C10orf2 Gene
protein-coding GIFtS: 53
GCID: GC10P102738
|
|
chromosome 10 open reading frame 2(Previous name: infantile onset spinocerebellar ataxia (autosomal recessive)...)
(Previous symbol: IOSCA)
| |
Aliases
for C10orf2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 10 Open Reading Frame 21 2 | | FLJ218321 | | IOSCA1 2 5 | | Infantile Onset Spinocerebellar Ataxia (Autosomal Recessive)1 | | PEO11 2 5 | | ATXN82 | | PEO1 2 | | SANDO2 | | TWINL1 2 | | SCA82 | | Progressive External Ophthalmoplegia 1 Protein2 3 | | Ataxin 82 | | T7 Gp4-Like Protein With Intramitochondrial Nucleoid Localization2 3 | | Mitochondrial Twinkle Protein2 | | T7-Like Mitochondrial DNA Helicase2 3 | | T7 Helicase-Related Protein With Intramitochondrial Nucleoid Localization2 | | TWINKLE1 5 | | Twinkle Protein, Mitochondrial2 | | MTDPS72 5 | | EC 3.6.4.123 | | PEOA32 5 | | |
Export aliases for C10orf2 gene to outside databasesPrevious GC identifers: GC10P101640 GC10P101981 GC10P102878 GC10P096376 |
Summaries
for C10orf2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for C10orf2:
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 toplay 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 multipletranscript variants encoding distinct isoforms.(provided by RefSeq, Aug 2009)
UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Function: Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNAhelicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combinationwith POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesizesingle-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals
Gene Wiki entry for C10orf2 (PEO1)
|
Genomic Views
for C10orf2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for C10orf2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 10q24C10orf2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P102738: 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 |
|
Proteins
for C10orf2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Mitochondrion matrix, mitochondrion nucleoid. Note=Colocalizes with mtDNA in mitochondrialnucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probablyinvolved in mtDNA maintenance and expression
Secondary accessions: B2CQL2 Q6MZX2 Q6PJP5 Q96RR0Alternative splicing: 3 isoforms: Q96RR1-1 Q96RR1-2 Q96RR1-3 Explore the universe of human proteins at neXtProt for C10orf2: NX_Q96RR1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96RR1
C10orf2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001157284.1 NP_001157285.1 NP_001157286.1 NP_068602.2
ENSEMBL proteins: ENSP00000309595 ENSP00000359248
Human Recombinant Protein Products for C10orf2:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
C10orf2 for ontologies About GeneDecksing
C10orf2 Antibody Products:
Assay Products for C10orf2: |
Protein
Domains /
Families
for C10orf2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C10orf2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96RR1ProtoNet protein and cluster: Q96RR1 UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Similarity: Contains 1 SF4 helicase domain |
Function
for C10orf2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: PEO1_HUMAN, Q96RR1Function: Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNAhelicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combinationwith POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesizesingle-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammalsCatalytic activity: ATP + H(2)O = ADP + phosphate Enzyme Number (IUBMB): EC 3.6.4.121
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
C10orf2 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 (see all 4)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: C10orf2 (NM_014472) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C10orf2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C10orf2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C10orf2 |
|
Pathways & Interactions
for C10orf2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C10orf2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 16)
5/278 Interacting proteins for C10orf2 (Q96RR12, 3 ENSP000003095954) via UniProtKB, MINT, STRING, and/or I2D (see all 278)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
C10orf2 for ontologies About GeneDecksing
|
Drugs & Compounds
for C10orf2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C10orf2
Search CenterWatch for drugs/clinical trials and news about C10orf2 / PEO1
|
Transcripts
for C10orf2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0011638125 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)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 (see all 4)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C10orf2 (NM_014472) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C10orf2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C10orf2 |
Additional cDNA 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 24/200 AceView cDNA sequences (see all 200): BQ217449 BQ055568 BU838941 F12667 BQ643363 CR626239 AK022959 BM980922 BE743851 AK025485 BM909063 CA450490 AI651203 BM549083 BF724493 BQ643111 BM804286 BC013349 AI863792 BE408075 NM_021830 BQ056467 BM556975 BM800014
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
|
Expression
for C10orf2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| C10orf2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTAGAATT
About this image
See C10orf2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C10orf2
SOURCE GeneReport for Unigene cluster: Hs.22678
UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Tissue specificity: High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in theheart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes.Expression is coregulated with MRPL43
SABiosciences Custom PCR Arrays for C10orf2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C10orf2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C10orf2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C10orf2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C10orf2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C10orf2 |
Orthologs
for C10orf2 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for C10orf2 gene from 7/24 species (see all 24) 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 |
C6H10orf21 |
progressive external ophthalmoplegia 1 |
67.39(n)
69.92(a) |
|
425626 NM_001031344.1 NP_001026515.1 |
lizard
(Anolis carolinensis) |
Reptilia |
C10orf26 |
-- |
75(a) |
1 ↔ 1 |
3(39286517-39292270) |
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
50.23(n)1
41.87(a)1 |
|
30E13
343071 NM_135474.11 NP_609318.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
F46G11.11 , 3 |
Protein F46G11.11 |
33(a)3
47.18(n)1
37.58(a)1 |
|
X(5829305-5832449)3
1808451 NM_076572.31 NP_508973.21 |
ENSEMBL Gene Tree for C10orf2 (if available)
TreeFam Gene Tree for C10orf2 (if available) |
Paralogs
for C10orf2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C10orf2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C10orf2 (102747124 - 102754158 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C10orf2
2 CNVs: 48397 4711
Human Gene Mutation Database (HGMD): C10orf2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C10orf2 |
|
Disorders
/ Diseases
for C10orf2 gene
(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.)
About This Section
|
C10orf2 for disorders About GeneDecksing
OMIM gene information: 606075
OMIM disorders: 609286 271245
UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
Defects in PEO1 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletionsautosomal dominant type 3 (PEOA3) [MIM:609286]. Progressive external ophthalmoplegia is characterized by progressiveweakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated withskeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability andeven permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion ofchronic 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 Defects in PEO1 are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459].SANDO is a clinically heterogeneous systemic disorder with variable features resulting from mitochondrial dysfunction.It shares phenotypic characteristics with autosomal recessive progressive external ophthalmoplegia and mitochondrialneurogastrointestinal encephalopathy syndrome. The clinical triad of symptoms consists of sensory ataxic, neuropathy,dysarthria, and ophthalmoparesis Defects in PEO1 are the cause of mitochondrial DNA depletion syndrome type 7 (MTDPS7) [MIM:271245]; also knownas spinocerebellar ataxia infantile-onset (IOSCA). A severe disease associated with mitochondrial dysfunction. Somepatients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonalneuropath. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit,sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. Some individuals manifest ahepatocerebral phenotype characterized by liver insufficiency, increased serum and CSF lactate, hypotonia, psychomotorretardation and peripheral neuropathy
20/35  diseases for C10orf2 (see all 35): About MalaCardsinfantile onset spinocerebellar ataxia spinocerebellar ataxia ophthalmoplegia progressive external ophthalmoplegia, autosomal dominant, 3
mitochondrial dna depletion syndrome 7 (hepatocerebral type) sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ataxia progressive external ophthalmoplegia with mitochondrial dna deletions
mitochondrial dna depletion syndrome sensory ataxic neuropathy autosomal dominant progressive external ophthalmoplegia autosomal recessive progressive external ophthalmoplegia
chronic progressive external ophthalmoplegia type 1 diabetes mellitus athetosis axonal neuropathy
merrf syndrome multiple system atrophy optic atrophy diabetes mellitus
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 2 Novoseek disease relationships for C10orf2 gene About this table
GeneTests: C10orf2
Infantile-Onset Spinocerebellar Ataxia
Human Genome Epidemiology (HuGE) Navigator: C10orf2 (8 documents)
Export disorders for C10orf2 gene to outside databases
|
Publications
for C10orf2 gene (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)
About This Section
|
PubMed articles for C10orf2 gene, integrated from 9 sources (see all 76):
(articles sorted by number of sources associating them with C10orf2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2005)
- 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. (2001)
- The clinical, histochemical, and molecular spectrum o f PEO1 (Twinkle)-linked adPEO. (PubMed id 20479361)1, 2, 9 Fratter C....Taylor R.W. (2010)
- Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. (PubMed id 18575922)1, 2, 9 Virgilio R....Comi G.P. (2008)
- Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. (PubMed id 17722119)1, 2, 9 Sarzi E....Rotig A. (2007)
- Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmopl egia. (PubMed id 19428252)1, 2, 9 Negro R....Petruzzella V. (2009)
- 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. (2008)
- 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. (2012)
- 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. (2011)
- Novel Twinkle gene mutation in autosomal dominant pro gressive external ophthalmoplegia and multisystem failure. (PubMed id 19853444)1, 2 Bohlega S....Kambouris M. (2009)
|
External Searches for C10orf2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C10orf2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C10orf2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C10orf2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for C10orf2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/C10orf2 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/peo1/ |
|
| | |
About This Section
| 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
|
Products
for C10orf2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C10orf2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C10orf2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C10orf2 | | | OriGene Protein Over-expression Lysate for C10orf2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for C10orf2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C10orf2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for C10orf2 | | OriGene Custom Protein Services for C10orf2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C10orf2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C10orf2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C10orf2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C10orf2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C10orf2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C10orf2 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for C10orf2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | C10orf2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C10orf2 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for C10orf2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C10orf2 |
| |  | |
|
|
|
