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

NameALFRED UIDLocus SymbolChromosomeBand Position
Cytochrome P450, family 2, subfamily D, polypeptide 6 LO000325KCYP2D62222q13.1
Synonyms: cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence    the Human Cytochrome P450 (CYP) Allele Nomenclature Committee   HGMD mutation information   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: This gene encodes cytochrome P450, subfamily IID, polypeptide 6 (which is 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. Cytochrome P450 CYP2D6 is responsible for the metabolism of approximately 20-25% of prescription medicine. Eichelbaum et al. (2001) stated that studies of CYP2D were the first example of cloning and characterization of a human drug metabolizing enzyme that had been shown to have functional genetic polymorphism. The gene is highly polymorphic in the population, with more than 70 allelic variants described so far (Bertilsson et al., 2002). Mutations in the CYP2D6 gene can result in ultra rapid (UM), extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes. Eichelbaum et al.(1987) mapped the CYP2D gene to chromosome 22. Gough et al. (1993) used PCR for analysis of somatic cell hybrids, in situ hybridization, and linkage analysis to map the CYP2D6 gene to 22q13.1. Kimura et al.(1989) isolated and completely sequenced the normal CYP2D6 gene. The gene includes 1,531 and 3,522 bp of 5' and 3' flanking DNA, respectively; and contains nine exons within 4,378 bp.
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-PositionStatus# Populations
typed
rs5758589rs5758589   4251838311
rs764481rs764481   4251842651
Thr486Serrs1135840   4252261342
Val338Metrs59421388   4252361042
rs28371725rs28371725   4252380535
rs5030867rs5030867   425238581
rs16947rs16947   4252394339
rs5030656rs5030656   4252417635
Leu276Leurs28371719   425241914
Pro267Prors28371718   425242184
rs35742686rs35742686   4252424435
Phe219Phers28371713   425247955
rs3892097rs3892097   4252494735
Glu155Lysrs28371710   425250778
rs5030655rs5030655   4252508638
Val136Valrs1058164   4252513238
rs61736512rs61736512   4252513435
Phe112Phers1081003   425257568
Thr107Ilers28371706   4252577242
rs28371702 rs28371702    425259528
rs28371699rs28371699   425264847
rs1081000rs1081000   425265498
rs1080998rs1080998   425265678
rs1080997rs1080997   425265718
rs1080996rs1080996   425265738
rs1080995rs1080995   425265808
Pro34Serrs1065852   4252669444
Arg26Hisrs28371696   425267179
rs28371695rs28371695   425268378
rs1080993rs1080993   425269698
A Ins/Delrs4986774    425379465
SNP108-CYP2D6rs10707653   42540328Now associated with CYP2D7P15
SNP109-CYP2D6   5

References:
- Bertilsson L, Dahl ML, Dalen P, Al-Shurbaji A. "Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs". Br J Clin Pharmacol. 53:111-22. . (2002) Online citation.

- Eichelbaum M, Baur MP, Dengler HJ, Osikowska-Evers BO, Tieves G, Zekorn C, Rittner C. "Chromosomal assignment of human cytochrome P-450 (debrisoquine/sparteine type) to chromosome 22". Br J Clin Pharmacol. 23:455-8. . (1987) Online citation.

- Gough AC, Smith CA, Howell SM, Wolf CR, Bryant SP, Spurr NK. "Localization of the CYP2D gene locus to human chromosome 22q13.1 by polymerase chain reaction, in situ hybridization, and linkage analysis". Genomics 15:430-2. . (1993) Online citation.

- Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. "The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. ". Am J Hum Genet. 45:889-904. (1989) 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