Version: 8.0.0
Date: Tue Jan 28 2025
TK2
Homo sapiensHGNC:11831
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TK2

Species
Homo sapiens
Symbol
TK2
Name
thymidine kinase 2
Synonyms
  • 2'-deoxyuridine kinase TK2
  • deoxycytidine kinase TK2
Biotype
protein coding gene
Automated Description
Enables deoxycytidine kinase activity and thymidine kinase activity. Predicted to be involved in pyrimidine nucleoside salvage. Predicted to act upstream of or within deoxyribonucleotide metabolic process and mitochondrial DNA replication. Is active in mitochondrion. Implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 and mitochondrial DNA depletion syndrome 2.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10513
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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        Experimental condition
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          TK2 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            TK2 role
            TK2 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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