The TPMT gene homepage

General information
Gene symbol TPMT
Gene name thiopurine S-methyltransferase
Chromosome 6
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_012137.2
Transcript reference NM_000367.2
Exon/intron information NM_000367.2 exon/intron table
Associated with diseases TPMT
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Simran Maggo
Total number of public variants reported 395
Unique public DNA variants reported 72
Individuals with public variants 2873
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's 7th Framework Programme under grant agreement No 200754 - the GEN2PHEN project.
We gratefully acknowledge the work of Sally Coulthard (Newcastle upon Tyne, until end 2014) and Malin Lindqvist Appell (Linköping, until end 2015) for curating the TMPT database.
TPMT reference haplotypes in this database.
Download the current TPMT reference haplotype list (ver.2015-05-19).
Date created April 29, 2010
Date last updated September 17, 2021
Version TPMT:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000367.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL TPMT allele nomenclature committee

HGNC 12014
Entrez Gene 7172
PubMed articles TPMT
OMIM - Gene 187680
OMIM - Diseases TPMT (thiopurine S-methyltransferase deficiency (TPMT))
GeneCards TPMT
GeneTests TPMT
Orphanet TPMT

Active transcripts




NCBI ID     

NCBI Protein ID     

00021695 6 thiopurine S-methyltransferase NM_000367.2 NP_000358.1 395

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.