[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
TISSUE=Liver;
DOI=10.1074/jbc.272.13.8454; PubMed=9079672 [NCBI, ExPASy, EBI, Israel, Japan]
Johansson M.,
Karlsson A.;
"Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2.";
J. Biol. Chem. 272:8454-8458(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), AND SEQUENCE REVISION TO 37 AND 240-241.
Wang L.;
Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] OF 34-266 (ISOFORM LONG), PROTEIN SEQUENCE OF 34-61 (ISOFORM LONG), AND CHARACTERIZATION.
TISSUE=Brain;
DOI=10.1016/S0014-5793(98)01711-6; PubMed=9989599 [NCBI, ExPASy, EBI, Israel, Japan]
Wang L.,
Munch-Petersen B.,
Herrstroem Sjoeberg A.,
Hellman U.,
Bergman T.,
Joernvall H.,
Eriksson S.;
"Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates.";
FEBS Lett. 443:170-174(1999).
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[4]
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VARIANTS MDS ASN-121 AND ASN-212.
DOI=10.1038/ng751; PubMed=11687801 [NCBI, ExPASy, EBI, Israel, Japan]
Saada A.,
Shaag A.,
Mandel H.,
Nevo Y.,
Eriksson S.,
Elpeleg O.;
"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.";
Nat. Genet. 29:342-344(2001).
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[5]
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VARIANTS MDS MET-53; MET-108 AND ASN-121.
PubMed=12391347 [NCBI, ExPASy, EBI, Israel, Japan]
Mancuso M.,
Salviati L.,
Sacconi S.,
Otaegui D.,
Camano P.,
Marina A.,
Bacman S.,
Moraes C.T.,
Carlo J.R.,
Garcia M.,
Garcia-Alvarez M.,
Monzon L.,
Naini A.B.,
Hirano M.,
Bonilla E.,
Taratuto A.L.,
DiMauro S.,
Vu T.H.;
"Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.";
Neurology 59:1197-1202(2002).
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[6]
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VARIANTS MDS MET-108 AND LYS-192, AND CHARACTERIZATION OF VARIANTS MDS MET-108 AND LYS-192.
DOI=10.1016/j.ymgme.2004.09.005; PubMed=15639197 [NCBI, ExPASy, EBI, Israel, Japan]
Wang L.,
Limongelli A.,
Vila M.R.,
Carrara F.,
Zeviani M.,
Eriksson S.;
"Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.";
Mol. Genet. Metab. 84:75-82(2005).
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[7]
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VARIANTS MDS MET-64 AND TRP-183.
DOI=10.1016/j.nmd.2005.03.010; PubMed=15907288 [NCBI, ExPASy, EBI, Israel, Japan]
Tulinius M.,
Moslemi A.-R.,
Darin N.,
Holme E.,
Oldfors A.;
"Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.";
Neuromuscul. Disord. 15:412-415(2005).
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- FUNCTION: Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.
- CATALYTIC ACTIVITY: ATP + thymidine = ADP + thymidine 5'-phosphate.
- SUBUNIT: Monomer.
- SUBCELLULAR LOCATION: Mitochondrion.
- ALTERNATIVE PRODUCTS:
2 named isoforms [FASTA] produced by alternative splicing.
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| Name | Short |
| Isoform ID | O00142-2 |
| Note: No experimental confirmation available. |
| Features which should be applied to build the isoform sequence: VSP_003028. |
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- TISSUE SPECIFICITY: Predominantly expressed in liver, pancreas, muscle, and brain.
- DISEASE: Defects in TK2 are a cause of myopathic mitochondrial DNA depletion syndrome (MDS) [MIM:609560]. MDS is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA (mtDNA) copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and may affect single organs, typically muscle or liver, or multiple tissues. The myopathic form of mtDNA depletion syndrome is a slowly progressive mitochondrial disorder starting in childhood and associated with less severe depletion of mtDNA in skeletal muscle (66 to 86%) compared to the hepatocerebral form of mtDNA depletion syndrome which shows up to 99% mtDNA depletion in liver.
- SIMILARITY: Belongs to the DCK/DGK family.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=TK2";.
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