Human Gene TK2 (ENST00000544898.6_10) from GENCODE V47lift37
  Description: thymidine kinase 2, transcript variant 7 (from RefSeq NR_073520.2)
Gencode Transcript: ENST00000544898.6_10
Gencode Gene: ENSG00000166548.17_20
Transcript (Including UTRs)
   Position: hg19 chr16:66,541,906-66,584,025 Size: 42,120 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr16:66,545,871-66,583,964 Size: 38,094 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:66,541,906-66,584,025)mRNA (may differ from genome)Protein (265 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KITM_HUMAN
DESCRIPTION: RecName: Full=Thymidine kinase 2, mitochondrial; EC=2.7.1.21; AltName: Full=Mt-TK; Flags: Precursor;
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.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Predominantly expressed in liver, pancreas, muscle, and brain.
DISEASE: 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.
SIMILARITY: Belongs to the DCK/DGK family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TK2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TK2
Diseases sorted by gene-association score: mitochondrial dna depletion syndrome 2* (1581), progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3* (1281), tk2-related mitochondrial dna depletion syndrome, myopathic form* (500), progressive external ophthalmoplegia, autosomal recessive 1* (247), mitochondrial dna depletion syndrome, myopathic form* (100), coenzyme q10 deficiency disease (14), spinocerebellar ataxia 31 (13), respiratory failure (8), mitochondrial disorders (6), myopathy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.01 RPKM in Testis
Total median expression: 245.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.7061-0.241 Picture PostScript Text
3' UTR -1406.203965-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002624 - Deoxynucleoside_kinase

Pfam Domains:
PF01712 - Deoxynucleoside kinase
PF13671 - AAA domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O00142
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004137 deoxycytidine kinase activity
GO:0004797 thymidine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019206 nucleoside kinase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process
GO:0009165 nucleotide biosynthetic process
GO:0016310 phosphorylation
GO:0043097 pyrimidine nucleoside salvage
GO:0046092 deoxycytidine metabolic process
GO:0046104 thymidine metabolic process
GO:0071897 DNA biosynthetic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AB472397 - Homo sapiens mRNA, expressed in cerebellum, similar to TK2 sequence, clone: TK2-ext.
BC040667 - Homo sapiens thymidine kinase 2, mitochondrial, mRNA (cDNA clone IMAGE:4812465).
AK026041 - Homo sapiens cDNA: FLJ22388 fis, clone HRC07680.
JD170537 - Sequence 151561 from Patent EP1572962.
JD423205 - Sequence 404229 from Patent EP1572962.
JD474380 - Sequence 455404 from Patent EP1572962.
JD547405 - Sequence 528429 from Patent EP1572962.
JD065118 - Sequence 46142 from Patent EP1572962.
JD072998 - Sequence 54022 from Patent EP1572962.
JD081091 - Sequence 62115 from Patent EP1572962.
DQ598544 - Homo sapiens piRNA piR-36610, complete sequence.
JD272107 - Sequence 253131 from Patent EP1572962.
LF208255 - JP 2014500723-A/15758: Polycomb-Associated Non-Coding RNAs.
JD171746 - Sequence 152770 from Patent EP1572962.
JD467449 - Sequence 448473 from Patent EP1572962.
JD565397 - Sequence 546421 from Patent EP1572962.
JD277999 - Sequence 259023 from Patent EP1572962.
JD114264 - Sequence 95288 from Patent EP1572962.
JD162241 - Sequence 143265 from Patent EP1572962.
JD075884 - Sequence 56908 from Patent EP1572962.
DQ588189 - Homo sapiens piRNA piR-55301, complete sequence.
U80628 - Human thymidine kinase 2 isoform B (TK2) mRNA, alternatively spliced, partial cds.
U77088 - Human thymidine kinase 2 (TK2) mRNA, complete cds.
AK026021 - Homo sapiens cDNA: FLJ22368 fis, clone HRC06660, highly similar to HSU80628 Human thymidine kinase 2 isoform B (TK2) mRNA.
Y10498 - Homo sapiens mRNA for thymidine kinase 2 (mt-TK gene).
BC142970 - Homo sapiens thymidine kinase 2, mitochondrial, mRNA (cDNA clone MGC:167058 IMAGE:8860391), complete cds.
AF521891 - Homo sapiens thymidine kinase mRNA, complete cds.
JD324383 - Sequence 305407 from Patent EP1572962.
DQ594122 - Homo sapiens piRNA piR-60234, complete sequence.
JD241369 - Sequence 222393 from Patent EP1572962.
JD102247 - Sequence 83271 from Patent EP1572962.
JD227410 - Sequence 208434 from Patent EP1572962.
JD362068 - Sequence 343092 from Patent EP1572962.
JD393273 - Sequence 374297 from Patent EP1572962.
JD474676 - Sequence 455700 from Patent EP1572962.
JD433425 - Sequence 414449 from Patent EP1572962.
JD400296 - Sequence 381320 from Patent EP1572962.
JD333610 - Sequence 314634 from Patent EP1572962.
JD511190 - Sequence 492214 from Patent EP1572962.
JD454259 - Sequence 435283 from Patent EP1572962.
JD177273 - Sequence 158297 from Patent EP1572962.
JD046980 - Sequence 28004 from Patent EP1572962.
JD444554 - Sequence 425578 from Patent EP1572962.
JD250247 - Sequence 231271 from Patent EP1572962.
JD116104 - Sequence 97128 from Patent EP1572962.
JD065371 - Sequence 46395 from Patent EP1572962.
JD442399 - Sequence 423423 from Patent EP1572962.
JD403119 - Sequence 384143 from Patent EP1572962.
JD394218 - Sequence 375242 from Patent EP1572962.
JD369009 - Sequence 350033 from Patent EP1572962.
JD046114 - Sequence 27138 from Patent EP1572962.
AK295808 - Homo sapiens cDNA FLJ56348 complete cds, highly similar to Thymidine kinase 2, mitochondrial precursor (EC 2.7.1.21).
JD106165 - Sequence 87189 from Patent EP1572962.
JD471061 - Sequence 452085 from Patent EP1572962.
AK316226 - Homo sapiens cDNA, FLJ79125 complete cds, highly similar to Thymidine kinase 2, mitochondrial precursor(EC 2.7.1.21).
AK302976 - Homo sapiens cDNA FLJ59102 complete cds, highly similar to Thymidine kinase 2, mitochondrial precursor (EC 2.7.1.21).
BC113928 - Homo sapiens thymidine kinase 2, mitochondrial, mRNA (cDNA clone IMAGE:40031861).
BC134344 - Homo sapiens thymidine kinase 2, mitochondrial, mRNA (cDNA clone IMAGE:40031856), partial cds.
AK303590 - Homo sapiens cDNA FLJ61025 complete cds, highly similar to Homo sapiens thymidine kinase 2, mitochondrial (TK2), mRNA.
AK294627 - Homo sapiens cDNA FLJ59880 complete cds, highly similar to Thymidine kinase 2, mitochondrial precursor (EC 2.7.1.21).
JD478673 - Sequence 459697 from Patent EP1572962.
KJ901795 - Synthetic construct Homo sapiens clone ccsbBroadEn_11189 TK2 gene, encodes complete protein.
KR712196 - Synthetic construct Homo sapiens clone CCSBHm_00036894 TK2 (TK2) mRNA, encodes complete protein.
KR712197 - Synthetic construct Homo sapiens clone CCSBHm_00036898 TK2 (TK2) mRNA, encodes complete protein.
KR712198 - Synthetic construct Homo sapiens clone CCSBHm_00036905 TK2 (TK2) mRNA, encodes complete protein.
KR712199 - Synthetic construct Homo sapiens clone CCSBHm_00036907 TK2 (TK2) mRNA, encodes complete protein.
KJ897676 - Synthetic construct Homo sapiens clone ccsbBroadEn_07070 TK2 gene, encodes complete protein.
LF373933 - JP 2014500723-A/181436: Polycomb-Associated Non-Coding RNAs.
BC029263 - Homo sapiens thymidine kinase 2, mitochondrial, mRNA (cDNA clone IMAGE:5171196), with apparent retained intron.
MA443832 - JP 2018138019-A/15758: Polycomb-Associated Non-Coding RNAs.
MA609510 - JP 2018138019-A/181436: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7199 - pyrimidine deoxyribonucleosides salvage
PWY-7200 - superpathway of pyrimidine deoxyribonucleoside salvage

Reactome (by CSHL, EBI, and GO)

Protein O00142 (Reactome details) participates in the following event(s):

R-HSA-109759 deoxycytidine, thymidine, or deoxyuridine + ATP => dCMP, TMP, or dUMP + ADP [TK2]
R-HSA-73614 Pyrimidine salvage
R-HSA-8956321 Nucleotide salvage
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DGJ7, B4DZK7, B7ZAB1, E5KNQ5, E9PH08, ENST00000544898.1, ENST00000544898.2, ENST00000544898.3, ENST00000544898.4, ENST00000544898.5, KITM_HUMAN, NR_073520, O00142, O15238, TK2 , uc324vyu.1, uc324vyu.2
UCSC ID: ENST00000544898.6_10
RefSeq Accession: NM_004614.5
Protein: O00142 (aka KITM_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TK2:
tk2-mtddepl (TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.