TK2
entrez
7084
canonical
uniprot
O00142
canonical
ensembl
ENSG00000166548
resolver
ensp
ENSP00000407469
resolver
ensp
ENSP00000414334
resolver
ensp
ENSP00000434594
resolver
ensp
ENSP00000438143
resolver
ensp
ENSP00000440898
resolver
ensp
ENSP00000464313
resolver
enst
ENST00000569718
resolver
genesymbol
TK2
resolver
hgnc
HGNC:11831
resolver
uniprot
A4IF54
resolver
uniprot
A5PLM0
resolver
uniprot
B4DGJ7
resolver
uniprot
B4DIW4
resolver
uniprot
B4DZK7
resolver
uniprot
B4E0Z4
resolver
uniprot
B7ZAB1
resolver
uniprot
E5KNQ5
resolver
uniprot
E9PH08
resolver
uniprot
J3QRP0
resolver
uniprot
O15238
resolver
uniprot
Q8IZR3
resolver
uniprot_entry
A4IF54_HUMAN
resolver
uniprot_entry
A5PLM0_HUMAN
resolver
uniprot_entry
B4DIW4_HUMAN
resolver
uniprot_entry
B4E0Z4_HUMAN
resolver
uniprot_entry
J3QRP0_HUMAN
resolver
uniprot_entry
KITM_HUMAN
resolver
uniprot_entry
Q8IZR3_HUMAN
resolver
uniprot_sec
B4DGJ7
resolver
uniprot_sec
B4DZK7
resolver
uniprot_sec
B7ZAB1
resolver
uniprot_sec
E5KNQ5
resolver
uniprot_sec
E9PH08
resolver
uniprot_sec
O15238
resolver
amino_acid_sequence
MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPPDKEQEKEKKSVICVEGNIASGKTTCLEFFSNATDVEVLTEPVSKWRNVRGHNPLGLMYHDASRWGLTLQTYVQLTMLDRHTRPQVSSVRLMERSIHSARYIFVENLYRSGKMPEVDYVVLSEWFDWILRNMDVSVDLIVYLRTNPETCYQRLKKRCREEEKVIPLEYLEAIHHLHEEWLIKGSLFPMAAPVLVIEADHHMERMLELFEQNRDRILTPENRKHCP
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11687801, ECO:0000269|PubMed:12391347, ECO:0000269|PubMed:15639197, ECO:0000269|PubMed:15907288, ECO:0000269|PubMed:25446393}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3) [MIM:617069]: 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. {ECO:0000269|PubMed:21937588}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.-
uniprot
proteins
ec_number
2.7.1.21
uniprot
proteins
ec_number
2.7.1.74
uniprot
proteins
function
FUNCTION: Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK (PubMed:9989599). Widely used as target of antiviral and chemotherapeutic agents (PubMed:9989599). {ECO:0000269|PubMed:11687801, ECO:0000269|PubMed:9989599}.
uniprot
proteins
mass_dalton
31005
uniprot
proteins
protein_family
DCK/DGK family
uniprot
proteins
pubmed
11687801
uniprot
proteins
pubmed
12391347
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
15639197
uniprot
proteins
pubmed
15907288
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
21937588
uniprot
proteins
pubmed
25446393
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
9079672
uniprot
proteins
pubmed
9989599
uniprot
proteins
sequence_length
265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:9989599}.
uniprot
proteins