NAT2 Gene (Protein Coding)

N-Acetyltransferase 2

GC08P018391
GIFtS:
45
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 d... See more...

Aliases for NAT2 Gene

Aliases for NAT2 Gene

  • N-Acetyltransferase 2 2 3 5
  • Arylamine N-Acetyltransferase 2 2 3 4
  • N-Acetyltransferase 2 (Arylamine N-Acetyltransferase) 2 3
  • N-Acetyltransferase Type 2 3 4
  • Arylamide Acetylase 2 3 4
  • EC 2.3.1.5 4 51
  • NAT-2 3 4
  • AAC2 3 4
  • PNAT 3 4
  • Polymorphic Arylamine N-Acetyltransferase 4
  • NAT2 5

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 polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]

GeneCards Summary for NAT2 Gene

NAT2 (N-Acetyltransferase 2) is a Protein Coding gene. Diseases associated with NAT2 include Acetylation, Slow and Drug-Induced Hepatitis. Among its related pathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Gene Ontology (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 Summary 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

Additional gene information for NAT2 Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for NAT2 Gene

Genomics for NAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NAT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J018386 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 255.3 +0.7 691 1.4 CTCF GABPA HNF4A ZBTB33 TAF1 RAD21 ZNF148 ZNF143 POLR2A NR2F2 NAT2 ENSG00000271654 ENSG00000285624 lnc-PSD3-2 lnc-PSD3-5 lnc-PSD3-4 PSD3
GH08J018390 Promoter/Enhancer 0.9 EPDnew ENCODE 255.2 +4.8 4805 1.3 RXRA FOXA2 JUND HNF4A RAD21 REST MAX SP1 TAF1 GABPA NAT2 lnc-PSD3-5 piR-32559-429 lnc-PSD3-4 PSD3
GH08J017494 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.2 -889.4 -889403 4.9 TBP ZBTB10 MXD4 FEZF1 CEBPA ZFP64 CTCF NONO ZIC2 ZNF610 ENSG00000280453 HSALNG0063671 HSALNG0063672 SLC7A2 ENSG00000253384 CNOT7 ENSG00000249258 MTUS1 NAT2 ENSG00000279271
GH08J018665 Enhancer 1.2 FANTOM5 Ensembl ENCODE 1.7 +279.8 279815 2.4 CEBPA FOXA1 BRCA1 THAP11 CEBPB ZNF511 FOXA2 SMAD4 KLF7 ZNF341 HSALNG0063723 RF00994-1053 piR-39098-259 piR-53063-244 NAT1 NAT2 PSD3
GH08J018356 Enhancer 0.3 Ensembl 6.2 -29.9 -29884 0.2 GLIS1 NAT2 piR-30188-167 lnc-PSD3-6 lnc-PSD3-4 NAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAT2

Top Transcription factor binding sites by QIAGEN in the NAT2 gene promoter:
  • GATA-2
  • GR-alpha
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic3

Genomic Locations for NAT2 Gene

Latest Assembly
chr8:18,386,585-18,401,219
(GRCh38/hg38)
Size:
14,635 bases
Orientation:
Plus strand

Previous Assembly
chr8:18,248,792-18,258,728
(GRCh37/hg19 by Entrez Gene)
Size:
9,937 bases
Orientation:
Plus strand

chr8:18,248,755-18,258,728
(GRCh37/hg19 by Ensembl)
Size:
9,974 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 Structure • Gene Density

RefSeq DNA sequence for NAT2 Gene

Proteins for NAT2 Gene

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  • 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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAT2 Gene

neXtProt entry for NAT2 Gene

Protein Expression for NAT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for NAT2 Gene

P11245:
  • AYFERIGY
  • IEDFESMNTYLQTSP
  • SFCSLQT
  • RGGWCLQVN
  • WYLDQIRR

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NAT2 Gene

InterPro:
Blocks:
  • Arylamine N-acetyltransferase signature
ProtoNet:

Suggested Antigen Peptide Sequences for NAT2 Gene

GenScript: Design optimal peptide antigens:
  • Arylamine N-acetyltransferase 2 (A4Z6T7_HUMAN)
  • Arylamine N-acetyltransferase 2 (A4Z6T8_HUMAN)
  • N-acetyltransferase 2 (Arylamine N-acetyltransferase), isoform CRA_b (A4Z6T9_HUMAN)
  • Arylamine N-acetyltransferase 2 (A4Z6U4_HUMAN)
  • Arylamine N-acetyltransferase 2 (A4Z6U6_HUMAN)

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

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Molecular function for NAT2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + an arylamine = an N-acetylarylamine + CoA; Xref=Rhea:RHEA:16613, ChEBI:CHEBI:13790, ChEBI:CHEBI:50471, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.5;.
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

Enzyme Numbers (IUBMB) for NAT2 Gene

Phenotypes From GWAS Catalog 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 IEA,TAS --
GO:0005515 protein binding IPI 25640309
GO:0016407 acetyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups 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:
  • Nat1 Nat1<tm1.1(KOMP)Vlcg>

Animal Models for research

miRNA for NAT2 Gene

miRTarBase miRNAs that target NAT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAT2

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAT2 gene
Compartment Confidence
cytosol 5
plasma membrane 2
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NAT2 Gene

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 --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isoniazid Approved, Investigational Pharma Enzyme, substrate 234
Amifampridine Approved, Investigational Pharma Enzyme, substrate 22
Aspirin Approved, Vet_approved Pharma Enzyme, substrate 1578
Acetaminophen Approved Pharma Enzyme, inhibitor 1395
Dapsone Approved, Investigational Pharma Enzyme, substrate 70

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
Acetylisoniazid
  • (N)1-Acetylisoniazid
  • 1-Acetyl-2-isonicotinoylhydrazine
  • Acetyl isoniazid
  • N-Acetyl-n'-isonicotinoylhydrazine
  • N-Acetylisoniazid
 1078-38-2
Paraxanthine
  • 3,7-Dihydro-1,7-dimethyl-1H-purine-2,6-dione
  • p-Xanthine
  • 1,7-Dimethyl-xanthine
  • 1,7-Dimethylxanthine
 611-59-6
2,4-Diamino-6-nitrotoluene
  • 2-Nitro-4,6-diaminotoluene
3-Aminosalicylic acid
  • 3-Aminosalicylate
  • 3-Amino salicylate
  • 3-Amino salicylic acid
  • 3-Amino-(8ci)salicylate
  • 3-Amino-(8ci)salicylic acid
 570-23-0
genes like me logo Genes that share compounds with NAT2: view

Transcripts for NAT2 Gene

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mRNA/cDNA for NAT2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NAT2

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

No ASD Table

Relevant External Links for NAT2 Gene

GeneLoc Exon Structure for
NAT2

Expression for NAT2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAT2 Gene

mRNA expression in normal human tissues for NAT2 Gene
mRNA expression by GTEx for NAT2 GenemRNA expression by BioGPS for NAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

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 and MOPED for NAT2 Gene



Protein tissue co-expression partners for NAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAT2

SOURCE GeneReport for Unigene cluster for NAT2 Gene:

Hs.2

Evidence on tissue expression from TISSUES for NAT2 Gene

  • Liver(4.6)
  • Kidney(2.1)
  • Urine(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with NAT2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 98.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Nat1 30
  • 79.08 (n)
Mouse
(Mus musculus)
 Mammalia Nat1 30 17 31
  • 78.51 (n)
 ManyToMany
Nat2 31
  • 75 (a)
 ManyToMany
Nat3 31
  • 66 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia NAT1 31
  • 76 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 62 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 52 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves PNAT10 31
  • 56 (a)
 ManyToMany
PNAT3 31
  • 51 (a)
 ManyToMany
NAT 31
  • 44 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 53 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii si:dkey-78a14.4 31
  • 40 (a)
 ManyToMany
si:dkey-78a14.5 31
  • 39 (a)
 ManyToMany
zgc:101040 31
  • 39 (a)
 ManyToMany
zgc:103601 31
  • 39 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 30 (a)
 ManyToMany
-- 31
  • 29 (a)
 ManyToMany
-- 31
  • 26 (a)
 ManyToMany
CSA.3273 31
  • 22 (a)
 ManyToMany
-- 31
  • 19 (a)
 ManyToMany
Species where no ortholog for NAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NAT2: view image

Paralogs for NAT2 Gene

Paralogs for NAT2 Gene

(1) SIMAP similar genes for NAT2 Gene using alignment to 31 proteins:

  • ARY2_HUMAN
  • A4Z6T7_HUMAN
  • A4Z6T8_HUMAN
  • A4Z6T9_HUMAN
  • A4Z6U4_HUMAN
  • A4Z6U6_HUMAN
  • A4Z6U7_HUMAN
  • A4Z6U9_HUMAN
  • A4Z6V9_HUMAN
  • A4Z6Y1_HUMAN
  • A4Z6Y3_HUMAN
  • A4Z6Y5_HUMAN
  • A4Z737_HUMAN
  • A4Z787_HUMAN
  • A4Z7F6_HUMAN
  • A4Z7H3_HUMAN
  • A4Z7J7_HUMAN
  • A4Z7K4_HUMAN
  • A4Z7P9_HUMAN
  • A4Z7V0_HUMAN
  • A4Z867_HUMAN
  • A9X7Q9_HUMAN
  • A9X7U6_HUMAN
  • A9X7X6_HUMAN
  • A9X816_HUMAN
  • A9X844_HUMAN
  • A9X854_HUMAN
  • A9X868_HUMAN
  • E7EWF9_HUMAN
  • Q400I5_HUMAN
  • Q400I7_HUMAN

Pseudogenes.org Pseudogenes for NAT2 Gene

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

Variants for NAT2 Gene

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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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAT2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1041983 Drug Response: ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR 18,400,285(+) C/T
NM_000015.3(NAT2):c.282C>T (p.Tyr94=) 		SYNONYMOUS
rs1208 Drug Response: Slow acetylator due to N-acetyltransferase enzyme variant. - 18,400,806(+) G/.p.Lys268Arg
NM_000015.3(NAT2):c.803= (p.Arg268=) 		NO_SEQUENCE_ALTERATION
rs144176822 Likely Benign: not provided 18,400,582(+) G/T
NM_000015.3(NAT2):c.579G>T (p.Thr193=) 		SYNONYMOUS
rs1799930 Drug Response: Slow acetylator due to N-acetyltransferase enzyme variant; ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK. - 18,400,593(+) G/Ap.Arg197Gln
NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) 		MISSENSE
rs1799931 Drug Response: Slow acetylator due to N-acetyltransferase enzyme variant. - 18,400,860(+) G/Ap.Gly286Glu
NM_000015.2(NAT2):c.857G>A (p.Gly286Glu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NAT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for NAT2 Gene

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

SNP Genotyping and Copy Number Assays for research

Disorders for NAT2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for NAT2 Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
acetylation, slow
  • slow acetylator phenotype
drug-induced hepatitis
  • drug-induced chronic hepatitis
1,4-phenylenediamine allergic contact dermatitis
  • allergic contact dermatitis to p-phenylenediamine
multiple chemical sensitivity
  • 20th century disease
pulmonary tuberculosis
  • tuberculosis, pulmonary
- 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

Additional Disease Information for NAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. GSTT1, GSTM1, GSTM3 and NAT2 polymorphisms in laryngeal squamous cell carcinoma in a Greek population. (PMID: 19922706) Chatzimichalis M … Bibas A (The Journal of laryngology and otology 2010) 3 23 41
  2. 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 RL … Santos AR (Mutation research 2010) 3 23 41
  3. Smoking (active and passive), N-acetyltransferase 2, and risk of breast cancer. (PMID: 20197243) Conlon MS … Donner A (Cancer epidemiology 2010) 3 23 41
  4. Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan. (PMID: 18986377) Maruyama K … Otsuki M (Alcoholism, clinical and experimental research 2010) 3 23 41
  5. Genetic susceptibility factors for multiple chemical sensitivity revisited. (PMID: 20185366) Berg ND … Elberling J (International journal of hygiene and environmental health 2010) 3 23 41

ExternalLinks

View latest publications for NAT2 gene in Mastermind

Products for NAT2 Gene

  • Addgene plasmids for NAT2

Sources for NAT2 Gene