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Tbio Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial

May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

 Comments

Property Summary

NCBI Gene PubMed Count 18
PubMed Score 43.71
PubTator Score 33.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
Disease Target Count Z-score Confidence
Frontotemporal dementia 47 4.669 2.3
Mitochondrial myopathy 24 3.243 1.6

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis -1.400 1.5e-02
astrocytic glioma -1.500 2.9e-03
ependymoma -1.800 3.0e-02
glioblastoma -1.200 4.4e-06
group 3 medulloblastoma -1.900 5.4e-05
cystic fibrosis -1.472 9.6e-06
atypical teratoid/rhabdoid tumor -1.600 1.6e-04
pancreatic ductal adenocarcinoma liver m... -2.083 1.8e-03
interstitial cystitis -1.200 1.3e-04
adult high grade glioma -1.300 8.1e-04
ovarian cancer 2.100 7.9e-06

Synonym

Accession Q8WYQ3 A8K0J5
Symbols IMMD
SMAJ
FTDALS2
N27C7-4
C22orf16

Gene

CHCHD10

  Ortholog (1)

Species Source Disease
Mouse OMA EggNOG Inparanoid

 UniProt Keyword (8)

 GO Component (3)

 GO Process (4)

 Compartment GO Term (27)

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 HCA RNA Cell Line (56)

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Pathway (3)

Protein-protein Interaction (33)

CHCHD4   TOMM6   RBM26   RBM27   ZFP91   THRAP3   ATP8B2   ZNF579   LUC7L   C1QBP   RBM23   DHX8   RRP12   U2AF2   LSM14B   CLPX   PRRC2C   BAG1   PRRC2A   CMAS   BNC2   KLF13   CHTOP   CARNMT1   CACTIN   SREK1   PHF10   FIZ1   FAF1   ZNF593   ZNF444   CHCHD2P9   TRPM3  

Gene RIF (13)

PMID Text
26666268 Disassembly of the mitochondrial contact site and cristae organizing system complex secondary to CHCHD10 mutations leads to mitochondrial dysfunction including inhibition of apoptosis.
26362910 CHCHD10 was found to not be a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
26344877 CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
25726362 CHCHD10 mutations account for approximately 1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.
25428574 The results of this study support this estimation, and suggest that the real prevalence of CHCHD10-related disease in Finland is probably much higher.
25193783 findings identify a novel gene causing mitochondrial myopathy, thereby expanding the spectrum of mitochondrial myopathies caused by nuclear genes. Our findings also suggest a role for CHCHD10 in the morphologic remodeling of the mitochondria.
25155093 CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions.
24934289 Mitochondrial disease (CHCHD10 mutation) may be at the origins of some frontotemporal dementia and amyotrophic lateral sclerosis phenotypes.
20888800 CHCHD10 and GBAS are involved in oxidative phosphorylation; CHCHD10 plays role in complex IV activity.
20888800 Functional annotation of CHCHD10 as mitochondrial protein with function related to cytochrome-c-oxidase (complex IV) activity.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MPRGSRSAASRPASRPAAPSAHPPAHPPPSAAAPAPAPSGQPGLMAQMATTAAGVAVGSAVGHVMGSALT      1 - 70
GAFSGGSSEPSQPAVQQAPTPAAPQPLQMGPCAYEIRQFLDCSTTQSDLSLCEGFSEALKQCKYYHGLSS     71 - 140
LP                                                                        141 - 142
//

Text Mined References (17)

PMID Year Title
26666268 2016 CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
26362910 2016 CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
26344877 2015 The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
25726362 2015 CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.
25428574 2015 Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
25193783 2015 Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.
25155093 2014 Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
24934289 2014 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
22017425 2012 High CpG island methylator phenotype is associated with lymph node metastasis and prognosis in gastric cancer.
20888800 2010 Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.