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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TK2 Gene

protein-coding   GIFtS: 62
GCID: GC16M066542

Thymidine Kinase 2, Mitochondrial

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Thymidine Kinase 2, Mitochondrial1 2
MTDPS22 5
MTTK2
mt-TK2
EC 2.7.1.213
Mt-TK3

External Ids:    HGNC: 118311   Entrez Gene: 70842   Ensembl: ENSG000001665487   OMIM: 1882505   UniProtKB: O001423   

Export aliases for TK2 gene to outside databases

Previous GC identifers: GC16M057239 GC16M066921 GC16M066280 GC16M066320 GC16M065102 GC16M066543 GC16M052417 GC16M066505 GC16M066506


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TK2 Gene:
This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and
deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis.
Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate
splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide,
so are not localized to mitochondria. (provided by RefSeq, Dec 2012)

GeneCards Summary for TK2 Gene: 
TK2 (thymidine kinase 2, mitochondrial) is a protein-coding gene. Diseases associated with TK2 include tk2-related mitochondrial dna depletion syndrome, myopathic form, and mitochondrial dna depletion syndrome 2, and among its related super-pathways are Pyrimidine metabolism and Metabolic pathways. GO annotations related to this gene include thymidine kinase activity and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is DCK.

UniProtKB/Swiss-Prot: KITM_HUMAN, O00142
Function: Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also
phosphorylates anti-viral and anti-cancer nucleoside analogs




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TK2 gene promoter:
         HOXA3   Hand1   MyoD   Nkx2-5   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TK2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22-q23.1   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q22-q23.1

TK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TK2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M066542:  view genomic region     (about GC identifiers)

Start:
66,541,906 bp from pter      End:
66,586,447 bp from pter
Size:
44,542 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KITM_HUMAN, O00142 (See protein sequence)
Recommended Name: Thymidine kinase 2, mitochondrial precursor  
Size: 265 amino acids; 31005 Da
Subunit: Monomer
Subcellular location: Mitochondrion
Secondary accessions: B4DGJ7 B7ZAB1 E9PH08 O15238
Alternative splicing: 4 isoforms:  O00142-1   O00142-2   O00142-3   O00142-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TK2: NX_O00142

Explore proteomics data for TK2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00142

  • TK2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TK2 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001166114.1  NP_001166115.1  NP_001166116.1  NP_001258863.1  NP_001258864.1  NP_001258979.1  NP_004605.4  

    ENSEMBL proteins: 
     ENSP00000462721   ENSP00000414334   ENSP00000433770   ENSP00000435312   ENSP00000457959  
     ENSP00000438143   ENSP00000455187   ENSP00000434594   ENSP00000464313   ENSP00000407469  
     ENSP00000463560   ENSP00000462341   ENSP00000463326   ENSP00000299697   ENSP00000440898  
    Reactome Protein details: O00142
    Human Recombinant Protein Products for TK2: 
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    ProSpec Recombinant Protein for TK2
    Cloud-Clone Corp. Proteins for TK2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    TK2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TK2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR002624 Deoxynucleoside_kinase

    Graphical View of Domain Structure for InterPro Entry O00142

    ProtoNet protein and cluster: O00142

    1 Blocks protein domain: IPB002624 Deoxynucleoside kinase

    UniProtKB/Swiss-Prot: KITM_HUMAN, O00142
    Similarity: Belongs to the DCK/DGK family


    TK2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KITM_HUMAN, O00142
    Function: Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also
    phosphorylates anti-viral and anti-cancer nucleoside analogs
    Catalytic activity: ATP + thymidine = ADP + thymidine 5'-phosphate

         Genatlas biochemistry entry for TK2:
    thymidine kinase 2,pyrimidine salvage pathway,mitochondrial,involved in the activation of chemotherapeutic
    nucleoside analogues

         Enzyme Number (IUBMB): EC 2.7.1.211

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004137deoxycytidine kinase activity IEA--
    GO:0004797thymidine kinase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0016773phosphotransferase activity, alcohol group as acceptor IEA--
         
    TK2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TK2:
     Decreased influenza A/WSN/33 r  Synthetic lethal with Ras  Wnt reporter downregulated 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tk2):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  muscle 
     nervous system 

    TK2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tk2tm1Anka for TK2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TK2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TK2 
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    miRNA
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    hsa-miR-130a* hsa-miR-23c hsa-miR-133b hsa-miR-4290 hsa-miR-23b hsa-miR-133a hsa-miR-670 hsa-miR-581
    SwitchGear 3'UTR luciferase reporter plasmidTK2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TK2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TK2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Pyrimidine metabolism0.50
    pyrimidine deoxyribonucleosides salvage0.36
    Pyrimidine salvage reactions0.38
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    4Mitotic G1-G1/S phases
    Mitotic G1-G1/S phases0.80
    G1/S Transition0.80
    5E2F mediated regulation of DNA replication
    E2F mediated regulation of DNA replication0.45
    G1/S-Specific Transcription0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for TK2
        superpathway of pyrimidine deoxyribonucleoside salvage
    pyrimidine deoxyribonucleosides salvage

    5/10        Reactome Pathways for TK2 (see all 10)
        Metabolism of nucleotides
    Mitotic G1-G1/S phases
    Metabolism
    Cell Cycle
    Pyrimidine salvage reactions


    3         Kegg Pathways  (Kegg details for TK2):
        Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways


    TK2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TK2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/17 Interacting proteins for TK2 (O001423 ENSP000002996974) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED4Q9NPJ63I2D: score=5 
    DTYMKENSP000003048024STRING: ENSP00000304802
    DUTENSP000003703764STRING: ENSP00000370376
    ITPAENSP000003694564STRING: ENSP00000369456
    TYMPENSP000002520294STRING: ENSP00000252029
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS9079672
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006264mitochondrial DNA replication IEA--
    GO:0009262deoxyribonucleotide metabolic process IEA--
    GO:0032042mitochondrial DNA metabolic process ----

    TK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TK2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TK2 (KITM)

    3 DrugBank Compounds for TK2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Deoxycytidine-- 951-77-9target--17139284 17016423 10592235
    Deoxythymidine2'-Deoxythymidine (see all 4)50-89-5target--17139284 17016423 10592235
    Thymidine-5'-Triphosphate-- --target--17139284 17016423 10592235

    10/27 Novoseek inferred chemical compound relationships for TK2 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deoxycytidine 90.8 43 15628745 (2), 1359886 (2), 9461577 (2), 9079672 (2) (see all 24)
    deoxynucleoside 89.4 4 12535661 (1), 15628745 (1), 17181158 (1)
    ara-t 88.9 7 16630572 (1), 1359886 (1), 17324575 (1), 17181158 (1)
    deoxyguanosine 85.7 21 11687801 (2), 12535661 (1), 15748706 (1), 12391347 (1) (see all 17)
    thymidine 85.1 135 10799656 (4), 19154348 (3), 17181158 (3), 11687801 (2) (see all 71)
    fiau 82.4 4 8726039 (3), 18459168 (1)
    deoxyribonucleotide 75.9 5 12391347 (1), 15921863 (1), 19815440 (1), 12873860 (1)
    deoxyuridine 74.7 6 11687801 (1), 2026611 (1), 10799656 (1), 11023833 (1) (see all 5)
    pyrimidine nucleoside 72.9 3 20391188 (1), 12213066 (1), 9461577 (1)
    dttp 72.2 17 19154348 (3), 1597187 (2), 18498354 (1)

    Search CenterWatch for drugs/clinical trials and news about TK2 / KITM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TK2 gene (7 alternative transcripts): 
    NM_001172643.1  NM_001172644.1  NM_001172645.1  NM_001271934.1  NM_001271935.1  NM_001272050.1  NM_004614.4  

    Unigene Cluster for TK2:

    Thymidine kinase 2, mitochondrial
    Hs.512619  [show with all ESTs]
    Unigene Representative Sequence: NR_073520
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000561905 ENST00000451102 ENST00000527800 ENST00000527284 ENST00000568170
    ENST00000567357 ENST00000545043 ENST00000562552 ENST00000564917 ENST00000525974
    ENST00000563099 ENST00000569718 ENST00000417693 ENST00000563369 ENST00000564792
    ENST00000563478 ENST00000562484 ENST00000565729
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate TK2 (see all 12):
    hsa-miR-130a* hsa-miR-23c hsa-miR-133b hsa-miR-4290 hsa-miR-23b hsa-miR-133a hsa-miR-670 hsa-miR-581
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    Additional mRNA sequence: 

    AB472397.1 AF521891.1 AK026021.1 AK026041.1 AK294627.1 AK295808.1 AK302976.1 AK303590.1 
    AK316226.1 BC040667.1 BC113928.1 BC134344.1 BC142970.1 NR_073520.1 U77088.1 U80628.1 
    Y10498.3 

    12 DOTS entries:

    DT.92423746  DT.311105  DT.120724962  DT.100754974  DT.95189094  DT.40281428  DT.120725007  DT.97843928 
    DT.99968707  DT.100754973  DT.120724996  DT.100700090 

    24/177 AceView cDNA sequences (see all 177):

    AI263434 D52159 AI417654 BQ021280 AA429631 CA442140 BM993629 BQ219941 
    BI759097 AI954613 AW451763 AW268891 CR617510 BQ775860 AI431926 AW073496 
    BM994809 BF448278 AI459294 AI337559 CA941430 AI333341 BE467539 BQ000997 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TK2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TK2 Expression
    About this image


    See TK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TK2

    SOURCE GeneReport for Unigene cluster: Hs.512619

    UniProtKB/Swiss-Prot: KITM_HUMAN, O00142
    Tissue specificity: Predominantly expressed in liver, pancreas, muscle, and brain

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TK2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TK2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tk21 , 5 thymidine kinase 2, mitochondrial1, 5 83.02(n)1
    82.26(a)1
      8 (53.04 cM)5
    578131  NM_021028.31  NP_066356.31 
     1042266915 
    chicken
    (Gallus gallus)
    Aves TK21 thymidine kinase 2, mitochondrial 73.42(n)
    74.85(a)
      427551  NM_001031460.1  NP_001026631.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    74(a)
    69(a)
    1 ↔ many
    1 ↔ many
    GL344789.1(10562-15428)
    GL343295.1(44099-65190)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982762 putative deoxyribonucleoside kinase 75.15(n)    AF250861.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.184012 Transcribed sequence with weak similarity to protein more 77.69(n)    CK028655.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dnk1 , 3 nucleoside diphosphate phosphorylation
    deoxynucleoside more3
    deoxyribonucleoside kinase1
    44(a)3
    49.53(n)1
    45.75(a)1
      91E23
    422731  NM_079675.21  NP_524399.11 


    ENSEMBL Gene Tree for TK2 (if available)
    TreeFam Gene Tree for TK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TK2 gene
    DCK2  DGUOK2  
    2 SIMAP similar genes for TK2 using alignment to 13 protein entries:     KITM_HUMAN (see all proteins):
    DGUOK    DCK

    TK2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/780 SNPs in TK2 are shown (see all 780)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0237924
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0237922 R K mis40--------
    VAR_0237914
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0237912 R W mis40--------
    VAR_0194214
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0194212 H N mis40--------
    VAR_0237904
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0237902 T M mis40--------
    VAR_0194224
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0194222 I N mis40--------
    VAR_0194194
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0194192 I M mis40--------
    VAR_0194204
    Mitochondrial DNA depletion syndrome 2 (MTDPS2)4--see VAR_0194202 T M mis40--------
    rs2818654981,2
    Cpathogenic167551668(-) GGGATC/TGAATA 14 R * stg1 ut310--------
    rs1378544301,2
    Cpathogenic167553457(-) AGCAAA/TTCACC 15 N I F mis10--------
    rs1378869001,2
    Cpathogenic167556869(+) GGTCCA/C/G/
            
    AAGGT
    21 R G W mis1 int11NA 4550

    HapMap Linkage Disequilibrium report for TK2 (66541906 - 66586447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TK2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676087CNV Deletion23128226
    nsv1839CNV Insertion18451855
    nsv906785CNV Loss21882294
    nsv906786CNV Loss21882294


    Human Gene Mutation Database (HGMD): TK2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TK2
    DNA2.0 Custom Variant and Variant Library Synthesis for TK2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 188250   
    OMIM disorders: 609560  
    UniProtKB/Swiss-Prot: KITM_HUMAN, O00142
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/21 diseases for TK2 (see all 21):    About MalaCards
    tk2-related mitochondrial dna depletion syndrome, myopathic form    mitochondrial dna depletion syndrome 2    mitochondrial dna depletion syndrome, myopathic form    mitochondrial dna depletion syndrome
    muscular atrophy    encephalomyopathy    respiratory failure    mitochondrial encephalomyopathy
    myopathy    ophthalmoplegia    spinal muscular atrophy    spinocerebellar ataxia
    osteosarcoma    acute myeloid leukemia    ataxia    hepatitis b
    myeloid leukemia    alcoholism    hepatitis    leukemia

    1 disease from the University of Copenhagen DISEASES database for TK2:
    Mitochondrial encephalomyopathy

    TK2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for TK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mitochondrial myopathies 78.7 6 16155436 (1), 17053512 (1), 15907288 (1), 18021809 (1) (see all 6)
    coenzyme q10 deficiency 77 2 16155436 (1), 17053512 (1)
    myopathy 74.3 13 12765840 (2), 11687801 (1), 20083405 (1), 14550298 (1) (see all 10)
    mitochondrial diseases 67.1 1 11023833 (1)
    muscular atrophy spinal 34.9 1 16908738 (1)
    herpes simplex 27.1 3 11392548 (1), 10606535 (1), 17181158 (1)
    encephalopathy 21 1 16504786 (1)
    osteosarcoma 20.9 1 16630572 (1)
    epilepsy 0 1 16504786 (1)

    Genetic Association Database (GAD): TK2
    Human Genome Epidemiology (HuGE) Navigator: TK2 (7 documents)

    Export disorders for TK2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TK2 gene, integrated from 9 sources (see all 111):
    (articles sorted by number of sources associating them with TK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. (PubMed id 12873860)1, 4, 9 Mancuso M....DiMauro S. (2003)
    2. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (PubMed id 15639197)1, 2, 9 Wang L....Eriksson S. (2005)
    3. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. (PubMed id 12391347)1, 2, 9 Mancuso M.... Vu T.H. (2002)
    4. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. (PubMed id 11687801)1, 2, 9 Saada A.... Elpeleg O. (2001)
    5. Human thymidine kinase 2: molecular cloning and characterisation of the enzyme activity with antiviral and cytostatic nucleoside substrates. (PubMed id 9989599)1, 2, 9 Wang L.... Eriksson S. (1999)
    6. Cloning of the cDNA and chromosome localization of the gene for human thymidine kinase 2. (PubMed id 9079672)1, 2, 9 Johansson M. and Karlsson A. (1997)
    7. Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. (PubMed id 15907288)1, 2, 9 Tulinius M.... Oldfors A. (2005)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    9. Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts. (PubMed id 19154348)1, 9 Frangini M....Bianchi V. (2009)
    10. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. (PubMed id 12493767)1, 9 Wang L....Eriksson S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7084 HGNC: 11831 AceView: TK2 Ensembl:ENSG00000166548 euGenes: HUgn7084
    ECgene: TK2 Kegg: 7084 H-InvDB: TK2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TK2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TK2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TK2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TK2 gene:
    Search GeneIP for patents involving TK2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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