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) 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 superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and Metabolism of nucleotides. 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 Summary 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.