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CYP2E1*5B AND CYP2E1*5B ALLELE

Germline classification:
other (1 submission)
Last evaluated:
Apr 20, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000018383.25

Alleles description [Variation Report for CYP2E1*5B]

NM_000773.3(CYP2E1):c.-1295G>C

Genes:
CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
LOC110599585:CYP2E1 5' regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_000773.3(CYP2E1):c.-1295G>C
HGVS:
  • NC_000010.11:g.133526101G>C
  • NG_008383.1:g.3739G>C
  • NG_055447.1:g.2551G>C
  • NC_000010.10:g.135339605G>C
Links:
OMIM: 124040.0001; dbSNP: rs3813867
NCBI 1000 Genomes Browser:
rs3813867

NM_000773.3(CYP2E1):c.-1055C>T

Genes:
CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
LOC110599585:CYP2E1 5' regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
NM_000773.3(CYP2E1):c.-1055C>T
HGVS:
  • NC_000010.11:g.133526341C>T
  • NG_008383.1:g.3979C>T
  • NG_055447.1:g.2791C>T
  • NC_000010.10:g.135339845C>T
Links:
OMIM: 124040.0001; dbSNP: rs2031920
NCBI 1000 Genomes Browser:
rs2031920

Condition(s)

Name:
CYP2E1*5B ALLELE
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038665OMIM
no assertion criteria provided
other
(Apr 20, 2016) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genetic polymorphisms in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIE1 gene.

Hayashi S, Watanabe J, Kawajiri K.

J Biochem. 1991 Oct;110(4):559-65.

PubMed [citation]
PMID:
1778977

Association of genetic polymorphisms of alcohol-metabolizing enzymes with excessive alcohol consumption in Japanese men.

Sun F, Tsuritani I, Honda R, Ma ZY, Yamada Y.

Hum Genet. 1999 Oct;105(4):295-300.

PubMed [citation]
PMID:
10543395
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000038665.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This SNP, combining a -1293G-C transversion (rs3813867) and a -1053C-T transition (rs2031920) in the 5-prime transcriptional regulatory region of the CYP2E1 gene, is referred to as CYP2E1*5B (Wang et al., 2009).

This allele is associated with increased transcription of CYP2E1 (Wang et al., 2009).

Hayashi et al. (1991) described a polymorphism in the 5-prime flanking region of CYP2E, and the alleles were designated c1 (RsaI+) and c2 (RsaI-). Sun et al. (1999) observed that Japanese men with the homozygous ALDH2*1 genotype (see 100650) and the c2 allele of CYP2E were at a higher risk of excessive alcohol consumption.

In a population-based study of 359 unrelated mainland Chinese, consisting of 103 Han, 107 Kazakh, and 149 Uygur individuals, Wang et al. (2009) found that the frequencies of the CYP2E1*5B polymorphism were significantly lower in the Kazakh and Uygur populations (11.2% and 12.1%, respectively) compared to the Han population (19.4%).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024