CHCHD10

Protein identityUniProt · HPA

UniProt accession

Q8WYQ3

Gene

CHCHD10

Ensembl

ENSG00000250479

Chromosome

22

Canonical length

142 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

142 residues, UniProt reviewed canonical sequence.

>Q8WYQ3|CHCHD10
     1  MPRGSRSAAS RPASRPAAPS AHPPAHPPPS AAAPAPAPSG QPGLMAQMAT TAAGVAVGSA
    61  VGHVMGSALT GAFSGGSSEP SQPAVQQAPT PAAPQPLQMG PCAYEIRQFL DCSTTQSDLS
   121  LCEGFSEALK QCKYYHGLSS LP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CHCHD10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.64

Highest tissue expression

1,596 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CHCHD10.

Disease | AllUniProt

Conditions CHCHD10 is implicated in, by any mechanism.

• Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) MIM:615911
• Spinal muscular atrophy, Jokela type (SMAJ) MIM:615048
• Myopathy, isolated mitochondrial, autosomal dominant (IMMD) MIM:616209

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 281 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant mitochondrial myopathy with exercise intolerance
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
• Lower motor neuron syndrome with late-adult onset

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.91

gnomAD pLI

0

gnomAD missense Z

0.82

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• inner mitochondrial membrane organization
• mitochondrial membrane organization
• mitochondrion organization

Cellular components

• MICOS complex
• mitochondrial intermembrane space
• mitochondrion
• nucleus

Protein domainsUniProt · Pfam · InterPro

• CHCH
• Coiled-coil-helix-coiled-coil-helix domain-containing protein 2/10-like
• CHCH domain

KeywordsUniProt

• Amyotrophic lateral sclerosis
• Disulfide bond
• Mitochondrion
• Neurodegeneration
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of CHCHD10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CHCHD2