TPMT


Summary: This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
thiopurine S-methyltransferaseMIM:187680Ensembl:ENSG00000137364HGNC:HGNC:12014PA3566p22.3

Gene Categories:

DRUGGABLE GENOME

GO terms in TPMT


Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0008119thiopurine S-methyltransferase activity
MFIDAGO:0008119thiopurine S-methyltransferase activity
MFTASGO:0008119thiopurine S-methyltransferase activity
MFIDAGO:1904047S-adenosyl-L-methionine binding
BPTASGO:0006139nucleobase-containing compound metabolic process
BPIDAGO:0017144drug metabolic process
BPTASGO:0032259methylation
CCTASGO:0005829cytosol

Gene expression in normal tissue: TPMT

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TPMT


DatabasePathway IDPathway Des.
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-156580Phase II - Conjugation of compounds
reactomeR-HSA-156581Methylation
reactomeR-HSA-1643685Disease
reactomeR-HSA-211859Biological oxidations
reactomeR-HSA-5578995Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)
reactomeR-HSA-5579029Metabolic disorders of biological oxidation enzymes
reactomeR-HSA-5668914Diseases of metabolism
wikipathwaysWP702Metapathway biotransformation Phase I and II
wikipathwaysWP704Methylation Pathways
smpdbSMP00427Azathioprine Action Pathway
smpdbSMP00428Mercaptopurine Action Pathway
smpdbSMP00430Thioguanine Action Pathway
smpdbSMP00609Mercaptopurine Metabolism Pathway
pharmgkbPA2040Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics
kegghsa00983Drug metabolism - other enzymes - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD284Palbociclib2
iGMDRD160Cis-Platin6
iGMDRD195Mercaptopurine6
iGMDRD217Thioguanine6

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TPMT

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