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Aliases for C10orf2 Gene

Aliases for C10orf2 Gene

  • Chromosome 10 Open Reading Frame 2 2 3 5
  • T7 Helicase-Related Protein With Intramitochondrial Nucleoid Localization 2 3
  • T7 Gp4-Like Protein With Intramitochondrial Nucleoid Localization 3 4
  • Progressive External Ophthalmoplegia 1 Protein 3 4
  • T7-Like Mitochondrial DNA Helicase 3 4
  • PEO1 3 4
  • Infantile Onset Spinocerebellar Ataxia (Autosomal Recessive) 2
  • Mitochondrial Twinkle Protein 3
  • EC 3.6.4.12 4
  • Ataxin 8 3
  • Twinkle 2
  • MTDPS7 3
  • PRLTS5 3
  • ATXN8 3
  • PEOA3 3
  • SANDO 3
  • TWINL 3
  • IOSCA 3
  • SCA8 3
  • PEO 3

External Ids for C10orf2 Gene

Previous HGNC Symbols for C10orf2 Gene

  • IOSCA

Previous GeneCards Identifiers for C10orf2 Gene

  • GC10P101640
  • GC10P101981
  • GC10P102878
  • GC10P102738
  • GC10P096376
  • GC10P102750

Summaries for C10orf2 Gene

Entrez Gene Summary for C10orf2 Gene

  • 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]

GeneCards Summary for C10orf2 Gene

C10orf2 (Chromosome 10 Open Reading Frame 2) is a Protein Coding gene. Diseases associated with C10orf2 include Mitochondrial Dna Depletion Syndrome 7 and Perrault Syndrome 5. Among its related pathways are Organelle biogenesis and maintenance and Transcriptional activation of mitochondrial biogenesis. GO annotations related to this gene include protease binding and DNA helicase activity.

UniProtKB/Swiss-Prot for C10orf2 Gene

  • Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.

Gene Wiki entry for C10orf2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C10orf2 Gene

Genomics for C10orf2 Gene

Regulatory Elements for C10orf2 Gene

Enhancers for C10orf2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C10orf2 on UCSC Golden Path with GeneCards custom track

Promoters for C10orf2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C10orf2 on UCSC Golden Path with GeneCards custom track

Genomic Location for C10orf2 Gene

Chromosome:
10
Start:
100,987,367 bp from pter
End:
100,994,403 bp from pter
Size:
7,037 bases
Orientation:
Plus strand

Genomic View for C10orf2 Gene

Genes around C10orf2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C10orf2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C10orf2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C10orf2 Gene

Proteins for C10orf2 Gene

  • Protein details for C10orf2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RR1-PEO1_HUMAN
    Recommended name:
    Twinkle protein, mitochondrial
    Protein Accession:
    Q96RR1
    Secondary Accessions:
    • B2CQL2
    • Q6MZX2
    • Q6PJP5
    • Q96RR0

    Protein attributes for C10orf2 Gene

    Size:
    684 amino acids
    Molecular mass:
    77154 Da
    Quaternary structure:
    • Forms multimers in vitro, including hexamers. Interacts with POLG in vitro.

    Alternative splice isoforms for C10orf2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C10orf2 Gene

Proteomics data for C10orf2 Gene at MOPED

Post-translational modifications for C10orf2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C10orf2 Gene

No data available for DME Specific Peptides for C10orf2 Gene

Domains & Families for C10orf2 Gene

Gene Families for C10orf2 Gene

Protein Domains for C10orf2 Gene

Suggested Antigen Peptide Sequences for C10orf2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RR1

UniProtKB/Swiss-Prot:

PEO1_HUMAN :
  • Contains 1 SF4 helicase domain.
Domain:
  • Contains 1 SF4 helicase domain.
genes like me logo Genes that share domains with C10orf2: view

Function for C10orf2 Gene

Molecular function for C10orf2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.

Enzyme Numbers (IUBMB) for C10orf2 Gene

Gene Ontology (GO) - Molecular Function for C10orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14739292
genes like me logo Genes that share ontologies with C10orf2: view
genes like me logo Genes that share phenotypes with C10orf2: view

Human Phenotype Ontology for C10orf2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C10orf2 Gene

MGI Knock Outs for C10orf2:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targets and HOMER Transcription for C10orf2 Gene

Localization for C10orf2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C10orf2 Gene

Mitochondrion matrix, mitochondrion nucleoid. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C10orf2 Gene COMPARTMENTS Subcellular localization image for C10orf2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for C10orf2 Gene

Pathways & Interactions for C10orf2 Gene

genes like me logo Genes that share pathways with C10orf2: view

Pathways by source for C10orf2 Gene

Gene Ontology (GO) - Biological Process for C10orf2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006268 DNA unwinding involved in DNA replication IEA --
GO:0006390 transcription from mitochondrial promoter IMP 18971204
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with C10orf2: view

No data available for SIGNOR curated interactions for C10orf2 Gene

Drugs & Compounds for C10orf2 Gene

(1) Drugs for C10orf2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for C10orf2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with C10orf2: view

Transcripts for C10orf2 Gene

Unigene Clusters for C10orf2 Gene

Chromosome 10 open reading frame 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C10orf2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b
SP1: - - - -
SP2: - -
SP3: -
SP4: - -
SP5: - -

Relevant External Links for C10orf2 Gene

GeneLoc Exon Structure for
C10orf2
ECgene alternative splicing isoforms for
C10orf2

Expression for C10orf2 Gene

mRNA expression in normal human tissues for C10orf2 Gene

Protein differential expression in normal tissues from HIPED for C10orf2 Gene

This gene is overexpressed in Heart (53.2), Testis (8.4), and Blymphocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C10orf2 Gene



SOURCE GeneReport for Unigene cluster for C10orf2 Gene Hs.22678

mRNA Expression by UniProt/SwissProt for C10orf2 Gene

Q96RR1-PEO1_HUMAN
Tissue specificity: High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.
genes like me logo Genes that share expression patterns with C10orf2: view

Protein tissue co-expression partners for C10orf2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for C10orf2 Gene

Orthologs for C10orf2 Gene

This gene was present in the common ancestor of animals.

Orthologs for C10orf2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C26H10orf2 35
  • 88.58 (n)
  • 89.02 (a)
C26H10ORF2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C28H10orf2 35
  • 87.96 (n)
  • 87.87 (a)
C10orf2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Peo1 35
  • 84.87 (n)
  • 87.12 (a)
Peo1 16
Peo1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf2 35
  • 98.77 (n)
  • 98.89 (a)
C10orf2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Peo1 35
  • 84.41 (n)
  • 86.36 (a)
oppossum
(Monodelphis domestica)
Mammalia C10orf2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves PEO1 35
  • 67.34 (n)
  • 69.92 (a)
PEO1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C10orf2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491229 35
  • 66.28 (n)
  • 67.66 (a)
Str.15313 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34767 35
zebrafish
(Danio rerio)
Actinopterygii peo1 35
  • 61.81 (n)
  • 62.65 (a)
wufi04d09 35
C10orf2 36
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5924 37
  • 52 (a)
CG5924 35
  • 50.46 (n)
  • 41.87 (a)
CG5924 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010720 35
  • 59.47 (n)
  • 58.15 (a)
worm
(Caenorhabditis elegans)
Secernentea F46G11.1 37
  • 33 (a)
F46G11.1 35
  • 47.6 (n)
  • 38.51 (a)
F46G11.1 36
  • 29 (a)
OneToOne
Species with no ortholog for C10orf2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for C10orf2 Gene

ENSEMBL:
Gene Tree for C10orf2 (if available)
TreeFam:
Gene Tree for C10orf2 (if available)

Paralogs for C10orf2 Gene

(1) SIMAP similar genes for C10orf2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with C10orf2: view

No data available for Paralogs for C10orf2 Gene

Variants for C10orf2 Gene

Sequence variations from dbSNP and Humsavar for C10orf2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs3740485 -- 100,990,864(+) GATGG(C/T)GTAGG intron-variant
rs3740486 -- 100,990,866(+) TGGCG(C/T)AGGAT intron-variant
rs3740487 -- 100,991,026(+) TTTAG(A/C/T)GGAGC intron-variant, nc-transcript-variant, utr-variant-3-prime
rs3740488 -- 100,994,276(+) CATAG(A/T)AGGAA utr-variant-3-prime
rs3740489 -- 100,994,481(+) TTGGG(A/G)ATGGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for C10orf2 Gene

Variant ID Type Subtype PubMed ID
nsv831965 CNV Loss 17160897
nsv467443 CNV Loss 19166990
nsv517698 CNV Loss 19592680
nsv895961 CNV Loss 21882294
dgv813n71 CNV Loss 21882294
nsv895963 CNV Loss 21882294
nsv895964 CNV Loss 21882294

Variation tolerance for C10orf2 Gene

Residual Variation Intolerance Score: 7.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C10orf2 Gene

Human Gene Mutation Database (HGMD)
C10orf2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C10orf2 Gene

Disorders for C10orf2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for C10orf2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 7
  • spinocerebellar ataxia 8
perrault syndrome 5
  • prlts5
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3
  • chronic progressive external ophthalmoplegia
mitochondrial recessive ataxia syndrome
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
mitochondrial dna depletion syndrome, hepatocerebrorenal form
  • mtdna depletion syndrome, hepatocerebrorenal form
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PEO1_HUMAN
  • Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. {ECO:0000269 PubMed:16135556, ECO:0000269 PubMed:17722119, ECO:0000269 PubMed:17921179, ECO:0000269 PubMed:19853444, ECO:0000269 PubMed:22353293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Perrault syndrome 5 (PRLTS5) [MIM:616138]: A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269 PubMed:25355836}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269 PubMed:11431692, ECO:0000269 PubMed:12163192, ECO:0000269 PubMed:12921794, ECO:0000269 PubMed:16639411, ECO:0000269 PubMed:17614277, ECO:0000269 PubMed:18396044, ECO:0000269 PubMed:18575922, ECO:0000269 PubMed:19353676, ECO:0000269 PubMed:19428252, ECO:0000269 PubMed:20479361, ECO:0000269 PubMed:20880070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. {ECO:0000269 PubMed:15668446}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C10orf2

Human Genome Epidemiology (HuGE) Navigator
C10orf2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C10orf2
genes like me logo Genes that share disorders with C10orf2: view

No data available for Genatlas for C10orf2 Gene

Publications for C10orf2 Gene

  1. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. (PMID: 16135556) Nikali K. … Peltonen L. (Hum. Mol. Genet. 2005) 2 3 4 23 67
  2. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. (PMID: 20479361) Fratter C. … Taylor R.W. (Neurology 2010) 3 23
  3. Recessive twinkle mutations cause severe epileptic encephalopathy. (PMID: 19304794) LAPnnqvist T. … Pihko H. (Brain 2009) 3 23
  4. Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (PMID: 19428252) Negro R. … Petruzzella V. (Neuromuscul. Disord. 2009) 3 23
  5. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. (PMID: 18396044) Jeppesen T.D. … Vissing J. (Neuromuscul. Disord. 2008) 3 23

Products for C10orf2 Gene

Sources for C10orf2 Gene

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