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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 related diseases
at  

(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 drug-induced hepatitis, and alcoholic hepatitis. 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:
NC_000010.11  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 plasmidCYP2E1 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, 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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    CYP2E1 Antibody Products:

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    CYP2E1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CYP2E1
    Cloud-Clone Corp. CLIAs for CYP2E1


    (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


    CYP2E1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, 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 IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IDA19651758
    GO:0005506iron ion binding IEA--
    GO:0016491oxidoreductase activity IDA16401082
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0016709oxidoreductase 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 TAS18818195
         
    CYP2E1 for ontologies           About GeneDecksing


    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 

    CYP2E1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp2e1tm1Gonz for CYP2E1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP2E1
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    miRNA
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    miRTarBase miRNAs that target CYP2E1:
    hsa-mir-488-3p (MIRT038008), hsa-mir-335-5p (MIRT017817), hsa-mir-132-3p (MIRT021813), hsa-mir-488-5p (MIRT041622)

    Block miRNA regulation of human, mouse, rat CYP2E1 using miScript Target Protectors
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    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CYP2E1 (NM_000773)
    Sino Biological Human cDNA Clone for CYP2E1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP2E1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP2E1

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    In Situ Assay
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    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: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion3
    cytosol2
    extracellular2
    golgi apparatus2
    nucleus2
    peroxisome2
    lysosome1
    plasma membrane1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0031227intrinsic component of endoplasmic reticulum membrane IEA--

    CYP2E1 for ontologies           About GeneDecksing


    (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 22)  
    See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.56
    Acetaminophen metabolism0.00
    metapathway biotransformation0.42
    Phenytoin Pathway, Pharmacokinetics0.00
    Tamoxifen metabolism0.00
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Xenobiotics0.00
    Phase 1 - Functionalization of compounds0.75
    Fatty Acid Omega Oxidation0.00
    cytochrome P4500.74
    CYP2E1 reactions0.00
    3Arachidonic acid metabolism
    Linoleic acid metabolism0.64
    HETE and HPETE biosynthesis and metabolism0.33
    Arachidonic acid metabolism0.41
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5Chemical carcinogenesis
    Chemical carcinogenesis0.71
    Drug metabolism - cytochrome P4500.69
    Metabolism of xenobiotics by cytochrome P4500.71

    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


    CYP2E1 for pathways           About GeneDecksing

        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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMFRQ9UKV53, ENSP000002906494I2D: score=1 STRING: ENSP00000290649
    FANCGO152873, ENSP000003679104I2D: score=1 STRING: ENSP00000367910
    STUB1Q9UNE73, ENSP000002195484I2D: score=1 STRING: ENSP00000219548
    HSPA4P349323, ENSP000003029614I2D: score=1 STRING: ENSP00000302961
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IEA--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process IMP18356043
    GO:0010193response to ozone IEA--
    GO:0010243response to organonitrogen compound IEA--

    CYP2E1 for ontologies           About GeneDecksing



    (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
    CompoundSynonyms CAS #PubMed Ids
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(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-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-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-EETA15-Hydroxy-11,12-epoxyeicosatrienoic acid (see all 9)877878-78-9--
    16(R)-HETE16R-HETE (see all 4)----

    Selected DrugBank Compounds for CYP2E1 (see all 124)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Benzyl alcohol(Hydroxymethyl)benzene (see all 10)100-51-6enzymesubstrate8347164 9065730 9253143 15129551
    ChlorzoxazoneChloroxazone (see all 3)95-25-0enzymesubstrate inhibitor15255802 9890159 9879636
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7enzymesubstrate9103523 19442086 19934256
    TrimethadioneTrimetadione (see all 3)127-48-0enzymesubstrate14651673 9879636 19934256
    AcetaminophenAcetaminofen (see all 5)103-90-2enzymesubstrate11095574 19934256
    CaffeineCafeina (see all 7)58-08-2enzymesubstrate19934256 19515014
    Carvedilol-- 72956-09-3enzymesubstrate19934256 19515014
    Chlorpromazine-- 50-53-3enzymeinhibitor19934256 11996015
    Dapsone1,1'-Sulfonylbis[4-aminobenzene] (see all 8)80-08-0enzymesubstrate19934256 19515014
    DexmedetomidineMedetomidina [Spanish] (see all 3)113775-47-6enzymesubstrate18638298 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)



    CYP2E1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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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)

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector: CYP2E1 (NM_000773)
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP2E1
      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)
    About This Section

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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
    CYP2E1 Expression
    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    About this image

    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
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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 Cyp2e11 , 5 cytochrome P450, family 2, subfamily e, polypeptide more1, 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

    CYP2E1 for paralogs           About GeneDecksing



    (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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    Selected SNPs for CYP2E1 (see all 33)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114455931,2
    C,F--135340866(+) ATTGTC/-CTCCC 1 -- us2k18Minor allele frequency- -:0.04NS NA CSA 196
    rs81927741,2
    C--135347873(+) ACCCTC/TGTCGT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs113687241,2
    C--135347875(+) CCCTT-/C/CG/ 
     CGT
    /GTC
    GTTCC
    3 -- int1 cds11CSA 2
    rs665182031,2
    C--135347876(+) CCTTG-/C/GTC 
            
    TTCCT
    2 -- int1 cds10--------
    rs710164591,2
    C--135348373(+) ATTTA-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs127612341,2
    C,F,A--135349914(+) ATGGAT/CGGACG 1 -- int14Minor allele frequency- C:0.29NA WA CSA 7
    rs618683301,2
    C--135350036(+) GGATGG/TATAGA 1 -- int10--------
    rs1385806731,2
    C--135350036(+) GGATG-/TATA  
            
    GATGG
    1 -- int10--------
    rs1479736061,2
    C--135350490(+) GAATA-/GATG  
     GGTGGAT
    GATGG
    1 -- int10--------
    rs764960081,2
    C--135350491(+) GGATG-/ATGG  
     GTGGATG
    CCCAA
    1 -- int10--------

    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 IDTypeSubtypePubMed ID
    dgv181e199CNV Deletion23128226
    esv2421904CNV Duplication20811451
    nsv436819CNV Insertion17901297
    dgv899n71CNV Loss21882294
    nsv498746CNV Loss21111241
    nsv819137CNV Loss19587683
    esv2750875CNV Loss17911159
    dgv901n71CNV Loss21882294
    nsv528260CNV Loss19592680
    nsv7631CNV Loss18451855

    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: --

    Selected diseases for CYP2E1 (see all 105):    
    About MalaCards
    drug-induced hepatitis    alcoholic hepatitis    benzene toxicity    alcoholic liver cirrhosis
    cardia cancer    alcohol-related birth defect    liver cirrhosis    nonalcoholic steatohepatitis
    alcohol abuse    alcoholic pancreatitis    oral cavity cancer    lung cancer susceptibility
    oral cancer    liver disease    erythropoietic protoporphyria    proctitis
    porphyria cutanea tarda    oral leukoplakia    laryngeal squamous cell carcinoma    fatty liver disease

    6 diseases from the University of Copenhagen DISEASES database for CYP2E1:
    Liver disease     Substance abuse     Fatty liver disease     Esophageal cancer
    Lung cancer     Hepatocellular carcinoma

    CYP2E1 for disorders           About GeneDecksing

    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

    1. 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)
    2. 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)
    3. 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)
    4. [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)
    5. [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)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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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     ANDOR
    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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    NameDescription
    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 Committeehttp://www.cypalleles.ki.se/cyp2e1.htm
    Wikipedia http://en.wikipedia.org/wiki/CYP2E1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp2e1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP2E1 gene:
    Search GeneIP for patents involving CYP2E1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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