Thymidine kinase 2, mitochondrial

Last updated
TK2
Identifiers
Aliases TK2 , MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2
External IDs OMIM: 188250 MGI: 1913266 HomoloGene: 3392 GeneCards: TK2
Gene location (Human)
Ideogram human chromosome 16.svg
Chr. Chromosome 16 (human) [1]
Human chromosome 16 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 16q21Start66,508,003 bp [1]
End66,552,544 bp [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_021028

RefSeq (protein)

n/a

Location (UCSC) Chr 16: 66.51 – 66.55 Mb Chr 8: 104.23 – 104.25 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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]

Related Research Articles

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SH3BP5

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TBRG4

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DTYMK

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TIMM44

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AK3L1

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MRPS16

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UBL5

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TIMM17A

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TIMM9

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TIMM22

Mitochondrial import inner membrane translocase subunit Tim22 is an enzyme that in humans is encoded by the TIMM22 gene.

ADCK3

aarF domain containing kinase 3 is a protein that in humans is encoded by the ADCK3 gene.

ATPAF1

ATP synthase mitochondrial F1 complex assembly factor 1, also known as ATP11 homolog, is a protein that in humans is encoded by the ATPAF1 gene.

SLC25A16

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FASTKD5

FAST kinase domain-containing protein 5 (FASTKD5) is a protein that in humans is encoded by the FASTKD5 gene on chromosome 20. This protein is part of the FASTKD family, which is known for regulating the energy balance of mitochondria under stress. FASTKD5 is also required for RNA granules to process precursor mRNAs not flanked by tRNAs.

NT5M

5',3'-nucleotidase, mitochondrial, also known as 5'(3')-deoxyribonucleotidase, mitochondrial (mdN) or deoxy-5'-nucleotidase 2 (dNT-2), is an enzyme that in humans is encoded by the NT5M gene. This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith–Magenis syndrome region on chromosome 17.

MTHFD2L

NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein (MTHFD2L), also known as bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, is an enzyme that in humans is encoded by the MTHFD2L gene on chromosome 4. This enzyme localizes to the inner mitochondrial membrane, where it performs the NADP+-dependent dehydrogenase/cyclohydrolase activity as part of the mitochondrial pathway to convert folate to formate. It is associated with fluctuations in cytokine secretion in response to viral infections and vaccines.

Carbonic anhydrase 5A, mitochondrial

Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000166548 - Ensembl, May 2017
  2. 1 2 3 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.