TK2

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]

Description

Thymidine kinase 2

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (66508003 - 66552544)

Ensembl ID

ENSG00000166548  (ver. 103.38)

Orthologs

Mouse Tk2: ENSMUSG00000035824

UniProt

O00142

neXtProt

NX_O00142

Human splice variants
Mouse splice variants

Protein structure