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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
thymidine kinase 2, mitochondrialMIM:188250Ensembl:ENSG00000166548HGNC:HGNC:11831PA3653516q21

Gene Categories:

KINASEDRUGGABLE GENOME

GO terms in TK2


Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0006139nucleobase-containing compound metabolic process
BPIEAGO:0009157deoxyribonucleoside monophosphate biosynthetic process
BPIEAGO:0009165nucleotide biosynthetic process
BPIEAGO:0016310phosphorylation
BPTASGO:0043097pyrimidine nucleoside salvage
BPIEAGO:0046092deoxycytidine metabolic process
BPIEAGO:0046104thymidine metabolic process
BPIEAGO:0071897DNA biosynthetic process
CCIBAGO:0005737cytoplasm
CCIBAGO:0005739mitochondrion
CCTASGO:0005759mitochondrial matrix
MFIEAGO:0004137deoxycytidine kinase activity
MFIEAGO:0004797thymidine kinase activity
MFIEAGO:0005524ATP binding
MFIBAGO:0019136deoxynucleoside kinase activity
MFTASGO:0019206nucleoside kinase activity

Gene expression in normal tissue: TK2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TK2


DatabasePathway IDPathway Des.
kegghsa00240Pyrimidine metabolism - Homo sapiens (human)
kegghsa00983Drug metabolism - other enzymes - Homo sapiens (human)
humancycPWY-7199pyrimidine deoxyribonucleosides salvage
humancycPWY-7200superpathway of pyrimidine deoxyribonucleoside salvage
wikipathwaysWP4022Pyrimidine metabolism
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-15869Metabolism of nucleotides
reactomeR-HSA-73614Pyrimidine salvage
reactomeR-HSA-8956321Nucleotide salvage

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TK2

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