TK2 Chromosome 16
Thymidine kinase 2
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What This Gene Does
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]
Gene Info
Gene Group
Deoxyribonucleoside kinases
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000166548
Associated Conditions (11)
Mitochondrial DNA depletion syndrome
myopathic form
Inborn mitochondrial myopathy
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 3
Inborn genetic diseases
TK2-related disorder
Myopathy
Abnormality of the musculature
Mitochondrial DNA depletion syndrome 2
Key Variants
RS1057520686
Conflicting classifications of pathogenicity
Health Risk
RS1168827071
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Inborn mitochondrial myopathy
Health Risk
RS1194187379
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease
Health Risk
RS1373389153
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome
Health Risk
RS138479499
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS142291440
Conflicting classifications of pathogenicity
Mitochondrial disease, Mitochondrial disease
Health Risk
RS143378852
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome
Health Risk
RS144419486
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome
Health Risk
RS149036717
Conflicting classifications of pathogenicity
Health Risk
RS1567539396
Conflicting classifications of pathogenicity
Mitochondrial disease, Mitochondrial disease
Health Risk
RS191573607
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1965305721
Conflicting classifications of pathogenicity
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1965109135 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS2507068066 | Health Risk | Pathogenic | — |
| RS2507068187 | Health Risk | Pathogenic | — |
| RS2507088209 | Health Risk | Pathogenic | — |
| RS2507091300 | Health Risk | Pathogenic | — |
| RS2507091550 | Health Risk | Pathogenic | — |
| RS2507140681 | Health Risk | Pathogenic | — |
| RS2507216097 | Health Risk | Pathogenic | — |
| RS281865486 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, Mitochondrial DNA depletion syndrome |
| RS281865493 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS281865496 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS281865500 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS281865502 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS281865503 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS281865504 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS281865505 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS281865506 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS281865507 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
| RS543272850 | Health Risk | Pathogenic | — |
| RS746907276 | Health Risk | Pathogenic | — |
| RS773566302 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA depletion syndrome |
| RS886039669 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS886041321 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS886041794 | Health Risk | Pathogenic | — |
| RS970983506 | Health Risk | Pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS973152588 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, Mitochondrial DNA depletion syndrome |
| RS138439950 | Health Risk | Pathogenic/Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, Mitochondrial DNA depletion syndrome |
| RS1567533723 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS1964523180 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial DNA depletion syndrome, myopathic form |
| RS2144339644 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2144356324 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS2507184447 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS2507209157 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281865487 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial DNA depletion syndrome, myopathic form |
| RS281865492 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, Mitochondrial disease, Mitochondrial DNA depletion syndrome |
| RS281865494 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 |
| RS281865497 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS281865499 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, Mitochondrial disease, Mitochondrial DNA depletion syndrome |
| RS281865501 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial disease |
| RS768548319 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome, myopathic form, Progressive external ophthalmoplegia with mitochondrial DNA deletions |