HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CHCHD5
coiled-coil-helix-coiled-coil-helix domain containing 5
Chromosome 2 · 2q14.1
NCBI Gene: 84269Ensembl: ENSG00000125611.16HGNC: HGNC:17840UniProt: A0A2U9EWT9
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrioncellular respirationmitochondrial intermembrane spaceChronic Obstructive Asthmalower respiratory tract diseaselung cancerprostate carcinoma
✦AI Summary

CHCHD5 (also termed CHTM1) is a mitochondrial protein containing a characteristic coiled-coil-helix-coiled-coil-helix (CHCH) domain stabilized by two disulfide bonds 1. The protein localizes to both mitochondria and cytosol, where it plays critical roles in cellular metabolism and stress response 2. Mechanistically, CHCHD5 regulates mitochondrial function by maintaining oxidative phosphorylation capacity; CHCHD5 deficiency reduces mitochondrial oxygen consumption, ATP levels, and causes oxidative stress 2. Under nutrient deprivation, CHCHD5 promotes cell survival through PKC, CREB, and PGC-1α signaling pathways and supports lipid metabolism 2. The protein negatively regulates apoptosis-inducing factor 1 (AIF1)-mediated cell death by preventing AIF1 translocation from mitochondria, a mechanism antagonized by p38 kinase during metabolic stress 3. In disease contexts, CHCHD5 expression is significantly elevated in breast and colon cancer tissues, where it promotes tumor cell proliferation under nutrient-limiting conditions 2. Additionally, the CHCHD5 polymorphism rs3748024 is associated with systolic blood pressure, BMI, obesity, and triglyceride levels in pediatric populations 4, linking CHCHD5 to cardiometabolic disease risk. These findings establish CHCHD5 as a metabolic regulator with potential therapeutic relevance in cancer and cardiovascular disease.

Sources cited
1
CHCHD5/CHTM1 localizes to mitochondria and cytosol; its deficiency impairs mitochondrial respiration, ATP production, lipid metabolism, and cell proliferation under nutrient deprivation; upregulated in breast and colon cancer
PMID: 29371680
2
CHCHD5 contains a CHCH fold stabilized by two disulfide bonds and is a substrate of the mitochondrial Mia40-dependent import machinery
PMID: 22842048
3
CHCHD5/CHTM1 interacts with and negatively regulates AIF1, preventing its translocation to cytosol/nucleus; p38 kinase antagonizes CHCHD5 function during metabolic stress-induced cell death
PMID: 31221176
4
CHCHD5 SNP rs3748024 is associated with systolic blood pressure, BMI, obesity, and triglycerides in Chinese children
PMID: 28893745
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Chronic Obstructive AsthmaOpen Targets
0.17Weak
lower respiratory tract diseaseOpen Targets
0.15Weak
lung cancerOpen Targets
0.07Suggestive
prostate carcinomaOpen Targets
0.05Suggestive
placental retentionOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
obesityOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Neoplasm of the lungOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
adenocarcinomaOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
amyotrophic lateral sclerosisOpen Targets
0.00Suggestive
frontotemporal dementiaOpen Targets
0.00Suggestive
cystOpen Targets
0.00Suggestive
metastatic neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COQ10BShared pathway100%COQ10AShared pathway100%APOOLProtein interaction100%MICOS13Protein interaction100%CHCHD3Protein interaction83%APOOProtein interaction83%
Tissue Expression6 tissues
Liver
100%
Heart
61%
Lung
56%
Bone Marrow
54%
Brain
50%
Ovary
47%
Gene Interaction Network
Click a node to explore
CHCHD5COQ10BCOQ10AAPOOLMICOS13CHCHD3APOO
PROTEIN STRUCTURE
Preparing viewer…
PDB2LQL · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.39–1.01]
RankingsWhere CHCHD5 stands among ~20K protein-coding genes
  • #15,520of 20,598
    Most Researched15
  • #9,923of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedCHCHD5
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
CHTM1 regulates cancer cell sensitivity to metabolic stress via p38-AIF1 pathway.
PMID: 31221176
J Exp Clin Cancer Res · 2019
1.00
2
Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.
PMID: 22842048
J Struct Biol · 2012
0.88
3
CHTM1, a novel metabolic marker deregulated in human malignancies.
PMID: 29371680
Oncogene · 2018
0.75
4
Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.
PMID: 33004232
Neurobiol Aging · 2021
0.63
5
PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.
PMID: 30398675
Mov Disord · 2018
0.50