Protein-coding gene in the species Homo sapiens
| NAT2 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| Identifiers |
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| Aliases | NAT2, AAC2, NAT-2, PNAT, N-acetyltransferase 2, N-acetyltransferase 2 (arylamine N-acetyltransferase) |
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| External IDs | OMIM: 612182; MGI: 97279; HomoloGene: 115468; GeneCards: NAT2; OMA:NAT2 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 8 (human)[1] |
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| | Band | 8p22 | Start | 18,391,282 bp[1] |
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| End | 18,401,218 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 8 (mouse)[2] |
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| | Band | 8 B3.2|8 33.38 cM | Start | 67,933,573 bp[2] |
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| End | 67,944,756 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | Top expressed in | - morula
- embryo
- embryo
- blastocyst
- pineal gland
- right kidney
- dentate gyrus of hippocampal formation granule cell
- respiratory epithelium
- nasal epithelium
- olfactory epithelium
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - arylamine N-acetyltransferase activity
- transferase activity
- acetyltransferase activity
- acyltransferase activity
- protein binding
- N-acetyltransferase activity
| | Cellular component | | | Biological process | - xenobiotic metabolic process
- metabolism
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 8: 18.39 – 18.4 Mb | Chr 8: 67.93 – 67.94 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000156006 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025588 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)".
- ^ "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.
- ^ 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.
- ^ Agúndez JA (2008). "Polymorphisms of human N-acetyltransferases and cancer risk". Curr. Drug Metab. 9 (6): 520–31. doi:10.2174/138920008784892083. PMID 18680472.
- ^ 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
 | This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it. |
2pfr: Human N-acetyltransferase 2
