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 |
|---|---|---|---|---|---|
OMIM IDMIM:187680 Ensembl IDEnsembl:ENSG00000137364 HGNC IDHGNC:HGNC:12014 PHARMGKB IDPA356 Map Location6p22.3 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TPMT
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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