Identity
HGNC
LOCATION
16q21
LOCUSID
ALIAS
MTDPS2,MTTK,PEOB3,SCA31
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7084
MIM: 188250
HGNC: 11831
Ensembl: ENSG00000166548
Variants:
dbSNP: 7084
ClinVar: 7084
TCGA: ENSG00000166548
COSMIC: TK2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35084690 | 2023 | Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)(n). | 2 |
| 35084690 | 2023 | Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)(n). | 2 |
| 34758700 | 2022 | Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis. | 1 |
| 35907766 | 2022 | Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study. | 2 |
| 34758700 | 2022 | Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg(2+) binding and catalysis. | 1 |
| 35907766 | 2022 | Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study. | 2 |
| 29602790 | 2018 | Retrospective natural history of thymidine kinase 2 deficiency. | 43 |
| 29735374 | 2018 | Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. | 23 |
| 29602790 | 2018 | Retrospective natural history of thymidine kinase 2 deficiency. | 43 |
| 29735374 | 2018 | Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. | 23 |
| 28729369 | 2017 | Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant. | 3 |
| 28729369 | 2017 | Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant. | 3 |
| 25948719 | 2015 | Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. | 11 |
| 25948719 | 2015 | Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. | 11 |
| 24940680 | 2014 | Mitochondrial thymidine kinase 2 but not deoxyguanosine kinase is up-regulated during the stationary growth phase of cultured cells. | 3 |
Citation
Dessen P
TK2 (thymidine kinase 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/42577/tk2-(thymidine-kinase-2)
