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Gene: TWNK (twinkle mtDNA helicase) Homo sapiens
Symbol: TWNK
Name: twinkle mtDNA helicase
RGD ID: 1317337
Description: Exhibits several functions, including 5'-3' DNA helicase activity; identical protein binding activity; and protease binding activity. Involved in cellular macromolecule biosynthetic process and protein hexamerization. Localizes to mitochondrial nucleoid. Implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ataxin 8; ATXN8; C10orf2; chromosome 10 open reading frame 2; FLJ21832; infantile onset spinocerebellar ataxia (autosomal recessive); IOSCA; IOSCA; MTDPS7; PEO; PEO1; PEOA3; PRLTS5; progressive external ophthalmoplegia 1 ; SANDO; SCA8; T7 gp4-like protein with intramitochondrial nucleoid localization; T7 helicase-related protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; twinkle protein, mitochondrial; TWINL
Mus musculus (house mouse) : Twnk (twinkle mtDNA helicase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Twnk (twinkle mtDNA helicase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Twnk (twinkle mtDNA helicase)
Pan paniscus (bonobo/pygmy chimpanzee) : TWNK (twinkle mtDNA helicase)
Canis lupus familiaris (dog) : TWNK (twinkle mtDNA helicase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Twnk (twinkle mtDNA helicase)
Sus scrofa (pig) : TWNK (twinkle mtDNA helicase)
Chlorocebus sabaeus (African green monkey) : TWNK (twinkle mtDNA helicase)
Heterocephalus glaber (naked mole-rat) : Twnk (twinkle mtDNA helicase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl10100,987,367 - 100,994,403 (+)EnsemblGRCh38hg38GRCh38
GRCh3810100,987,543 - 100,994,403 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710102,747,293 - 102,754,159 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,737,302 - 102,744,148 (+)NCBINCBI36hg18NCBI36
Build 3410102,737,301 - 102,744,148NCBI
Celera1096,485,015 - 96,491,881 (+)NCBI
Cytogenetic Map10q24.31NCBI
HuRef1096,376,620 - 96,383,636 (+)NCBIHuRef
CHM1_110103,031,503 - 103,038,362 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TWNK
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1317337
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.