CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

2003-06-01  

Identity

HGNC
LOCATION
10q26.3
LOCUSID
ALIAS
CPE1,CYP2E,P450-J,P450C2E

Other Information

Locus ID:

NCBI: 1571
MIM: 124040
HGNC: 2631
Ensembl: ENSG00000130649

Variants:

dbSNP: 1571
ClinVar: 1571
TCGA: ENSG00000130649
COSMIC: CYP2E1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130649ENST00000252945P05181
ENSG00000130649ENST00000418356H0Y593
ENSG00000130649ENST00000421586H0Y7H4
ENSG00000130649ENST00000463117P05181
ENSG00000130649ENST00000541080H0YGV5
ENSG00000130649ENST00000541261F5H694

Expression (GTEx)

0
500
1000
1500
2000
2500
3000

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Arachidonic acid metabolismKEGGko00590
Linoleic acid metabolismKEGGko00591
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Drug metabolism - cytochrome P450KEGGko00982
Steroid hormone biosynthesisKEGGhsa00140
Arachidonic acid metabolismKEGGhsa00590
Linoleic acid metabolismKEGGhsa00591
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Drug metabolism - cytochrome P450KEGGhsa00982
Metabolic pathwaysKEGGhsa01100
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
XenobioticsREACTOMER-HSA-211981
CYP2E1 reactionsREACTOMER-HSA-211999

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10075esomeprazoleChemicalLabelAnnotationassociated
PA164712708Drugs For Treatment Of TuberculosisChemicalClinicalAnnotation, VariantAnnotationambiguousPKPD12668988, 16677176, 16770646, 18713495, 19761367, 19891553, 20819434, 20860460, 21753138, 22012226, 22335459, 22506592, 23394127, 23875638, 24637014, 28799976
PA164722867MIR570GeneMultilinkAnnotationassociated26199425
PA164749431gemtuzumab ozogamicinChemicalClinicalAnnotationassociatedPD22584460
PA164749650pyridoxal phosphateChemicalVariantAnnotationassociatedPD16770646
PA164925725Toxic liver diseaseDiseaseVariantAnnotation, VipGeneambiguousPD16677176, 16770646, 18713495, 19761367, 24637014
PA165948032CYP2E1*1AHaplotypeVipGeneassociated18713495, 20860460, 3233219, 16770646
PA165948033CYP2E1*1BHaplotypeVipGeneassociated
PA165948039CYP2E1*5AHaplotypeVipGeneassociated8096192, 1778977
PA165948040CYP2E1*5BHaplotypeVipGeneassociated8096192, 1778977
PA165948041CYP2E1*6HaplotypeVipGeneassociated16677176, 21261721, 22188361, 22335459, 22485222, 8096192, 12771559
PA166119041drug-induced liver injuryDiseaseVipGeneassociated19761367
PA166153990rs2031920VariantVipGeneassociated8096192, 1778977
PA166153994rs2070676VariantVipGeneassociated
PA166154041rs3813867VariantVipGeneassociated8096192, 1778977
PA166154073rs6413432VariantVipGeneassociated16677176, 1778977, 21261721, 22188361, 22335459, 22485222, 8096192, 12771559
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD15902904, 25514903, 29588096
PA443937Drug ToxicityDiseaseVipGeneassociated19761367
PA444442Hepatitis, ToxicDiseaseVariantAnnotationnot associatedPD20860460
PA444760Leukemia, Myeloid, AcuteDiseaseClinicalAnnotationassociatedPD22584460
PA444802Liver Diseases, AlcoholicDiseaseVariantAnnotationassociatedPK8659683
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD22188361
PA445941TuberculosisDiseaseClinicalAnnotation, VariantAnnotationambiguousPKPD12668988, 16677176, 16770646, 18544910, 18713495, 19761367, 19891553, 20819434, 20860460, 21753138, 22012226, 22335459, 22506592, 23394127, 23875638, 24637014, 28799976
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA448015acetaminophenChemicalLiterature, MultilinkAnnotation, Pathway, VariantAnnotation, VipGeneassociatedPK11866476, 18695978, 19219744, 23462933, 26049587, 8659683, 9548799
PA448073ethanolChemicalClinicalAnnotation, PathwayassociatedPD15902904, 25514903, 26049587, 29588096
PA449014cisplatinChemicalClinicalAnnotationassociatedPD22188361
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD22188361
PA449177cytarabineChemicalClinicalAnnotationassociatedPD22584460
PA449655fludarabineChemicalClinicalAnnotationassociatedPD22584460
PA449961idarubicinChemicalClinicalAnnotationassociatedPD22584460
PA450112isoniazidChemicalPathway, VariantAnnotation, VipGeneambiguousPKPD16677176, 16770646, 18544910, 18695978, 26049587
PA451182pyrazinamideChemicalVariantAnnotationnot associatedPD16677176
PA451250rifampinChemicalVariantAnnotationnot associatedPKPD16677176, 18544910
PA451257risperidoneChemicalClinicalAnnotationassociatedPD
PA451647theophyllineChemicalPathwayassociated
PA451954zidovudineChemicalPathwayassociated22960662

References

Pubmed IDYearTitleCitations
117514402001Metabolic gene polymorphism frequencies in control populations.157
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206923312010Chronic alcohol-induced liver injury and oxidant stress are decreased in cytochrome P4502E1 knockout mice and restored in humanized cytochrome P4502E1 knock-in mice.78
126689882003Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis.77
126689882003Cytochrome P450 2E1 genotype and the susceptibility to antituberculosis drug-induced hepatitis.77
126013512003Hepatic cytochrome P450 2E1 activity in nondiabetic patients with nonalcoholic steatohepatitis.76
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
157140762005CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis.64
170070502006Hepatogenic differentiation of human mesenchymal stem cells from adipose tissue in comparison with bone marrow mesenchymal stem cells.59

Citation

Dessen P

CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40248/cyp2e1-(cytochrome-p450-family-2-subfamily-e-member-1)