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FLASH GENE
Symbol NAT2 contributors: npt/ - updated : 13-10-2007
HGNC name N-acetyltransferase 2 (arylamine N-acetyltransferase)
HGNC id 7646
Corresponding disease
NAT2D N-acetyltransferase 2 (arylamine N-acetyltransferase) deficiency
Location 8p22      Physical location : 18.248.754 - 18.258.723
Synonym name
  • arylamide acetylase 2 (N-acetyltransferase 2,isomiazid inactivation)
  • N- acetyltransferase type 2
  • polymorphic arylamine N-acetyltransferase
    • Synonym symbol(s) AAC2, ARY2, PNAT, NAT-2
    EC.number 2.3.1.5
    DNA
    TYPE functioning gene
    STRUCTURE 9.97 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1317 33 290 - Ohsako (1990)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   predominantly
     liver   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Nat2
    homolog to rattus nat1
    Homologene
    FAMILY
  • arylamine N-acetyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • arylamine N-acetyltransferase 2, polymorphic
  • responsible for slow or rapid acetylation of arylamine and hydrazine drugs and able to bioactivate several known carcinogens
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NAT2D
    related resource Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature)
    Susceptibility
  • susceptibility gene for bladder cancer
  • putative susceptibility factor in squamous-cell carcinoma of the esophagus and colorectal cancer and in systemic lupus erythematosus
  • putative susceptibility factor for idiopathic talipes equinovarus (clubfoot)
  • sucseptibility to age-related hearing impairment
  • to drug-induced hepatotoxicity in tuberculosis and rheumatoid arthritis patients
    • Variant & Polymorphism other
  • in slow activator male patients, particularly when the genotype NAT2*5B/6A was combined with the GTSM1 null phenotype and breast cancer and the genotype NAT2*7 is an important factor in tumorigenesis of colorectal cancer
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS