Pathways for CYP2E1 (see all 11)

	cytochrome P450
	Vitamin A and carotenoid metabolism
	oxidative ethanol degradation III
	methylglyoxal degradation III
	Tamoxifen metabolism

2 Reactome Pathways for CYP2E1

	Xenobiotics
	CYP2E1 reactions

Selected PharmGKB Pathways for CYP2E1 (see all 6)

	Acetaminophen Pathway, Pharmacokinetics
	Caffeine Pathway, Pharmacokinetics
	Carbamazepine Pathway, Pharmacokinetics
	Phenytoin Pathway, Pharmacokinetics
	Theophylline Pathway, Pharmacokinetics

Selected Kegg Pathways (Kegg details for CYP2E1) (see all 8):

	Steroid hormone biosynthesis
	Arachidonic acid metabolism
	Linoleic acid metabolism
	Metabolism of xenobiotics by cytochrome P450
	Drug metabolism - cytochrome P450

Pathway & Disease-focused RT² Profiler PCR Arrays including CYP2E1 (see all 6):

Cancer Drug Resistance in human mouse rat

Fatty Liver in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for CYP2E1

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

Selected Interacting proteins for CYP2E1 (P05181³ ENSP00000252945⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 118)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AMFR	Q9UKV5³, ENSP00000290649⁴	I2D: score=1 STRING: ENSP00000290649
FANCG	O15287³, ENSP00000367910⁴	I2D: score=1 STRING: ENSP00000367910
STUB1	Q9UNE7³, ENSP00000219548⁴	I2D: score=1 STRING: ENSP00000219548
HSPA4	P34932³, ENSP00000302961⁴	I2D: score=1 STRING: ENSP00000302961
HSP90AA1	P07900³, ENSP00000335153⁴	I2D: score=1 STRING: ENSP00000335153

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Gene Ontology (GO): Selected biological process terms (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006641	triglyceride metabolic process	IEA	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008202	steroid metabolic process	IMP	18356043
GO:0010193	response to ozone	IEA	--
GO:0010243	response to organonitrogen compound	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CYP2E1 (CP2E1)

Selected HMDB Compounds for CYP2E1 (see all 47) About this table

Compound	Synonyms	CAS #	PubMed Ids
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	--
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	--
15H-11,12-EETA	15-Hydroxy-11,12-epoxyeicosatrienoic acid (see all 9)	877878-78-9	--
16(R)-HETE	16R-HETE (see all 4)	--	--

Selected DrugBank Compounds for CYP2E1 (see all 124) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Benzyl alcohol	(Hydroxymethyl)benzene (see all 10)	100-51-6	enzyme	substrate	8347164 9065730 9253143 15129551
Chlorzoxazone	Chloroxazone (see all 3)	95-25-0	enzyme	substrate inhibitor	15255802 9890159 9879636
Halothane	2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)	151-67-7	enzyme	substrate	9103523 19442086 19934256
Trimethadione	Trimetadione (see all 3)	127-48-0	enzyme	substrate	14651673 9879636 19934256
Acetaminophen	Acetaminofen (see all 5)	103-90-2	enzyme	substrate	11095574 19934256
Caffeine	Cafeina (see all 7)	58-08-2	enzyme	substrate	19934256 19515014
Carvedilol	--	72956-09-3	enzyme	substrate	19934256 19515014
Chlorpromazine	--	50-53-3	enzyme	inhibitor	19934256 11996015
Dapsone	1,1'-Sulfonylbis[4-aminobenzene] (see all 8)	80-08-0	enzyme	substrate	19934256 19515014
Dexmedetomidine	Medetomidina [Spanish] (see all 3)	113775-47-6	enzyme	substrate	18638298 20020418

Selected Novoseek inferred chemical compound relationships for CYP2E1 gene (see all 162) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chlorzoxazone	95.3	190	16393464 (4), 9531516 (4), 15255802 (4), 11602665 (3) (see all 91)
6-hydroxychlorzoxazone	91.7	22	10490907 (2), 12585472 (2), 17119944 (1), 9322481 (1) (see all 16)
rsai	88	55	8547826 (4), 7534543 (4), 9825833 (3), 8977352 (2) (see all 33)
dimethylnitrosamine	80.9	23	8622629 (1), 9675256 (1), 17567472 (1), 18378564 (1) (see all 20)
p-nitrophenol	80.7	42	15135088 (4), 17584020 (2), 14669323 (2), 14556645 (2) (see all 28)
furafylline	77	2	9394024 (1), 10821163 (1)
acetaldehyde	76.3	54	16365683 (4), 16553429 (4), 17590984 (2), 12940444 (2) (see all 27)
nitrosamines	75	29	15242818 (4), 17146594 (2), 9806171 (2), 18818195 (1) (see all 18)
chlorodifluoroacetic acid	74.7	2	12451447 (1)
epoxide	74.3	31	8232220 (2), 16039674 (2), 8377657 (1), 8236284 (1) (see all 27)

Selected PharmGKB related drug/compound annotations for CYP2E1 gene (see all 18) About this table

Drug/compound	PharmGKB Annotation
acetaminophen
cisplatin	CA
citalopram
cyclophosphamide	CA
cytarabine	CA
dasatinib
dexlansoprazole
dextromethorphan
diazepam
esomeprazole

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CYP2E1 gene:

NM_000773.3

Unigene Cluster for CYP2E1:

Cytochrome P450, family 2, subfamily E, polypeptide 1

Hs.12907 [show with all ESTs]

Unigene Representative Sequence: NM_000773

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000463117 ENST00000541261 ENST00000477500 ENST00000541080 ENST00000421586

ENST00000418356 ENST00000480558 ENST00000368520(uc001lnl.1) ENST00000469258

ENST00000252945(uc001lnj.1 uc001lnk.1 uc009ybl.1 uc009ybm.1)

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		Predesigned siRNA for gene silencing in human, mouse, rat CYP2E1

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		QuantiFast Probe-based Assays in human, mouse, rat CYP2E1

Additional mRNA sequence:

AF084225.1 AF182276.1 AJ853939.1 AJ853940.1 AJ877238.1 AK290822.1 BC067433.1 BC067435.1

DQ149222.1 J02625.1 S77873.1

14 DOTS entries:

DT.444621 DT.99987835 DT.92449334 DT.121278796 DT.91699780 DT.92449330 DT.100772634 DT.100798406

DT.40296356 DT.40227062 DT.92449335 DT.100798402 DT.100798404 DT.92449336

Selected AceView cDNA sequences (see all 154):

CB154278 CR621945 BX951454 T64762 CR603555 CR626742 CR592801 AV697094

CA311379 CR618024 CB124845 CR622294 AL558632 CR626746 AL531476 BX449120

BQ879759 BC067433 AF182276 BG545140 CB111967 BX445313 BG564519 AL564573

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYP2E1 (see all 8) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b
SP1:															-				-												-
SP2:											-		-		-				-												-
SP3:											-		-		-		-		-												-
SP4:											-		-		-				-		-		-						-		-
SP5:

ECgene alternative splicing isoforms for CYP2E1

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CYP2E1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGTGTGTGGA

About this image

CYP2E1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Liver (Hepatobiliary System) fully expand to see all 3 entries
Mature Hepatocytes Liver Lobule

Adipose (Muscoskeletal System) fully expand to see all 2 entries
Body Subcutaneous White Adipose

Esophagus (Gastrointestinal Tract)

CYP2E1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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CYP2E1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.12907

Pathway & Disease-focused RT² Profiler PCR Arrays including CYP2E1 (see all 6):

Cancer Drug Resistance in human mouse rat

Fatty Liver in human mouse rat

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for CYP2E1 OriGene qSTAR qPCR primer pairs in human, mouse for CYP2E1
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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2E1

(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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for CYP2E1 gene from Selected species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cyp2e1^{1 , 5}	cytochrome P450, family 2, subfamily e, polypeptide more^{1, 5}	79.45(n)¹ 78.09(a)¹		7 (85.94 cM)⁵ 13106¹ NM_021282.2¹ NP_067257.1¹ 140763832⁵

ENSEMBL Gene Tree for CYP2E1 (if available)
TreeFam Gene Tree for CYP2E1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP2E1 gene

CYP2W1² CYP2C8² CYP2A6² CYP2F1² CYP2A7² CYP2B6² CYP2C19² CYP2R1²

CYP2J2² CYP2U1² CYP2S1² CYP2C9² CYP2D6² CYP2C18² CYP2A13²

Selected SIMAP similar genes for CYP2E1 using alignment to 11 protein entries: CP2E1_HUMAN (see all proteins) (see all similar genes):

CYP2C19 CYP 2C CYP2C9 CYP2C8 CYP2C18 CYP2G1P

CYP2A13 CYP2A6 CYP2A6V2 CYP2F1 CYP2B CYP2A7

CYP2B6 CYP2B7 CYP2S1 DKFZp686I24235 CYP2R1 CYP2J2

Find genes that share paralogs with CYP2E1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11445593^1,2	C,F	--	135340866(+)	`ATTGTC/-CTCCC`	1	--	us2k¹		8		NS NA CSA	196
rs8192774^1,2	C	--	135347873(+)	`ACCCTC/TGTCGT`	1	--	int¹		1		NA	2
rs11368724^1,2	C	--	135347875(+)	`CCCTT-/C/CG/ CGT/GTCGTTCC`	3	--	int¹ cds¹		1		CSA	2
rs66518203^1,2	C	--	135347876(+)	`CCTTG-/C/GTC TTCCT`	2	--	int¹ cds¹		0	--	--	--	--
rs71016459^1,2	C	--	135348373(+)	`ATTTA-/TTTTTT`	1	--	int¹		2		NA CSA	4
rs12761234^1,2	C,F,A	--	135349914(+)	`ATGGAT/CGGACG`	1	--	int¹		4		NA WA CSA	7
rs61868330^1,2	C	--	135350036(+)	`GGATGG/TATAGA`	1	--	int¹		0	--	--	--	--
rs138580673^1,2	C	--	135350036(+)	`GGATG-/TATA GATGG`	1	--	int¹		0	--	--	--	--
rs147973606^1,2	C	--	135350490(+)	`GAATA-/GATG GGTGGATGATGG`	1	--	int¹		0	--	--	--	--
rs76496008^1,2	C	--	135350491(+)	`GGATG-/ATGG GTGGATGCCCAA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP2E1 (135333910 - 135374724 bp)

Structural Variations
Database of Genomic Variants (DGV) Selected variations for CYP2E1 (see all 59): About this table

Variant ID	Type	Subtype	PubMed ID
dgv181e199	CNV	Deletion	23128226
esv2421904	CNV	Duplication	20811451
nsv436819	CNV	Insertion	17901297
dgv899n71	CNV	Loss	21882294
nsv498746	CNV	Loss	21111241
nsv819137	CNV	Loss	19587683
esv2750875	CNV	Loss	17911159
dgv901n71	CNV	Loss	21882294
nsv528260	CNV	Loss	19592680
nsv7631	CNV	Loss	18451855

The Human Cytochrome P450 Allele Nomenclature Database: CYP2E1

Human Gene Mutation Database (HGMD): CYP2E1
Locus Specific Mutation Databases (LSDB): CYP2E1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CYP2E1

DNA2.0 Custom Variant and Variant Library Synthesis for CYP2E1

(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.)
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OMIM gene information: 124040 OMIM disorders: --

18 diseases for CYP2E1:
About MalaCards

alcoholic hepatitis benzene toxicity drug-induced hepatitis cardia cancer

oral cancer alcohol abuse isoniazid toxicity erythropoietic protoporphyria

methemoglobinemia beta thalassemia nonalcoholic steatohepatitis lung cancer

tuberculosis pancreatitis

6 inferred disease relationships from the University of Copenhagen DISEASES database for CYP2E1:

Liver disease Substance abuse Fatty liver disease Esophageal cancer

Lung cancer Hepatocellular carcinoma

Find genes that share disorders with CYP2E1 About GenesLikeMe

Selected Novoseek inferred disease relationships for CYP2E1 gene (see all 83) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
liver diseases alcoholic	75.5	40	9453426 (7), 11410736 (4), 19157621 (4), 9731720 (3) (see all 15)
hepatitis halothane	65.9	7	8794896 (4), 8902272 (2)
liver diseases	58.5	38	12883487 (2), 19307976 (2), 12743671 (2), 16380384 (2) (see all 24)
fatty liver alcoholic	58.2	2	15670659 (1), 14606109 (1)
fatty liver	56.6	13	14606109 (3), 19307976 (2), 12883487 (1), 15554233 (1) (see all 6)
genetic susceptibility	54.9	8	11751440 (1), 19963114 (1), 9829710 (1), 15138035 (1) (see all 7)
alcoholic cirrhosis	54.8	20	19428381 (2), 11748356 (2), 20171022 (2), 9660317 (1) (see all 9)
liver damage	54.6	14	15554233 (2), 9453426 (2), 9248625 (1), 19191768 (1) (see all 9)
alcoholism	53.8	27	7573775 (3), 9660317 (2), 15902904 (2), 9695719 (2) (see all 12)
cancer lung	46.2	55	9029171 (4), 7534543 (4), 10209943 (3), 18798003 (3) (see all 29)

Genetic Association Database (GAD): CYP2E1
Human Genome Epidemiology (HuGE) Navigator: CYP2E1 (378 documents)

Export disorders for CYP2E1 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 CYP2E1 gene, integrated from 10 sources (see all 1270):
(articles sorted by number of sources associating them with CYP2E1)

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

Genetic polymorphisms of aldehyde dehydrogenase 2, cytochrome p450 2E1 for liver cancer risk in HCV antibody-positive japanese patients and the variations of CYP2E1 mRNA expression levels in the liver due to its polymorphism. (PubMed id 12940444)^{1, 4, 9} Kato S....Naito Z. (Scand. J. Gastroenterol. 2003)
Interaction of genetic polymorphisms in cytochrome P450 2E1 and glutathione S-transferase M1 to breast cancer in Taiwanese woman without smoking and drinking habits. (PubMed id 16758119)^{1, 4, 9} Wu S.H....Tsai L.Y. (Breast Cancer Res. Treat. 2006)
CYP2E1 mRNA expression, genetic polymorphisms in peripheral blood lymphocytes and liver abnormalities in Chinese VCM-exposed workers. (PubMed id 18715838)^{1, 4, 9} Wang A.H....Xia Z.L. (Int J Occup Med Environ Health 2008)
[Associations of Rsa I polymorphism at the 5' flanking region of CYP2E1 and PON2 148 polymorphism in neonates with preterm delivery]. (PubMed id 12939804)^{1, 4, 9} Wu B.Y....Xu X.P. (Yi Chuan Xue Bao 2003)
[Association of CYP2E1 of PON2311 polymorphisms in neonates with preterm]. (PubMed id 12561466)^{1, 4, 9} Liang H.Y....Xu X.P. (Yi Chuan Xue Bao 2002)
Genetic polymorphisms in cytochrome P4502E1, alcohol and aldehyde dehydrogenases and the risk of esophageal squamous cell carcinoma in Gansu Chinese males. (PubMed id 18322963)^{1, 4, 9} Guo Y.M....Guo Q.H. (World J. Gastroenterol. 2008)
Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. (PubMed id 17950035)^{1, 4, 9} Cho H.J....Lee S.Y. (Tuberculosis (Edinb) 2007)
Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis. (PubMed id 12668988)^{1, 4, 9} Huang Y.S....Lee S.D. (Hepatology 2003)
Genetic repeat polymorphism in the regulating region of CYP2E1: frequency and relationship with enzymatic activity in alcoholics. (PubMed id 11410713)^{1, 4, 9} Plee-Gautier E....Lucas D. (Alcohol. Clin. Exp. Res. 2001)
Expression of cytochrome P4502E1 in human liver: Relationship between genotype and phenotype in Chinese. (PubMed id 18726416)^{1, 4, 9} Tan W....Lin D. (Sci. China, C, Life Sci. 2001)

(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: 1571	HGNC: 2631	AceView: CYP2E1	Ensembl:ENSG00000130649	euGenes: HUgn1571
ECgene: CYP2E1	Kegg: 1571	H-InvDB: CYP2E1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP2E1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CYP2E1	Genetics and Cytogenetics in Oncology and Haematology
Cytochrome P450 Allele Nomenclature Committee	http://www.cypalleles.ki.se/cyp2e1.htm
Wikipedia	http://en.wikipedia.org/wiki/CYP2E1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp2e1/

Intellectual Property for CYP2E1 gene
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Patent Information for CYP2E1 gene:
Search GeneIP for patents involving CYP2E1

GeneCards and IP:
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CYP2E1 Gene

Cytochrome P450, Family 2, Subfamily E, Polypeptide 1

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CYP2E1 Gene

Cytochrome P450, Family 2, Subfamily E, Polypeptide 1

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