Aliases for TK2 Gene
External Ids for TK2 Gene
Previous GeneCards Identifiers for TK2 Gene
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]
GeneCards Summary for TK2 Gene
TK2 (Thymidine Kinase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with TK2 include Mitochondrial Dna Depletion Syndrome 2 and Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form. Among its related pathways are Pyrimidine metabolism (KEGG) and Purine metabolism. GO annotations related to this gene include nucleoside kinase activity and thymidine kinase activity. An important paralog of this gene is DCK.
UniProtKB/Swiss-Prot for TK2 Gene
Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.