Homo sapiens Gene: C10orf2
Summary
InnateDB Gene IDBG-86825.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C10orf2
Gene Name chromosome 10 open reading frame 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000107815
Encoded Proteins
chromosome 10 open reading frame 2
chromosome 10 open reading frame 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:100987367-100994401
Strand Forward strand
Band q24.31
Transcripts
ENST00000311916 ENSP00000309595
ENST00000370228 ENSP00000359248
ENST00000476766
ENST00000473656
ENST00000459764
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0003678 DNA helicase activity
GO:0003697 single-stranded DNA binding
GO:0005524 ATP binding
GO:0043139 5'-3' DNA helicase activity
Biological Process
GO:0006260 DNA replication
GO:0006264 mitochondrial DNA replication
GO:0006268 DNA unwinding involved in DNA replication
GO:0006390 transcription from mitochondrial promoter
GO:0008219 cell death
GO:0034214 protein hexamerization
GO:0051260 protein homooligomerization
Cellular Component
GO:0005739 mitochondrion
GO:0042645 mitochondrial nucleoid
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Organelle biogenesis and maintenance pathway
Mitochondrial biogenesis pathway
Transcriptional activation of mitochondrial biogenesis pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.22678
RefSeq NM_001163812 NM_001163813 NM_001163814 NM_021830
HUGO
OMIM
CCDS CCDS53570 CCDS7506
HPRD 05830
IMGT
EMBL
GenPept
RNA Seq Atlas