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Tbio
TWNK
Twinkle protein, mitochondrial

Protein Summary
Description
Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals. This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing resu ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000311916
  • ENSP00000309595
  • ENSG00000107815
  • ENST00000370228
  • ENSP00000359248
  • ENST00000643860
  • ENSP00000494389

Symbol
  • C10orf2
  • PEO1
  • PEO
  • PEO1
  • SCA8
  • ATXN8
  • IOSCA
  • PEOA3
  • SANDO
  • TWINL
  • MTDPS7
  • PRLTS5
  • C10orf2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 269.18   (req: < 5)
Gene RIFs: 49   (req: <= 3)
Antibodies: 208   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 269.18   (req: >= 5)
Gene RIFs: 49   (req: > 3)
Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (3)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (100)
PRIMPOL
Tbio
Family:  Enzyme
Novelty:  0.01285041
p_int:  0.9999972
p_ni:  0.0000028
Score:  0.672
Data Source:  BioPlex,STRINGDB
MAP7
Tbio
Novelty:  0.01976296
p_int:  0.99999388
p_ni:  0.000006116
p_wrong:  4e-9
Data Source:  BioPlex
MZF1
Tbio
Family:  TF
Novelty:  0.01193919
p_int:  0.999992441
p_ni:  0.000007559
Data Source:  BioPlex
ZNF263
Tbio
Family:  TF
Novelty:  0.098799
p_int:  0.999987745
p_ni:  0.000012255
Data Source:  BioPlex
ZNF169
Tdark
Family:  TF
Novelty:  1.09432767
p_int:  0.999985605
p_ni:  0.000014395
Data Source:  BioPlex
ZC3H18
Tdark
Novelty:  0.3515546
p_int:  0.999976474
p_ni:  0.000023526
Data Source:  BioPlex
LGALS3BP
Tbio
Novelty:  0.0025302
p_int:  0.99994902
p_ni:  0.00005098
Data Source:  BioPlex
RBMX
Tbio
Novelty:  0.01705784
p_int:  0.998988428
p_ni:  0.001011569
p_wrong:  4e-9
Score:  0.277
Data Source:  BioPlex,STRINGDB
MECP2
Tchem
Family:  TF
Novelty:  0.00051767
p_int:  0.995458421
p_ni:  0.004539043
p_wrong:  0.000002536
Score:  0.165
Data Source:  BioPlex,STRINGDB
TRA2A
Tbio
Novelty:  0.04935993
p_int:  0.995024365
p_ni:  0.004975452
p_wrong:  1.83e-7
Data Source:  BioPlex
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (0)
No pathways found
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal topography
3
1
3
84.6
serum gamma-glutamyl transferase measurement
1
2
2
58.3
mitochondrial heteroplasmy measurement
1
1
1
53.7
refractive error measurement
2
2
2
5.5
42.1
puberty onset measurement
1
1
1
33.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
corneal topography
3
84.6
serum gamma-glutamyl transferase measurement
2
58.3
mitochondrial heteroplasmy measurement
1
53.7
refractive error measurement
2
5.5
42.1
puberty onset measurement
1
33.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
twinkle mtDNA helicase
VGNC:3820
745279
Mouse
MGI:2137410
226153
Rat
RGD:1307884
309441
Dog
twinkle mtDNA helicase
VGNC:48003
486845
Horse
twinkle mtDNA helicase
VGNC:24670
100070286
Species
Name
OMA
EggNOG
Inparanoid
Chimp
twinkle mtDNA helicase
Mouse
Rat
Dog
twinkle mtDNA helicase
Horse
twinkle mtDNA helicase
Publication Statistics
PubMed Score 269.18
PubMed score by year
PubTator Score 129.41
PubTator score by year
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Related Publications
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PMID
Year
Title