Thymidine kinase 2, mitochondrial

thymidine kinase 2, mitochondrial
Identifiers
Aliases	TK2, MTDPS2, MTTK, SCA31
External IDs	MGI: 1913266 HomoloGene: 3392 GeneCards: 7084
Gene ontology Molecular function • transferase activity • nucleotide binding • thymidine kinase activity • nucleoside kinase activity • deoxycytidine kinase activity • ATP binding • kinase activity Cellular component • mitochondrial matrix • mitochondrion Biological process • pyrimidine nucleoside salvage • thymidine metabolic process • deoxyribonucleoside monophosphate biosynthetic process • nucleotide biosynthetic process • DNA biosynthetic process • pyrimidine nucleobase metabolic process • nucleobase-containing compound metabolic process • deoxycytidine metabolic process • small molecule metabolic process • nucleobase-containing small molecule metabolic process • phosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7084	57813
Ensembl	ENSG00000166548	ENSMUSG00000035824
UniProt	O00142	Q9R088
RefSeq (mRNA)	NR_073521 NM_001172643 NM_001172644 NM_001172645 NM_001271934 NM_001271935 NM_001272050 NM_004614 NR_073520	NM_021028 NR_045642 XM_006531233 XM_006531234 XM_006531235 XM_011248460 XM_011248461
RefSeq (protein)	NP_001166114.1 NP_001166115.1 NP_001258864.1 NP_001258979.1 NP_004605.4	n/a
Location (UCSC)	Chr 16: 66.51 – 66.55 Mb	Chr 8: 104.23 – 104.25 Mb
PubMed search
Wikidata

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Thymidine kinase 2, mitochondrial is a protein that in humans is encoded by the TK2 gene. ^[1]

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.

References

1. "Entrez Gene: Thymidine kinase 2, mitochondrial". Retrieved 2016-03-19.

Further reading

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