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TK2 Gene

protein-coding   GIFtS: 61
GCID: GC16M066542

Thymidine Kinase 2, Mitochondrial

  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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, myopathic form. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for TK2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KITM_HUMAN, O00142 (See protein sequence)
Recommended Name: Thymidine kinase 2, mitochondrial precursor  
Size: 265 amino acids; 31005 Da
Subunit: Monomer
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


See TK2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

TK2 Human Recombinant Protein Products:

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TK2 Antibody Products:

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TK2 Assay Products:

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Cloud-Clone Corp. ELISAs for TK2
Cloud-Clone Corp. CLIAs for TK2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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/body 
 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: Let us create your new Knockout/Knockin mouse model for TK2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TK2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TK2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TK2

miRNA
Products:
    
miRTarBase miRNAs that target TK2:
hsa-mir-335-5p (MIRT017549)

Block miRNA regulation of human, mouse, rat TK2 using miScript Target Protectors
Selected qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for TK2
Predesigned siRNA for gene silencing in human, mouse, rat TK2

Gene Editing
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DNA2.0 Custom Protein Engineering Service for TK2

Clone
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OriGene ORF clones in mouse, rat for TK2
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
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GenScript Custom overexpressing Cell Line Services for TK2
Browse ESI BIO Cell Lines and PureStem Progenitors for TK2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TK2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
KITM_HUMAN, O00142: Mitochondrion
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
cytosol2
peroxisome2

Gene Ontology (GO): 3 cellular component terms:    About this table

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

TK2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for TK2 About   (see all 8)  
See pathways by source

SuperPathContained pathways About
1Metabolism
Metabolism0.38
Metabolic pathways0.38
2E2F mediated regulation of DNA replication
Mitotic G1-G1/S phases0.81
E2F mediated regulation of DNA replication0.30
G1/S Transition0.81
G1/S-Specific Transcription0.00
3Cell Cycle, Mitotic
Cell Cycle, Mitotic0.90
Cell Cycle0.90
4superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
superpathway of pyrimidine deoxyribonucleoside salvage0.46
pyrimidine deoxyribonucleosides salvage0.00
5Pyrimidine metabolism
Pyrimidine metabolism0.33
Pyrimidine salvage reactions0.00

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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

3 Reactome Pathways for TK2
    Pyrimidine salvage reactions
E2F mediated regulation of DNA replication
G1/S-Specific Transcription


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


TK2 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TK2
Interactions:

    Search GeneGlobe Interaction Network for TK2

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

Selected Interacting proteins for TK2 (O001423 ENSP000002996974) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
InteractantInteraction Details
GeneCardExternal ID(s)
MED4Q9NPJ63I2D: score=5 
DTYMKENSP000003048024STRING: ENSP00000304802
DUTENSP000003703764STRING: ENSP00000370376
ITPAENSP000003694564STRING: ENSP00000369456
TYMPENSP000002520294STRING: ENSP00000252029
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Gene Ontology (GO): Selected biological process terms (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:0006264mitochondrial DNA replication IEA--
GO:0009157deoxyribonucleoside monophosphate biosynthetic process TAS9079672
GO:0009262deoxyribonucleotide metabolic process IEA--

TK2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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

Selected 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)



TK2 for compounds           About GeneDecksing



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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
Selected 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
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Block miRNA regulation of human, mouse, rat TK2 using miScript Target Protectors
Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for TK2
Predesigned siRNA for gene silencing in human, mouse, rat TK2
Clone
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OriGene ORF clones in mouse, rat for TK2
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 qPCR primer pairs and template standards for TK2
OriGene qSTAR qPCR primer pairs in human, mouse for TK2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TK2
  QuantiTect SYBR Green Assays in human, mouse, rat TK2
  QuantiFast Probe-based Assays in human, mouse, rat TK2

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 

Selected AceView cDNA sequences (see all 177):

CA427803 AL040344 CA438732 AW268891 BM993629 BQ775860 AI333341 AA429631 
AI354568 AI167959 BQ942713 BE467539 BE672993 CR617510 BP342862 BX099096 
BU688768 AW103495 BM994809 BQ000997 D52159 CD244120 CA941430 AW073496 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

TK2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TK2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.512619

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

    Custom PCR Arrays for TK2
Primer
Products:
OriGene qPCR primer pairs and template standards for TK2
OriGene qSTAR qPCR primer pairs in human, mouse for TK2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TK2
QuantiTect SYBR Green Assays in human, mouse, rat TK2
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)
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This gene was present in the common ancestor of animals.

Orthologs for TK2 gene from Selected 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 73.09(n)
73.49(a)
  427551  NM_001031460.1  NP_001026631.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
72(a)
70(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
51.14(n)1
46.57(a)1
  91E23
422731  NM_001275793.11  NP_001262722.11 


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TK2 (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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TK2
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(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.)
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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

  • Selected diseases for TK2 (see all 24):    
    About MalaCards
    tk2-related mitochondrial dna depletion syndrome, myopathic form    mitochondrial dna depletion syndrome, myopathic form    autosomal recessive progressive external ophthalmoplegia    mitochondrial dna depletion syndrome
    muscular atrophy    encephalomyopathy    mitochondrial encephalomyopathy    ophthalmoplegia
    respiratory failure    spinal muscular atrophy    myopathy    spinocerebellar ataxia
    osteosarcoma    acute myeloid leukemia    ataxia    herpes simplex
    hepatitis b    myeloid leukemia    hepatitis    leukemia

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

    TK2 for disorders           About GeneDecksing

    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)
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    PubMed articles for TK2 gene, integrated from 10 sources (see all 113):
    (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. (Arch. Neurol. 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. (Mol. Genet. Metab. 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. (Neurology 2002)
    4. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. (PubMed id 11687801)1, 2, 9 Saada A.... Elpeleg O. (Nat. Genet. 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. (FEBS Lett. 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. (J. Biol. Chem. 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. (Neuromuscul. Disord. 2005)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (FEBS J. 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. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7084 HGNC: 11831 AceView: TK2 Ensembl:ENSG00000166548 euGenes: HUgn7084
    ECgene: TK2 Kegg: 7084 H-InvDB: TK2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=TK2[genesymbol]

    (Patent information from GeneIP,
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    Patent Information for TK2 gene:
    Search GeneIP for patents involving TK2

    GeneCards and IP:
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