NAT2

Chr 8AR

N-acetyltransferase 2

Also known as: AAC2, NAT-2, PNAT

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Acetylation, slow]MIM #243400
AR
2
Active trials
92
Pubs (1 yr)
P/LP submissions
P/LP missense
1.79
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.22
OE 1.09 (0.631.79)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.38Z-score
OE missense 1.32 (1.171.49)
196 obs / 148.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.631.79)
00.351.4
Missense OE?1.32 (1.171.49)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 8 / 7.4Missense obs/exp: 196 / 148.6Syn Z: -0.14

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

NAT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.