Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

TK2 Gene

protein-coding   GIFtS: 62
GCID: GC16M066542

thymidine kinase 2, mitochondrial

 Explore 24 diseases affiliated with
TK2 via our new
 Human Malady Compendium 
Biological research products
for TK2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Thymidine Kinase 2, Mitochondrial1 2
MTDPS22 5
MTTK2
Mt-TK3
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:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00142

  • TK2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: TK2
    OriGene Custom Protein Services for TK2 
    GenScript Custom Purified and Recombinant Proteins Services for TK2
    Novus Biologicals TK2 Proteins
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for TK2
    Uscn 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



    TK2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TK2 
    GenScript Custom Superior Antibodies Services for TK2
    Novus Biologicals TK2 Antibodies
    Abcam antibodies for TK2 
    Uscn Antibodies for TK2
    ThermoFisher Antibodies for TK2

    Assay Products for TK2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TK2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TK2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TK2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002624 Deoxynucleoside_kinase

    Graphical View of Domain Structure for InterPro Entry O00142

    ProtoNet protein and cluster: O00142

    1 Blocks protein family: IPB002624 Deoxynucleoside kinase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: TK2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TK2
    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
    SwitchGear 3'UTR luciferase reporter plasmidTK2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TK2 (see all 7)
    OriGene shRNA RFP: TK2
    OriGene siRNA: TK2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TK2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TK2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TK2 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TK2 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): TK2 (NM_173174)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TK2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TK2
    Search LifeMap BioReagents cell lines for TK2

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TK2

    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


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

    Animal Models:
         Mouse knock-out Tk2tm1Anka for TK2
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G1/S-Specific Transcription
    G1/S-Specific Transcription1.00
    E2F mediated regulation of DNA replication0.45
    Activation of E2F target genes at G1/S1.00
    2Pyrimidine metabolism
    Pyrimidine metabolism1.00
    salvage pathways of pyrimidine deoxyribonucleotides0.15
    Pyrimidine salvage reactions0.38
    3G1/S Transition
    G1/S Transition1.00
    Mitotic G1-G1/S phases0.80
    4Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84
    5Metabolism
    Metabolism1.00
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for TK2 
        salvage pathways of pyrimidine deoxyribonucleotides

    5/11        Reactome Pathways for TK2 (see all 11)
        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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS9079672
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006260DNA replication ----
    GO:0006264mitochondrial DNA replication IEA--
    GO:0009262deoxyribonucleotide metabolic process IEA--


    TK2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: TK2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TK2
    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
    SwitchGear 3'UTR luciferase reporter plasmidTK2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TK2 (see all 7)
    OriGene shRNA RFP: TK2
    OriGene siRNA: TK2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TK2
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TK2 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TK2 (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): TK2 (NM_173174)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TK2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TK2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TK2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TK2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TK2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TK2

    Additional cDNA 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 NR_073521.1 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):

    BM994809 AW073496 CA442140 BQ718597 CA427803 BF448278 BQ000997 AI253095 
    AI337559 CA438732 AI459294 BP345193 AI954613 AW451763 AI333341 BQ021280 
    AI417654 BQ772312 AI431926 BM993629 D52159 AW268891 CR617510 BQ942713 

    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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

        SABiosciences Custom PCR Arrays for TK2
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TK2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TK2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TK2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TK2
    In Situ
    Assay Products:
     

     
    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 eukaryotes.

    Orthologs for TK2 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    --
    78(a)
    74(a)
    1 ↔ many
    1 ↔ many
    GL343295.1(44433-49727)
    GL344789.1(10759-15428)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G720406
    P-loop containing nucleoside triphosphate hydrolas...
    13(a)
    1 → many
    1(27111894-27114342)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    deoxynucleoside kinase family, putative, expressed...
    deoxynucleoside kinase family, putative, expressed...
    14(a)
    13(a)
    many ↔ many
    many ↔ many
    1(37913714-37917955)
    5(21050026-21054839)


    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, UniProtKB, 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

    10/613 NCBI SNPs in TK2 are shown (see all 613    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378544291,2
    C,probable-pathogenic52441219(-) ACAGGA/CATACT 8 N H mis10--------
    rs743722981,2
    C,F,--52419374(+) AAAAAG/ATCAGC 4 -- ut311Minor allele frequency- A:0.09WA 118
    rs104540651,2
    C,H--52419672(+) CTGCCG/ACAGAG 4 -- ut314Minor allele frequency- A:0.00NS EA 418
    rs590131841,2
    C,--52423797(+) GCAGAC/TGCAGC 4 -- int12Minor allele frequency- T:0.04WA 120
    rs1114077111,2
    C,--52424022(+) GCCAAC/TTCGAC 4 -- int12Minor allele frequency- T:0.11WA 120
    rs99249551,2
    C,F,H,--52424341(+) ccgagA/Gttgca 4 -- int14Minor allele frequency- G:0.07NS EA 416
    rs580412621,2
    --52424386(+) AGGAGA/TGTCTC 4 -- int10--------
    rs760056051,2
    F,--52425308(+) ATACTC/TGTGCT 4 -- int11Minor allele frequency- T:0.03EA 120
    rs785388771,2
    F,--52426456(+) CAGTGT/CGGCCT 4 -- int11Minor allele frequency- C:0.25WA 118
    rs23037761,2
    C,F,H,--52427100(+) AGCAGG/TCACAC 4 -- int19Minor allele frequency- T:0.02EA NS NA 2252

    HapMap Linkage Disequilibrium report for TK2 (66541906 - 66586447 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TK2: --
    Human Gene Mutation Database (HGMD): TK2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TK2 for disorders           About GeneDecksing

    OMIM gene information: 188250   
    OMIM disorders: 609560  
    UniProtKB/Swiss-Prot: KITM_HUMAN, O00142
  • Defects in TK2 are a cause of mitochondrial DNA depletion syndrome type 2 (MTDPS2) [MIM:609560]. A disorder
  • characterized primarily 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

    20/24 diseases for TK2 (see all 24):    About MalaCards
    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome 2 (myopathic type)    mitochondrial dna depletion myopathy    spinal muscular atrophy
    muscular atrophy    mitochondrial encephalomyopathy    encephalomyopathy    spinocerebellar ataxia
    myopathy    acute myeloid leukemia    respiratory failure    myeloid leukemia
    osteosarcoma    hepatitis b    ataxia    neurodegeneration
    lung carcinoma    cardiomyopathy    leukemia    hepatitis

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

    9 Novoseek 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. 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)
    9. 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)
    10. The role of mitochondrial dNTP levels in cells with reduced TK2 activity. (PubMed id 17065084)1, 9 Desler C....Rasmussen L.J. (2006)

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

      Query String
    PubMed
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for TK2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TK2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TK2  
     OriGene Protein Over-expression Lysate for TK2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for TK2   OriGene 3'-UTR Clone for TK2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TK2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TK2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TK2   OriGene Custom Protein Services for TK2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TK2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TK2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TK2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TK2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TK2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TK2
     GenScript Custom Purified and Recombinant Proteins Services for TK2 GenScript cDNA clones with any tag delivered in your preferred vector for TK2
     GenScript Custom Assay Services for TK2 GenScript Custom Superior Antibodies Services for TK2
     GenScript Custom overexpressing Cell Line Services for TK2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in TK2 promoter
     Search Chromatin IP Primers for TK2
     RT2 qPCR Primer Assay in human, mouse, rat TK2
     Search GNC Networks for TK2
     SABiosciences Custom PCR Arrays for TK2
     Search Tocris compounds for TK2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     TK2 antibodies
     TK2 proteins
     Antibodies for TK2
     See all of Abcam's Antibodies, Kits and Proteins for TK2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for TK2




     TK2 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for TK2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TK2
     SwitchGear 3'UTR luciferase reporter plasmids for TK2
     SwitchGear Promoter luciferase reporter plasmids for TK2
     ThermoFisher Antibodies for TK2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TK2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TK2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4