Gene:

NAT2

N-acetyltransferase 2 (arylamine N-acetyltransferase)

Overview

Details

Curated Annotations ()

1. rs1801279 at chr8:18301984 in NAT2
   Homozygous A allele is slow acetylator phenotype (altered rates of metabolism of arylamines). May be associated with higher risk for bladder cancer and lower risk for colorectal cancer.

   Variant Name:

   NAT2:ARG64GLN; NAT2:191G>A; NAT2:M4; Included in NAT2*14 alleles(A-G).

   Evidence:

   PMID:10667461
   PMID:10971207
   PMID:17434923
   PMID:7668286
   PMID:7920692
   PMID:8102597
   PMID:9156695
   http://louisville.edu/.../Human.NAT2.pdf
   

2. rs1041983 at chr8:18302075 in NAT2
   May be important for rapid vs. slow acetylator phenotype. Historically, homozygous T allele has been defined as rapid acetylator phenotype, but there is conflicting evidence.

   Variant Name:

   NAT2:282C>T

   Evidence:

   PMID:17434923
   http://louisville.edu/.../Human.NAT2.pdf
   

3. rs1041983 at chr8:18302075 in NAT2
   in vitro study; PK: 22-fold reduction in Vmax vs wild type

   Variant Name:

   NAT2:282C>T, one of 2 varriants comprising NAT2*6A

   Related Drugs:

   clonazepam

   Evidence:

   PMID:19356010
   

4. rs1801280 at chr8:18302134 in NAT2
   Homozygotes for the C allele are thought to be slowest acetylator phenotype (altered rates of metabolism of arylamines) of the NAT2 phenotypes, though results from one study indicated requirement for an additional SNP C481T;this is the most strongly associated of the NAT2 polymorphisms with risk of bladder cancer and with adverse drug reactions.

   Variant Name:

   NAT2:ILE114THR; NAT2:341T>C; part of NAT2*5(A-J) named alleles and *14C and *14F

   Related Diseases:

   Urinary Bladder Neoplasms

   Evidence:

   PMID:10667461
   PMID:10971207
   PMID:12351146
   PMID:17434923
   PMID:2068113
   

5. rs1801280 at chr8:18302134 in NAT2
   in vitro study; PK: 20-fold reduction in Vmax vs wild type

   Variant Name:

   NAT2:341T>C, one of 3 variants comprising NAT2*5B

   Related Drugs:

   clonazepam

   Evidence:

   PMID:19356010
   

6. rs4986996 at chr8:18302157 in NAT2
   Homozygous A allele is slow acetylator phenotype.

   Variant Name:

   NAT2:G364A; NAT2:D122N; part of NAT*12D

   Evidence:

   PMID:17434923
   http://louisville.edu/.../Human.NAT2.pdf
   

7. rs4986997 at chr8:18302204 in NAT2
   Homozygous T allele is slow acetylator phenotype.

   Variant Name:

   NAT2:A411T; NAT2:L137F

   Evidence:

   PMID:17434923
   

8. rs1799929 at chr8:18302274 in NAT2
   May be important for acetylator phenotype (altered rates of metabolism of arylamines), but which allele is associated with rapid/slow is controversial.

   Variant Name:

   NAT2:481C>T; included in NAT2*5A, NAT2*5B, NAT2*5F, NAT2*5G, NAT2*5H, NAT2*5I, NAT2*6E, NAT2*11A, NAT2*11B, NAT2*12C, NAT2*14C. T allele defines "M1"(older nomenclature).

   Evidence:

   PMID:17434923
   PMID:7668286
   PMID:7920692
   http://louisville.edu/.../Human.NAT2.pdf
   

9. rs1799929 at chr8:18302274 in NAT2
   in vitro study; PK: 20-fold reduction in Vmax vs wild type

   Variant Name:

   NAT2:481C>T, one of 3 variants comprising NAT2*5B

   Related Drugs:

   clonazepam

   Evidence:

   PMID:19356010
   

10. rs1799930 at chr8:18302383 in NAT2
    Homozygous A allele is slow acetylator phenotype (altered rates of metabolism of arylamines). May be associated with higher risk for bladder cancer and lower risk for colorectal cancer.

    Variant Name:

    NAT2:ARG197GLN;590G>A; part of *5E,*5J,*6(A-E) alleles and*14D. A allele defines "M2" (older nomenclature).

    Evidence:

    PMID:10667461
    PMID:10971207
    PMID:17434923
    PMID:2068113
    PMID:7668286
    PMID:7920692
    http://louisville.edu/.../Human.NAT2.pdf
    

11. rs1799930 at chr8:18302383 in NAT2
    in vitro study; PK: 22-fold reduction in Vmax vs wild type

    Variant Name:

    NAT2:590G>A, one of 2 varriants comprising NAT2*6A

    Related Drugs:

    clonazepam

    Evidence:

    PMID:19356010
    

12. rs1208 at chr8:18302596 in NAT2
    Important for acetylator phenotype (altered rates of metabolism of arylamines), but which allele is associated with rapid/slow is controversial.

    Variant Name:

    NAT2:LYS268ARG; NAT2:803A>G; defines NAT2*12A; part of NAT2*5B, NAT2*5C, NAT2*5F, NAT2*5G, NAT2*5H, NAT2*5I, NAT2*6C, NAT2*12B, NAT2*12C, NAT2*12D, NAT2*14C, NAT2*14E, NAT2*14F, NAT2*14G

    Evidence:

    PMID:15558239
    PMID:17434923
    PMID:7668286
    http://louisville.edu/.../Human.NAT2.pdf
    

13. rs1208 at chr8:18302596 in NAT2
    in vitro study; PK: 20-fold reduction in Vmax vs wild type

    Variant Name:

    NAT2:803A>G, one of 3 variants comprising NAT2*5B

    Related Drugs:

    clonazepam

    Evidence:

    PMID:19356010
    

14. rs1799931 at chr8:18302650 in NAT2
    Important for rapid/slow acetylator status; phenotype may be substrate and concentration dependent.

    Variant Name:

    NAT2:857G>A; NAT2:GLY286GLU; defines NAT2*7A; included in NAT2*7B. A allele defines "M3"(older nomenclature).

    Evidence:

    PMID:10667461
    PMID:10971207
    PMID:17434923
    PMID:7668286
    PMID:7920692
    PMID:8460648
    

15. rs1799931 at chr8:18302650 in NAT2
    Risk or phenotype-associated allele: G Phenotype: The NAT2:rs1799931 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.003 Type of association: CO; TOX

    Variant Name:

    NAT2:rs1799931 A>G; NM_000015.2:c.857G>A; NP_000006.2:p.Gly286Glu

    Related Drugs:

    docetaxel, thalidomide

    Related Diseases:

    Prostatic Neoplasms

    Evidence:

    PMID:20038957
    

Curated Information

The following genes are in curated knowledge about this gene.

	Gene	Relationship	Evidence
	GSTM1	CO          GN	Publications
	GSTM3	CO          GN	Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

PharmGKB Curated Pathways

• Busulfan Pathway

Reactome Pathways†

• Acetylation - (Reactome via Pathway Interaction Database)

Curated Information

The following drugs are in curated knowledge about this gene.

	Drug Class	Relationship	Evidence
	Antihypertensives	PD PK    GN	Publications
	interferons	PK	Publications
	xenobiotics	CO       FA GN	Publications

	Drug	Relationship	Evidence
	aspirin	CO          GN	Publications
	caffeine	PK    GN	Publications
	clonazepam	PK	Publications, Variants
	dapsone	PK    GN	Publications
	dextromethorphan	PK	Publications
	docetaxel	CO    PK    GN	Publications, Variants
	hydralazine	PD PK    GN	Publications
	isoniazid	CO    PK    GN	Publications
	methotrexate	PD       GN	Publications
	procainamide	PK    GN	Publications
	retigabine	PD PK    GN	Publications
	ribavirin	PK	Publications
	sulfamethazine	PK FA GN	Publications
	sulfamethoxazole	PK    GN	Publications
	sulfasalazine	PD PK    GN	Publications
	thalidomide	CO    PK    GN	Publications, Variants

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

	Disease	Relationship	Evidence
	Abnormalities, Drug-Induced	GN	Publications
	Arthritis, Rheumatoid	PD       GN	Publications
	Asthma	CO          GN	Publications
	Cataract	CO          GN	Publications
	Colorectal Neoplasms	CO	Publications
	Cystic Fibrosis	PK	Publications
	Drug Toxicity	CO          GN	Publications
	Drug-induced chronic hepatitis	CO          GN	Publications
	Epilepsy	PD PK    GN	Publications
	Hearing Disorders	CO          GN	Publications
	Hepatitis C, Chronic	PK	Publications
	Liver Diseases	CO          GN	Publications
	Prostatic Neoplasms	CO    PK    GN	Publications, Variants
	Toxic liver disease	GN	Publications
	Tuberculosis	CO    PK    GN	Publications
	Urinary Bladder Neoplasms		Variants

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Curated Phenotype Datasets

These datasets are sorted alphabetically by title.

1. NAT2 Phenotype and Hypersensitivity to Sulfonamides

   • 
   • 
   • 
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   • CO
   • PD
   • PK

   Submitted by Craig K. Svensson, PharmD, PhD involving NAT2, dapsone, and HIV Infections

Additional Datasets

These datasets are minimally curated and are sorted alphabetically by title.

1. Genetic Variants in Isoniazid associated Hepatitis

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LinkOuts

Common Searches

• Comparative Genomics at UCSC
• Search BioCarta and KEGG Pathways at CGAP
• Search Reactome

Non-Curated Publications

A list of non-curated publications that mention this gene is available.