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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
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 10, Mitochondrial 3
  • 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 Symbols for CHCHD10 Gene

  • C22orf16

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 myopathy, isolated mitochondrial, autosomal dominant and lower motor neuron syndrome with late-adult onset. 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

Genomic Location for CHCHD10 Gene

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

Regulatory Elements 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 for CHCHD10 Gene

Gene Families for CHCHD10 Gene

HGNC:
  • CHCHD :Coiled-coil-helix-coiled-coil-helix domain containing

Protein Domains for CHCHD10 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

CHC10_HUMAN
Domain:
  • Contains 1 CHCH domain.:
    • Q8WYQ3
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

miRNA for CHCHD10 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

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 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 for CHCHD10 Gene

Transcripts for CHCHD10 Gene

Unigene Clusters for CHCHD10 Gene

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

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 (6.9), Muscle - Skeletal (5.2), and Heart - Atrial Appendage (4.8).

Integrated Proteomics: protein expression 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 expressions with CHCHD10: view

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
chimpanzee
(Pan troglodytes)
Mammalia CHCHD10 36
  • 99.68 (n)
  • 99.03 (a)
cow
(Bos Taurus)
Mammalia CHCHD10 36
  • 87.79 (n)
  • 91.55 (a)
CHCHD10 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD10 36
  • 92.23 (n)
  • 92.23 (a)
CHCHD10 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd10 36
  • 85.02 (n)
  • 86.23 (a)
Chchd10 16
Chchd10 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD10 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd10 36
  • 84.06 (n)
  • 88.41 (a)
chicken
(Gallus gallus)
Aves CHCHD10 37
  • 59 (a)
OneToOne
LOC416933 36
  • 74.31 (n)
  • 75 (a)
lizard
(Anolis carolinensis)
Reptilia CHCHD10 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd10 36
  • 66.19 (n)
  • 69.5 (a)
zebrafish
(Danio rerio)
Actinopterygii chchd10 36
  • 68.37 (n)
  • 76.53 (a)
chchd10 37
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31007 37
  • 31 (a)
ManyToMany
CG31008 37
  • 32 (a)
ManyToMany
CG5010 37
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea har-1 37
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIC17 37
  • 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

Selected 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
rs131440 -- 23,766,470(+) CTGCC(-/T)TTTTT intron-variant
rs131441 -- 23,766,569(+) TGCCT(C/T)GGCCT intron-variant
rs131442 -- 23,766,790(+) GCAGG(A/G)GAGGG intron-variant
rs131443 -- 23,767,275(+) AGCAA(C/T)GGTGA intron-variant
rs131444 -- 23,767,363(+) TGGAC(C/T)CGCTG 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

Relevant External Links for CHCHD10 Gene

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

Disorders for CHCHD10 Gene

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}.

Relevant External Links for CHCHD10

Genetic Association Database (GAD)
CHCHD10
Human Genome Epidemiology (HuGE) Navigator
CHCHD10
genes like me logo Genes that share disorders with CHCHD10: view

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 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. (PMID: 20888800) Martherus R.S. … Ayoubi T.A. (Biochem. Biophys. Res. Commun. 2010) 3

Products for CHCHD10 Gene

Sources for CHCHD10 Gene

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