• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


C10orf2 chromosome 10 open reading frame 2 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22794 NM_001163814 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu26432 NM_001163813 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 3, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu26782 NM_021830 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu26964 NM_001163812 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu44437 XM_006717921 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu44438 XM_006717922 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu22794C NM_001163814 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 4, mRNA. Customized vector On-demand 7-9 $209.00
OHu26432C NM_001163813 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 3, mRNA. Customized vector In-stock 5-7 $149.00
OHu26782C NM_021830 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA. Customized vector On-demand 12-14 $329.00
OHu26964C NM_001163812 Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu44437C XM_006717921 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X2, mRNA. Customized vector On-demand 7-9 $209.00
OHu44438C XM_006717922 PREDICTED: Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant X3, mRNA. Customized vector On-demand 7-9 $209.00

*Business Day

Related Services

Gene Symbol C10orf2
Entrez Gene ID 56652
Full Name chromosome 10 open reading frame 2
Synonyms ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
General protein information
Preferred Names
twinkle protein, mitochondrial
Names
twinkle protein, mitochondrial
ataxin 8
mitochondrial twinkle protein
T7-like mitochondrial DNA helicase
progressive external ophthalmoplegia 1 protein
T7 gp4-like protein with intramitochondrial nucleoid localization
T7 helicase-related protein with intramitochondrial nucleoid localization
NP_001157284.1
NP_001157285.1
NP_001157286.1
NP_068602.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q24

Summary 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].
Disorder

MIM: 606075

Progressive external ophthalmoplegia, autosomal dominant, 3, 609286

mRNA Protein Product Sequence Price Select
NM_001163812, 255304945 NP_001157284, 255304946 twinkle protein, mitochondrial isoform B ORF Sequence $700.00
NM_001163813, 255304947 NP_001157285, 255304948 twinkle protein, mitochondrial isoform C ORF Sequence $159.00
NM_001163814, 255304959 NP_001157286, 255304960 twinkle protein, mitochondrial isoform D ORF Sequence $150.00
NM_021830, 255304944 NP_068602, 39725942 twinkle protein, mitochondrial isoform A ORF Sequence $700.00
XM_006717921, 578819641 XP_006717984, 578819642 twinkle protein, mitochondrial isoform X2 ORF Sequence $300.00
XM_006717922, 578819643 XP_006717985, 578819644 twinkle protein, mitochondrial isoform X3 ORF Sequence $300.00
Reactome
REACT_200751Organelle biogenesis and maintenance
REACT_200608Transcriptional activation of mitochondrial biogenesis
REACT_200788Mitochondrial biogenesis
Homo sapiens (human)C10orf2NP_068602.2
Pan troglodytes (chimpanzee)C10H10orf2XP_003951780.1
Macaca mulatta (Rhesus monkey)C9H10orf2XP_001109287.1
Canis lupus familiaris (dog)C28H10orf2XP_543974.1
Bos taurus (cattle)C26H10orf2NP_001091933.1
Mus musculus (house mouse)Peo1NP_722491.2
Rattus norvegicus (Norway rat)Peo1NP_001101069.1
Gallus gallus (chicken)PEO1NP_001026515.1
Danio rerio (zebrafish)peo1NP_001264527.1
Drosophila melanogaster (fruit fly)CG5924NP_609318.1
Caenorhabditis elegansF46G11.1NP_508973.3
Xenopus (Silurana) tropicalis (western clawed frog)LOC100491229XP_002938766.1
Process
IDNameEvidence
GO:0006264mitochondrial DNA replicationIMP
GO:0006264mitochondrial DNA replicationNAS
GO:0006268DNA unwinding involved in DNA replicationIEA
GO:0006390transcription from mitochondrial promoterIMP
GO:0008219cell deathIEA
GO:0034214protein hexamerizationIDA
GO:0051260protein homooligomerizationIDA
Component
IDNameEvidence
GO:0042645mitochondrial nucleoidIDA
Function
IDNameEvidence
GO:0002020protease bindingIPI
GO:0003697single-stranded DNA bindingIDA
GO:0005524ATP bindingIEA
GO:00431395'-3' DNA helicase activityIDA
GeneCards C10orf2
UniProt E5KSY5, Q96RR1, Q9H6V3
Vega OTTHUMG00000018917
MIM 606075
Ensembl ENSG00000107815
HGNC 1160
HPRD 05830

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.