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GeneE
27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TPMT
thiopurine S-methyltransferase
Chromosome 6 · 6p22.3
NCBI Gene: 7172Ensembl: ENSG00000137364.6HGNC: HGNC:12014UniProt: P51580
313PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingthiopurine S-methyltransferase activityS-adenosyl-L-methionine bindingxenobiotic metabolic processthiopurine S-methyltransferase deficiencyagingneurodegenerative diseaseinborn errors of metabolism
✦AI Summary

TPMT (thiopurine S-methyltransferase) is a cytoplasmic phase II metabolic enzyme that catalyzes S-methylation of thiopurine drugs including 6-mercaptopurine, 6-thioguanine, and azathioprine using S-adenosyl-L-methionine as the methyl donor 1. TPMT activity modulates the cytotoxic effects of these prodrugs, with no endogenous substrate yet identified. The enzyme is expressed predominantly in liver and kidney tissue 1. TPMT exhibits monogenic codominant inheritance, with variant alleles associated with reduced enzyme activity and pronounced pharmacologic effects 2. Genetic polymorphisms in TPMT are the principal determinant of TPMT phenotype, with chromosome 6 variants showing strongest associations with activity levels 3. Loss-of-function TPMT alleles predispose patients to myelosuppression and bone-marrow depression during thiopurine therapy 4. Clinical implementation of TPMT genotyping is essential before thiopurine initiation to enable personalized dosing 24. Ethnic variation in TPMT polymorphism frequencies is significant, with important implications for thiopurine-treated populations including those with acute lymphoblastic leukemia and autoimmune diseases 15. Current guidelines recommend 50% dose reductions for intermediate metabolizers and 10% for poor metabolizers of thiopurines 4.

Sources cited
1
TPMT catalyzes methylation of thiopurine drugs; expressed predominantly in liver and kidney; acts as shield against toxic effects of these drugs
PMID: 26297310
2
TPMT exhibits monogenic codominant inheritance; variant alleles associated with low enzyme activity and pronounced pharmacologic effects
PMID: 30447069
3
TPMT polymorphisms on chromosome 6 are the principal determinant of TPMT activity; genotyping rationale for routine clinical practice
PMID: 27770449
4
Genotyping for TPMT is essential before thiopurine initiation; dose reduction recommendations for intermediate and poor metabolizers; variant alleles associated with bone-marrow depression
PMID: 41318725
5
TPMT inactivates thiopurines; no-function variants associated with drug-induced myelosuppression; ethnic variation in variant frequencies
PMID: 38230823
Disease Associationsⓘ20
thiopurine S-methyltransferase deficiencyOpen Targets
0.51Moderate
agingOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
inborn errors of metabolismOpen Targets
0.37Weak
cancerOpen Targets
0.29Weak
neuroinflammatory disorderOpen Targets
0.16Weak
atrial fibrillationOpen Targets
0.10Weak
atrial flutterOpen Targets
0.08Suggestive
Decreased total leukocyte countOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
colon carcinomaOpen Targets
0.07Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
essential thrombocythemiaOpen Targets
0.04Suggestive
thrombocythemia 2Open Targets
0.04Suggestive
acute myelomonocytic leukemiaOpen Targets
0.04Suggestive
Autoimmune HepatitisOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
primary biliary cirrhosisOpen Targets
0.04Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
systemic sclerodermaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UGT1A4Protein interaction98%UGT1A8Protein interaction98%UGT1A6Protein interaction98%UGT1A1Protein interaction97%UGT1A7Protein interaction97%UGT1A10Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Brain
46%
Heart
39%
Bone Marrow
31%
Lung
16%
Ovary
9%
Gene Interaction Network
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TPMTUGT1A4UGT1A8UGT1A6UGT1A1UGT1A7UGT1A10
PROTEIN STRUCTURE
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PDB2BZG · 1.58 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.39–0.82]
RankingsWhere TPMT stands among ~20K protein-coding genes
  • #1,089of 20,598
    Most Researched313 · top 10%
  • #6,976of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedTPMT
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.
PMID: 30447069
Clin Pharmacol Ther · 2019
1.00
2
Additive effects of TPMT and NUDT15 on thiopurine toxicity in children with acute lymphoblastic leukemia across multiethnic populations.
PMID: 38230823
J Natl Cancer Inst · 2024
0.90
3
Establishment of a novel predictive model for thiopurine-induced leucopenia based on the polymorphisms in the DNA-thioguanine nucleotide metabolite pathway in Chinese patients with inflammatory bowel disease.
PMID: 40774024
Drug Metab Dispos · 2025
0.80
4
PMID: 36946340
Pharmacogenomics · 2023
0.80
5
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism.
PMID: 8561894
DNA Cell Biol · 1996
0.76