TK2, Official Symbol TK2provided by HGNC Official Full Name thymidine kinase 2provided by HGNC Primary source HGNC:HGNC:11831 See related Ensembl:ENSG00000166548 MIM:188250; AllianceGenome:HGNC:11831 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MTTK; PEOB3; SCA31; MTDPS2; TK2-EXT 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] Expression Ubiquitous expression in fat (RPKM 14.4), testis (RPKM 9.6) and 25 other tissues See more Orthologs mouse all