Entity Details

Primary name TK2
Entity type gene
Source Source Link

Details

PrimaryID7084
RefseqGeneNG_016862
SymbolTK2
Namethymidine kinase 2
Chromosome16
Location16q21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-09-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKITM_HUMAN

GO terms

Show/Hide Table
GOName
GO:0004797 thymidine kinase activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
GO:0006139 nucleobase-containing compound metabolic process
GO:0019136 deoxynucleoside kinase activity
GO:0043097 pyrimidine nucleoside salvage
GO:0071897 DNA biosynthetic process

Diseases

Show/Hide Table
Disease IDSourceNameDescription
617069 OMIMProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3)A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy. The disease is caused by variants affecting the gene represented in this entry.
609560 OMIMMitochondrial DNA depletion syndrome 2 (MTDPS2)A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
TK2DKK1BioGRID, IntAct26186194 28514442 details
TK2CTNNBIP1BioGRID, IntAct28514442 details
TK2GSTK1BioGRID, IntAct28514442 details
TK2RBM4BioGRID26496610 details
TK2ANAPC15BioGRID26496610 details
TK2MRPL9BioGRID26496610 details