Homo sapiens Gene: TK2
Summary
InnateDB Gene IDBG-34952.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TK2
Gene Name thymidine kinase 2, mitochondrial
Synonyms MTDPS2; MTTK;
Species Homo sapiens
Ensembl Gene ENSG00000166548
Encoded Proteins
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
thymidine kinase 2, mitochondrial
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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. [provided by RefSeq, Dec 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:66508003-66552544
Strand Reverse strand
Band q21
Transcripts
ENST00000299697 ENSP00000299697
ENST00000417693 ENSP00000407469
ENST00000451102 ENSP00000414334
ENST00000527800 ENSP00000433770
ENST00000527284 ENSP00000435312
ENST00000525974 ENSP00000434594
ENST00000545043 ENSP00000438143
ENST00000544898 ENSP00000440898
ENST00000564792
ENST00000562552
ENST00000565729
ENST00000568170
ENST00000564917 ENSP00000455187
ENST00000567357 ENSP00000457959
ENST00000563478 ENSP00000462341
ENST00000563099
ENST00000563369 ENSP00000463560
ENST00000561905 ENSP00000462721
ENST00000562484 ENSP00000463326
ENST00000569718 ENSP00000464313
ENST00000620035 ENSP00000483833
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0004137 deoxycytidine kinase activity
GO:0004797 thymidine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016773 phosphotransferase activity, alcohol group as acceptor
GO:0019206 nucleoside kinase activity
Biological Process
GO:0006139 nucleobase-containing compound metabolic process
GO:0006206 pyrimidine nucleobase metabolic process
GO:0006264 mitochondrial DNA replication
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process
GO:0009262 deoxyribonucleotide metabolic process
GO:0016310 phosphorylation
GO:0032042 mitochondrial DNA metabolic process
GO:0043097 pyrimidine nucleoside salvage
GO:0044281 small molecule metabolic process
GO:0046092 deoxycytidine metabolic process
GO:0046104 thymidine metabolic process
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mitotic G1-G1/S phases pathway
Pyrimidine salvage reactions pathway
G1/S Transition pathway
G1/S-Specific Transcription pathway
Cell Cycle pathway
Pyrimidine metabolism pathway
Metabolism of nucleotides pathway
E2F mediated regulation of DNA replication pathway
Cell Cycle, Mitotic pathway
Metabolism pathway
KEGG
Pyrimidine metabolism pathway
Drug metabolism pathway
INOH
Pyrimidine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.512619 Hs.713895
RefSeq NM_001172643 NM_001172644 NM_001172645 NM_001271934 NM_001271935 NM_001272050 NM_004614
HUGO
OMIM
CCDS CCDS10805 CCDS54016 CCDS54017 CCDS54018 CCDS61955
HPRD 01770
IMGT
EMBL
GenPept
RNA Seq Atlas