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N-acetyltransferase 2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
NAT2
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

2PFR

Identifiers
AliasesNAT2, AAC2, NAT-2, PNAT, N-acetyltransferase 2, N-acetyltransferase 2 (arylamine N-acetyltransferase)
External IDsOMIM:612182;MGI:97279;HomoloGene:115468;GeneCards:NAT2;OMA:NAT2 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for NAT2
Genomic location for NAT2
Band8p22Start18,391,282bp[1]
End18,401,218bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for NAT2
Genomic location for NAT2
Band8 B3.2|8 33.38 cMStart67,933,573bp[2]
End67,944,756bp[2]
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 8: 67.93 – 67.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

N-acetyltransferase 2 (arylamine N-acetyltransferase), also known asNAT2, is anenzyme which in humans is encoded by theNAT2gene.[5]

Function

[edit]

This gene encodes a type ofN-acetyltransferase. The NAT2isozyme functions to both activate and deactivate arylamine andhydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slowacetylatorphenotypes. 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

[edit]

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

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000156006Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000025588Ensembl, 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 fromthe original on 2009-05-22. Retrieved2009-04-30.
  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

[edit]

External links

[edit]
PDB gallery
  • 2pfr: Human N-acetyltransferase 2
    2pfr: Human N-acetyltransferase 2


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