NAT2 (N-acetyltransferase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10
Gene name N-acetyltransferase 2
Gene symbol NAT2
Synonyms (NCBI Gene)
AAC2NAT-2PNAT
Chromosome 8
Chromosome location 8p22
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, interm
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs1208 G>A,C,T Drug-response Missense variant, coding sequence variant
rs1041983 C>T Drug-response Synonymous variant, coding sequence variant
rs1799930 G>A Drug-response Missense variant, coding sequence variant
rs1799931 G>A Drug-response Missense variant, coding sequence variant
rs1801279 G>A Drug-response Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT1174455 hsa-miR-1290 CLIP-seq
MIRT1174456 hsa-miR-3159 CLIP-seq
MIRT1174457 hsa-miR-4659a-3p CLIP-seq
MIRT1174458 hsa-miR-4659b-3p CLIP-seq
MIRT1174459 hsa-miR-4698 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004060 Function Arylamine N-acetyltransferase activity IBA
GO:0004060 Function Arylamine N-acetyltransferase activity IEA
GO:0004060 Function Arylamine N-acetyltransferase activity TAS 2340091
GO:0005515 Function Protein binding IPI 25640309, 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612182 7646 ENSG00000156006
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11245
Protein name Arylamine N-acetyltransferase 2 (EC 2.3.1.5) (Arylamide acetylase 2) (N-acetyltransferase type 2) (NAT-2) (N-hydroxyarylamine O-acetyltransferase) (EC 2.3.1.118) (Polymorphic arylamine N-acetyltransferase) (PNAT)
Protein function Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates (PubMed:12222688, PubMed:7915226). Participates in the detoxification of a plethora of hydrazine and arylamine drugs, and is able to bioactivate several kno
PDB 2PFR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00797 Acetyltransf_2 20 → 280 N-acetyltransferase Family
Sequence
Sequence length 290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Caffeine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Chemical carcinogenesis - DNA adducts 		  Acetylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs1041983 RCV005937253
NAT2-related disorder Benign; drug response; Likely benign rs1799930, rs1801280, rs1801279, rs751374116, rs1208, rs1799929, rs144828000, rs1315180839, rs1041983 RCV003974784
RCV003974785
RCV003924790
RCV003907135
RCV003979775
RCV003977322
RCV003939599
RCV003943870
RCV003982211
Slow acetylator due to N-acetyltransferase enzyme variant Benign; drug response; Likely benign rs1799930, rs1801280, rs1208, rs1799931, rs1801279 RCV000000758
RCV000000759
RCV000000760
RCV000000761
RCV000000762
Show/Hide Text Mining Associations (87)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 17186459, 22628494, 22881407
Adenomatous Polyposis Coli Associate 14724163
Age Related Hearing Impairment 1 Associate 17513527, 29455378
Alzheimer Disease Associate 15339384
Anemia Hemolytic Autoimmune Associate 27914600
Anorexia Associate 12186410
Arthritis Rheumatoid Associate 21989592, 22731637, 32626768
Asthma Associate 12492617, 26641831
Breast Diseases Associate 26700672
Breast Neoplasms Associate 15987434, 18423013, 19116874, 19692670, 26700672, 27068825, 29901116