N-Acetyltransferase 2

Alternative Names

  • Nat2
  • Arylamide Acetylase 2
  • Aac2
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OMIM Number

612182

NCBI Gene ID

10

Uniprot ID

P11245

Length

14,635 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Arylamine N-acetyltransferase 2

Molecular Mass

33542 Da

Amino Acid Count

290

Genomic Location

chr8:18,386,584-18,401,218

Gene Map Locus
8p22

Description

This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NAT2*14BUnited Arab EmiratesNC_000008.11:g.[18400194G>A;18400285C>T]Drug ResponseAcetylation, SlowNG_012246.1:g.[13950G>A;14041C>T]; NM_000015.3:c.[191G>A;282C>T]; NP_000006.2:p.[Arg64Gln;Tyr94=]1801279 1041983
NAT2*4United Arab EmiratesDrug ResponseAcetylation, SlowNAT2*4
NAT2*5AUnited Arab EmiratesNC_000008.11:g.[18400344T>C;18400484C>T]Drug ResponseAcetylation, SlowNG_012246.1:g.[14100T>C;14240C>T]; NM_000015.3:c.[341T>C;481C>T]; NP_000006.2:p.[Ile114Thr;Leu161=]1801280 1799929
NAT2*5BUnited Arab EmiratesNC_000008.11:g.[18400344T>C;18400484C>T;18400806G=]Drug ResponseAcetylation, SlowNG_012246.1:g.[14100T>C;14240C>T;14562G=]; NM_000015.3:c.[341T>C;481C>T;803G=]; NP_000006.2:p.[Ile114Thr;Leu161=;Arg268=]1801280 1799929 1208
NAT2*5CUnited Arab EmiratesNC_000008.11:g.[18400344T>C;18400806G=]Drug ResponseAcetylation, SlowNG_012246.1:g.[14100T>C;14562G=]; NM_000015.3:c.[341T>C;803G=]; NP_000006.2:p.[Ile114Thr;Arg268=]1801280 1208
NAT2*5DUnited Arab EmiratesNC_000008.11:g.18400344T>CDrug ResponseAcetylation, SlowNG_012246.1:g.14100T>C; NM_000015.3:c.341T>C; NP_000006.2:p.Ile114Thr1801280
NAT2*5UUnited Arab EmiratesNC_000008.11:g.[18400285C>T;18400344T>C;18400484C>T;18400593G>A;18400806G=]Drug ResponseAcetylation, SlowNG_012246.1:g.[14041C>T;14100T>C;14240C>T;14349G>A;14562G=]; NM_000015.3:c.[282C>T;341T>C;481C>T;590G>A;803G=]; NP_000006.2:p.[Tyr94=;Ile114Thr;Leu161=;Arg197Gln;Arg268=]1041983 1801280 1799929 1799930 1208
NAT2*6AUnited Arab EmiratesNC_000008.11:g.[18400285C>T;18400593G>A]Drug ResponseAcetylation, SlowNG_012246.1:g.[14041C>T;14349G>A]; NM_000015.3:c.[282C>T;590G>A]; NP_000006.2:p.[Tyr94=;Arg197Gln]1041983 1799930
NAT2*6CUnited Arab EmiratesNC_000008.11:g.[18400285C>T;18400593G>A;18400806G=]Drug ResponseAcetylation, SlowNG_012246.1:g.[14041C>T;14349G>A;14562G=]; NM_000015.3:c.[282C>T;590G>A;803G=]; NP_000006.2:p.[Tyr94=;Arg197Gln;Arg268=]1041983 1799930 1208
NAT2*7BUnited Arab EmiratesNC_000008.11:g.[18400285C>T;18400860G>A]Drug ResponseAcetylation, SlowNG_012246.1:g.[14041C>T;14616G>A]; NM_000015.3:c.[282C>T;857G>A]; NP_000006.2:p.[Tyr94=;Gly286Glu]1041983 1799931
NM_000015.3:c.191G>AUnited Arab EmiratesNC_000008.11:g.18400194G>ADrug ResponseDrug ResponseAcetylation, SlowNG_012246.1:g.13950G>A; NM_000015.3:c.191G>A; NP_000006.2:p.Arg64Gln1801279726
NM_000015.3:c.282C>TUnited Arab EmiratesNC_000008.11:g.18400285C>TNG_012246.1:g.14041C>T; NM_000015.3:c.282C>T; NP_000006.2:p.Tyr94=1041983
NM_000015.3:c.481C>TLebanonNC_000008.11:g.18400484C>TUncertain SignificanceBreast CancerNG_012246.1:g.14240C>T; NM_000015.3:c.481C>T; NP_000006.2:p.Leu161=1799929
NM_000015.3:c.590G>A Lebanon; United Arab E...NC_000008.11:g.18400593G>ADrug ResponseDrug Response, Uncertain SignificanceBreast Cancer; Acetylation, SlowNG_012246.1:g.14349G>A; NM_000015.3:c.590G>A ; NP_000006.2:p.Arg197Gln1799930722

Other Reports

Jordan

Mahasneh et al. (2012) conducted a study in 49 (5 women and 44 men) lung cancer patients, 54 (26 women and 28 men) colorectal cancer patients and 99 (7 women and 92 men) cancer-free controls.  Using PCR-RFLP, the polymorphisms of NAT2 gene were screened.  Five types of the alleles were found, the wild type WT (NAT2*4) allele and the M1 (NAT2*5A), M2 (NAT2*6A), M3 (NAT2*7), and the M4 (NAT2*14A) polymorphisms caused by point mutations in the NAT2 gene.  While M2 polymorphism was apparent in the lung and colorectal cancer patients, significant difference was found in the distribution of rapid and slow acetylators genotypes between cancer-free controls and lung cancer patients, but not in the colorectal patients.  It was observed that individuals with rapid acetylators genotypes have a high risk of developing lung cancer but not colorectal cancer.

Saudi Arabia

Bu et al. (2004) studied the frequencies of alleles and genotypes for CYP1A1, NAT2, GSTs, MTHFR, MTR (MS), and NQO*1 genes among Arabs.  Of the studied group, 95% were from Saudi Arabia, and 5% were from Jordan, Syria, Lebanon, and Yemen.  The mean age was 37 years, and male to female ratio was (25:1).  Of the major NAT2 gene alleles, the variant allele 5B had the highest frequency (41%), followed by 6A (22%), 4 (17%), 13 (6%) and 5A (4 %). The 5B/5B genotype was the most common among Arabs (22%), followed by 5B/6A (18%), and 4/5B (10%).

Sudan

Al-Yahyaee et al. (2007) identified 12 polymorphisms in the NAT2 gene while genotyping 127 randomly selected unrelated northern Sudanese subjects. Four alleles coded for rapid acetylators (18%), and eight alleles coded for slow acetylators (82%). Two genotypes coded for rapid acetylation (4%), 10 for intermediate acetylation (28%), and 13 for slow acetylation (68%). The a.G191A African SNP and the a.G857A predominantly Asian SNP were each detected at a low frequency of 3%.

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