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CYP2E1

From SNPedia

is agene
is mentioned by
Full namecytochrome P450, family 2, subfamily E, polypeptide 1
EntrezGene1571
PheGenI1571
VariationViewer1571
ClinVarCYP2E1
GeneCardsCYP2E1
dbSNP1571
SADR1571
HugeNav1571
CYPANCcyp2e1
wikipediaCYP2E1
googleCYP2E1
gopubmedCYP2E1
EVSCYP2E1
HEFalMpCYP2E1
MyGene2CYP2E1
23andMeCYP2E1
UniProtP05181
EnsemblENSG00000130649
OMIM124040
# SNPs25
 Max MagnitudeChromosome positionSummary
rs1329149133,536,297
rs20319200133,526,341
rs20706722133,527,044
rs20706730133,527,063
rs20706762133,537,633
rs2249694133,538,649
rs2249695133,538,664
rs2480256133,539,010
rs25156412133,537,858
rs2515644133,539,575
rs38138650133,525,740
rs38138670133,526,101
rs46469760133,534,223
rs558976480133,537,760
rs64134190133,532,171
rs64134200133,527,325
rs6413432133,535,040
rs725597100133,528,530
rs743535133,535,863
rs8192772133,531,207
rs8192775133,534,522
rs8192780133,540,621
rs915906133,530,234
rs9159080133,533,455
rs9159090133,533,893
CYP2E1 encodes a member of the cytochrome P450 superfamily of enzymes involved in drug metabolism. CYP2E1 is induced by ethanol, the diabetic state, and starvation. It metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including various anaesthetics, paracetamol, benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke.Wikipedia

While a fair number of CYP2E1 variants have been described, their impact on CYP2E1 activity remains mostly un- or at least under-described. Individuals carrying the *1 alleles and functional alleles in general are considered extensive metabolizers (EMs); some individuals are poor metabolizers (PMs) but the variety of genotypes that lead to this phenotype have not all been elucidated.

Furthermore, there are at least two conflicting naming conventions for CYP2E1 alleles. The more commonly used system is based on the "cypalleles" convention, with designations like CYP2E1*1, and CYP2E1*2. However, an extensive 2008 study determined the 16 most common CYP2E1 haplotypes [numbered A to P] for 2,600 individuals for 50 different human populations using 11 markers, and it was not possible to readily correlate these haplotypes with those from the "cypalleles" system. Note that 1 of the 11 CYP2E1 markers was a VNTR and not a SNP per se, leading to ambiguity when genosets are determined by promethease from most microarray platforms.

Therefore, both systems will be outlined here. Readers with knowledge of functional activity per allele, per haplotype, or per genotype are requested to either add the information to this page or to email it (info@snpedia.com) to SNPedia staff.


Using the "cypalleles" nomenclature:

Allele Name Rs# Comments Platforms
CYP2E1*1A n/a the canonical wild-type in this nomenclature
CYP2E1*1B rs2070676 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
CYP2E1*2 rs72559710 also known as R76H (or, R76R)
CYP2E1*3 rs55897648 also known as V389I 23andMe v3, 23andMe v4, Ancestry v2
CYP2E1*4 rs6413419 also known as V179I 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, FamilyTreeDNA, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1*7_-333T>A rs2070673 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1*7_-352A>G rs2070672 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1*7_-71G>T rs6413420 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1_10463T>C(F421F) rs2515641 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1_-1055C>T rs2031920 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
CYP2E1_-1295G>C rs3813867 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4, Ancestry v2
CYP2E1_6498C>T(I321I) rs915909 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, 23andMe v4


SNPs used in the determination of the 16 most common haplotypes worldwide:

Marker # Rs# Comments Platforms
2 rs3813867 5' upstream 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, 23andMe v4, Ancestry v2
3 rs2031920 5' upstream 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
4 rs2070672 5' upstream 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
5 rs6413420 5' upstream 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
6 rs6413419 also known as V179I; in exon 4 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, FamilyTreeDNA, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2
7 rs915909 also known as I321I; in exon 6 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, 23andMe v4
8 rs4646976 in intron 6 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
9 rs6413432 in intron 6
10 rs2070676 in intron 7 23andMe v1, 23andMe v2, 23andMe v3, Affy GenomeWide 6, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4
11 rs2515641 also known as F421F; in exon 8 23andMe v1, 23andMe v2, 23andMe v3, FTDNA2, HumanOmni1Quad, Illumina Human 1M, 23andMe v4, Ancestry v2