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CYP2E1 Gene(Protein Coding)

Cytochrome P450 Family 2 Subfamily E Member 1

GCID:
GC10P133520
GIFtS:
55
Genes Participants
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Aliases for CYP2E1 Gene

Aliases for CYP2E1 Gene

  • Cytochrome P450 Family 2 Subfamily E Member 1 2 3 5
  • Cytochrome P450, Subfamily IIE (Ethanol-Inducible), Polypeptide 1 2 3
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 1 2 3
  • 4-Nitrophenol 2-Hydroxylase 3 4
  • Cytochrome P450-J 3 4
  • CYPIIE1 3 4
  • CYP2E 3 4
  • Flavoprotein-Linked Monooxygenase 3
  • Microsomal Monooxygenase 3
  • Xenobiotic Monooxygenase 3
  • Cytochrome P450 2E1 3
  • EC 1.14.13.n7 4
  • EC 1.14.14.1 56
  • EC 1.14.13.- 4
  • P450C2E 3
  • P450-J 3
  • CPE1 3

External Ids for CYP2E1 Gene

Previous HGNC Symbols for CYP2E1 Gene

  • CYP2E

Previous GeneCards Identifiers for CYP2E1 Gene

  • GC10P134255
  • GC10P134470
  • GC10P135256
  • GC10P134814
  • GC10P135229
  • GC10P135352
  • GC10P128882

Summaries for CYP2E1 Gene

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 Member 1) is a Protein Coding gene. Diseases associated with CYP2E1 include Alcohol Abuse and Fatty Liver Disease. Among its related pathways are Caffeine Pathway, Pharmacokinetics and Acetaminophen Pathway (therapeutic doses), Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include enzyme binding and iron ion binding. An important paralog of this gene is CYP2C9.

UniProtKB/Swiss-Prot for CYP2E1 Gene

  • 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 Gene

Additional gene information for CYP2E1 Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2E1 Gene

Genomics for CYP2E1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CYP2E1 Gene

Promoters and enhancers for CYP2E1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10I133520 Promoter/Enhancer 1.5 Ensembl ENCODE 561 0.0 -5 0.8 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 ZNF143 ZNF548 KLF13 CYP2E1 ENSG00000235245 TUBGCP2 LOC105378575 SCART1
GH10I133528 Promoter 0.9 EPDnew 550.4 +6.9 6938 0.1 RXRA TAF1 MAX REST NR2F2 GABPA YY1 JUND ATF3 HNF4G ENSG00000278518 CYP2E1 PAOX
GH10I133318 Enhancer 1.2 Ensembl ENCODE 5.1 -201.7 -201724 1 HDGF PKNOX1 ARID4B SIN3A GLI4 ZNF2 ZNF48 GLIS2 ZNF213 ZNF143 CYP2E1 GC10M133326 TUBGCP2 ZNF511-PRAP1
GH10I133516 Enhancer 0.4 FANTOM5 13.2 -3.9 -3936 0.4 TEAD1 TEAD3 CYP2E1 SYCE1 LOC105378575 SCART1
GH10I133529 Enhancer 0.7 FANTOM5 4.1 +8.9 8892 0.1 NRF1 MAX ZNF148 KLF16 POLR2A NR2C1 MYC WT1 ZBTB17 EZH2 ENSG00000278518 PRAP1 CYP2E1 FUOM ECHS1 KNDC1 PIR52458
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP2E1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP2E1 gene promoter:

Genomic Locations for CYP2E1 Gene

Genomic Locations for CYP2E1 Gene
chr10:133,520,406-133,561,220
(GRCh38/hg38)
Size:
40,815 bases
Orientation:
Plus strand
chr10:135,333,910-135,374,724
(GRCh37/hg19)

Genomic View for CYP2E1 Gene

Genes around CYP2E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2E1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP2E1 Gene

Proteins for CYP2E1 Gene

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  • Protein details for CYP2E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05181-CP2E1_HUMAN
    Recommended name:
    Cytochrome P450 2E1
    Protein Accession:
    P05181
    Secondary Accessions:
    • Q5VZD5
    • Q6NWT9
    • Q9UK47

    Protein attributes for CYP2E1 Gene

    Size:
    493 amino acids
    Molecular mass:
    56849 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP2E1 Gene

neXtProt entry for CYP2E1 Gene

Protein Expression for CYP2E1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CYP2E1 Gene

P05181:
  • EIDRVIG
  • LFFAGTET
  • PFSTGKR
  • VDPKDID
  • GEGLARME
  • TTSTTLRY
  • AGTETTS

Post-translational modifications for CYP2E1 Gene

No Post-translational modifications

Other Protein References for CYP2E1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP2E1 Gene

Gene Families for CYP2E1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CYP2E1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP2E1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05181

UniProtKB/Swiss-Prot:

CP2E1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2E1: view

Function for CYP2E1 Gene

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  2. CRISPR
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  4. Inhibitory RNA
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  6. Cell Line

Molecular function for CYP2E1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4-nitrophenol + NADPH + O(2) = 4-nitrocatechol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By ethanol and isoniazid.

Enzyme Numbers (IUBMB) for CYP2E1 Gene

Phenotypes From GWAS Catalog for CYP2E1 Gene

Gene Ontology (GO) - Molecular Function for CYP2E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IDA,TAS 19651758
GO:0005506 iron ion binding IEA --
GO:0008392 arachidonic acid epoxygenase activity IBA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IDA 16401082
genes like me logo Genes that share ontologies with CYP2E1: view
genes like me logo Genes that share phenotypes with CYP2E1: view

Animal Models for CYP2E1 Gene

MGI Knock Outs for CYP2E1:

Animal Model Products

CRISPR Products

miRNA for CYP2E1 Gene

miRTarBase miRNAs that target CYP2E1

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYP2E1 Gene

Localization for CYP2E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP2E1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2E1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 4
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for CYP2E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CYP2E1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP2E1 Gene

Pathways & Interactions for CYP2E1 Gene

genes like me logo Genes that share pathways with CYP2E1: view

Gene Ontology (GO) - Biological Process for CYP2E1 Gene

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 --
genes like me logo Genes that share ontologies with CYP2E1: view

No data available for SIGNOR curated interactions for CYP2E1 Gene

Drugs & Compounds for CYP2E1 Gene

Products:

  1. Drug

(237) Drugs for CYP2E1 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorzoxazone Approved Pharma Agonist, Activator, Enzyme, substrate, inhibitor 7
Ethanol Approved Pharma Enzyme, substrate, inhibitor, inducer 2326
Sevoflurane Approved, Vet_approved Pharma Enzyme, substrate 556
Theophylline Approved Pharma Antagonist, Enzyme, substrate 67
Citalopram Approved Pharma Enzyme, substrate 526

(115) Additional Compounds for CYP2E1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
Paraxanthine
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
 611-59-6
11,12,15-THETA
  • 11,12,15-TriHETRE
  • 11,12,15-Trihydroxyicosatrienoate
  • 11,12,15-Trihydroxyicosatrienoic acid
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoate
  • 11,12,15S-Trihydroxy-5Z,8Z,13E-eicosatrienoic acid
11,12-Epoxyeicosatrienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyeicosa-5,8,14-trienoic acid
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoate
  • (5Z,8Z,14Z)-11,12-Epoxyicosa-5,8,14-trienoic acid
  • 10-(3-(2-Octenyl)oxiranyl)-5,8-Decadienoate
 81276-02-0
11,14,15-THETA
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoate
  • (5Z,8Z,12E)-11,14,15-Trihydroxyicosa-5,8,12-trienoic acid
  • 11,14,15-Trihydroxy-5Z,8Z,12E-eicosatrienoate

(2) ApexBio Compounds for CYP2E1 Gene

Compound Action Cas Number
3-Cyano-7-ethoxycoumarin 117620-77-6
Chlorzoxazone 95-25-0
genes like me logo Genes that share compounds with CYP2E1: view

Drug Products

Transcripts for CYP2E1 Gene

Products:

  1. CRISPR
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  3. Inhibitory RNA
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mRNA/cDNA for CYP2E1 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(154) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP2E1 Gene

Cytochrome P450, family 2, subfamily E, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2E1 Gene

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:
SP6: -
SP7:
SP8:

Relevant External Links for CYP2E1 Gene

GeneLoc Exon Structure for
CYP2E1
ECgene alternative splicing isoforms for
CYP2E1

Expression for CYP2E1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP2E1 Gene

mRNA expression in normal human tissues for CYP2E1 Gene
mRNA expression by GTEx for CYP2E1 GenemRNA expression by BioGPS for CYP2E1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP2E1 Gene

This gene is overexpressed in Liver (x50.7).

Protein differential expression in normal tissues from HIPED for CYP2E1 Gene

This gene is overexpressed in Gallbladder (38.9) and Liver (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP2E1 Gene



Protein tissue co-expression partners for CYP2E1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP2E1 Gene:

CYP2E1

SOURCE GeneReport for Unigene cluster for CYP2E1 Gene:

Hs.12907

Evidence on tissue expression from TISSUES for CYP2E1 Gene

  • Liver(5)
  • Nervous system(4.6)
  • Blood(2.5)
  • Lung(2.4)
  • Kidney(2.3)
  • Urine(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with CYP2E1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2E1 Gene

Orthologs for CYP2E1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CYP2E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LOC450857 33
  • 99 (n)
CYP2E1 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CYP2E1 33 34
  • 80.73 (n)
rat
(Rattus norvegicus)
 Mammalia Cyp2e1 33
  • 80.05 (n)
dog
(Canis familiaris)
 Mammalia CYP2E1 33 34
  • 79.99 (n)
mouse
(Mus musculus)
 Mammalia Cyp2e1 33 16 34
  • 79.45 (n)
oppossum
(Monodelphis domestica)
 Mammalia CYP2E1 34
  • 67 (a)
 OneToOne
Species where no ortholog for CYP2E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CYP2E1 Gene

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

Paralogs for CYP2E1 Gene

Variants for CYP2E1 Gene

Sequence variations from dbSNP and Humsavar for CYP2E1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs2031920 other, CYP2E1*5B ALLELE 133,526,341(+) C/T upstream_transcript_variant
rs3813867 other, CYP2E1*5B ALLELE 133,526,101(+) G/A/C upstream_transcript_variant
rs6413432 association, CYP2E1*6 ALLELE 133,535,040(+) T/A intron_variant
rs2515641 benign, not specified 133,537,858(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs915909 benign, not specified 133,533,893(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP2E1 Gene

Variant ID Type Subtype PubMed ID
dgv1000n100 CNV gain 25217958
dgv1001n100 CNV gain 25217958
dgv1003n100 CNV gain+loss 25217958
dgv1004n100 CNV loss 25217958
dgv1005n100 CNV gain 25217958
dgv1006n100 CNV gain 25217958
dgv1007n100 CNV gain 25217958
dgv123n27 CNV gain 19166990
dgv125n27 CNV gain 19166990
dgv126n27 CNV gain 19166990
dgv127n27 CNV gain 19166990
dgv128n27 CNV gain 19166990
dgv129n27 CNV gain 19166990
dgv1486n54 CNV gain 21841781
dgv1487n54 CNV gain 21841781
dgv1492n54 CNV loss 21841781
dgv1493n54 CNV gain 21841781
dgv1494n54 CNV gain+loss 21841781
dgv1495n54 CNV gain 21841781
dgv1496n54 CNV gain 21841781
dgv172e214 CNV gain 21293372
dgv174e214 CNV gain 21293372
dgv181e199 CNV deletion 23128226
dgv304e212 CNV gain 25503493
dgv35e55 CNV gain 17911159
dgv36e55 CNV gain 17911159
dgv37e55 CNV gain 17911159
dgv8n64 CNV gain 17921354
dgv999n100 CNV gain 25217958
esv2421904 CNV duplication 20811451
esv2750853 CNV gain 17911159
esv2750875 CNV loss 17911159
esv2759793 CNV gain+loss 17122850
esv2760130 CNV gain+loss 21179565
esv2764146 CNV gain+loss 21179565
esv28562 CNV gain+loss 19812545
esv33719 CNV gain 17666407
esv3378553 CNV duplication 20981092
esv3415226 CNV duplication 20981092
esv3579239 CNV loss 25503493
esv3625046 CNV loss 21293372
esv3625052 CNV loss 21293372
esv3891902 CNV gain+loss 25118596
esv3891903 CNV gain 25118596
nsv1037025 CNV loss 25217958
nsv1043323 CNV gain 25217958
nsv1052904 CNV gain 25217958
nsv1075825 CNV duplication 25765185
nsv1159789 CNV duplication 26073780
nsv428243 CNV gain 18775914
nsv436819 CNV insertion 17901297
nsv442594 CNV gain 18776908
nsv469597 CNV gain 16826518
nsv470981 CNV gain 18288195
nsv482150 CNV gain 20164927
nsv498746 CNV loss 21111241
nsv514545 CNV gain 21397061
nsv517180 CNV gain+loss 19592680
nsv528260 CNV loss 19592680
nsv552589 CNV gain 21841781
nsv552713 CNV gain 21841781
nsv552721 CNV gain 21841781
nsv552722 CNV loss 21841781
nsv552724 CNV gain 21841781
nsv552725 CNV gain 21841781
nsv552726 CNV gain 21841781
nsv552727 CNV gain 21841781
nsv552729 CNV gain 21841781
nsv7631 CNV deletion 18451855
nsv818790 CNV gain 17921354
nsv819137 CNV loss 19587683
nsv832041 CNV gain 17160897
nsv832042 CNV gain 17160897
nsv8752 CNV gain+loss 18304495

Variation tolerance for CYP2E1 Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP2E1 Gene

Human Gene Mutation Database (HGMD)
CYP2E1
The Human Cytochrome P450 Allele Nomenclature Database
CYP2E1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2E1 Gene

Disorders for CYP2E1 Gene

MalaCards: The human disease database

(23) MalaCards diseases for CYP2E1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alcohol abuse
  • alcoholism
fatty liver disease
  • steatosis of liver
alcoholic liver cirrhosis
  • alcoholic cirrhosis
acetaminophen metabolism
halothane hepatitis
  • hepatitis halothane
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP2E1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP2E1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP2E1 Gene

Publications for CYP2E1 Gene

  1. Effect of combined genetic polymorphisms on lung cancer risk in northern Thai women. (PMID: 19963114) Klinchid J … Cressey R (Cancer genetics and cytogenetics 2009) 3 22 44 58
  2. Genetic variations of NAT2 and CYP2E1 and isoniazid hepatotoxicity in a diverse population. (PMID: 19761367) Yamada S … Marra F (Pharmacogenomics 2009) 3 22 44 58
  3. Polymorphism in cytochrome P450 2E1 and interaction with other genetic risk factors and susceptibility to alcoholic liver cirrhosis. (PMID: 19428381) Khan AJ … Parmar D (Mutation research 2009) 3 22 44 58
  4. Cytochrome P450 2E1 gene polymorphisms/haplotypes and Parkinson's disease in a Swedish population. (PMID: 19381774) Shahabi HN … Nissbrandt H (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 22 44 58
  5. Comparison of genetic polymorphisms of CYP2E1, ADH2, and ALDH2 genes involved in alcohol metabolism in Koreans and four other ethnic groups. (PMID: 19250143) Kang TS … Roh J (Journal of clinical pharmacy and therapeutics 2009) 3 22 44 58

Products for CYP2E1 Gene

Sources for CYP2E1 Gene

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