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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHCHD2
coiled-coil-helix-coiled-coil-helix domain containing 2
Chromosome 7 · 7p11.2
NCBI Gene: 51142Ensembl: ENSG00000106153.15HGNC: HGNC:21645UniProt: Q9Y6H1
111PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of mitochondrial ATP synthesis coupled electron transportprotein bindingsequence-specific DNA bindingDNA-binding transcription factor bindingParkinson disease 22, autosomal dominantneuropathyParkinson diseaseneoplasm
✦AI Summary

CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) is a mitochondrial protein with dual roles as a transcription factor and regulator of mitochondrial dynamics. As a transcription factor, CHCHD2 binds to oxygen-responsive elements and activates transcription under both hypoxic and normoxic conditions 1. The protein localizes to mitochondrial intermembrane space and nucleus, where it regulates mitochondrial ATP synthesis and cellular responses to oxidative stress 1. CHCHD2 functions as a mitochondrial integrated stress response (mtISR) suppressor by interacting with OMA1 to restrain stress responses and suppress OPA1 processing for mitochondrial fusion 2. During mitochondrial stress, CHCHD2 translocates to the cytosol and interacts with eIF2α to attenuate mtISR overactivation 2. Disease-associated mutations in CHCHD2 cause autosomal dominant Parkinson's disease through loss-of-function mechanisms 34. Protein-truncating variants, particularly p.P53Afs*38 found exclusively in Asian populations, are enriched in early-onset Parkinson's disease and cause mitochondrial dysfunction 3. CHCHD2 dysregulation is also implicated in Huntington's disease neurodevelopment, where mutant huntingtin disrupts CHCHD2-mediated neurometabolic programming 5. Beyond neurological diseases, CHCHD2 overexpression promotes liver fibrosis in nonalcoholic steatohepatitis through Notch/osteopontin signaling 6.

Sources cited
1
CHCHD2 functions as transcription factor binding to oxygen responsive elements
PMID: 23303788
2
CHCHD2 acts as mtISR suppressor through OMA1 interaction and eIF2α regulation
PMID: 35173147
3
CHCHD2 mutations cause early-onset Parkinson's disease with specific variants in Asian populations
PMID: 35861376
4
CHCHD2 mutations cause Parkinson's disease through loss-of-function mechanisms
PMID: 37021679
5
CHCHD2 dysregulation mediates neurodevelopmental defects in Huntington's disease
PMID: 39174523
6
CHCHD2 promotes liver fibrosis through Notch/osteopontin signaling in NASH
PMID: 36477358
Disease Associationsⓘ21
Parkinson disease 22, autosomal dominantOpen Targets
0.58Moderate
neuropathyOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
Huntington diseaseOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.07Suggestive
osteomyelitisOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
Hepatic fibrosisOpen Targets
0.06Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.05Suggestive
brain compressionOpen Targets
0.05Suggestive
edemaOpen Targets
0.05Suggestive
Parkinson disease 22UniProt
Pathogenic Variants2
NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile)Pathogenic
Parkinson disease 22, autosomal dominant|not provided
★☆☆☆2023→ Residue 61
NM_016139.4(CHCHD2):c.300+5G>APathogenic
Parkinson disease 22, autosomal dominant
☆☆☆☆2015
View on ClinVar ↗
Related Genes
COX4I1Protein interaction100%CHCHD3Protein interaction100%ATP5F1AProtein interaction100%ATP5PDProtein interaction90%CHCHD6Protein interaction89%PARK7Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Heart
64%
Liver
64%
Bone Marrow
57%
Lung
54%
Ovary
50%
Gene Interaction Network
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CHCHD2COX4I1CHCHD3ATP5F1AATP5PDCHCHD6PARK7
PROTEIN STRUCTURE
Preparing viewer…
PDB9OYR · 2.03 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.59LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.73–1.59]
RankingsWhere CHCHD2 stands among ~20K protein-coding genes
  • #4,262of 20,598
    Most Researched111 · top quartile
  • #4,298of 5,498
    Most Pathogenic Variants2
  • #15,608of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedCHCHD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
PMID: 35328025
Genes (Basel) · 2022
1.00
2
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
PMID: 35861376
Eur J Neurol · 2022
0.90
3
Mitochondrial Dysfunction and Mitophagy in Parkinson's Disease: From Mechanism to Therapy.
PMID: 33323315
Trends Biochem Sci · 2021
0.80
4
Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
PMID: 39174523
Nat Commun · 2024
0.70
5
CHCHD2 and CHCHD10 regulate mitochondrial dynamics and integrated stress response.
PMID: 35173147
Cell Death Dis · 2022
0.60