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C10orf2

GENERAL INFORMATION

Gene name

 C10orf2

Gene description

 Chromosome 10 open reading frame 2

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in pancreatic islets, neuronal cells, smooth muscle cells and squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA002532
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 C10orf2 (HGNC Symbol)

Synonyms

 FLJ21832, IOSCA, PEO, PEO1, TWINKLE, TWINL

Description

 Chromosome 10 open reading frame 2 (HGNC Symbol)

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]

Chromosome

 10

Cytoband

 q24.31

Chromosome location (bp)

 100987367 - 100994401

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000107815 (version 83.38)

Entrez gene

 56652

UniProt

 Q96RR1 (UniProt - Evidence at protein level)

neXtProt

 NX_Q96RR1

Antibodypedia

 C10orf2 antibodies

PROTEIN BROWSER
C10orf2-001
C10orf2-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
C10orf2-001
ENSP00000309595
ENST00000311916
Q96RR1 [Direct mapping]
Twinkle protein, mitochondrial
E5KSY5 [Target identity:100%; Query identity:100%]
Mitochondrial twinkle protein
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002020 [protease binding]
GO:0003678 [DNA helicase activity]
GO:0003697 [single-stranded DNA binding]
GO:0005524 [ATP binding]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006260 [DNA replication]
GO:0006264 [mitochondrial DNA replication]
GO:0006268 [DNA unwinding involved in DNA replication]
GO:0006390 [transcription from mitochondrial promoter]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0034214 [protein hexamerization]
GO:0042645 [mitochondrial nucleoid]
GO:0043139 [5'-3' DNA helicase activity]
GO:0051260 [protein homooligomerization]
GO:0071333 [cellular response to glucose stimulus]
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 684 aa
77.2 kDa 		No 0
C10orf2-002
ENSP00000359248
ENST00000370228
Q96RR1 [Direct mapping]
Twinkle protein, mitochondrial
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Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002020 [protease binding]
GO:0003678 [DNA helicase activity]
GO:0003697 [single-stranded DNA binding]
GO:0005524 [ATP binding]
GO:0005759 [mitochondrial matrix]
GO:0006260 [DNA replication]
GO:0006264 [mitochondrial DNA replication]
GO:0006390 [transcription from mitochondrial promoter]
GO:0006996 [organelle organization]
GO:0007005 [mitochondrion organization]
GO:0034214 [protein hexamerization]
GO:0042645 [mitochondrial nucleoid]
GO:0043139 [5'-3' DNA helicase activity]
GO:0051260 [protein homooligomerization]
Show all
 582 aa
66 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.