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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| thiopurine S-methyltransferase | MIM:187680 | Ensembl:ENSG00000137364 | HGNC:HGNC:12014 | PA356 | 6p22.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in TPMT
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0008119 | thiopurine S-methyltransferase activity |
| MF | IDA | GO:0008119 | thiopurine S-methyltransferase activity |
| MF | TAS | GO:0008119 | thiopurine S-methyltransferase activity |
| MF | IDA | GO:1904047 | S-adenosyl-L-methionine binding |
| BP | TAS | GO:0006139 | nucleobase-containing compound metabolic process |
| BP | IDA | GO:0017144 | drug metabolic process |
| BP | TAS | GO:0032259 | methylation |
| CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: TPMT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TPMT
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-156580 | Phase II - Conjugation of compounds |
| reactome | R-HSA-156581 | Methylation |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-211859 | Biological oxidations |
| reactome | R-HSA-5578995 | Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) |
| reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| wikipathways | WP702 | Metapathway biotransformation Phase I and II |
| wikipathways | WP704 | Methylation Pathways |
| smpdb | SMP00427 | Azathioprine Action Pathway |
| smpdb | SMP00428 | Mercaptopurine Action Pathway |
| smpdb | SMP00430 | Thioguanine Action Pathway |
| smpdb | SMP00609 | Mercaptopurine Metabolism Pathway |
| pharmgkb | PA2040 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics |
| kegg | hsa00983 | Drug metabolism - other enzymes - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD284 | Palbociclib | 2 |
| iGMDRD160 | Cis-Platin | 6 |
| iGMDRD195 | Mercaptopurine | 6 |
| iGMDRD217 | Thioguanine | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TPMT
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