Gene: TK2

Alternate names for this Gene: MTDPS2|MTTK|PEOB3|SCA31

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q21

Description of this Gene: thymidine kinase 2

Type of Gene: protein-coding

rs281865494 in TK2 gene and Depletion of mitochondrial DNA PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

PMID 16504786 2006 New mutations in TK2 gene associated with mitochondrial DNA depletion.

rs137854429 in TK2 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) PMID 12493767 2003 Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.

PMID 15907288 2005 Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

PMID 15639197 2005 Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

PMID 12391347 2002 Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

PMID 11687801 2001 Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

PMID 22345218 2012 Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

PMID 21937588 2012 Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

rs281865495 in TK2 gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 PMID 21937588 2012 Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.