Thymidine kinase 2, mitochondrial

TK2
Identifiers
Aliases	TK2, MTDPS2, MTTK, SCA31, thymidine kinase 2, mitochondrial, PEOB3, thymidine kinase 2, TK2-EXT
External IDs	OMIM: 188250; MGI: 1913266; HomoloGene: 3392; GeneCards: TK2; OMA:TK2 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	66,552,544 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	104,975,190 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; sural nerve; ; monocyte; ; epithelium of colon; ; left testis; ; right testis; ; adipose tissue; ; right adrenal gland; ; subcutaneous adipose tissue; ; stromal cell of endometrium;
	Top expressed in
	granulocyte; ; superior surface of tongue; ; gallbladder; ; stroma of bone marrow; ; adrenal gland; ; transitional epithelium of urinary bladder; ; spleen; ; neural layer of retina; ; superior frontal gyrus; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; nucleotide binding; deoxycytidine kinase activity; ATP binding; kinase activity; nucleoside kinase activity; thymidine kinase; deoxynucleoside kinase activity; thymidine kinase activity;
Cellular component	mitochondrial matrix; mitochondrion; cytoplasm;
Biological process	pyrimidine nucleoside salvage; thymidine metabolic process; deoxyribonucleoside monophosphate biosynthetic process; nucleotide biosynthetic process; DNA biosynthetic process; nucleobase-containing compound metabolic process; deoxycytidine metabolic process; phosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	7084
	57813
	ENSG00000166548
	ENSMUSG00000035824
	O00142
	Q9R088
NM_001172643; NM_001172644; NM_001172645; NM_001271934; NM_001271935;
	NM_001272050; NM_004614
	NM_021028
NP_001166114; NP_001166115; NP_001166116; NP_001258863; NP_001258864;
	NP_001258979; NP_004605
	n/a
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166548 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035824 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Thymidine kinase 2, mitochondrial".
^ 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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166548 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-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.

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