ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Cytochrome P450, family 2, subfamily E, polypeptide 1	LO000233I	CYP2E1	10	10q26.3

Synonyms: CYP2E ; cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1 ; cytochrome P450, subfamily IIE (ethanol-inducible) ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: The CYP2E gene encodes a member of the cytochrome P450 superfamily of enzymes, which can be grouped into 10 families. The largest (CYP2) consists of 6 subfamilies (CYP2A-F) in humans (Nelson et al., 1993) [PubMed ID: 7678494]. The cytochrome P450 proteins are monooxygenases, which catalyze various carcinogens and many reactions involved in alcohol and drug metabolism and synthesis of cholesterol, steroids and other lipids (Kolble, 1993) [PubMed ID: 8307581]. The CYP2E cDNA was first isolated by Song et al. (1987) [PubMed ID: 3782137] (GenBank accession number: NM_000773). A year later, Umeno et al. (1988) [PubMed ID: 3233219] presented the complete gene sequence (GenBank accession number: J02843). Kolble (1993) [PubMed ID: 8307581] localized the gene to the long arm of chromosome 10 at 10q24.3-qter by using somatic cell hybridization. Several polymorphisms have been studied, such as TaqI (Song et al., 1987 [PubMed ID: 3782137] and McBride et al., 1987 [PubMed ID: 2892165]), PstI and RsaI (Watanabe et al., 1990) [PubMed ID: 1979861], MspI (Uematsu et al., 1991) [PubMed ID: 1719479], and DraI polymorphisms (Uematsu et al., 1992) [PubMed ID: 1363974].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
rs9418990	rs9418990	135187956	87
11-site haplotype		135188828	48
5' upstream VNTR		135188828	48
5-site haplotype		135188828	48
PstI	rs3813867	135189595	48
RsaI	rs2031920	135189835	50
C__15867697_10	rs2070672	135190538	50
C__25594209_10	rs6413420	135190819	83
rs72559710	rs72559710	135192024	1
rs8192772	rs8192772	135194701	86
rs9919378	rs9919378	135195383	86
C__30443971_10	rs6413419	135195665	48
MspI	rs4646976	135197717	49
DraI	rs6413432	135198534	49
rs2864987	rs2864987	135198569	1
rs1329149	rs1329149	135199791	50
TaqI	rs2070676	135201127	53
C__16026002_10	rs2515641	135201352	50
rs2515642	rs2515642	135202003	51
rs2480258	rs2480258	135202090	50
rs1536826	rs1536826	135207229	51
3-site haplotype (PstI, RsaI, MspI)		135339605	32
RsaI/PstI		135339845	0
rs915906	rs915906	135343738	87
4-site haplotype		135345675	48
rs915907	rs915907	135346927	86
rs915908	rs915908	135346959	51
C___7468401_10	rs915909	135347397	48
2-site haplotype		135351137	48

References:
- Kolble K. "Regional mapping of short tandem repeats on human chromosome 10: cytochrome P450 gene CYP2E, D10S196, D10S220, and D10S225". Genomics 18:702-4. (1993) Online citation.

- McBride OW, Umeno M, Gelboin HV, Gonzalez FJ. "A Taq I polymorphism in the human P450IIE1 gene on chromosome 10 (CYP2E)". Nucleic Acids Res. 15:10071. (1987) Online citation.

- Nelson DR, Kamataki T, Waxman DJ, Guengerich FP, Estabrook RW, Feyereisen R, Gonzalez FJ, Coon MJ, Gunsalus IC, Gotoh O, et al. "The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature". DNA Cell Biol. 12:1-51. (1993) Online citation.

- Song BJ, Gelboin HV, Park SS, Yang CS, Gonzalez FJ. "Complementary DNA and protein sequences of ethanol-inducible rat and human cytochrome P-450s. Transcriptional and post-transcriptional regulation of the rat enzyme". J. Biol. Chem. 261:16689-97. (1986) Online citation.

- Uematsu F, Kikuchi H, Abe T, Motomiya M, Ohmachi T, Sagami I, Watanabe M. "MspI polymorphism of the human CYP2E gene". Nucleic Acids Res. 19:5797. (1991) Online citation.

- Uematsu F, Kikuchi H, Motomiya M, Abe T, Ishioka C, Kanamaru R, Sagami I, Watanabe M. "Human cytochrome P450IIE1 gene: DraI polymorphism and susceptibility to cancer". Tohoku J. Exp. Med. 168:113-7. (1992) Online citation.

- Umeno M, McBride OW, Yang CS, Gelboin HV, Gonzalez FJ. "Human ethanol-inducible P450IIE1: complete gene sequence, promoter characterization, chromosome mapping, and cDNA-directed expression". Biochemistry 27:9006-13. (1988) Online citation.

- Watanabe J, Hayashi S, Nakachi K, Imai K, Suda Y, Sekine T, Kawajiri K. "PstI and RsaI RFLPs in complete linkage disequilibrium at the CYP2E gene". Nucleic Acids Res. 18:7194. (1990) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan