Human Gene NAT2 (ENST00000286479.4) from GENCODE V44
  Description: Homo sapiens N-acetyltransferase 2 (NAT2), mRNA. (from RefSeq NM_000015)
RefSeq Summary (NM_000015): 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). [provided by RefSeq, Sep 2019].
Gencode Transcript: ENST00000286479.4
Gencode Gene: ENSG00000156006.5
Transcript (Including UTRs)
   Position: hg38 chr8:18,391,282-18,401,218 Size: 9,937 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr8:18,400,004-18,400,876 Size: 873 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:18,391,282-18,401,218)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ARY2_HUMAN
DESCRIPTION: RecName: Full=Arylamine N-acetyltransferase 2; EC=2.3.1.5; AltName: Full=Arylamide acetylase 2; AltName: Full=N-acetyltransferase type 2; Short=NAT-2; AltName: Full=Polymorphic arylamine N-acetyltransferase; Short=PNAT;
FUNCTION: Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.
CATALYTIC ACTIVITY: Acetyl-CoA + an arylamine = CoA + an N- acetylarylamine.
SUBCELLULAR LOCATION: Cytoplasm.
POLYMORPHISM: Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity.
SIMILARITY: Belongs to the arylamine N-acetyltransferase family.
SEQUENCE CAUTION: Sequence=AAK51711.1; Type=Frameshift; Positions=287;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NAT2ID41498ch8p22.html";
WEB RESOURCE: Name=NAT; Note=NAT alleles; URL="http://www.louisville.edu/medschool/pharmacology/NAT.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nat2/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=NAT2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAT2
Diseases sorted by gene-association score: nat2-related altered drug metabolism* (200), isoniazid toxicity* (25), drug-induced hepatitis (25), toxic oil syndrome (18), discoid lupus erythematosus (13), larynx cancer (9), multiple chemical sensitivity (8), urinary bladder cancer (8), methemoglobinemia (7), tuberculous meningitis (7), pulmonary tuberculosis (7), tuberculosis (6), alcoholic liver cirrhosis (6), allergic contact dermatitis (6), mutagen sensitivity (5), colorectal cancer (3), neural tube defects (2), breast cancer (2), parkinson disease, late-onset (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C012177 2-aminofluorene
  • C006757 4-biphenylamine
  • C060533 2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D010129 4-Aminobenzoic Acid
  • C001042 2',3-dimethyl-4-aminobiphenyl
  • D015081 2-Naphthylamine
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C036990 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline
  • C014464 3,4-dichloroaniline
  • C023621 4-bromoaniline
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.29 RPKM in Liver
Total median expression: 47.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.5070-0.236 Picture PostScript Text
3' UTR -49.70342-0.145 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001447 - Arylamine_N-AcTrfase

Pfam Domains:
PF00797 - N-acetyltransferase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2PFR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P11245
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004060 arylamine N-acetyltransferase activity
GO:0005515 protein binding
GO:0016407 acetyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups

Biological Process:
GO:0006805 xenobiotic metabolic process
GO:0008152 metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  D90042 - Homo sapiens mRNA for arylamine N-acetyltransferase, complete cds.
BC067218 - Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase), mRNA (cDNA clone MGC:71963 IMAGE:4722596), complete cds.
BC015878 - Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase), mRNA (cDNA clone MGC:27492 IMAGE:4716636), complete cds.
JD067242 - Sequence 48266 from Patent EP1572962.
D90040 - Homo sapiens mRNA for arylamine N-acetyltransferase, complete cds.
AJ581144 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 2 (NAT2 gene), exons 1 and 2.
AJ581145 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 2 (NAT2 gene), partial CDS and 5'UTR.
CU677483 - Synthetic construct Homo sapiens gateway clone IMAGE:100018081 5' read NAT2 mRNA.
KJ896356 - Synthetic construct Homo sapiens clone ccsbBroadEn_05750 NAT2 gene, encodes complete protein.
KR710549 - Synthetic construct Homo sapiens clone CCSBHm_00013996 NAT2 (NAT2) mRNA, encodes complete protein.
KR710550 - Synthetic construct Homo sapiens clone CCSBHm_00014001 NAT2 (NAT2) mRNA, encodes complete protein.
KR710551 - Synthetic construct Homo sapiens clone CCSBHm_00014005 NAT2 (NAT2) mRNA, encodes complete protein.
KR710552 - Synthetic construct Homo sapiens clone CCSBHm_00014008 NAT2 (NAT2) mRNA, encodes complete protein.
CR407631 - Homo sapiens full open reading frame cDNA clone RZPDo834D112D for gene NAT2, N-acetyltransferase 2 (arylamine N-acetyltransferase) complete cds, without stopcodon.
AJ581146 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 2 (NAT2 gene), partial CDS and short 3'UTR.
AJ581147 - Homo sapiens partial mRNA for arylamine N-acetyltransferase 2 (NAT2 gene), partial CDS and long 3'UTR.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00232 - Caffeine metabolism
hsa00983 - Drug metabolism - other enzymes
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P11245 (Reactome details) participates in the following event(s):

R-HSA-158832 The acetyl group from acetyl-CoA is transferred to the NAT2
R-HSA-174967 NAT2 acetylation
R-HSA-156582 Acetylation
R-HSA-156580 Phase II - Conjugation of compounds
R-HSA-211859 Biological oxidations
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AAC2, ARY2_HUMAN, ENST00000286479.1, ENST00000286479.2, ENST00000286479.3, NM_000015, O43637, O60654, O60655, P11245, Q13146, Q16697, Q2MLE4, Q2MLF5, Q2MLG8, Q2MLJ6, Q2MLK4, Q2MLK6, Q2MLN7, Q6LET4, Q86XS0, Q86XS1, Q96KY8, Q96T64, Q96T65, Q9H220, uc003wyw.1, uc003wyw.2, uc003wyw.3
UCSC ID: ENST00000286479.4
RefSeq Accession: NM_000015
Protein: P11245 (aka ARY2_HUMAN)
CCDS: CCDS6008.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.