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Aliases for NAT2 Gene

Aliases for NAT2 Gene

  • N-Acetyltransferase 2 2 3 5
  • N-Acetyltransferase 2 (Arylamine N-Acetyltransferase) 2 3
  • Arylamine N-Acetyltransferase 2 2 3
  • N-Acetyltransferase Type 2 3 4
  • Arylamide Acetylase 2 3 4
  • EC 2.3.1.5 4 61
  • NAT-2 3 4
  • AAC2 3 4
  • PNAT 3 4
  • Polymorphic Arylamine N-Acetyltransferase 4

External Ids for NAT2 Gene

Previous HGNC Symbols for NAT2 Gene

  • AAC2

Previous GeneCards Identifiers for NAT2 Gene

  • GC08P018125
  • GC08P018311
  • GC08P018259
  • GC08P018293
  • GC08P016793
  • GC08P018250

Summaries for NAT2 Gene

Entrez Gene Summary for NAT2 Gene

  • 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]

GeneCards Summary for NAT2 Gene

NAT2 (N-Acetyltransferase 2) is a Protein Coding gene. Diseases associated with NAT2 include Nat2-Related Altered Drug Metabolism and Drug-Induced Hepatitis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. GO annotations related to this gene include acetyltransferase activity and arylamine N-acetyltransferase activity. An important paralog of this gene is NAT1.

UniProtKB/Swiss-Prot for NAT2 Gene

  • Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.

Gene Wiki entry for NAT2 Gene

PharmGKB "VIP" Summary for NAT2 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for NAT2 Gene

Genomics for NAT2 Gene

Regulatory Elements for NAT2 Gene

Enhancers for NAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F018386 0.2 ENCODE 5.4 -4.0 -3987 1.4 CTCF MAX ZBTB33 RAD21 NR2F2 MGA NAT2 ENSG00000271654 RPL10AP11
GH08F018390 0.4 ENCODE 5.3 +0.1 145 1.3 ATF3 HNF4G YY1 NAT2 GC08M018559
GH08F017494 0.7 ENCODE 5.2 -894.1 -894063 4.9 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP5 NFYC CNOT7 MICU3 NAT2 ENSG00000280453 SLC7A2
GH08F018665 1.1 FANTOM5 Ensembl ENCODE 1.7 +275.3 275348 2.0 TBP KLF17 BRCA1 RARA GTF3C2 POLR3A KLF7 THAP11 ZNF362 HMG20B NAT1 NAT2 GC08M018601 GC08M018701
GH08F018426 0.2 ENCODE 0.3 +35.3 35261 0.2 NFE2 FOS NFE2L2 NAT2 GC08M018559
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NAT2 Gene

Chromosome:
8
Start:
18,391,245 bp from pter
End:
18,401,219 bp from pter
Size:
9,975 bases
Orientation:
Plus strand

Genomic View for NAT2 Gene

Genes around NAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAT2 Gene

Proteins for NAT2 Gene

  • Protein details for NAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11245-ARY2_HUMAN
    Recommended name:
    Arylamine N-acetyltransferase 2
    Protein Accession:
    P11245
    Secondary Accessions:
    • O43637
    • O60654
    • O60655
    • Q13146
    • Q16697
    • Q2MLE4
    • Q2MLF5
    • Q2MLG8
    • Q2MLJ6
    • Q2MLK4
    • Q2MLK6
    • Q2MLN7
    • Q6LET4
    • Q86XS0
    • Q86XS1
    • Q96KY8
    • Q96T64
    • Q96T65
    • Q9H220

    Protein attributes for NAT2 Gene

    Size:
    290 amino acids
    Molecular mass:
    33542 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK51711.1; Type=Frameshift; Positions=287; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAT2 Gene

neXtProt entry for NAT2 Gene

Selected DME Specific Peptides for NAT2 Gene

Post-translational modifications for NAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for NAT2 Gene

Gene Families for NAT2 Gene

Protein Domains for NAT2 Gene

Graphical View of Domain Structure for InterPro Entry

P11245

UniProtKB/Swiss-Prot:

ARY2_HUMAN :
  • Belongs to the arylamine N-acetyltransferase family.
Family:
  • Belongs to the arylamine N-acetyltransferase family.
genes like me logo Genes that share domains with NAT2: view

Function for NAT2 Gene

Molecular function for NAT2 Gene

GENATLAS Biochemistry:
arylamine N-acetyltransferase 2,polymorphic,responsible for slow or rapid acetylation of arylamine and hydrazine drugs,putative susceptibility factor in squamous-cell carcinoma of the esophagus,also involved in bladder carcinogenesis and breast cancer
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an arylamine = CoA + an N-acetylarylamine.
UniProtKB/Swiss-Prot Function:
Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.

Enzyme Numbers (IUBMB) for NAT2 Gene

Gene Ontology (GO) - Molecular Function for NAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004060 arylamine N-acetyltransferase activity TAS --
GO:0005515 protein binding IPI 25640309
GO:0015179 L-amino acid transmembrane transporter activity IEA --
GO:0016407 acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NAT2: view
genes like me logo Genes that share phenotypes with NAT2: view

Animal Models for NAT2 Gene

MGI Knock Outs for NAT2:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAT2

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NAT2 Gene

Localization for NAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAT2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAT2 Gene COMPARTMENTS Subcellular localization image for NAT2 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NAT2: view

Pathways & Interactions for NAT2 Gene

genes like me logo Genes that share pathways with NAT2: view

Gene Ontology (GO) - Biological Process for NAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0015807 L-amino acid transport IEA --
GO:1902475 L-alpha-amino acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with NAT2: view

No data available for SIGNOR curated interactions for NAT2 Gene

Drugs & Compounds for NAT2 Gene

(49) Drugs for NAT2 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoniazid Approved Pharma Enzyme, substrate 150
Acetaminophen Approved Pharma Enzyme, inhibitor Cyclooxygenase inhibitor; may be selective for COX-3 978
Dapsone Approved, Investigational Pharma Enzyme, substrate 68
Hydralazine Approved Pharma 44
Rifampin Approved Pharma Agonist 337

(67) Additional Compounds for NAT2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Acetylisoniazid
  • (N)1-Acetylisoniazid
  • 1-Acetyl-2-isonicotinoylhydrazine
  • Acetyl isoniazid
  • Acetylisoniazid
  • N'-Acetylpyridine-4-carbohydrazide
1078-38-2
Paraxanthine
  • 1,7-Dimethyl-Xanthine
  • 1,7-Dimethylxanthine
611-59-6
2,4-Diamino-6-nitrotoluene
3-Aminosalicylic acid
  • 3-Amino Salicylate
  • 3-Amino Salicylic acid
  • 3-Amino-(8CI)salicylate
  • 3-Amino-(8CI)salicylic acid
  • 3-Amino-2-hydroxy-(9CI)benzoate
570-23-0
genes like me logo Genes that share compounds with NAT2: view

Transcripts for NAT2 Gene

mRNA/cDNA for NAT2 Gene

Unigene Clusters for NAT2 Gene

N-acetyltransferase 2 (arylamine N-acetyltransferase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NAT2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAT2 Gene

No ASD Table

Relevant External Links for NAT2 Gene

GeneLoc Exon Structure for
NAT2
ECgene alternative splicing isoforms for
NAT2

Expression for NAT2 Gene

mRNA expression in normal human tissues for NAT2 Gene

mRNA differential expression in normal tissues according to GTEx for NAT2 Gene

This gene is overexpressed in Liver (x38.0) and Colon - Transverse (x6.1).

Protein differential expression in normal tissues from HIPED for NAT2 Gene

This gene is overexpressed in Gallbladder (42.7), Breast (11.3), and Liver (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NAT2 Gene



Protein tissue co-expression partners for NAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NAT2 Gene:

NAT2

SOURCE GeneReport for Unigene cluster for NAT2 Gene:

Hs.2
genes like me logo Genes that share expression patterns with NAT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NAT2 Gene

Orthologs for NAT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAT2 34 35
  • 98.51 (n)
rat
(Rattus norvegicus)
Mammalia Nat1 34
  • 79.08 (n)
mouse
(Mus musculus)
Mammalia Nat1 34 16 35
  • 78.51 (n)
Nat2 35
  • 75 (a)
ManyToMany
Nat3 35
  • 66 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia NAT1 35
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves PNAT10 35
  • 56 (a)
ManyToMany
PNAT3 35
  • 51 (a)
ManyToMany
NAT 35
  • 44 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-78a14.4 35
  • 40 (a)
ManyToMany
si:dkey-78a14.5 35
  • 39 (a)
ManyToMany
zgc:101040 35
  • 39 (a)
ManyToMany
zgc:103601 35
  • 39 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
-- 35
  • 26 (a)
ManyToMany
CSA.3273 35
  • 22 (a)
ManyToMany
-- 35
  • 19 (a)
ManyToMany
Species where no ortholog for NAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAT2 Gene

ENSEMBL:
Gene Tree for NAT2 (if available)
TreeFam:
Gene Tree for NAT2 (if available)

Paralogs for NAT2 Gene

Variants for NAT2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NAT2 Gene

ARY2_HUMAN-P11245
Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity.

Sequence variations from dbSNP and Humsavar for NAT2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1208 drug-response 18,400,806(+) GCTGA(A/G)AAATA reference, missense
rs1799930 drug-response 18,400,593(+) ACCTC(A/G)AACAA reference, missense
rs1799931 drug-response 18,400,860(+) TGATG(A/G)ATCCC reference, missense
rs1801279 drug-response 18,400,194(+) AAACC(A/G)GGGTG reference, missense
rs1801280 drug-response 18,400,344(+) GACCA(C/T)TGACG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NAT2 Gene

Variant ID Type Subtype PubMed ID
dgv12046n54 CNV gain 21841781
dgv7125n100 CNV gain 25217958
nsv1026366 CNV gain 25217958
nsv428196 CNV gain 18775914
nsv610717 CNV gain 21841781
nsv831252 CNV gain 17160897

Variation tolerance for NAT2 Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.88; 97.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAT2 Gene

Human Gene Mutation Database (HGMD)
NAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAT2

Disorders for NAT2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for NAT2 Gene - From: GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nat2-related altered drug metabolism
  • acetylation, slow
drug-induced hepatitis
  • drug-induced chronic hepatitis
isoniazid toxicity
toxic oil syndrome
larynx cancer
  • laryngeal benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search NAT2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for NAT2 Gene

isoniazid inactivation

Relevant External Links for NAT2

Genetic Association Database (GAD)
NAT2
Human Genome Epidemiology (HuGE) Navigator
NAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAT2
genes like me logo Genes that share disorders with NAT2: view

No data available for UniProtKB/Swiss-Prot for NAT2 Gene

Publications for NAT2 Gene

  1. Sequence analysis of NAT2 gene in Brazilians: identification of undescribed single nucleotide polymorphisms and molecular modeling of the N-acetyltransferase 2 protein structure. (PMID: 19909761) Teixeira R.L. … Santos A.R. (Mutat. Res. 2010) 3 22 46 64
  2. Phenotyping with sulfasalazine - time dependence and relation to NAT2 pharmacogenetics. (PMID: 20040334) Kuhn U.D. … Blume H.H. (Int J Clin Pharmacol Ther 2010) 3 22 46 64
  3. Genetic susceptibility factors for multiple chemical sensitivity revisited. (PMID: 20185366) Berg N.D. … Elberling J. (Int J Hyg Environ Health 2010) 3 22 46 64
  4. Smoking (active and passive), N-acetyltransferase 2, and risk of breast cancer. (PMID: 20197243) Conlon M.S. … Donner A. (Cancer Epidemiol 2010) 3 22 46 64
  5. Estimating N-acetyltransferase metabolic activity and pharmacokinetic parameters of isoniazid from genotypes in Chinese subjects. (PMID: 19336229) Chen B. … Cao X. (Clin. Chim. Acta 2009) 3 22 46 64

Products for NAT2 Gene

Sources for NAT2 Gene

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