InnateDB Protein
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IDBP-598473.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TK2
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Protein Name
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thymidine kinase 2, mitochondrial
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Synonyms
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MTDPS2; MTTK;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000435312
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InnateDB Gene
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IDBG-34952 (TK2)
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Protein Structure
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Function |
Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs.
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Subcellular Localization |
Mitochondrion.
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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.
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Tissue Specificity |
Predominantly expressed in liver, pancreas, muscle, and brain.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
GO:0006139
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nucleobase-containing compound metabolic process
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GO:0006206
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pyrimidine nucleobase metabolic process
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GO:0009157
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deoxyribonucleoside monophosphate biosynthetic process
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GO:0016310
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phosphorylation
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GO:0043097
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pyrimidine nucleoside salvage
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GO:0044281
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small molecule metabolic process
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GO:0055086
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nucleobase-containing small molecule metabolic process
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Cellular Component |
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PDB ID |
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InterPro |
IPR002624
Deoxynucleoside kinase
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF01712
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PRINTS |
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PIRSF |
PIRSF000705
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O00142
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PhosphoSite |
PhosphoSite-O00142
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TrEMBL |
J3QL12
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UniProt Splice Variant |
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Entrez Gene |
7084
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UniGene |
Hs.713895
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RefSeq |
NP_001166114
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HUGO |
HGNC:11831
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OMIM |
188250
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CCDS |
CCDS54018
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HPRD |
01770
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IMGT |
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EMBL |
AC010542
AK294627
AK302976
AK316226
BC134344
CH471092
U77088
Y10498
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GenPept |
AAC51167
AAI34345
BAG57808
BAG64119
BAH14597
CAA71523
EAW83013
EAW83015
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