Cytochrome P450, Subfamily IIE

Alternative Names

  • CYP2E1
  • P450C2E
  • Ethanol-InducibleN P450
Back to search Result
OMIM Number

124040

NCBI Gene ID

1571

Uniprot ID

P05181

Length

40,815 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Cytochrome P450 2E1

Molecular Mass

56849 Da

Amino Acid Count

493

Genomic Location

chr10:133,520,406-133,561,220

Gene Map Locus
10q26.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
CYP2E1*5B Allele NM_000773.3:c.[-1295G>C;-1055C>T]LebanonNC_000010.11:g.[133526101G>A;133526341C>T]Benign, Protective, Risk factor, Uncertain SignificanceBladder Cancer; Breast Cancer; Coronary Heart Disease, Susceptibility to, 1NG_008383.1:g.[3739G>A;3979C>T]; NM_000773.3:c.[-1295G>C;-1055C>T]3813867 203192016887
CYP2E1*6 Allele NM_000773.4:c.967+1143T>ALebanonNC_000010.11:g.133535040T>AAssociationBenign, Drug Response, Protective, Uncertain SignificanceBreast Cancer; Colorectal Cancer; Coronary Heart Disease, Susceptibility to, 1; Gastric CancerNG_008383.1:g.12678T>A; NM_000773.4:c.967+1143T>A641343216888
NM_000773.3:c.-1295G>CLebanonNC_000010.11:g.133526101G>CDrug ResponseNG_008383.1:g.3739G>C; NM_000773.3:c.-1295G>C3813867132775

Other Reports

Lebanon

Basma et al. 2013 studied polymorphisms in genes encoding drug-metabolizing enzymes (DMEs) such as Cytochrome P450 2E1 (CYP2E1), NAD(P)H quinone oxidoreductase1 (NQO1), and N-Acetyltransferase1 (NAT1) and their influence on bladder cancer risk among Lebanese men. 50 unrelated men, below the age of 50 years with histologically confirmed bladder cancer, and 106 controls were included in the study. Significant clustering of CYP2E1 c1/c1 and NAT1*14A were seen in bladder cancer patients compared to controls. NAT1*14A allele, smoking, and occupational exposure to combustion fumes were observed to significantly contribute to the risk of developing bladder cancer. Although not statistically significant, CY2E1 c1/c1 genotype and prostate related symptoms were also found to be risk factors for bladder cancer.

Darazy et al. 2011 studied the correlation between CYP1A1, CYP2E1, and GSTM1 gene polymorphisms and gastrointestinal cancer incidence among Lebanese subjects. Genotyping for CYP1A1*2A allele, CYP2E1*6 allele, and GSTM1 gene deletion was carried out in 70 patients with histologically confirmed colorectal cancer or gastric cancer, and 70 age and sex matched healthy controls. Significantly higher percentage of patients were homozygous for the GSTM1 deletion polymorphism (GSTM1*0/*0) indicating an association with increased risk of colorectal cancer, gastric cancer, and in general gastrointestinal cancer. Study also indicated a 36.5-fold increase in the risk of gastric cancer among patients with both CYP1A1*2A/*2A and GSTM1*0/*0 genotypes. No significant difference was observed in the distribution of CYP2E1 genotypes among patients or controls.

© CAGS 2024. All rights reserved.