NAT2 N-acetyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NAT2provided by HGNC
Official Full Name: N-acetyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:7646
See related: Ensembl:ENSG00000156006 MIM:612182; AllianceGenome:HGNC:7646
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AAC2; PNAT; NAT-2
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, 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]
Annotation information: Note: Loci in other organisms that are functionally homologous to this one are validly referred to as both NAT1 and NAT2; i.e., the functional homologs of NAT1 include mouse and rat Nat2, while the functional homologs of human NAT2 include mouse and rat Nat1. Name:sequence associations are consistent with current use in the field. [13 Feb 2013]
Expression: Biased expression in liver (RPKM 16.4), duodenum (RPKM 11.9) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 8p22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (18386301..18401218)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (18654127..18668742)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (18248792..18258728)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LINC00520 promotes colorectal cancer progression through miRNA-195-3p / NAT2 axis.
Title: LINC00520 promotes colorectal cancer progression through miRNA-195-3p / NAT2 axis.
Drug-induced hepatotoxicity and association with slow acetylation variants NAT2*5 and NAT2*6 in Cameroonian patients with tuberculosis and HIV co-infection.
Title: Drug-induced hepatotoxicity and association with slow acetylation variants NAT2*5 and NAT2*6 in Cameroonian patients with tuberculosis and HIV co-infection.
Influence of N-acetyltransferase 2 polymorphisms and clinical variables on liver function profile of tuberculosis patients.
Title: Influence of N-acetyltransferase 2 polymorphisms and clinical variables on liver function profile of tuberculosis patients.
Relevance of NAT2 genotype and clinical factors to risk for antituberculosis drug-induced liver injury.
Title: Relevance of NAT2 genotype and clinical factors to risk for antituberculosis drug-induced liver injury.
Evaluating interactions of polygenic risk scores and NAT2 genotypes with tobacco smoking in bladder cancer risk.
Title: Evaluating interactions of polygenic risk scores and NAT2 genotypes with tobacco smoking in bladder cancer risk.
The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
Title: The impact of IDH and NAT2 gene polymorphisms in acute myeloid leukemia risk and overall survival in an Arab population: A case-control study.
A case-control study in NAT2 gene polymorphism studies in patients diagnosed with acute myeloid leukemia.
Title: A case-control study in NAT2 gene polymorphism studies in patients diagnosed with acute myeloid leukemia.
Discovery of a novel genetic variant in the N-acetyltransferase2 (NAT2) gene that is associated with bladder cancer risk.
Title: Discovery of a novel genetic variant in the N-acetyltransferase2 (NAT2) gene that is associated with bladder cancer risk.
Induction of glucose production by heterocyclic amines is dependent on N-acetyltransferase 2 genetic polymorphism in cryopreserved human hepatocytes.
Title: Induction of glucose production by heterocyclic amines is dependent on N-acetyltransferase 2 genetic polymorphism in cryopreserved human hepatocytes.
N -acetyltransferase 2 haplotype modifies risks for both dyslipidemia and urinary bladder cancer.
Title: N -acetyltransferase 2 haplotype modifies risks for both dyslipidemia and urinary bladder cancer.

Submit: New GeneRIF Correction See all GeneRIFs (441)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Slow acetylator due to N-acetyltransferase enzyme variant MedGen: C0878587 OMIM: 243400 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of metabolic traits in human urine. EBI GWAS Catalog EBI GWAS CatalogPubMed
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC310725P3 (e-PCR)
- UniSTS:272646

GDB:310612 (e-PCR)
- UniSTS:156422

GDB:310613 (e-PCR)
- UniSTS:156423

NAT2_957 (e-PCR)
- UniSTS:277522

WIAF-2120 (e-PCR)
- UniSTS:44576

GDB:187676 (e-PCR)
- UniSTS:155563

G06461 (e-PCR)
- UniSTS:17088

GDB:386004 (e-PCR)
- UniSTS:157141

G59899 (e-PCR)
- UniSTS:137181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-hydroxyarylamine O-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables arylamine N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arylamine N-acetyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: arylamine N-acetyltransferase 2

Names: N-acetyltransferase 2 (arylamine N-acetyltransferase); N-acetyltransferase type 2; N-hydroxyarylamine O-acetyltransferase; arylamide acetylase 2

NP_000006.2

EC 2.3.1.118

EC 2.3.1.5

XP_016868427.1

EC 2.3.1.118

EC 2.3.1.5

XP_054215488.1

EC 2.3.1.118

EC 2.3.1.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.