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

Gene ID: 10, updated on 13-Jan-2019

Summary

Official Symbol
NAT2provided by HGNC
Official Full Name
N-acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:7646
See related
Ensembl:ENSG00000156006 MIM:612182
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]
Expression
Biased expression in liver (RPKM 16.4), duodenum (RPKM 11.9) and 2 other tissues See more
Orthologs

Genomic context

See NAT2 in Genome Data Viewer
Location:
8p22
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (18386585..18401219)
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 ribosomal protein L35 pseudogene 6 Neighboring gene uncharacterized LOC107986868

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Slow acetylator due to N-acetyltransferase enzyme variant
MedGen: C0878587 OMIM: 243400 GeneReviews: Not available
Compare labs

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
An atlas of genetic influences on human blood metabolites.
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
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylamine N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arylamine N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
arylamine N-acetyltransferase 2
Names
N-acetyltransferase 2 (arylamine N-acetyltransferase)
N-acetyltransferase type 2
arylamide acetylase 2
NP_000006.2
XP_016868427.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000015.3NP_000006.2  arylamine N-acetyltransferase 2

    See identical proteins and their annotated locations for NP_000006.2

    Status: REVIEWED

    Source sequence(s)
    AC120051, AI460128, D90042
    Consensus CDS
    CCDS6008.1
    UniProtKB/Swiss-Prot
    P11245
    UniProtKB/TrEMBL
    A4Z6T7
    Related
    ENSP00000286479.3, ENST00000286479.3
    Conserved Domains (1) summary
    pfam00797
    Location:20280
    Acetyltransf_2; N-acetyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    18386585..18401219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012938.1XP_016868427.1  arylamine N-acetyltransferase 2 isoform X1

    UniProtKB/Swiss-Prot
    P11245
    UniProtKB/TrEMBL
    A4Z6T7
    Conserved Domains (1) summary
    pfam00797
    Location:20280
    Acetyltransf_2; N-acetyltransferase
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