Free for academic non-profit institutions. Other users need a Commercial license
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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Caffeine Pathway, Pharmacokinetics |
.01
|
|
2 | Drug metabolism - cytochrome P450 | ||
3 | Cytochrome P450 - arranged by substrate type | ||
4 | Metabolism |
.40
|
|
5 | Busulfan Pathway, Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006805 | xenobiotic metabolic process | TAS | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 | ||||
Acetylisoniazid |
|
1078-38-2 | ||||
Paraxanthine |
|
611-59-6 | ||||
2,4-Diamino-6-nitrotoluene |
|
|
||||
3-Aminosalicylic acid |
|
570-23-0 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NAT2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nat1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nat1 30 17 31 |
|
ManyToMany | |
Nat2 31 |
|
ManyToMany | |||
Nat3 31 |
|
ManyToMany | |||
Cow (Bos Taurus) |
Mammalia | NAT1 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | PNAT10 31 |
|
ManyToMany | |
PNAT3 31 |
|
ManyToMany | |||
NAT 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-78a14.4 31 |
|
ManyToMany | |
si:dkey-78a14.5 31 |
|
ManyToMany | |||
zgc:101040 31 |
|
ManyToMany | |||
zgc:103601 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
CSA.3273 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
acetylation, slow |
|
|
drug-induced hepatitis |
|
|
1,4-phenylenediamine allergic contact dermatitis |
|
|
multiple chemical sensitivity |
|
|
pulmonary tuberculosis |
|
|