Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol C10orf2 contributors: mct/npt - updated : 17-09-2014
HGNC name chromosome 10 open reading frame 2
HGNC id 1160
Corresponding disease
IOSCA infantile-onset spinocerebellar ataxia
PEO3 progressive external ophthalmoplegia, with mitochondrial DNA deletions, 3
Location 10q24.31      Physical location : 102.747.292 - 102.754.158
Synonym name
  • twinkle
  • T7 gene 4-like with intramitochondrial nucleoid localization
  • T7-like mitochondrial DNA helicase
  • ataxin 8
  • Synonym symbol(s) TWINKLE, FLJ21832, PEO, PEOA3, SANDO, TWINL, ATXN8, PEO1
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 6.87 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3584 77.2 684 highly in skeletal, in muscle, in pancreas/ lowly in heart/ colocalized with mt DNA in mitochondrial nucleoids Spelbrink, Sarzy (2007)
    variant 1 (full-length twinkle)
    5 splicing 3584 66 582 - Spelbrink (2001)
  • variant 2 (truncated twinky)
  • using a downstream exon4 splice donor site that leads to a 43 bp insertion between the regular exon 4-exon 5 sequence
  • could not hexamerize
  • monomer in solution and unable to interact and form higher order stoichiometric complexes with the wt TWINKLE protein
  • 5 - 1844 - 128 - -
    5 - 1800 - 230 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary  highly
     female systemuteruscervix highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a mitochondrial targeting sequence at the N terminus, primase-like domain, required for efficient binding to single-stranded DNA
  • a region involved in subunit interactions
  • a short linker region
  • a C-terminal DNA helicase domain, needed for hexamer formation
  • mono polymer hexamer
    HOMOLOGY
    interspecies homolog to murine Twinl
    homolog to phage T7 Gp4
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • DNA helicase required for replication of mitochondrial DNA
  • presumed to be critical for lifetime maintenance of human mitochondrial integrity
  • mt DNA helicase activity
  • playing a crucial role in the maintenance and/or function of specific affected neuronal subpopulations
  • nucleus-encoded human mitochondrial (mt)DNA helicase
  • strand annealing activity of C10orf2 may play a role in recombination-mediated replication initiation found in the mitochondria of mammalian brain and heart or in replication fork regression during repair of damaged DNA replication forks
  • a role of the DNA-binding site of C10orf2 in the observed DNA strand annealing activity
  • is the only replicative DNA helicase in mammalian mitochondria
  • is essential for nascent H-strand synthesis in the D-loop, thus showing that there is no separate DNA helicase responsible for replication of this region
  • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    text mt DNA integrity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA recruits or is assembled with mtDNA at the inner membrane to form a replication platform
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PEO3 , IOSCA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS