• Gene id: 7084

Gene Summary

• Gene Symbol: TK2   Gene   UCSC   Ensembl
• Aliases: MTDPS2, MTTK, PEOB3, SCA31
• Gene name: thymidine kinase 2
• Alternate names: thymidine kinase 2, mitochondrial, thymidine kinase 2, mitochondrial thymidine kinase, mt-TK,
• Gene location: 16q21 (66550411: 66508002)     Exons: 11     NC_000016.10
• Gene summary(Entrez): 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 associ
• OMIM: 609406

Protein Summary

• Protein general information: O00142  
  • Name: Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (Mt TK)
  • Length: 265  
  • Mass: 31005
  • Tissue specificity: Predominantly expressed in liver, pancreas, muscle, and brain.
• Sequence:

  MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATD
  VEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRS
  GKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSL
  FPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP

• Structural information:
  • Interpro: IPR002624  IPR031314  IPR027417  
  • CDD: cd01673
  • STRING: ENSP00000299697
• Other Databases: GeneCards:  TK2  Malacards:  TK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019136	deoxynucleoside kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0019136	deoxynucleoside kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004797	thymidine kinase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0004797	thymidine kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0019206	nucleoside kinase activity	TAS	molecular function
GO:0043097	pyrimidine nucleoside salvage	TAS	biological process
GO:0046104	thymidine metabolic process	IEA	biological process
GO:0004797	thymidine kinase activity	IEA	molecular function
GO:0046092	deoxycytidine metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004137	deoxycytidine kinase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009157	deoxyribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
Mitochondrial DNA depletion syndrome	KEGG:H00469
Autosomal recessive progressive external ophthalmoplegia	KEGG:H01395
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881