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Protein

Thymidine kinase 2, mitochondrial

Gene

TK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

ATP + thymidine = ADP + thymidine 5'-phosphate.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei81 – 811SubstrateBy similarity
Binding sitei99 – 991SubstrateBy similarity
Binding sitei110 – 1101SubstrateBy similarity
Active sitei133 – 1331Proton acceptorSequence Analysis
Binding sitei134 – 1341SubstrateBy similarity
Binding sitei201 – 2011SubstrateBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi57 – 659ATPBy similarity

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • deoxycytidine kinase activity Source: Ensembl
  • thymidine kinase activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

DNA synthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS09420-MONOMER.
BRENDAi2.7.1.21. 2681.
ReactomeiREACT_471. E2F mediated regulation of DNA replication.
REACT_655. Pyrimidine salvage reactions.
REACT_683. G1/S-Specific Transcription.
SABIO-RKO00142.

Names & Taxonomyi

Protein namesi
Recommended name:
Thymidine kinase 2, mitochondrial (EC:2.7.1.21)
Alternative name(s):
Mt-TK
Gene namesi
Name:TK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:11831. TK2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 2 (MTDPS2)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:609560
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531I → M in MTDPS2. 1 Publication
VAR_019419
Natural varianti64 – 641T → M in MTDPS2. 1 Publication
VAR_023790
Natural varianti108 – 1081T → M in MTDPS2; reduction of activity. 2 Publications
VAR_019420
Natural varianti117 – 1171M → V in MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts. 1 Publication
VAR_072789
Natural varianti121 – 1211H → N in MTDPS2. 2 Publications
VAR_019421
Natural varianti139 – 1391A → V in MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts. 1 Publication
VAR_072790
Natural varianti183 – 1831R → W in MTDPS2. 1 Publication
VAR_023791
Natural varianti192 – 1921R → K in MTDPS2; reduction of activity. 1 Publication
VAR_023792
Natural varianti212 – 2121I → N in MTDPS2. 1 Publication
VAR_019422

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi609560. phenotype.
Orphaneti254886. Autosomal recessive progressive external ophthalmoplegia.
254875. Mitochondrial DNA depletion syndrome, myopathic form.
PharmGKBiPA36535.

Polymorphism and mutation databases

BioMutaiTK2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3333MitochondrionAdd
BLAST
Chaini34 – 265232Thymidine kinase 2, mitochondrialPRO_0000016842Add
BLAST

Proteomic databases

MaxQBiO00142.
PaxDbiO00142.
PRIDEiO00142.

PTM databases

PhosphoSiteiO00142.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO00142.
CleanExiHS_TK2.
ExpressionAtlasiO00142. baseline and differential.
GenevisibleiO00142. HS.

Organism-specific databases

HPAiHPA041162.

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi112939. 2 interactions.
STRINGi9606.ENSP00000414334.

Structurei

3D structure databases

ProteinModelPortaliO00142.
SMRiO00142. Positions 53-238.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DCK/DGK family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1428.
GeneTreeiENSGT00510000046588.
HOGENOMiHOG000006872.
HOVERGENiHBG006216.
InParanoidiO00142.
KOiK00857.
PhylomeDBiO00142.
TreeFamiTF324413.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR002624. DNK.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10513. PTHR10513. 1 hit.
PfamiPF01712. dNK. 1 hit.
[Graphical view]
PIRSFiPIRSF000705. DNK. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: O00142-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLWPLRGWA ARALRCFGPG SRGSPASGPG PRRVQRRAWP PDKEQEKEKK
60 70 80 90 100
SVICVEGNIA SGKTTCLEFF SNATDVEVLT EPVSKWRNVR GHNPLGLMYH
110 120 130 140 150
DASRWGLTLQ TYVQLTMLDR HTRPQVSSVR LMERSIHSAR YIFVENLYRS
160 170 180 190 200
GKMPEVDYVV LSEWFDWILR NMDVSVDLIV YLRTNPETCY QRLKKRCREE
210 220 230 240 250
EKVIPLEYLE AIHHLHEEWL IKGSLFPMAA PVLVIEADHH MERMLELFEQ
260
NRDRILTPEN RKHCP
Length:265
Mass (Da):31,005
Last modified:July 28, 2009 - v4
Checksum:i1E9CB62D0321A992
GO
Isoform Short (identifier: O00142-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MLLWPLRGWAARALRCFGPGSRGSPASGPGPRRVQRRAWPP → MGAFCQRPSS

Note: No experimental confirmation available.
Show »
Length:234
Mass (Da):27,562
Checksum:iBA62F86B35942E34
GO
Isoform 3 (identifier: O00142-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-77: Missing.

Note: No experimental confirmation available.
Show »
Length:240
Mass (Da):28,374
Checksum:i5BBDA88F49F0F331
GO
Isoform 4 (identifier: O00142-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-95: Missing.

Note: No experimental confirmation available.
Show »
Length:247
Mass (Da):28,920
Checksum:i9EB1F18D680A66BB
GO
Isoform 5 (identifier: O00142-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Note: No experimental confirmation available.
Show »
Length:168
Mass (Da):20,281
Checksum:i436EAB164C5784EE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti37 – 371R → Y AA sequence (PubMed:9989599).Curated
Sequence conflicti49 – 491K → E in BAG57808 (PubMed:14702039).Curated
Sequence conflicti61 – 611S → G in AAC51167 (PubMed:9079672).Curated
Sequence conflicti206 – 2061L → P in BAG57808 (PubMed:14702039).Curated
Sequence conflicti238 – 2381D → DH in CAA71523 (PubMed:9989599).Curated
Sequence conflicti241 – 2411Missing in AAC51167 (PubMed:9079672).Curated
Sequence conflicti251 – 2511N → S in BAG57808 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531I → M in MTDPS2. 1 Publication
VAR_019419
Natural varianti64 – 641T → M in MTDPS2. 1 Publication
VAR_023790
Natural varianti108 – 1081T → M in MTDPS2; reduction of activity. 2 Publications
VAR_019420
Natural varianti117 – 1171M → V in MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts. 1 Publication
VAR_072789
Natural varianti121 – 1211H → N in MTDPS2. 2 Publications
VAR_019421
Natural varianti139 – 1391A → V in MTDPS2; severe form of combined brain and muscular atrophy; depletion of mtDNA in skeletal muscle; normal residual mtDNA in blood and fibroblasts. 1 Publication
VAR_072790
Natural varianti183 – 1831R → W in MTDPS2. 1 Publication
VAR_023791
Natural varianti192 – 1921R → K in MTDPS2; reduction of activity. 1 Publication
VAR_023792
Natural varianti212 – 2121I → N in MTDPS2. 1 Publication
VAR_019422

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9797Missing in isoform 5. 1 PublicationVSP_054606Add
BLAST
Alternative sequencei1 – 4141MLLWP…RAWPP → MGAFCQRPSS in isoform Short. 1 PublicationVSP_003028Add
BLAST
Alternative sequencei53 – 7725Missing in isoform 3. 1 PublicationVSP_043503Add
BLAST
Alternative sequencei78 – 9518Missing in isoform 4. 1 PublicationVSP_044459Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U77088 mRNA. Translation: AAC51167.1.
Y10498 mRNA. Translation: CAA71523.3.
AK294627 mRNA. Translation: BAG57808.1.
AK302976 mRNA. Translation: BAG64119.1.
AK316226 mRNA. Translation: BAH14597.1.
AC010542 Genomic DNA. No translation available.
CH471092 Genomic DNA. Translation: EAW83013.1.
CH471092 Genomic DNA. Translation: EAW83015.1.
CCDSiCCDS10805.2. [O00142-1]
CCDS54016.1. [O00142-3]
CCDS54017.1. [O00142-4]
CCDS54018.1. [O00142-2]
CCDS61955.1. [O00142-5]
RefSeqiNP_001166114.1. NM_001172643.1. [O00142-2]
NP_001166115.1. NM_001172644.1. [O00142-3]
NP_001258864.1. NM_001271935.1.
NP_001258979.1. NM_001272050.1. [O00142-5]
NP_004605.4. NM_004614.4. [O00142-1]
UniGeneiHs.512619.

Genome annotation databases

EnsembliENST00000299697; ENSP00000299697; ENSG00000166548.
ENST00000525974; ENSP00000434594; ENSG00000166548. [O00142-5]
ENST00000527284; ENSP00000435312; ENSG00000166548. [O00142-2]
ENST00000527800; ENSP00000433770; ENSG00000166548. [O00142-5]
ENST00000544898; ENSP00000440898; ENSG00000166548.
ENST00000545043; ENSP00000438143; ENSG00000166548. [O00142-3]
ENST00000563369; ENSP00000463560; ENSG00000166548. [O00142-5]
ENST00000620035; ENSP00000483833; ENSG00000166548. [O00142-4]
GeneIDi7084.
KEGGihsa:7084.
UCSCiuc002eor.3. human. [O00142-2]
uc002eos.3. human. [O00142-1]
uc010viq.2. human. [O00142-4]
uc010vir.2. human. [O00142-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U77088 mRNA. Translation: AAC51167.1.
Y10498 mRNA. Translation: CAA71523.3.
AK294627 mRNA. Translation: BAG57808.1.
AK302976 mRNA. Translation: BAG64119.1.
AK316226 mRNA. Translation: BAH14597.1.
AC010542 Genomic DNA. No translation available.
CH471092 Genomic DNA. Translation: EAW83013.1.
CH471092 Genomic DNA. Translation: EAW83015.1.
CCDSiCCDS10805.2. [O00142-1]
CCDS54016.1. [O00142-3]
CCDS54017.1. [O00142-4]
CCDS54018.1. [O00142-2]
CCDS61955.1. [O00142-5]
RefSeqiNP_001166114.1. NM_001172643.1. [O00142-2]
NP_001166115.1. NM_001172644.1. [O00142-3]
NP_001258864.1. NM_001271935.1.
NP_001258979.1. NM_001272050.1. [O00142-5]
NP_004605.4. NM_004614.4. [O00142-1]
UniGeneiHs.512619.

3D structure databases

ProteinModelPortaliO00142.
SMRiO00142. Positions 53-238.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112939. 2 interactions.
STRINGi9606.ENSP00000414334.

Chemistry

BindingDBiO00142.
ChEMBLiCHEMBL4580.

PTM databases

PhosphoSiteiO00142.

Polymorphism and mutation databases

BioMutaiTK2.

Proteomic databases

MaxQBiO00142.
PaxDbiO00142.
PRIDEiO00142.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299697; ENSP00000299697; ENSG00000166548.
ENST00000525974; ENSP00000434594; ENSG00000166548. [O00142-5]
ENST00000527284; ENSP00000435312; ENSG00000166548. [O00142-2]
ENST00000527800; ENSP00000433770; ENSG00000166548. [O00142-5]
ENST00000544898; ENSP00000440898; ENSG00000166548.
ENST00000545043; ENSP00000438143; ENSG00000166548. [O00142-3]
ENST00000563369; ENSP00000463560; ENSG00000166548. [O00142-5]
ENST00000620035; ENSP00000483833; ENSG00000166548. [O00142-4]
GeneIDi7084.
KEGGihsa:7084.
UCSCiuc002eor.3. human. [O00142-2]
uc002eos.3. human. [O00142-1]
uc010viq.2. human. [O00142-4]
uc010vir.2. human. [O00142-3]

Organism-specific databases

CTDi7084.
GeneCardsiGC16M066542.
GeneReviewsiTK2.
H-InvDBHIX0021286.
HGNCiHGNC:11831. TK2.
HPAiHPA041162.
MIMi188250. gene.
609560. phenotype.
neXtProtiNX_O00142.
Orphaneti254886. Autosomal recessive progressive external ophthalmoplegia.
254875. Mitochondrial DNA depletion syndrome, myopathic form.
PharmGKBiPA36535.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1428.
GeneTreeiENSGT00510000046588.
HOGENOMiHOG000006872.
HOVERGENiHBG006216.
InParanoidiO00142.
KOiK00857.
PhylomeDBiO00142.
TreeFamiTF324413.

Enzyme and pathway databases

BioCyciMetaCyc:HS09420-MONOMER.
BRENDAi2.7.1.21. 2681.
ReactomeiREACT_471. E2F mediated regulation of DNA replication.
REACT_655. Pyrimidine salvage reactions.
REACT_683. G1/S-Specific Transcription.
SABIO-RKO00142.

Miscellaneous databases

GenomeRNAii7084.
NextBioi27709.
PROiO00142.
SOURCEiSearch...

Gene expression databases

BgeeiO00142.
CleanExiHS_TK2.
ExpressionAtlasiO00142. baseline and differential.
GenevisibleiO00142. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR002624. DNK.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10513. PTHR10513. 1 hit.
PfamiPF01712. dNK. 1 hit.
[Graphical view]
PIRSFiPIRSF000705. DNK. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2."
    Johansson M., Karlsson A.
    J. Biol. Chem. 272:8454-8458(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    Tissue: Liver.
  2. "Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates."
    Wang L., Munch-Petersen B., Herrstroem Sjoeberg A., Hellman U., Bergman T., Joernvall H., Eriksson S.
    FEBS Lett. 443:170-174(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), PROTEIN SEQUENCE OF 34-61 (ISOFORM LONG), CHARACTERIZATION.
    Tissue: Brain.
  3. Wang L.
    Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5).
    Tissue: Brain and Testis.
  5. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy."
    Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., Elpeleg O.
    Nat. Genet. 29:342-344(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MTDPS2 ASN-121 AND ASN-212.
  8. Cited for: VARIANTS MTDPS2 MET-53; MET-108 AND ASN-121.
  9. "Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes."
    Wang L., Limongelli A., Vila M.R., Carrara F., Zeviani M., Eriksson S.
    Mol. Genet. Metab. 84:75-82(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MTDPS2 MET-108 AND LYS-192, CHARACTERIZATION OF VARIANTS MTDPS2 MET-108 AND LYS-192.
  10. "Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion."
    Tulinius M., Moslemi A.-R., Darin N., Holme E., Oldfors A.
    Neuromuscul. Disord. 15:412-415(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MTDPS2 MET-64 AND TRP-183.
  11. "Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus."
    Knierim E., Seelow D., Gill E., von Moers A., Schuelke M.
    Mitochondrion 20:1-6(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MTDPS2 VAL-117 AND VAL-139.

Entry informationi

Entry nameiKITM_HUMAN
AccessioniPrimary (citable) accession number: O00142
Secondary accession number(s): B4DGJ7
, B4DZK7, B7ZAB1, E9PH08, O15238
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 28, 2009
Last modified: July 22, 2015
This is version 145 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.