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

Gene ID: 56652, updated on 11-Sep-2014
Official Symbol
C10orf2provided by HGNC
Official Full Name
chromosome 10 open reading frame 2provided by HGNC
Primary source
HGNC:HGNC:1160
Locus tag
RP11-108L7.2
See related
Ensembl:ENSG00000107815; HPRD:05830; MIM:606075; Vega:OTTHUMG00000018917
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7
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]
See C10orf2 in Epigenomics, MapViewer
Location:
10q24
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (100987536..100994402)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102747293..102754159)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Neighboring gene microRNA 608 Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene leucine zipper, putative tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene sideroflexin 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA unwinding involved in DNA replication IEA
Inferred from Electronic Annotation
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
transcription from mitochondrial promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012624.1 

    Range
    5001..11866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163812.1NP_001157284.1  twinkle protein, mitochondrial isoform B

    See proteins identical to NP_001157284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which introduces a novel stop codon, compared to variant 1. The encoded protein (isoform B; also known as Twinky) has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
    Source sequence(s)
    AF292005, AK025485, BC013349, CB112401, DB090322
    Consensus CDS
    CCDS53570.1
    UniProtKB/Swiss-Prot
    Q96RR1
    UniProtKB/TrEMBL
    Q9H6V3
    Related
    ENSP00000359248, OTTHUMP00000020297, ENST00000370228, OTTHUMT00000049887
    Conserved Domains (2) summary
    cd01029
    Location:259335
    TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...
    cl17233
    Location:374580
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
  2. NM_001163813.1NP_001157285.1  twinkle protein, mitochondrial isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in exon 1 that results in the use of an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform C) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, compared to isoform A.
    Source sequence(s)
    AK025485, BQ643363, CB112401
    UniProtKB/TrEMBL
    Q9H6V3
    Conserved Domains (1) summary
    cl17233
    Location:1178
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
  3. NM_001163814.1NP_001157286.1  twinkle protein, mitochondrial isoform D

    See proteins identical to NP_001157286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple splice site differences, compared to variant 1. The encoded protein (isoform D) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, and has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
    Source sequence(s)
    AK025485, AL133215, CB112401
    UniProtKB/TrEMBL
    Q9H6V3
    Conserved Domains (1) summary
    cl17233
    Location:1126
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
  4. NM_021830.4NP_068602.2  twinkle protein, mitochondrial isoform A

    See proteins identical to NP_068602.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (A; also known as Twinkle).
    Source sequence(s)
    AF292004, AK025485, CB112401, DB090322
    Consensus CDS
    CCDS7506.1
    UniProtKB/TrEMBL
    E5KSY5
    UniProtKB/Swiss-Prot
    Q96RR1
    UniProtKB/TrEMBL
    Q9H6V3
    Related
    ENSP00000309595, OTTHUMP00000020296, ENST00000311916, OTTHUMT00000049886
    Conserved Domains (2) summary
    cd01029
    Location:259335
    TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...
    cd01122
    Location:374632
    GP4d_helicase; GP4d_helicase is a homohexameric 5'-3' helicases. Helicases couple NTP hydrolysis to the unwinding of nucleic acid duplexes into their component strands.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    100987536..100994402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717921.1XP_006717984.1  

    Conserved Domains (1) summary
    cd01122
    Location:8225
    GP4d_helicase; GP4d_helicase is a homohexameric 5'-3' helicases. Helicases couple NTP hydrolysis to the unwinding of nucleic acid duplexes into their component strands.
  2. XM_006717922.1XP_006717985.1  

    Conserved Domains (1) summary
    cl17233
    Location:18216
    RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...

RNA

  1. XR_246100.2 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    96376620..96383636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    103031503..103038362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)