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 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3. Among its related pathways are Pyrimidine metabolism (KEGG) and Drug metabolism - cytochrome P450. Gene Ontology (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
Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents.