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UniProtKB - O00142 (KITM_HUMAN)

Protein

Thymidine kinase 2, mitochondrial

Gene

TK2

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

Functioni

Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix. In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK. Widely used as target of antiviral and chemotherapeutic agents.1 Publication

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei81SubstrateBy similarity1
Binding sitei99SubstrateBy similarity1
Binding sitei110SubstrateBy similarity1
Active sitei133Proton acceptorSequence analysis1
Binding sitei134SubstrateBy similarity1
Binding sitei201SubstrateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi57 – 65ATPBy similarity9

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • deoxycytidine kinase activity Source: Ensembl
  • deoxynucleoside kinase activity Source: GO_Central
  • nucleoside kinase activity Source: Reactome
  • thymidine kinase activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Transferase
Biological processDNA synthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS09420-MONOMER
BRENDAi2.7.1.21 2681
ReactomeiR-HSA-73614 Pyrimidine salvage
SABIO-RKiO00142

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000166548.15
HGNCiHGNC:11831 TK2
MIMi188250 gene
neXtProtiNX_O00142

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01941953I → M in MTDPS2. 1 PublicationCorresponds to variant dbSNP:rs137854432EnsemblClinVar.1
Natural variantiVAR_02379064T → M in MTDPS2. 1 PublicationCorresponds to variant dbSNP:rs281865487EnsemblClinVar.1
Natural variantiVAR_019420108T → M in MTDPS2; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs137854431EnsemblClinVar.1
Natural variantiVAR_072789117M → 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 Publication1
Natural variantiVAR_019421121H → N in MTDPS2; reduction of activity in muscles. 2 PublicationsCorresponds to variant dbSNP:rs137854429EnsemblClinVar.1
Natural variantiVAR_072790139A → 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 PublicationCorresponds to variant dbSNP:rs281865494EnsemblClinVar.1
Natural variantiVAR_023792192R → K in MTDPS2; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs281865496EnsemblClinVar.1
Natural variantiVAR_019422212I → N in MTDPS2; reduction of activity in muscles. 1 PublicationCorresponds to variant dbSNP:rs137854430EnsemblClinVar.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 (PEOB3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617069
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076984188T → A in PEOB3; reduction of activity; reduced affinity for ATP. 1 PublicationCorresponds to variant dbSNP:rs281865495EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi7084
GeneReviewsiTK2
MalaCardsiTK2
MIMi609560 phenotype
617069 phenotype
OpenTargetsiENSG00000166548
Orphaneti254886 Autosomal recessive progressive external ophthalmoplegia
254875 Mitochondrial DNA depletion syndrome, myopathic form
PharmGKBiPA36535

Chemistry databases

ChEMBLiCHEMBL4580
DrugBankiDB02594 2'-Deoxycytidine
DB04485 Deoxythymidine
DB02452 Thymidine-5'-Triphosphate

Polymorphism and mutation databases

BioMutaiTK2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 33MitochondrionAdd BLAST33
ChainiPRO_000001684234 – 265Thymidine kinase 2, mitochondrialAdd BLAST232

Proteomic databases

MaxQBiO00142
PaxDbiO00142
PeptideAtlasiO00142
PRIDEiO00142
ProteomicsDBi47731
47732 [O00142-2]
47733 [O00142-3]

PTM databases

iPTMnetiO00142
PhosphoSitePlusiO00142

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000166548 Expressed in 213 organ(s), highest expression level in testis
CleanExiHS_TK2
ExpressionAtlasiO00142 baseline and differential
GenevisibleiO00142 HS

Organism-specific databases

HPAiHPA041162

Interactioni

Subunit structurei

Monomer.2 Publications

Protein-protein interaction databases

BioGridi112939, 8 interactors
STRINGi9606.ENSP00000414334

Chemistry databases

BindingDBiO00142

Structurei

3D structure databases

ProteinModelPortaliO00142
SMRiO00142
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DCK/DGK family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4235 Eukaryota
COG1428 LUCA
GeneTreeiENSGT00510000046588
HOGENOMiHOG000006872
HOVERGENiHBG006216
InParanoidiO00142
KOiK00857
OMAiRDACRWG
OrthoDBiEOG091G0PXX
PhylomeDBiO00142
TreeFamiTF324413

Family and domain databases

InterProiView protein in InterPro
IPR002624 DCK/DGK
IPR031314 DNK_dom
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01712 dNK, 1 hit
PIRSFiPIRSF000705 DNK, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

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

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (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 2 (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
Isoform 6 (identifier: O00142-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRPGLFKGQAPGSRRRPTAGLAVVRADSHKKEPRASGSARPAM

Show »
Length:307
Mass (Da):35,413
Checksum:iB8426B770D1DC636
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP77H3BP77_HUMAN
Thymidine kinase 2, mitochondrial
TK2
282Annotation score:
A0A0A0MSY7A0A0A0MSY7_HUMAN
Thymidine kinase 2, mitochondrial
TK2
289Annotation score:
J3QRP0J3QRP0_HUMAN
Thymidine kinase 2, mitochondrial
TK2
142Annotation score:
J3QL12J3QL12_HUMAN
Thymidine kinase 2, mitochondrial
TK2
88Annotation score:
J3KS73J3KS73_HUMAN
Thymidine kinase 2, mitochondrial
TK2
130Annotation score:
H3BV57H3BV57_HUMAN
Thymidine kinase 2, mitochondrial
TK2
120Annotation score:
J3KSZ2J3KSZ2_HUMAN
Thymidine kinase 2, mitochondrial
TK2
22Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti37R → Y AA sequence (PubMed:9989599).Curated1
Sequence conflicti49K → E in BAG57808 (PubMed:14702039).Curated1
Sequence conflicti61S → G in AAC51167 (PubMed:9079672).Curated1
Sequence conflicti206L → P in BAG57808 (PubMed:14702039).Curated1
Sequence conflicti238D → DH in CAA71523 (PubMed:9989599).Curated1
Sequence conflicti241Missing in AAC51167 (PubMed:9079672).Curated1
Sequence conflicti251N → S in BAG57808 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01941953I → M in MTDPS2. 1 PublicationCorresponds to variant dbSNP:rs137854432EnsemblClinVar.1
Natural variantiVAR_02379064T → M in MTDPS2. 1 PublicationCorresponds to variant dbSNP:rs281865487EnsemblClinVar.1
Natural variantiVAR_019420108T → M in MTDPS2; reduction of activity. 2 PublicationsCorresponds to variant dbSNP:rs137854431EnsemblClinVar.1
Natural variantiVAR_072789117M → 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 Publication1
Natural variantiVAR_019421121H → N in MTDPS2; reduction of activity in muscles. 2 PublicationsCorresponds to variant dbSNP:rs137854429EnsemblClinVar.1
Natural variantiVAR_072790139A → 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 PublicationCorresponds to variant dbSNP:rs281865494EnsemblClinVar.1
Natural variantiVAR_023791183R → W in MTDPS2 and PEOB3; reduction of activity; reduced affinity for ATP. 2 PublicationsCorresponds to variant dbSNP:rs137886900EnsemblClinVar.1
Natural variantiVAR_076984188T → A in PEOB3; reduction of activity; reduced affinity for ATP. 1 PublicationCorresponds to variant dbSNP:rs281865495EnsemblClinVar.1
Natural variantiVAR_023792192R → K in MTDPS2; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs281865496EnsemblClinVar.1
Natural variantiVAR_019422212I → N in MTDPS2; reduction of activity in muscles. 1 PublicationCorresponds to variant dbSNP:rs137854430EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0546061 – 97Missing in isoform 5. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_0030281 – 41MLLWP…RAWPP → MGAFCQRPSS in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0586941M → MRPGLFKGQAPGSRRRPTAG LAVVRADSHKKEPRASGSAR PAM in isoform 6. 1 Publication1
Alternative sequenceiVSP_04350353 – 77Missing in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_04445978 – 95Missing in isoform 4. 1 PublicationAdd BLAST18

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
CH471092 Genomic DNA Translation: EAW83017.1
HQ205385 Genomic DNA Translation: ADP90853.1
HQ205382 Genomic DNA Translation: ADP90850.1
HQ205383 Genomic DNA Translation: ADP90851.1
HQ205384 Genomic DNA Translation: ADP90852.1
HQ205381 Genomic DNA Translation: ADP90849.1
HQ205380 Genomic DNA Translation: ADP90848.1
HQ205379 Genomic DNA Translation: ADP90847.1
HQ205378 Genomic DNA Translation: ADP90846.1
HQ205377 Genomic DNA Translation: ADP90845.1
HQ205376 Genomic DNA Translation: ADP90844.1
HQ205375 Genomic DNA Translation: ADP90843.1
HQ205374 Genomic DNA Translation: ADP90842.1
HQ205373 Genomic DNA Translation: ADP90841.1
HQ205372 Genomic DNA Translation: ADP90840.1
HQ205371 Genomic DNA Translation: ADP90839.1
HQ205370 Genomic DNA Translation: ADP90838.1
HQ205362 Genomic DNA Translation: ADP90830.1
HQ205363 Genomic DNA Translation: ADP90831.1
HQ205364 Genomic DNA Translation: ADP90832.1
HQ205365 Genomic DNA Translation: ADP90833.1
HQ205366 Genomic DNA Translation: ADP90834.1
HQ205367 Genomic DNA Translation: ADP90835.1
HQ205368 Genomic DNA Translation: ADP90836.1
HQ205369 Genomic DNA Translation: ADP90837.1
HQ205346 Genomic DNA Translation: ADP90814.1
HQ205347 Genomic DNA Translation: ADP90815.1
HQ205348 Genomic DNA Translation: ADP90816.1
HQ205349 Genomic DNA Translation: ADP90817.1
HQ205350 Genomic DNA Translation: ADP90818.1
HQ205351 Genomic DNA Translation: ADP90819.1
HQ205352 Genomic DNA Translation: ADP90820.1
HQ205353 Genomic DNA Translation: ADP90821.1
HQ205354 Genomic DNA Translation: ADP90822.1
HQ205355 Genomic DNA Translation: ADP90823.1
HQ205356 Genomic DNA Translation: ADP90824.1
HQ205357 Genomic DNA Translation: ADP90825.1
HQ205358 Genomic DNA Translation: ADP90826.1
HQ205359 Genomic DNA Translation: ADP90827.1
HQ205360 Genomic DNA Translation: ADP90828.1
HQ205361 Genomic DNA Translation: ADP90829.1
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 [O00142-1]
ENST00000451102; ENSP00000414334; ENSG00000166548 [O00142-6]
ENST00000525974; ENSP00000434594; ENSG00000166548 [O00142-5]
ENST00000527284; ENSP00000435312; ENSG00000166548 [O00142-2]
ENST00000527800; ENSP00000433770; ENSG00000166548 [O00142-5]
ENST00000544898; ENSP00000440898; ENSG00000166548 [O00142-1]
ENST00000545043; ENSP00000438143; ENSG00000166548 [O00142-3]
ENST00000563369; ENSP00000463560; ENSG00000166548 [O00142-5]
ENST00000620035; ENSP00000483833; ENSG00000166548 [O00142-4]
GeneIDi7084
KEGGihsa:7084
UCSCiuc002eor.4 human [O00142-1]
uc059vic.1 human

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
CH471092 Genomic DNA Translation: EAW83017.1
HQ205385 Genomic DNA Translation: ADP90853.1
HQ205382 Genomic DNA Translation: ADP90850.1
HQ205383 Genomic DNA Translation: ADP90851.1
HQ205384 Genomic DNA Translation: ADP90852.1
HQ205381 Genomic DNA Translation: ADP90849.1
HQ205380 Genomic DNA Translation: ADP90848.1
HQ205379 Genomic DNA Translation: ADP90847.1
HQ205378 Genomic DNA Translation: ADP90846.1
HQ205377 Genomic DNA Translation: ADP90845.1
HQ205376 Genomic DNA Translation: ADP90844.1
HQ205375 Genomic DNA Translation: ADP90843.1
HQ205374 Genomic DNA Translation: ADP90842.1
HQ205373 Genomic DNA Translation: ADP90841.1
HQ205372 Genomic DNA Translation: ADP90840.1
HQ205371 Genomic DNA Translation: ADP90839.1
HQ205370 Genomic DNA Translation: ADP90838.1
HQ205362 Genomic DNA Translation: ADP90830.1
HQ205363 Genomic DNA Translation: ADP90831.1
HQ205364 Genomic DNA Translation: ADP90832.1
HQ205365 Genomic DNA Translation: ADP90833.1
HQ205366 Genomic DNA Translation: ADP90834.1
HQ205367 Genomic DNA Translation: ADP90835.1
HQ205368 Genomic DNA Translation: ADP90836.1
HQ205369 Genomic DNA Translation: ADP90837.1
HQ205346 Genomic DNA Translation: ADP90814.1
HQ205347 Genomic DNA Translation: ADP90815.1
HQ205348 Genomic DNA Translation: ADP90816.1
HQ205349 Genomic DNA Translation: ADP90817.1
HQ205350 Genomic DNA Translation: ADP90818.1
HQ205351 Genomic DNA Translation: ADP90819.1
HQ205352 Genomic DNA Translation: ADP90820.1
HQ205353 Genomic DNA Translation: ADP90821.1
HQ205354 Genomic DNA Translation: ADP90822.1
HQ205355 Genomic DNA Translation: ADP90823.1
HQ205356 Genomic DNA Translation: ADP90824.1
HQ205357 Genomic DNA Translation: ADP90825.1
HQ205358 Genomic DNA Translation: ADP90826.1
HQ205359 Genomic DNA Translation: ADP90827.1
HQ205360 Genomic DNA Translation: ADP90828.1
HQ205361 Genomic DNA Translation: ADP90829.1
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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112939, 8 interactors
STRINGi9606.ENSP00000414334

Chemistry databases

BindingDBiO00142
ChEMBLiCHEMBL4580
DrugBankiDB02594 2'-Deoxycytidine
DB04485 Deoxythymidine
DB02452 Thymidine-5'-Triphosphate

PTM databases

iPTMnetiO00142
PhosphoSitePlusiO00142

Polymorphism and mutation databases

BioMutaiTK2

Proteomic databases

MaxQBiO00142
PaxDbiO00142
PeptideAtlasiO00142
PRIDEiO00142
ProteomicsDBi47731
47732 [O00142-2]
47733 [O00142-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299697; ENSP00000299697; ENSG00000166548 [O00142-1]
ENST00000451102; ENSP00000414334; ENSG00000166548 [O00142-6]
ENST00000525974; ENSP00000434594; ENSG00000166548 [O00142-5]
ENST00000527284; ENSP00000435312; ENSG00000166548 [O00142-2]
ENST00000527800; ENSP00000433770; ENSG00000166548 [O00142-5]
ENST00000544898; ENSP00000440898; ENSG00000166548 [O00142-1]
ENST00000545043; ENSP00000438143; ENSG00000166548 [O00142-3]
ENST00000563369; ENSP00000463560; ENSG00000166548 [O00142-5]
ENST00000620035; ENSP00000483833; ENSG00000166548 [O00142-4]
GeneIDi7084
KEGGihsa:7084
UCSCiuc002eor.4 human [O00142-1]
uc059vic.1 human

Organism-specific databases

CTDi7084
DisGeNETi7084
EuPathDBiHostDB:ENSG00000166548.15
GeneCardsiTK2
GeneReviewsiTK2
H-InvDBiHIX0021286
HGNCiHGNC:11831 TK2
HPAiHPA041162
MalaCardsiTK2
MIMi188250 gene
609560 phenotype
617069 phenotype
neXtProtiNX_O00142
OpenTargetsiENSG00000166548
Orphaneti254886 Autosomal recessive progressive external ophthalmoplegia
254875 Mitochondrial DNA depletion syndrome, myopathic form
PharmGKBiPA36535
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4235 Eukaryota
COG1428 LUCA
GeneTreeiENSGT00510000046588
HOGENOMiHOG000006872
HOVERGENiHBG006216
InParanoidiO00142
KOiK00857
OMAiRDACRWG
OrthoDBiEOG091G0PXX
PhylomeDBiO00142
TreeFamiTF324413

Enzyme and pathway databases

BioCyciMetaCyc:HS09420-MONOMER
BRENDAi2.7.1.21 2681
ReactomeiR-HSA-73614 Pyrimidine salvage
SABIO-RKiO00142

Miscellaneous databases

GenomeRNAii7084
PROiPR:O00142
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166548 Expressed in 213 organ(s), highest expression level in testis
CleanExiHS_TK2
ExpressionAtlasiO00142 baseline and differential
GenevisibleiO00142 HS

Family and domain databases

InterProiView protein in InterPro
IPR002624 DCK/DGK
IPR031314 DNK_dom
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF01712 dNK, 1 hit
PIRSFiPIRSF000705 DNK, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKITM_HUMAN
AccessioniPrimary (citable) accession number: O00142
Secondary accession number(s): B4DGJ7
, B4DZK7, B7ZAB1, E5KNQ5, E9PH08, O15238
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 28, 2009
Last modified: November 7, 2018
This is version 168 of the entry and version 4 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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