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NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) [ Homo sapiens (human) ]

Gene ID: 10, updated on 11-Sep-2014
Official Symbol
NAT2provided by HGNC
Official Full Name
N-acetyltransferase 2 (arylamine N-acetyltransferase)provided by HGNC
Primary source
HGNC:HGNC:7646
See related
Ensembl:ENSG00000156006; HPRD:02000; MIM:612182; Vega:OTTHUMG00000130826
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAC2; PNAT; NAT-2
Summary
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 arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008]
Annotation information
Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013]
See NAT2 in Epigenomics, MapViewer
Location:
8p22
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (18391245..18401213)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (18248755..18258723)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10a pseudogene 11 Neighboring gene N-acetyltransferase pseudogene Neighboring gene pleckstrin and Sec7 domain containing 3 Neighboring gene uncharacterized LOC101929092 Neighboring gene ribosomal protein L35 pseudogene 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Slow acetylator due to N-acetyltransferase enzyme variant
MedGen: C1827377 OMIM: 243400 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine.
NHGRI GWA Catalog
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylamine N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
small molecule metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
arylamine N-acetyltransferase 2
Names
arylamine N-acetyltransferase 2
arylamide acetylase 2
N-acetyltransferase type 2
NP_000006.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012246.1 

    Range
    5001..14969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000015.2NP_000006.2  arylamine N-acetyltransferase 2

    See proteins identical to NP_000006.2

    Status: REVIEWED

    Source sequence(s)
    AC025062, AI460128, D90042
    Consensus CDS
    CCDS6008.1
    UniProtKB/TrEMBL
    A4Z6T7
    UniProtKB/Swiss-Prot
    P11245
    Related
    ENSP00000286479, OTTHUMP00000161399, ENST00000286479, OTTHUMT00000253380
    Conserved Domains (1) summary
    pfam00797
    Location:20280
    Acetyltransf_2; N-acetyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    18391245..18401213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    16793030..16802996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    18450223..18460188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)