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

    Gene ID: 10, updated on 8-Nov-2017
    Official Symbol
    NAT2provided by HGNC
    Official Full Name
    N-acetyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:7646
    See related
    Ensembl:ENSG00000156006 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]
    Expression
    Biased expression in liver (RPKM 16.4), duodenum (RPKM 11.9) and 2 other tissues See more
    Orthologs
    Location:
    8p22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    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
    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
     
    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

    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_000015.2NP_000006.2  arylamine N-acetyltransferase 2

      See identical proteins and their annotated locations for NP_000006.2

      Status: REVIEWED

      Source sequence(s)
      AC025062, AI460128, D90042
      Consensus CDS
      CCDS6008.1
      UniProtKB/Swiss-Prot
      P11245
      UniProtKB/TrEMBL
      A4Z6T7
      Related
      ENSP00000286479.3, OTTHUMP00000161399, ENST00000286479.3, OTTHUMT00000253380
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

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