InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TK2

Summary

InnateDB Protein

IDBP-378482.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TK2

Protein Name

thymidine kinase 2, mitochondrial

Synonyms

MTDPS2; MTTK;

Species

Homo sapiens

Ensembl Protein

ENSP00000414334

InnateDB Gene

IDBG-34952 (TK2)

Protein Structure

UniProt Annotation

Function

Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.

Subcellular Localization

Mitochondrion.

Disease Associations

Mitochondrial DNA depletion syndrome 2 (MTDPS2) [MIM:609560]: 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. {ECO:0000269PubMed:11687801, ECO:0000269PubMed:12391347, ECO:0000269PubMed:15639197, ECO:0000269PubMed:15907288}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in liver, pancreas, muscle, and brain.

Comments

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: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:0009157	deoxyribonucleoside monophosphate biosynthetic process
GO:0016310	phosphorylation
GO:0043097	pyrimidine nucleoside salvage
GO:0044281	small molecule metabolic process
GO:0055086	nucleobase-containing small molecule metabolic process