Thymidine kinase 2, mitochondrial

Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene.[5]

TK2
Identifiers
AliasesTK2, MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2, TK2-EXT
External IDsOMIM: 188250 MGI: 1913266 HomoloGene: 3392 GeneCards: TK2
Orthologs
SpeciesHumanMouse
Entrez

7084

57813

Ensembl

ENSG00000166548

ENSMUSG00000035824

UniProt

O00142

Q9R088

RefSeq (mRNA)

NM_021028

RefSeq (protein)

n/a

Location (UCSC)Chr 16: 66.51 – 66.55 MbChr 8: 104.95 – 104.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.

This kinase is not present in yeast.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000166548 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000035824 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Thymidine kinase 2, mitochondrial".
  6. Zeman L, Lusena CV (March 1974). "DNA precursors and the absence of thymidine kinase in yeast mitochondria". FEBS Letters. 40 (1): 84–7. doi:10.1016/0014-5793(74)80899-9. PMID 4604357. S2CID 40059011.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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