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C10orf2 Gene

protein-coding   GIFtS: 53
GCID: GC10P102750

Chromosome 10 Open Reading Frame 2

(Previous name: infantile onset spinocerebellar ataxia (autosomal recessive))
(Previous symbol: IOSCA)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 10 Open Reading Frame 21 2     ATXN82
IOSCA1 2 5     PEO2
T7 Helicase-Related Protein With Intramitochondrial Nucleoid Localization1 2     SANDO2
Progressive External Ophthalmoplegia 1 Protein2 3     SCA82
T7 Gp4-Like Protein With Intramitochondrial Nucleoid Localization2 3     TWINL2
T7-Like Mitochondrial DNA Helicase2 3     Ataxin 82
MTDPS72 5     Mitochondrial Twinkle Protein2
PEO12 5     Twinkle Protein, Mitochondrial2
PEOA32 5     EC 3.6.4.123
Infantile Onset Spinocerebellar Ataxia (Autosomal Recessive)1     TWINKLE5
twinkle1     

External Ids:    HGNC: 11601   Entrez Gene: 566522   Ensembl: ENSG000001078157   OMIM: 6060755   UniProtKB: Q96RR13   

Export aliases for C10orf2 gene to outside databases

Previous GC identifers: GC10P101640 GC10P101981 GC10P102878 GC10P102738 GC10P096376


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3, and c10orf2-related ataxia neuropathy spectrum disorders. GO annotations related to this gene include single-stranded DNA binding and 5'-3' DNA helicase activity.

UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
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

Gene Wiki entry for C10orf2 (PEO1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C10orf2 gene promoter:
         COUP-TF1   RFX1   Pax-5   p53   COUP   HNF-4alpha2   Evi-1   HNF-4alpha1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC10orf2 promoter sequence
   Search Chromatin IP Primers for C10orf2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C10orf2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24

C10orf2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C10orf2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102750:  view genomic region     (about GC identifiers)

Start:
102,747,124 bp from pter      End:
102,754,158 bp from pter
Size:
7,035 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1 (See protein sequence)
Recommended Name: Twinkle protein, mitochondrial precursor  
Size: 684 amino acids; 77154 Da
Subunit: Forms multimers in vitro, including hexamers. Interacts with POLG in vitro
Secondary accessions: B2CQL2 Q6MZX2 Q6PJP5 Q96RR0
Alternative splicing: 3 isoforms:  Q96RR1-1   Q96RR1-2   Q96RR1-3   

Explore the universe of human proteins at neXtProt for C10orf2: NX_Q96RR1

Explore proteomics data for C10orf2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C10orf2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001157284.1  NP_001157285.1  NP_001157286.1  NP_068602.2  

    ENSEMBL proteins: 
     ENSP00000309595   ENSP00000359248  
    Reactome Protein details: Q96RR1

    C10orf2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR007694 DNA_helicase_DnaB-like_C
     IPR027417 P-loop_NTPase
     IPR027032 Twinkle

    Graphical View of Domain Structure for InterPro Entry Q96RR1

    ProtoNet protein and cluster: Q96RR1

    UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
    Similarity: Contains 1 SF4 helicase domain


    C10orf2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEO1_HUMAN, Q96RR1
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.121

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI14739292
    GO:0003678DNA helicase activity ----
    GO:0003697single-stranded DNA binding IDA18971204
    GO:0005524ATP binding IEA--
    GO:00431395'-3' DNA helicase activity IDA12975372
         
    C10orf2 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Peo1):
     cardiovascular system  cellular  embryogenesis  mortality/aging 

    C10orf2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Peo1tm1.2Lrsn for C10orf2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C10orf2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C10orf2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C10orf2

    miRNA
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    miRTarBase miRNAs that target C10orf2:
    hsa-mir-103a-3p (MIRT027150), hsa-mir-183-5p (MIRT024994), hsa-mir-98-5p (MIRT027723)

    Block miRNA regulation of human, mouse, rat C10orf2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate C10orf2:
    hsa-miR-548a-3p hsa-miR-875-3p hsa-miR-548e hsa-miR-3148 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidC10orf2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEO1_HUMAN, Q96RR1: 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: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0042645mitochondrial nucleoid IDA18063578

    C10orf2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for C10orf2
        Transcriptional activation of mitochondrial biogenesis



    C10orf2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C10orf2
    Interactions:

        Search GeneGlobe Interaction Network for C10orf2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C10orf2 (Q96RR12, 3 ENSP000003095954) via UniProtKB, MINT, STRING, and/or I2D (see all 313)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKTIPQ9H8T02, 3, ENSP000003002454MINT-64325 I2D: score=5 STRING: ENSP00000300245
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SQSTM1Q135013, ENSP000003744554I2D: score=3 STRING: ENSP00000374455
    SPAG9O602713, ENSP000002620134I2D: score=2 STRING: ENSP00000262013
    SLC25A3Q003252, ENSP000002283184MINT-8079030 STRING: ENSP00000228318
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication ----
    GO:0006264mitochondrial DNA replication NAS12975372
    GO:0006268DNA unwinding involved in DNA replication IEA--
    GO:0006390transcription from mitochondrial promoter IMP18971204
    GO:0008219cell death IEA--

    C10orf2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C10orf2 (PEO1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C10orf2 gene (4 alternative transcripts): 
    NM_001163812.1  NM_001163813.1  NM_001163814.1  NM_021830.4  

    Unigene Cluster for C10orf2:

    Chromosome 10 open reading frame 2
    Hs.22678  [show with all ESTs]
    Unigene Representative Sequence: NM_001163812
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476766 ENST00000473656 ENST00000459764 ENST00000311916(uc001ksf.2 uc010qpv.1 uc021pxb.1)
    ENST00000370228(uc001ksg.2 uc001ksi.2)
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate C10orf2:
    hsa-miR-548a-3p hsa-miR-875-3p hsa-miR-548e hsa-miR-3148 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidC10orf2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF292004.1 AF292005.1 AK022959.1 AK025485.1 AK297068.1 AK308098.1 BC013349.2 BC033762.1 

    10 DOTS entries:

    DT.97846893  DT.121293577  DT.210174  DT.121293557  DT.95288120  DT.95353221  DT.92454503  DT.92454510 
    DT.95070218  DT.100715950 

    Selected AceView cDNA sequences (see all 200):

    BM467366 BM549083 BX354971 CA450490 CR593649 BQ643363 AK022959 BQ059754 
    BC013349 BQ066500 AI690010 F10278 AF292004 BQ058029 BE743851 BQ934674 
    CB159220 AF292005 F12667 BM556975 BQ643111 BF795117 BM808456 CR626239 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C10orf2    About this scheme

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


    ECgene alternative splicing isoforms for C10orf2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C10orf2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTAGAATT
    C10orf2 Expression
    About this image

    C10orf2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C10orf2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22678

    UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for C10orf2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Peo11 , 5 progressive external ophthalmoplegia 1 (human)1, 5 84.87(n)1
    87.12(a)1
      19 (38.19 cM)5
    2261531  NM_153796.31  NP_722491.21 
     450065585 
    chicken
    (Gallus gallus)
    Aves PEO11 progressive external ophthalmoplegia 1 67.34(n)
    69.92(a)
      425626  NM_001031344.1  NP_001026515.1 
    lizard
    (Anolis carolinensis)
    Reptilia C10orf26
    chromosome 10 open reading frame 2
    67(a)
    1 ↔ 1
    3(39284052-39292675)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.347672 Xenopus laevis transcribed sequence with moderate similarity more 77.32(n)    BJ053748.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi04d092 Transcribed sequence with weak similarity to protein more 77.35(n)    57062678 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59241 , 3 CG59241 52(a)3
    50.46(n)1
    41.87(a)1
      30E13
    343071  NM_135474.21  NP_609318.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F46G11.11 , 3 F46G11.11 33(a)3
    47.6(n)1
    38.51(a)1
      X(5829305-5832449)3
    1808451  NM_076572.41  NP_508973.31 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C10orf2 gene
    1 SIMAP similar gene for C10orf2 using alignment to 1 protein entry:     Q9H6V3_HUMAN:
    PEO1

    C10orf2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C10orf2 (see all 279)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1110335751,2
    Cpathogenic1103109947(+) GTCCTA/G/TGGAAG 6 W L mis1 int10--------
    rs803565421,2
    Cpathogenic1103109955(+) AAGCCA/GCCAAG 6 T A mis1 int10--------
    rs803565431,2
    Cpathogenic1103109958(+) CCGCCA/C/GAGTTG 6 K E mis1 int10--------
    rs289378871,2
    Cpathogenic1103110004(+) GGTGCA/G/TACCAG 6 Q R mis1 int1 ese30--------
    rs1110335761,2
    Cpathogenic1103110064(+) TTCTCC/GTATTC 6 P R mis1 int10--------
    rs1110335731,2
    Cpathogenic1103110078(+) GTACCA/G/TCCCTG 6 T A mis1 int10--------
    rs1110335791,2
    Cpathogenic1103110109(+) CGTATA/C/TTTTCC 6 Y S mis1 int10--------
    rs1110335771,2
    Cpathogenic1103110145(+) AGAACC/G/TGTCAA 6 P L mis1 int10--------
    rs803565441,2
    Cpathogenic1103110563(+) GCTGAC/TACAGT 8 T I mis10--------
    rs1110335721,2
    Cpathogenic1103110616(+) ACTGGC/GCTGAC 8 P A mis10--------

    HapMap Linkage Disequilibrium report for C10orf2 (102747124 - 102754158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for C10orf2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517698CNV Loss19592680
    nsv467443CNV Loss19166990
    nsv895963CNV Loss21882294
    nsv895961CNV Loss21882294
    dgv813n71CNV Loss21882294
    nsv831965CNV Loss17160897
    nsv895964CNV Loss21882294

    Human Gene Mutation Database (HGMD): C10orf2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C10orf2
    DNA2.0 Custom Variant and Variant Library Synthesis for C10orf2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606075   
    OMIM disorders: 609286  271245  
    UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for C10orf2 (see all 48):    
    About MalaCards
    progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3    c10orf2-related ataxia neuropathy spectrum disorders    ophthalmoplegia    c10orf2-related mitochondrial dna depletion syndrome, hepatocerebral form
    mitochondrial dna depletion syndrome 7    progressive external ophthalmoplegia, autosomal dominant, 3    mitochondrial dna depletion syndrome, hepatocerebrorenal form    ataxia neuropathy spectrum
    polg-related disorders    dguok-related mitochondrial dna depletion syndrome, hepatocerebral form    sensory ataxic neuropathy, dysarthria, and ophthalmoparesis    infantile onset spinocerebellar ataxia
    mitochondrial dna depletion syndrome, hepatocerebral form    athetosis    hereditary ataxia    autosomal dominant progressive external ophthalmoplegia
    alpers syndrome    diabetic polyneuropathy    chronic progressive external ophthalmoplegia    dentatorubral-pallidoluysian atrophy

    6 diseases from the University of Copenhagen DISEASES database for C10orf2:
    Chronic progressive external ophthalmoplegia     Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Cerebellar ataxia
    Alpers syndrome     Neuropathy

    C10orf2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for C10orf2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progressive external ophthalmoplegia 94.7 5 14557557 (1), 18575922 (1), 20479361 (1), 19705478 (1) (see all 5)
    mitochondrial diseases 84.1 1 16401742 (1)

    GeneTests: C10orf2
    GeneReviews: C10orf2
    Human Genome Epidemiology (HuGE) Navigator: C10orf2 (8 documents)

    Export disorders for C10orf2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for C10orf2 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with C10orf2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. (PubMed id 16135556)1, 2, 3, 9 Nikali K.... Peltonen L. (Hum. Mol. Genet. 2005)
    2. Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria. (PubMed id 11431692)1, 2, 3 Spelbrink J.N.... Larsson C. (Nat. Genet. 2001)
    3. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. (PubMed id 20479361)1, 2, 9 Fratter C....Taylor R.W. (Neurology 2010)
    4. Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia. (PubMed id 18575922)1, 2, 9 Virgilio R.... Comi G.P. (J. Neurol. 2008)
    5. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. (PubMed id 17722119)1, 2, 9 Sarzi E.... Roetig A. (Ann. Neurol. 2007)
    6. Molecular analysis in a family presenting with a mild form of late- onset autosomal dominant chronic progressive external ophthalmoplegia. (PubMed id 19428252)1, 2, 9 Negro R.... Petruzzella V. (Neuromuscul. Disord. 2009)
    7. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. (PubMed id 18396044)1, 2, 9 Jeppesen T.D.... Vissing J. (Neuromuscul. Disord. 2008)
    8. Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. (PubMed id 22353293)1, 2 Dundar H.... Dursun A. (Pediatr. Neurol. 2012)
    9. TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. (PubMed id 20880070)1, 2 Martin-Negrier M.L....Vital A. (Eur. J. Neurol. 2011)
    10. Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. (PubMed id 19853444)1, 2 Bohlega S.... Kambouris M. (Neuromuscul. Disord. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56652 HGNC: 1160 AceView: PEO1 Ensembl:ENSG00000107815 euGenes: HUgn56652
    ECgene: C10orf2 H-InvDB: C10orf2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for C10orf2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=C10orf2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/peo1/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C10orf2 gene:
    Search GeneIP for patents involving C10orf2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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