Human Gene TWNK (uc010qpv.1)
  Description: Homo sapiens chromosome 10 open reading frame 2 (TWNK), transcript variant 3, mRNA.
RefSeq Summary (NM_001163813): 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 results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009].
Transcript (Including UTRs)
   Position: hg19 chr10:102,747,293-102,754,158 Size: 6,866 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr10:102,749,520-102,753,267 Size: 3,748 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:102,747,293-102,754,158)mRNA (may differ from genome)Protein (230 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
LynxMalacardsMGIOMIMPubMedTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  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: TWNK
Diseases sorted by gene-association score: mitochondrial dna depletion syndrome 7* (1697), progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3* (1333), perrault syndrome 5* (1329), twnk-related mitochondrial dna depletion syndrome, hepatocerebral form* (500), mitochondrial dna depletion syndrome, hepatocerebrorenal form* (350), mitochondrial recessive ataxia syndrome* (301), mitochondrial dna depletion syndrome 3* (283), autosomal dominant progressive external ophthalmoplegia* (185), perrault syndrome* (177), twnk-related ataxia neuropathy spectrum disorders* (100), chronic progressive external ophthalmoplegia (39), athetosis (13), spinocerebellar ataxia 8 (8), axonal neuropathy (8), diabetic polyneuropathy (7), mitochondrial dna depletion syndrome 4a (7), baller-gerold syndrome (7), warsaw breakage syndrome (6), ataxia (5), 3-methylglutaconic aciduria, type v (5), hereditary ataxia (5), kearns-sayre syndrome (5), ocular motility disease (5), mitochondrial disorders (5), myoclonic epilepsy associated with ragged-red fibers (4), myopathy (2)
* = Manually curated disease association

+  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: 9.60 RPKM in Testis
Total median expression: 155.52 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 -61.40197-0.312 Picture PostScript Text
3' UTR -311.09891-0.349 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
IPR007694 - DNA_helicase_DnaB-like_C

Pfam Domains:
PF03796 - DnaB-like helicase C terminal domain
PF13481 - AAA domain

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

ModBase Predicted Comparative 3D Structure on B4DLM7
FrontTopSide
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003678 DNA helicase activity
GO:0005524 ATP binding

Biological Process:
GO:0006260 DNA replication
GO:0032508 DNA duplex unwinding


-  Descriptions from all associated GenBank mRNAs
  AK308098 - Homo sapiens cDNA, FLJ98046.
AK297068 - Homo sapiens cDNA FLJ50799 complete cds, highly similar to Twinkle protein, mitochondrial precursor (EC 3.6.1.-).
BX640829 - Homo sapiens mRNA; cDNA DKFZp686O01205 (from clone DKFZp686O01205).
AF292004 - Homo sapiens putative T7-like mitochondrial DNA helicase (C10orf2) mRNA, complete cds; nuclear gene for mitochondrial product; alternatively spliced.
AF292005 - Homo sapiens truncated putative T7-like mitochondrial DNA helicase (C10orf2) mRNA, complete cds; nuclear gene for mitochondrial product; alternatively spliced.
BC033762 - Homo sapiens chromosome 10 open reading frame 2, mRNA (cDNA clone MGC:44998 IMAGE:3854007), complete cds.
BC013349 - Homo sapiens chromosome 10 open reading frame 2, mRNA (cDNA clone IMAGE:3954451), partial cds.
AK025485 - Homo sapiens cDNA: FLJ21832 fis, clone HEP01571.
CU689728 - Synthetic construct Homo sapiens gateway clone IMAGE:100023236 5' read PEO1 mRNA.
KJ902911 - Synthetic construct Homo sapiens clone ccsbBroadEn_12305 C10orf2 gene, encodes complete protein.
KR710836 - Synthetic construct Homo sapiens clone CCSBHm_00017589 C10orf2 (C10orf2) mRNA, encodes complete protein.
KR710837 - Synthetic construct Homo sapiens clone CCSBHm_00017590 C10orf2 (C10orf2) mRNA, encodes complete protein.
KR710838 - Synthetic construct Homo sapiens clone CCSBHm_00017592 C10orf2 (C10orf2) mRNA, encodes complete protein.
KR710839 - Synthetic construct Homo sapiens clone CCSBHm_00017616 C10orf2 (C10orf2) mRNA, encodes complete protein.
AK022959 - Homo sapiens cDNA FLJ12897 fis, clone NT2RP2004207.
JD445936 - Sequence 426960 from Patent EP1572962.
JD077316 - Sequence 58340 from Patent EP1572962.
JD290962 - Sequence 271986 from Patent EP1572962.
JD280422 - Sequence 261446 from Patent EP1572962.
JD063495 - Sequence 44519 from Patent EP1572962.
JD507116 - Sequence 488140 from Patent EP1572962.
JD514774 - Sequence 495798 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DLM7, B4DLM7_HUMAN, C10orf2, NM_001163813, NP_001157285
UCSC ID: uc010qpv.1
RefSeq Accession: NM_001163813
Protein: B4DLM7

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TWNK:
ataxias (Hereditary Ataxia Overview)
perrault (Perrault Syndrome)
sca-io (Infantile-Onset Spinocerebellar Ataxia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001163813.1
exon count: 5CDS single in 3' UTR: no RNA size: 1800
ORF size: 693CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1070.00frame shift in genome: no % Coverage: 98.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.