TK2 thymidine kinase 2
Gene ID: 7084, updated on 2-May-2024Gene type: protein coding
Also known as: MTTK; PEOB3; SCA31; MTDPS2; TK2-EXT
- See all available tests in GTR for this gene
- Go to complete Gene record for TK2
- Go to Variation Viewer for TK2 variants
Summary
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]
Associated conditions
Genomic context
- Location:
- 16q21
- Sequence:
- Chromosome: 16; NC_000016.10 (66508003..66550291, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TK2 homepage
- Variation ViewerRelated Variants
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