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

    Gene ID: 10, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:7646
    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 polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See NAT2 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (18386301..18401218)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (18654127..18668742)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (18248792..18258728)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10a pseudogene 11 Neighboring gene N-acetyltransferase pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:18372869-18373421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:18394809-18395372 Neighboring gene pleckstrin and Sec7 domain containing 3 Neighboring gene uncharacterized LOC124901896 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:18473110-18473654 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:18522753-18523952 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:18536540-18537102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27053 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:18624592-18625402 Neighboring gene Sharpr-MPRA regulatory region 772 Neighboring gene ribosomal protein L35 pseudogene 6

    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 Functions

    What'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

    EBI GWAS Catalog

    Description
    A genome-wide association study of metabolic traits in human urine.
    EBI GWAS Catalog
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-hydroxyarylamine O-acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables arylamine N-acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables arylamine N-acetyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in 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
    N-hydroxyarylamine O-acetyltransferase
    arylamide acetylase 2
    NP_000006.2
    XP_016868427.1
    XP_054215488.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5038..14974
      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
      O43637, O60654, O60655, P11245, Q13146, Q16697, Q2MLE4, Q2MLF5, Q2MLG8, Q2MLJ6, Q2MLK4, Q2MLK6, Q2MLN7, Q6LET4, Q86XS0, Q86XS1, Q96KY8, Q96T64, Q96T65, Q9H220
      UniProtKB/TrEMBL
      A0A0S2A5X5, A4Z6T7, A4Z6T9, A4Z6U4, A4Z6V9, A4Z6Y3, A4Z6Y5, A4Z7J7, A9X816, A9X854
      Related
      ENSP00000286479.3, ENST00000286479.4
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      18386301..18401218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      O43637, O60654, O60655, P11245, Q13146, Q16697, Q2MLE4, Q2MLF5, Q2MLG8, Q2MLJ6, Q2MLK4, Q2MLK6, Q2MLN7, Q6LET4, Q86XS0, Q86XS1, Q96KY8, Q96T64, Q96T65, Q9H220
      UniProtKB/TrEMBL
      A0A0S2A5X5, A4Z6T7, A4Z6T9, A4Z6U4, A4Z6V9, A4Z6Y3, A4Z6Y5, A4Z7J7, A9X816, A9X854
      Conserved Domains (1) summary
      pfam00797
      Location:20280
      Acetyltransf_2; N-acetyltransferase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      18654127..18668742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359513.1XP_054215488.1  arylamine N-acetyltransferase 2 isoform X1

      UniProtKB/TrEMBL
      A4Z6U9, A9X7Q9, A9X7X6