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Aliases for CHCHD10 Gene

Aliases for CHCHD10 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10 2 3
  • C22orf16 3 4
  • Chromosome 22 Open Reading Frame 16 2
  • Protein N27C7-4 4
  • FTDALS2 3
  • N27C7-4 3
  • IMMD 3
  • SMAJ 3

External Ids for CHCHD10 Gene

Previous HGNC Symbols for CHCHD10 Gene

  • C22orf16

Previous GeneCards Identifiers for CHCHD10 Gene

  • GC22M022438
  • GC22M024109
  • GC22M007096

Summaries for CHCHD10 Gene

Entrez Gene Summary for CHCHD10 Gene

  • 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]

GeneCards Summary for CHCHD10 Gene

CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10) is a Protein Coding gene. Diseases associated with CHCHD10 include frontotemporal dementia and/or amyotrophic lateral sclerosis 2 and myopathy, isolated mitochondrial, autosomal dominant. An important paralog of this gene is CHCHD2.

UniProtKB/Swiss-Prot for CHCHD10 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD10 Gene

Genomics for CHCHD10 Gene

Regulatory Elements for CHCHD10 Gene

Genomic Location for CHCHD10 Gene

Chromosome:
22
Start:
23,765,834 bp from pter
End:
23,768,443 bp from pter
Size:
2,610 bases
Orientation:
Minus strand

Genomic View for CHCHD10 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHCHD10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD10 Gene

Proteins for CHCHD10 Gene

  • Protein details for CHCHD10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYQ3-CHC10_HUMAN
    Recommended name:
    Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
    Protein Accession:
    Q8WYQ3
    Secondary Accessions:
    • A8K0J5

    Protein attributes for CHCHD10 Gene

    Size:
    142 amino acids
    Molecular mass:
    14149 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CHCHD10 Gene

Proteomics data for CHCHD10 Gene at MOPED

Post-translational modifications for CHCHD10 Gene

No Post-translational modifications

Other Protein References for CHCHD10 Gene

No data available for DME Specific Peptides for CHCHD10 Gene

Domains & Families for CHCHD10 Gene

Protein Domains for CHCHD10 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYQ3

UniProtKB/Swiss-Prot:

CHC10_HUMAN :
  • Contains 1 CHCH domain.
Domain:
  • Contains 1 CHCH domain.
genes like me logo Genes that share domains with CHCHD10: view

Function for CHCHD10 Gene

Molecular function for CHCHD10 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.

Gene Ontology (GO) - Molecular Function for CHCHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CHCHD10: view
genes like me logo Genes that share phenotypes with CHCHD10: view

Animal Model Products

CRISPR Products

miRNA for CHCHD10 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHCHD10

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CHCHD10 Gene

Localization for CHCHD10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD10 Gene

Mitochondrion intermembrane space. Note=Enriched at the cristae junctions. {ECO:0000269 PubMed:24934289}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD10 Gene COMPARTMENTS Subcellular localization image for CHCHD10 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for CHCHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20888800
GO:0005758 mitochondrial intermembrane space IDA 24934289
genes like me logo Genes that share ontologies with CHCHD10: view

Pathways & Interactions for CHCHD10 Gene

SuperPathways for CHCHD10 Gene

No Data Available

Interacting Proteins for CHCHD10 Gene

Gene Ontology (GO) - Biological Process for CHCHD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0006754 ATP biosynthetic process IMP 20888800
GO:0007005 mitochondrion organization IMP 24934289
GO:2000984 negative regulation of ATP citrate synthase activity IMP 20888800
genes like me logo Genes that share ontologies with CHCHD10: view

No data available for Pathways by source and SIGNOR curated interactions for CHCHD10 Gene

Drugs & Compounds for CHCHD10 Gene

No Compound Related Data Available

Transcripts for CHCHD10 Gene

Unigene Clusters for CHCHD10 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 10:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHCHD10

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD10 Gene

No ASD Table

Relevant External Links for CHCHD10 Gene

GeneLoc Exon Structure for
CHCHD10
ECgene alternative splicing isoforms for
CHCHD10

Expression for CHCHD10 Gene

mRNA expression in normal human tissues for CHCHD10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHCHD10 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.9), Muscle - Skeletal (x5.2), and Heart - Atrial Appendage (x4.8).

Protein differential expression in normal tissues from HIPED for CHCHD10 Gene

This gene is overexpressed in Fetal heart (32.0), Heart (20.8), and Monocytes (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CHCHD10 Gene



SOURCE GeneReport for Unigene cluster for CHCHD10 Gene Hs.66915

mRNA Expression by UniProt/SwissProt for CHCHD10 Gene

Q8WYQ3-CHC10_HUMAN
Tissue specificity: Ubiquitously expressed. Higher expression is observed in heart and liver.
genes like me logo Genes that share expression patterns with CHCHD10: view

Protein tissue co-expression partners for CHCHD10 Gene

Primer Products

In Situ Assay Products

Orthologs for CHCHD10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHCHD10 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHCHD10 35
  • 87.79 (n)
  • 91.55 (a)
CHCHD10 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD10 35
  • 92.23 (n)
  • 92.23 (a)
CHCHD10 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd10 35
  • 85.02 (n)
  • 86.23 (a)
Chchd10 16
Chchd10 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD10 35
  • 99.68 (n)
  • 99.03 (a)
rat
(Rattus norvegicus)
Mammalia Chchd10 35
  • 84.06 (n)
  • 88.41 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD10 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC416933 35
  • 74.31 (n)
  • 75 (a)
CHCHD10 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHCHD10 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd10 35
  • 66.19 (n)
  • 69.5 (a)
zebrafish
(Danio rerio)
Actinopterygii chchd10 35
  • 68.37 (n)
  • 76.53 (a)
chchd10 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31007 36
  • 31 (a)
ManyToMany
CG31008 36
  • 32 (a)
ManyToMany
CG5010 36
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea har-1 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIC17 36
  • 28 (a)
OneToMany
Species with no ortholog for CHCHD10:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHCHD10 Gene

ENSEMBL:
Gene Tree for CHCHD10 (if available)
TreeFam:
Gene Tree for CHCHD10 (if available)

Paralogs for CHCHD10 Gene

Paralogs for CHCHD10 Gene

(2) SIMAP similar genes for CHCHD10 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CHCHD10 Gene

genes like me logo Genes that share paralogs with CHCHD10: view

Variants for CHCHD10 Gene

Sequence variations from dbSNP and Humsavar for CHCHD10 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs6003876 -- 23,766,616(+) cccaa(C/G)aaatt intron-variant
rs587777574 Pathogenic 23,767,459(+) CAGCC(A/G)AGCCC reference, missense, nc-transcript-variant, intron-variant
rs730880030 untested 23,767,591(-) CAGCC(G/T)CCCAG reference, missense, intron-variant
rs730880031 Pathogenic 23,767,438(-) CATGG(G/T)CAGCG reference, missense, nc-transcript-variant, intron-variant
rs730880032 Pathogenic 23,767,592(-) GCAGC(A/C)GCCCA missense, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD10 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
dgv4906n71 CNV Gain 21882294
nsv914597 CNV Loss 21882294

Variation tolerance for CHCHD10 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD10 Gene

HapMap Linkage Disequilibrium report
CHCHD10
Human Gene Mutation Database (HGMD)
CHCHD10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD10 Gene

Disorders for CHCHD10 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CHCHD10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

CHC10_HUMAN
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) [MIM:615911]: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. {ECO:0000269 PubMed:24934289, ECO:0000269 PubMed:25155093}. Note=The disease is caused by mutations affecting the gene represented in this entry. The pathological events leading to disease involve fragmentation of the mitochondrial network, mitochondrial ultrastructural abnormalities including loss, disorganization and dilatation of cristae, and mitochondrial dysfunction associated with respiratory chain deficiency (PubMed:24934289). {ECO:0000269 PubMed:24934289}.
  • Myopathy, isolated mitochondrial, autosomal dominant (IMMD) [MIM:616209]: A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. {ECO:0000269 PubMed:25193783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy, Jokela type (SMAJ) [MIM:615048]: An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. {ECO:0000269 PubMed:25428574}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHCHD10

Genetic Association Database (GAD)
CHCHD10
Human Genome Epidemiology (HuGE) Navigator
CHCHD10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD10
genes like me logo Genes that share disorders with CHCHD10: view

No data available for Genatlas for CHCHD10 Gene

Publications for CHCHD10 Gene

  1. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. (PMID: 24934289) Bannwarth S. … Paquis-Flucklinger V. (Brain 2014) 2 67
  2. Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. (PMID: 25428574) PenttilAo S. … Udd B. (Ann. Neurol. 2015) 67
  3. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. (PMID: 25193783) Ajroud-Driss S. … Siddique T. (Neurogenetics 2015) 67
  4. Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. (PMID: 25155093) Chaussenot A. … Paquis-Flucklinger V. (Neurobiol. Aging 2014) 67
  5. High CpG island methylator phenotype is associated with lymph node metastasis and prognosis in gastric cancer. (PMID: 22017425) Chen H.Y. … He Y.L. (Cancer Sci. 2012) 67

Products for CHCHD10 Gene

Sources for CHCHD10 Gene

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