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UniProtKB - O00142 (KITM_HUMAN)

Protein

Thymidine kinase 2, mitochondrial

Gene

TK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei81SubstrateBy similarity1
Binding sitei99SubstrateBy similarity1
Binding sitei110SubstrateBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei133Proton acceptorSequence analysis1
Binding sitei134SubstrateBy similarity1
Binding sitei201SubstrateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi57 – 65ATPBy similarity9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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 ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS09420-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.1.21 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-73614 Pyrimidine salvage

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		O00142

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Thymidine kinase 2, mitochondrial (EC:2.7.1.21)
Alternative name(s):
Mt-TK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TK2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000166548.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:11831 TK2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		188250 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00142

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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_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_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

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

More...DisGeNETi		7084

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TK2

MalaCards human disease database

More...MalaCardsi		TK2
MIMi609560 phenotype
617069 phenotype

Open Targets

More...OpenTargetsi		ENSG00000166548

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		254886 Autosomal recessive progressive external ophthalmoplegia
254875 Mitochondrial DNA depletion syndrome, myopathic form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36535

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4580

Drug and drug target database

More...DrugBanki		DB02594 2'-Deoxycytidine
DB04485 Deoxythymidine
DB02452 Thymidine-5'-Triphosphate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TK2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionAdd BLAST33
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001684234 – 265Thymidine kinase 2, mitochondrialAdd BLAST232

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00142

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00142

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O00142

PeptideAtlas

More...PeptideAtlasi		O00142

PRoteomics IDEntifications database

More...PRIDEi		O00142

ProteomicsDB human proteome resource

More...ProteomicsDBi		47731
47732 [O00142-2]
47733 [O00142-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00142

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O00142

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000166548 Expressed in 213 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...CleanExi		HS_TK2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00142 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00142 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA041162

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112939, 8 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000414334

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O00142

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O00142

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O00142

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DCK/DGK family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4235 Eukaryota
COG1428 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158005

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000006872

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG006216

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00142

KEGG Orthology (KO)

More...KOi		K00857

Identification of Orthologs from Complete Genome Data

More...OMAi		RDACRWG

Database of Orthologous Groups

More...OrthoDBi		567120at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00142

TreeFam database of animal gene trees

More...TreeFami		TF324413

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002624 DCK/DGK
IPR031314 DNK_dom
IPR027417 P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01712 dNK, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000705 DNK, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSY7A0A0A0MSY7_HUMAN
Thymidine kinase 2, mitochondrial
TK2
289Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRP0J3QRP0_HUMAN
Thymidine kinase 2, mitochondrial
TK2
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QL12J3QL12_HUMAN
Thymidine kinase 2, mitochondrial
TK2
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KS73J3KS73_HUMAN
Thymidine kinase 2, mitochondrial
TK2
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BV57H3BV57_HUMAN
Thymidine kinase 2, mitochondrial
TK2
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSZ2J3KSZ2_HUMAN
Thymidine kinase 2, mitochondrial
TK2
22Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10805.2 [O00142-1]
CCDS54016.1 [O00142-3]
CCDS54017.1 [O00142-4]
CCDS54018.1 [O00142-2]
CCDS61955.1 [O00142-5]

NCBI Reference Sequences

More...RefSeqi		NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.512619

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000299697; 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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7084

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7084

UCSC genome browser

More...UCSCi		uc002eor.4 human [O00142-1]
uc059vic.1 human

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

jPOSTiO00142
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

Comparative Toxicogenomics Database

More...CTDi		7084
DisGeNETi7084
EuPathDBiHostDB:ENSG00000166548.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		TK2
GeneReviewsiTK2

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0021286
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4235 Eukaryota
COG1428 LUCA
GeneTreeiENSGT00940000158005
HOGENOMiHOG000006872
HOVERGENiHBG006216
InParanoidiO00142
KOiK00857
OMAiRDACRWG
OrthoDBi567120at2759
PhylomeDBiO00142
TreeFamiTF324413

Enzyme and pathway databases

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

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7084

Protein Ontology

More...PROi		PR:O00142

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKITM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00142
Secondary accession number(s): B4DGJ7
, B4DZK7, B7ZAB1, E5KNQ5, E9PH08, O15238
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 28, 2009
Last modified: January 16, 2019
This is version 170 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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