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Twnk Gene Detail
Summary
  • Symbol
    Twnk
  • Name
    twinkle mtDNA helicase
  • Synonyms
    D19Ertd626e, Peo1, twinkle, Twinl
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137410
    NCBI Gene: 226153
  • Gene Overview
    MyGene.info: TWNK
Location & Maps
more
  • Sequence Map
    Chr19:45006558-45012762 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6205 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 38.19 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TWNK, twinkle mtDNA helicase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TWNK, twinkle mtDNA helicase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
  • Links
    NCBI Gene ID: 56652
    neXtProt AC: NX_Q96RR1

  • Chr Location
    10q24.31; chr10:100987378-100994403 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11052
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TWNK
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Twnk mouse models; 4 with human TWNK associations

Human Disease Mouse Models
       Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3; PEOA3   OMIM: 609286 View 1 model
       Parkinson Disease, Mitochondrial   OMIM: 556500 View 1 model
       Mitochondrial DNA Depletion Syndrome 7 (hepatocerebral Type); MTDPS7   OMIM: 271245
Perrault Syndrome 5; PRLTS5   OMIM: 616138
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; SANDO   OMIM: 607459
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 7 alleles in 5 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Gene trapped
    6
  • Targeted
    4
  • Transgenic
    5
  • Incidental Mutations
Homozygous embryos display abnormal development. Embryos die around E8.5.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000025209 Ensembl Gene Model | MGI Sequence Detail 6205 C57BL/6J ±  kb
transcript ENSMUST00000026227 Ensembl | MGI Sequence Detail 3488 Not Applicable  
polypeptide ENSMUSP00000026227 Ensembl | MGI Sequence Detail 685 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    44 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 65
    cDNA 64
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1277099
References
more
  • Summaries
    All 34
    Diseases 2
    Gene Ontology 7
    Phenotypes 16
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:235406 Nikkanen J, et al., Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism. Cell Metab. 2016 Apr 12;23(4):635-48

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory