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TWNK (twinkle mtDNA helicase)

Identity

Alias_namesIOSCA
C10orf2
infantile onset spinocerebellar ataxia (autosomal recessive)
chromosome 10 open reading frame 2
Alias_symbol (synonym)PEO
PEO1
TWINKLE
FLJ21832
TWINL
Other aliasATXN8
MTDPS7
PEOA3
PRLTS5
SANDO
SCA8
HGNC (Hugo) TWNK
LocusID (NCBI) 56652
Atlas_Id 56615
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 102747293 and ends at 102754158 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute


External links

Nomenclature
HGNC (Hugo)TWNK   1160
Cards
Entrez_Gene (NCBI)TWNK  56652  twinkle mtDNA helicase
AliasesATXN8; C10orf2; IOSCA; MTDPS7; 
PEO; PEO1; PEOA3; PRLTS5; SANDO; SCA8; TWINL
GeneCards (Weizmann)TWNK
Ensembl hg19 (Hinxton)ENSG00000107815 [Gene_View]  chr10:102747293-102754158 [Contig_View]  TWNK [Vega]
Ensembl hg38 (Hinxton)ENSG00000107815 [Gene_View]  chr10:102747293-102754158 [Contig_View]  TWNK [Vega]
ICGC DataPortalENSG00000107815
TCGA cBioPortalTWNK
AceView (NCBI)TWNK
Genatlas (Paris)TWNK
WikiGenes56652
SOURCE (Princeton)TWNK
Genetics Home Reference (NIH)TWNK
Genomic and cartography
GoldenPath hg19 (UCSC)TWNK  -     chr10:102747293-102754158 +  10q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TWNK  -     10q24.31   [Description]    (hg38-Dec_2013)
EnsemblTWNK - 10q24.31 [CytoView hg19]  TWNK - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBITWNK [Mapview hg19]  TWNK [Mapview hg38]
OMIM271245   606075   607459   609286   616138   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001163812 NM_001163813 NM_001163814 NM_021830
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TWNK
Cluster EST : UnigeneHs.22678 [ NCBI ]
CGAP (NCI)Hs.22678
Alternative Splicing GalleryENSG00000107815
Gene ExpressionTWNK [ NCBI-GEO ]   TWNK [ EBI - ARRAY_EXPRESS ]   TWNK [ SEEK ]   TWNK [ MEM ]
Gene Expression Viewer (FireBrowse)TWNK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)56652
GTEX Portal (Tissue expression)TWNK
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TWNK
DMDM Disease mutations56652
Blocks (Seattle)TWNK
Human Protein AtlasENSG00000107815
HPRD05830
IPIIPI00102660   IPI00640641   IPI00654621   IPI00943680   IPI00943723   
Protein Interaction databases
FunCoupENSG00000107815
BioGRIDTWNK
STRING (EMBL)TWNK
ZODIACTWNK
Ontologies - Pathways
Huge Navigator TWNK [HugePedia]
snp3D : Map Gene to Disease56652
BioCentury BCIQTWNK
ClinGenTWNK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56652
Chemical/Pharm GKB GenePA162377675
Clinical trialTWNK
Miscellaneous
canSAR (ICR)TWNK (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTWNK
EVEXTWNK
GoPubMedTWNK
iHOPTWNK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:32:52 CET 2017

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