Human Arylamine N-Acetyltransferase Gene Nomenclature

A Pharmacogene Variation (PharmVar) Consortium Expert Panel on Arylamine N-acetyltransferases transitioned NAT2 allele nomenclature to PharmVar in 2024. Legacy NAT2 content, including alleles that have not been transferred to PharmVar, remains available at the Arylamine N-Acetyltransferases website but will no longer be updated.  The transition was reported and discussed at the 8th International Workshop on the N-acetyltransferases (Workshop report) and the new NAT2 allele nomenclature can be accessed here.  A manuscript describing the transfer was recently published in Clinical Pharmacology and Therapeutics.

The PharmVar expert panel encourages research and clinical professionals to adopt the new PharmVar nomenclature and cross-reference to legacy star allele names as needed to facilitate transition to the new nomenclature. For new submissions of NAT2 alleles, please contact PharmVar at  (https://www.pharmvar.org/submission)

Historical background

A consensus nomenclature for arylamine N-acetyltransferases (EC 2.3.1.5) was first published in 1995  (Pharmacogenetics 5: 1-17, 1995).  A session regarding arylamine N-acetyltransferase gene nomenclature was chaired by Dr. Wendell W. Weber at the First International Workshop for Arylamine N-acetyltransferases held October 22-24, 1998. A number of issues were discussed, including the gene symbol for arylamine N-acetyltransferase, the NAT gene designations in species other than humans, the matter of upper versus lower case for the gene nomenclature, and the method for naming and disseminating nomenclature for newly identified alleles. A consensus was reached to form a arylamine N-acetyltransferase nomenclature committee to assess what changes need to be made in the nomenclature and to serve as a clearing house for naming new arylamine N-acetyltransferase alleles. At the request of the arylamine N-acetyltransferase nomenclature committee, the HUGO nomenclature committee agreed to designate NAT as the official gene symbol of arylamine N-acetyltransferase. Investigators in attendance at the meeting and all other interested investigators of the arylamine N-acetyltransferases were encouraged to make suggestions to the nomenclature committee. The committee was requested to maintain a website providing an up to date listing of arylamine N-acetyltransferase alleles. Investigators who identify new alleles were requested to contact one or all members of the committee in order to designate a consensus name for the new allele. The committee was requested to submit updates of the nomenclature to an appropriate journal for publication and they were published in (Pharmacogenetics 10: 291-292, 2000). 

The committee led nomenclature sessions at subsequent international arylamine N-acetyltransferase workshops. Several updates to the NAT nomenclature were decided at the 2007 meeting, including making the NAT nomenclature species-specific and adding random SNP (rs) identifier numbers and allele function to the human NAT alleles which was published (Pharmacogenetics and Genomics 18: 367-368, 2008). Sotiria Boukouvala agreed to succeed David W. Hein as chair of the NAT nomenclature committee in 2011 and a new and more comprehensive NAT allele website, including non-human species was created at her direction and posted in May 2013 at https://nat.mbg.duth.gr.

International Arylamine N-acetyltransferase Workshops

First International Arylamine N-acetyltransferase Workshop
October 22-24,1998; Kuranda, Australia

Second International Arylamine N-acetyltransferase Workshop
October 5-6, 2001; Oxford, UK

Third International Arylamine N-acetyltransferase Workshop
August 27-28, 2004; Vancouver, Canada

Fourth International Arylamine N-acetyltransferase Workshop
September 14-16, 2007; Alexandroupolis, Greece

Fifth International Arylamine N-acetyltransferase Workshop
September 1-3, 2010; Paris, France 

Sixth International Arylamine N-acetyltransferase Workshop
October 4-6, 2013; Toronto, Canada 

Seventh International Workshop on N-acetyltransferases
June 18-20, 2016; Trier, Germany 

Eighth International Workshop on N-acetyltransferases 
September 25-26, 2024; Columbus, Ohio USA
Workshop report.