TK2
Summary: This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:188250 Ensembl IDEnsembl:ENSG00000166548 HGNC IDHGNC:HGNC:11831 PHARMGKB IDPA36535 Map Location16q21 | |||||
GO terms in TK2
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006139 | nucleobase-containing compound metabolic process |
| BP | IEA | GO:0009157 | deoxyribonucleoside monophosphate biosynthetic process |
| BP | IEA | GO:0009165 | nucleotide biosynthetic process |
| BP | IEA | GO:0016310 | phosphorylation |
| BP | TAS | GO:0043097 | pyrimidine nucleoside salvage |
| BP | IEA | GO:0046092 | deoxycytidine metabolic process |
Gene expression in normal tissue: TK2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TK2
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00240 | Pyrimidine metabolism - Homo sapiens (human) |
| kegg | hsa00983 | Drug metabolism - other enzymes - Homo sapiens (human) |
| humancyc | PWY-7199 | pyrimidine deoxyribonucleosides salvage |
| humancyc | PWY-7200 | superpathway of pyrimidine deoxyribonucleoside salvage |
| wikipathways | WP4022 | Pyrimidine metabolism |
| reactome | R-HSA-1430728 | Metabolism |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TK2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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