Gene table of TPMT : thiopurine S-methyltransferase

Gene-disease associations table

Disease IDDisease nameSource of annotation with TPMTOMIM linkNumber of associated genesgenes
PS610460THIOPURINES, POOR METABOLISM OFClinVar, OMIM, HUMSAVAR link to OMIM 2NUDT15, TPMT

Download the gene annotation in CSV format

Annotation of the gene TPMT

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Drug metabolism - other enzymeshsa009837.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Biological oxidationsR-HSA-2118595.55
MethylationR-HSA-1565819.66
Phase II conjugationR-HSA-1565806.52
Diseases of metabolismR-HSA-56689146.57
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)R-HSA-557899512.98
MetabolismR-HSA-14307282.34
Metabolic disorders of biological oxidation enzymesR-HSA-55790297.85
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
thiopurine S-methyltransferase activityGO:00081199.05
S-methyltransferase activityGO:00081727.66
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
transferase activity, transferring one-carbon groupsGO:00167414.3
S-adenosylmethionine-dependent methyltransferase activityGO:00087574.81
methyltransferase activityGO:00081684.35