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C10orf2 (chromosome 10 open reading frame 2)

Identity

Other namesATXN8
IOSCA
MTDPS7
PEO
PEO1
PEOA3
SANDO
SCA8
TWINL
HGNC (Hugo) C10orf2
LocusID (NCBI) 56652
Location 10q24.31
Location_base_pair Starts at 102747293 and ends at 102754158 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)C10orf2   1160
Cards
Entrez_Gene (NCBI)C10orf2  56652  chromosome 10 open reading frame 2
GeneCards (Weizmann)C10orf2
Ensembl (Hinxton)ENSG00000107815 [Gene_View]  chr10:102747293-102754158 [Contig_View]  C10orf2 [Vega]
AceView (NCBI)C10orf2
Genatlas (Paris)C10orf2
WikiGenes56652
SOURCE (Princeton)NM_001163812 NM_001163813 NM_001163814 NM_021830
Genomic and cartography
GoldenPath (UCSC)C10orf2  -  10q24.31   chr10:102747293-102754158 +  10q24.31   [Description]    (hg19-Feb_2009)
EnsemblC10orf2 - 10q24.31 [CytoView]
Mapping of homologs : NCBIC10orf2 [Mapview]
OMIM251880   271245   606075   607459   609286   
Gene and transcription
Genbank (Entrez)AF292004 AF292005 AK022959 AK025485 AK297068
RefSeq transcript (Entrez)NM_001163812 NM_001163813 NM_001163814 NM_021830
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_012624 NT_030059 NW_001838006 NW_004929376
Consensus coding sequences : CCDS (NCBI)C10orf2
Cluster EST : UnigeneHs.22678 [ NCBI ]
CGAP (NCI)Hs.22678
Alternative Splicing : Fast-db (Paris)GSHG0003625
Alternative Splicing GalleryENSG00000107815
Gene ExpressionC10orf2 [ NCBI-GEO ]     C10orf2 [ SEEK ]   C10orf2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RR1 (Uniprot)
NextProtQ96RR1  [Medical]
With graphics : InterProQ96RR1
Splice isoforms : SwissVarQ96RR1 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)SF4_HELICASE (PS51199)   
Domains : Interpro (EBI)DNA_helicase_DnaB-like_C    P-loop_NTPase    Twinkle   
Related proteins : CluSTrQ96RR1
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations56652
Blocks (Seattle)Q96RR1
Human Protein AtlasENSG00000107815
Peptide AtlasQ96RR1
HPRD05830
IPIIPI00102660   IPI00640641   IPI00654621   IPI00943680   IPI00943723   
Protein Interaction databases
DIP (DOE-UCLA)Q96RR1
IntAct (EBI)Q96RR1
FunCoupENSG00000107815
BioGRIDC10orf2
InParanoidQ96RR1
Interologous Interaction database Q96RR1
IntegromeDBC10orf2
STRING (EMBL)C10orf2
Ontologies - Pathways
Ontology : AmiGOprotease binding  single-stranded DNA binding  ATP binding  mitochondrial DNA replication  mitochondrial DNA replication  DNA unwinding involved in DNA replication  transcription from mitochondrial promoter  cell death  protein hexamerization  mitochondrial nucleoid  5'-3' DNA helicase activity  protein homooligomerization  
Ontology : EGO-EBIprotease binding  single-stranded DNA binding  ATP binding  mitochondrial DNA replication  mitochondrial DNA replication  DNA unwinding involved in DNA replication  transcription from mitochondrial promoter  cell death  protein hexamerization  mitochondrial nucleoid  5'-3' DNA helicase activity  protein homooligomerization  
REACTOMEC10orf2
Protein Interaction DatabaseC10orf2
Wikipedia pathwaysC10orf2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)C10orf2
SNP (GeneSNP Utah)C10orf2
SNP : HGBaseC10orf2
Genetic variants : HAPMAPC10orf2
1000_GenomesC10orf2 
ICGC programENSG00000107815 
Somatic Mutations in Cancer : COSMICC10orf2 
CONAN: Copy Number AnalysisC10orf2 
Mutations and Diseases : HGMDC10orf2
OMIM251880    271245    606075    607459    609286   
GENETestsC10orf2
Disease Genetic AssociationC10orf2
Huge Navigator C10orf2 [HugePedia]  C10orf2 [HugeCancerGEM]
Genomic VariantsC10orf2  C10orf2 [DGVbeta]
Exome VariantC10orf2
dbVarC10orf2
ClinVarC10orf2
snp3D : Map Gene to Disease56652
General knowledge
Homologs : HomoloGeneC10orf2
Homology/Alignments : Family Browser (UCSC)C10orf2
Phylogenetic Trees/Animal Genes : TreeFamC10orf2
Chemical/Protein Interactions : CTD56652
Chemical/Pharm GKB GenePA162377675
Clinical trialC10orf2
Cancer Resource (Charite)ENSG00000107815
Other databases
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
CoreMineC10orf2
iHOPC10orf2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:12:35 CEST 2014

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