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
N-acetyltransferase 2 (arylamine N-acetyltransferase)LO000311FNAT28p22
Synonyms: AAC2 ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   PubMed citaion   GenBank sequence    Arylamine N-Acetyltransferase Nomenclature   PharmGKB Gene Information   
References: See References
Locus Description: NAT2 encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2), which acetylates isoniazid, sulfamethazine, dapsone and arylamine carcinogens. Human arylamine N-acetyltransferase 2 is a drug-metabolizing enzyme and is found in liver (Jenne, 1965) and intestinal epithelium (Hickman et al., 1998) [PubMed ID: 9577349]. The NAT2 locus is intronless and spans 870 bp. (Blum et al., 1990) [PubMed ID: 2340091]. Blum et al. (1990) assigned NAT2 locus to chromosome 8pter-q11 by using rodent-human somatic cell hybrids. Hickman et al. (1994) [PubMed ID: 8110178] further refined the location to 8p23.1-p21.3 by fluorescence in situ hybridization. The NAT2 locus is highly polymorphic and more than 20 alleles have been reported (Hein et al., 2000) [PubMed ID: 10862519]. A well-established polymorphic marker, D8S21, is within the NAT2 locus (Matas et al., 1997) [PubMed ID: 9284941]. For more up to date genetic, structural, and functional studies for NAT and NAT2 loci, please see review article by Sim et al. (2000) [PubMed ID: 11005799].
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
rs4646267rs4646267   1824791350
rs1390358rs1390358   1825275550
rs1112005rs1112005   1825587650
rs7832071rs7832071   1825728051
Arg64Glnrs1801279   1825770411
Tyr94Tyrrs1041983   182577956
Ile114Thrrs1801280   1825785411
Leu135Valrs12720065   182579166
Leu161Leurs1799929   182579946
Arg197Glnrs1799930   1825810311
Pro228Leurs45518335   182581966
Val280Metrs56393504    182583516
Gly286Glurs1799931   1825837012
rs4646247rs4646247   1825890850
rs4646249rs4646249   1826043151
rs1390359rs1390359   1826132951
rs4646257rs4646257   1826254650
Lys268Argrs1208   1830259658
BamHIrs1799931   1830265042

References:
- Goddard KA, Hopkins PJ, Hall JM, Witte JS. "Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations ". Am. J. Hum. Genet. 66:216-234. (2000) Online citation.

- Hein DW, Grant DM, Sim E. "Update on consensus arylamine N-acetyltransferase gene nomenclature". Pharmacogenetics 10:291-2. (2000) Online citation.

- Hickman D, Pope J, Patil SD, Fakis G, Smelt V, Stanley LA, Payton M, Unadkat JD, Sim E. "Expression of arylamine N-acetyltransferase in human intestine". Gut 42:402-9. (1998) Online citation.

- Hickman D, Risch A, Buckle V, Spurr NK, Jeremiah SJ, McCarthy A, Sim E. "Chromosomal localization of human genes for arylamine N-acetyltransferase". Biochem, J. 297:441-5. (1994) Online citation.

- Jenne JW. "Partial purification and properties of the isoniazid transacetylase in human liver: its relationship to the acetylation of p-amino-salicylic acid". J. Clin. Invest. 44:1992-2002. (1965)

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Matas N, Thygesen P, Stacey M, Risch A, Sim E. "Mapping AAC1, AAC2 and AACP, the genes for arylamine N-acetyltransferases, carcinogen metabolising enzymes on human chromosome 8p22, a region frequently deleted in tumours". Cytogenet. Cell Genet. 77:290-5. (1997) Online citation.

- Sim E, Payton M, Noble M, Minchin R. "An update on genetic, structural and functional studies of arylamine N-acetyltransferases in eucaryotes and procaryotes". Hum. Mol. Genet. 9:2435-41. (2000) Online citation.

Top

© 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