Identity
HGNC
LOCATION
22q11.23
LOCUSID
ALIAS
C22orf16,FTDALS2,IMMD,MIX17A,N27C7-4,SMAJ
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 400916
MIM: 615903
HGNC: 15559
Ensembl: ENSG00000250479
Variants:
dbSNP: 400916
ClinVar: 400916
TCGA: ENSG00000250479
COSMIC: CHCHD10
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000250479 | ENST00000401675 | B5MBW9 |
| ENSG00000250479 | ENST00000484558 | Q8WYQ3 |
| ENSG00000250479 | ENST00000517886 | E5RGN4 |
| ENSG00000250479 | ENST00000520222 | E5RH03 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38211361 | 2024 | NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation. | 0 |
| 38211361 | 2024 | NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation. | 0 |
| 36625206 | 2023 | Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10. | 0 |
| 38132101 | 2023 | Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. | 1 |
| 36625206 | 2023 | Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10. | 0 |
| 38132101 | 2023 | Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. | 1 |
| 35349255 | 2022 | Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. | 2 |
| 35656794 | 2022 | CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability. | 9 |
| 35709007 | 2022 | CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis. | 6 |
| 35787294 | 2022 | Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10. | 10 |
| 35349255 | 2022 | Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. | 2 |
| 35656794 | 2022 | CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability. | 9 |
| 35709007 | 2022 | CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis. | 6 |
| 35787294 | 2022 | Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10. | 10 |
| 32651855 | 2021 | Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis. | 0 |
Citation
Dessen P
CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61790/chchd10-(coiled-coil-helix-coiled-coil-helix-domain-containing-10)
