NAT2 (N-acetyltransferase 2)

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Gene Gene information from NCBI Gene database.
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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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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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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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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.
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MIM HGNC e!Ensembl
612182 7646 ENSG00000156006
Protein Protein information from UniProt database.
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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.
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KEGG Pathway Reactome Pathway
Caffeine metabolism Acetylation
Drug metabolism - other enzymes  
Metabolic pathways  
Chemical carcinogenesis - DNA adducts  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (45)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD 35663546
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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NAT1 3 shared diseasesAllergic contact dermatitis, Occupational dermatitis, Urinary bladder neoplasms 4 shared pathwaysCaffeine metabolism, Drug metabolism - other enzymes, Chemical carcinogenesis - DNA adducts, Acetylation 5 shared evidence sourcesDisgenet (Asthma), Disgenet (Allergic contact dermatitis), CTD (Occupational dermatitis), Disgenet (Occupational dermatitis), CTD (Urinary bladder neoplasms) Related via 4 shared pathways including Caffeine metabolism, Drug metabolism - other enzymes — evidence mostly Disgenet. GSTM1 10 shared diseasesIschemic heart disease, Lung disease, Obstructive airway disease, Atopic dermatitis, Diabetes mellitus, Liver neoplasms, Mesothelioma, Senile cataract, Systemic sclerosis, Urinary bladder neoplasms 2 shared pathwaysDrug metabolism - other enzymes, Chemical carcinogenesis - DNA adducts 14 shared evidence sourcesDisgenet (Asthma), Disgenet (Parkinson disease), Disgenet (Systemic lupus erythematosus), Disgenet (Ischemic heart disease), Disgenet (Lung disease), Disgenet (Obstructive airway disease), Disgenet (Coronary artery disease), Disgenet (Atopic dermatitis), Disgenet (Diabetes mellitus), CTD (Liver neoplasms), CTD (Mesothelioma), Disgenet (Senile cataract) +2 more Related via 10 shared diseases including Ischemic heart disease, Lung disease — evidence mostly Disgenet. PSD3 6 shared diseasesEssential tremor, Hyperlipidemia, Lipoprotein lipase deficiency, Urinary bladder cancer, Neuropathy, Peripheral neuropathy 6 shared evidence sourcesGWAS catalog (Essential tremor), GWAS catalog (Hyperlipidemia), GWAS catalog (Lipoprotein lipase deficiency), GWAS catalog (Neuropathy), GWAS catalog (Peripheral neuropathy), GWAS catalog (Urinary bladder cancer) Related via 6 shared diseases including Essential tremor, Hyperlipidemia — evidence mostly GWAS catalog. GSTP1 7 shared diseasesLung disease, Obstructive airway disease, Atopic dermatitis, Essential tremor, Peripheral neuropathy, Senile cataract, Urinary bladder neoplasms 2 shared pathwaysDrug metabolism - other enzymes, Chemical carcinogenesis - DNA adducts 7 shared evidence sourcesDisgenet (Asthma), Disgenet (Parkinson disease), Disgenet (Lung disease), Disgenet (Obstructive airway disease), Disgenet (Atopic dermatitis), Disgenet (Senile cataract), CTD (Urinary bladder neoplasms) Related via 7 shared diseases including Lung disease, Obstructive airway disease — evidence mostly Disgenet. GSTT1 7 shared diseasesIschemic heart disease, Lung disease, Obstructive airway disease, Atopic dermatitis, Diabetes mellitus, Peripheral neuropathy, Senile cataract 2 shared pathwaysDrug metabolism - other enzymes, Chemical carcinogenesis - DNA adducts 9 shared evidence sourcesDisgenet (Asthma), Disgenet (Parkinson disease), Disgenet (Ischemic heart disease), Disgenet (Lung disease), Disgenet (Obstructive airway disease), Disgenet (Coronary artery disease), Disgenet (Atopic dermatitis), Disgenet (Diabetes mellitus), Disgenet (Senile cataract) Related via 7 shared diseases including Ischemic heart disease, Lung disease — evidence mostly Disgenet.
Amphetamine or sympathomimetic abuse Linked via 4 of 5 related genesGSTM1, PSD3, GSTP1, GSTT1 Schizophrenia Linked via 4 of 5 related genesGSTM1, PSD3, GSTP1, GSTT1 Major depressive disorder Linked via 3 of 5 related genesNAT1, GSTM1, GSTT1 Bronchopulmonary dysplasia Linked via 3 of 5 related genesGSTM1, GSTP1, GSTT1 Renal cell carcinoma Linked via 3 of 5 related genesGSTM1, GSTP1, GSTT1