N-acetyltransferase 2

NAT2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2PFR
Identifiers
Aliases	NAT2 , AAC2, NAT-2, PNAT, N-acetyltransferase 2, N-acetyltransferase 2 (arylamine N-acetyltransferase)
External IDs	OMIM: 612182; MGI: 97279; HomoloGene: 115468; GeneCards: NAT2; OMA:NAT2 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p22 Start 18,391,282 bp [1] End 18,401,218 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 B3.2|8 33.38 cM Start 67,933,573 bp [2] End 67,944,756 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver jejunal mucosa mucosa of ileum duodenum mucosa of transverse colon mucosa of sigmoid colon rectum amniotic fluid appendix smooth muscle tissue Top expressed in morula embryo embryo blastocyst pineal gland right kidney dentate gyrus of hippocampal formation granule cell respiratory epithelium nasal epithelium olfactory epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function arylamine N-acetyltransferase activity transferase activity acetyltransferase activity acyltransferase activity protein binding N-acetyltransferase activity Cellular component cytoplasm cytosol Biological process xenobiotic metabolic process metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10 17960 Ensembl ENSG00000156006 ENSMUSG00000025588 UniProt P11245 P50294 RefSeq (mRNA) NM_000015 NM_008673 RefSeq (protein) NP_000006 NP_032699 Location (UCSC) Chr 8: 18.39 – 18.4 Mb Chr 8: 67.93 – 67.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

N-acetyltransferase 2 (arylamine N-acetyltransferase), also known as NAT2, is an enzyme which in humans is encoded by the NAT2 gene. ^[5]

Function

This gene encodes a type of N-acetyltransferase. The NAT2 isozyme 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 NAT2 are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2. ^[6]

Phenotype prediction

The NAT2 acetylator phenotype can be inferred from NAT2 genotype (a combination of SNPs observed in a given individual). ^{[7] [8] [9] [10]}

References

1. GRCh38: Ensembl release 89: ENSG00000156006 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025588 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Vatsis KP, Weber WW, Bell DA, Dupret JM, Evans DA, Grant DM, Hein DW, Lin HJ, Meyer UA, Relling MV, Sim E, Suzuki T, Yamazoe Y (February 1995). "Nomenclature for N-acetyltransferases". Pharmacogenetics. 5 (1): 1–17. doi:10.1097/00008571-199502000-00001. PMID   7773298.
6. "Entrez Gene: NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)".
7. "NAT2PRED: a computational predictor of the human N-AcetylTransferase-2 (NAT2) acetylator phenotype". State University of New York – Albany. Archived from the original on 2009-05-22. Retrieved 2009-04-30.
8. Kuznetsov IB, McDuffie M, Moslehi R (May 2009). "A web server for inferring the human N-acetyltransferase-2 (NAT2) enzymatic phenotype from NAT2 genotype". Bioinformatics. 25 (9): 1185–6. doi:10.1093/bioinformatics/btp121. PMC   2672629 . PMID   19261719.
9. Agúndez JA (2008). "Polymorphisms of human N-acetyltransferases and cancer risk". Curr. Drug Metab. 9 (6): 520–31. doi:10.2174/138920008784892083. PMID   18680472.
10. Agúndez JA (2008). "N-acetyltransferases: lessons learned from eighty years of research". Curr. Drug Metab. 9 (6): 463–4. doi:10.2174/138920008784892146. PMID   18680465.

Further reading

• Vatsis KP, Weber WW, Bell DA, Dupret JM, Evans DA, Grant DM, Hein DW, Lin HJ, Meyer UA, Relling MV (1995). "Nomenclature for N-acetyltransferases". Pharmacogenetics. 5 (1): 1–17. doi:10.1097/00008571-199502000-00001. PMID   7773298.
• Windmill KF, McKinnon RA, Zhu X, Gaedigk A, Grant DM, McManus ME (1997). "The role of xenobiotic metabolizing enzymes in arylamine toxicity and carcinogenesis: functional and localization studies". Mutat. Res. 376 (1–2): 153–60. doi:10.1016/S0027-5107(97)00038-9. PMID   9202751.
• Lan Q, Rothman N, Chow WH, Lissowska J, Doll MA, Xiao GH, Zatonski W, Hein DW (2003). "No apparent association between NAT1 and NAT2 genotypes and risk of stomach cancer". Cancer Epidemiol. Biomarkers Prev. 12 (4): 384–6. PMID   12692115.
• Ochs-Balcom HM, Wiesner G, Elston RC (2007). "A meta-analysis of the association of N-acetyltransferase 2 gene (NAT2) variants with breast cancer". Am. J. Epidemiol. 166 (3): 246–54. doi: 10.1093/aje/kwm066 . PMID   17535831.
• Sanderson S, Salanti G, Higgins J (2007). "Joint effects of the N-acetyltransferase 1 and 2 (NAT1 and NAT2) genes and smoking on bladder carcinogenesis: a literature-based systematic HuGE review and evidence synthesis". Am. J. Epidemiol. 166 (7): 741–51. doi: 10.1093/aje/kwm167 . PMID   17675654.

External links

• NAT2 human gene location in the UCSC Genome Browser .
• NAT2 human gene details in the UCSC Genome Browser .
• The Arylamine N-acetyltransferase Gene Nomenclature Committee homepage
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Arylamine N-acetyltransferase 2