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Aliases & Descriptions for C10orf2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ATXN8 1, 2 | | EC 3.6.1.- 3 | | FLJ21832 1, 2 | | IOSCA 2, 5 | | OTTHUMP00000020296 2 | | PEO 1, 2 | | PEO1 1, 2, 5 | | PEOA3 2, 5 | | SANDO 2, 5 | | SCA8 2 | | TWINKLE 1, 5 | | TWINL 1, 2 | | twinkle 2 |
| | | Descriptions |
|---|
| Progressive external ophthalmoplegia 1 protein 3 | T7 gp4-like protein with intramitochondrial nucleoid localization 3 | | T7-like mitochondrial DNA helicase 3 | | ataxin 8 2 | | chromosome 10 open reading frame 2 2 | gp4-like protein with intramitochondrial nucleoid localization 2 | infantile onset spinocerebellar ataxia (autosomal recessive) 1 |
|
| | Search outside databases for aliases for C10orf2 genePrevious GC identifers: GC10P101640 GC10P101981 GC10P102878 |
Summaries for C10orf2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for C10orf2: Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001 [PubMed 11431692]).[supplied by OMIM] UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Function: 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 (By similarity)Gene Wiki entry for C10orf2 (PEO1) |
Genomic Location for C10orf2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q23.3-q24.3 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 gene densities for chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P102738:
(about GC identifiers)
Start:
|
102,737,302 bp from pter |
End:
|
102,744,148 bp from pter |
Size:
|
6,847 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000010.9 NT_030059.12
| Proteins for C10orf2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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 mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression
Secondary accessions: Q6MZX2 Q6PJP5 Q96RR0Alternative splicing: 3 isoforms: Q96RR1-1 Q96RR1-2 Q96RR1-3 REFSEQ proteins: NP_068602.2
ENSEMBL proteins: ENSP00000309595 ENSP00000359248
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: C10orf2 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for C10orf2: Assays for C10orf2: | Protein
Domains/ Families for C10orf2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q96RR1
ProtoNet protein and cluster: Q96RR1 UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Similarity: Contains 1 SF4 helicase domain | Gene Function for C10orf2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021830
Applied Biosystems Silencer® siRNAs for C10orf2
Sigma-Aldrich siRNA for C10orf2  Sigma-Aldrich shRNA Panels and shRNA for C10orf2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_021830                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021830                                  untagged cDNA clones in CMV expression vector (see all 2): AF292004 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021830
UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1Function: 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 (By similarity)Enzyme Number (IUBMB): EC 3.6.1.- 5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for C10orf2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/10 Interacting proteins for C10orf2 (Q96RR12 ENSP000003095953) via UniProtKB, MINT, and/or STRING (see all 10
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for C10orf2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for C10orf2
|
Transcripts for C10orf2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021830
Sigma-Aldrich siRNA for C10orf2  Sigma-Aldrich shRNA Panels and shRNA for C10orf2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_021830 REFSEQ mRNAs for C10orf2 gene: NM_021830.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_021830               OriGene GFP tagged cDNA clone in CMV expression vector: NM_021830                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_021830                                  untagged cDNA clones in CMV expression vector (see all 2): AF292004  Additional cDNA sequence: AF292004.1 AF292005.1 AK022959.1 AK025485.1 AK297068.1 AK308098.1 BC013349.2 BC033762.1 BX640829.1 CR593649.1 CR626239.1 10 DOTS entries: DT.97846893 DT.121293577 DT.210174 DT.95288120 DT.121293557 DT.92454503 DT.95353221 DT.92454510 DT.95070218 DT.100715950 24/200 AceView cDNA sequences (see all 200
):BQ643363 BQ057593 AF292004 BQ924236 BC013349 AW196505 F10278 CB159220 BE277526 AI651203 BM800014 AI863792 BI089876 BQ059754 NM_021830 BQ643111 BM980922 BE743851 BQ058029 BU838941 CA450490 BQ066500 F12667 BF795117 Unigene Cluster for C10orf2: Chromosome 10 open reading frame 2 Hs.22678 [show with all ESTs]Unigene Representative Sequence: BX640829
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for C10orf2
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | |
| SP1: | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |
| SP4: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for C10orf2
2 Ensembl transcripts including schematic representations: ENST00000311916
ENST00000370228
|
Expression for C10orf2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| C10orf2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for C10orf2
1 / 2 3 probe-sets matching C10orf2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TACTAGAATT
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 the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43 |
Orthologs for C10orf2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for C10orf2 gene from 5/12 species (see all 12
)
About this table Species with no ortholog for C10orf2
ENSEMBL Gene Tree for C10orf2 | Paralogs for C10orf2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for C10orf2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for C10orf2 (up to first 250kb)
|
Disorders & Mutations for C10orf2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606075 disorders: 609286 607459 251880 271245 UniProtKB/Swiss-Prot: PEO1_HUMAN, Q96RR1
Defects in PEO1 are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]. Progressive external ophthalmoplegia is 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 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 mitochondrial neurogastrointestinal encephalopathy syndrome. The clinical triad of symptoms consists of sensory ataxic, neuropathy, dysarthria, and ophthalmoparesis Defects in PEO1 are a cause of hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive (ARHCMDS) [MIM:251880]. Clinical features include liver dysfunction, peripheral neuropathy, severe trunk hypotonia, psychomotor retardation Defects in PEO1 are the cause of spinocerebellar ataxia infantile-onset (IOSCA) [MIM:271245]. IOSCA is a severe neurodegenerative disorder due to progressive atrophy of the cerebellum, brain stem and spinal cord, and sensory axonal neuropathy. It is an autosomal recessive cerebellar ataxia (ARCA) characterized by very early onset ataxia (between 1 and 2 years), athetosis and reduced tendon reflexes. Other features such as ophthalmoplegia, hearing loss and sensory neuropathy with progressive loss of myelinated fibers in sural nerves appear later in the disease course. Some patients show reduced mental capacity2 Novoseek disease relationships for C10orf2 gene
About this table
GeneTests: C10orf2 Infantile-Onset Spinocerebellar Ataxia Human Gene Mutation Database: C10orf2 Human Genome Epidemiology Navigator: C10orf2 (5 documents)
|
Medical News for C10orf2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for C10orf2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/52 PubMed articles for C10orf2 gene (see all 52
):- Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. (PubMed id 16135556)1, 2, 3, 4 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)2, 3, 4 Spelbrink J.N.... Larsson C. (2001)
- Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. (PubMed id 17722119)1, 3, 4 Sarzi E....Rotig A. (2007)
- Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. (PubMed id 15668446)3, 4 Hudson G.... Chinnery P.F. (2005)
- Reconstitution of a minimal mtDNA replisome in vitro. (PubMed id 15167897)3, 4 Korhonen J.A.... Falkenberg M. (2004)
- Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. (PubMed id 15509589)3, 4 Tyynismaa H.... Suomalainen A. (2004)
- Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. (PubMed id 15181170)3, 4 Wanrooij S.... Spelbrink J.N. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)3, 4 Deloukas P.... Rogers J. (2004)
- Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. (PubMed id 12872260)3, 4 Van Goethem G....Van Broeckhoven C. (2003)
- A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. (PubMed id 12921794)3, 4 Deschauer M....Taylor R.W. (2003)
|
Search for C10orf2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing C10orf2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing C10orf2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C10orf2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=C10orf2 |
|
| | | About This Section
| --
| Services for C10orf2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
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Incremental update: 13 Oct 2009
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