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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ECHDC2
enoyl-CoA hydratase domain containing 2
Chromosome 1 · 1p32.3
NCBI Gene: 55268Ensembl: ENSG00000121310.17HGNC: HGNC:23408UniProt: B7Z7N0
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionenoyl-CoA hydratase activityfatty acid beta-oxidationRNA bindingAlzheimer diseasegastric canceridiopathic pulmonary fibrosisneoplasm
✦AI Summary

ECHDC2 (enoyl-CoA hydratase domain containing 2) is a mitochondrial enzyme with catalytic activity in fatty acid beta-oxidation and lipid metabolism 1. The gene exhibits enoyl-CoA hydratase activity and possesses RNA binding capacity [GO Annotations]. In gastric cancer, ECHDC2 functions as a tumor suppressor by binding NEDD4 to promote ubiquitination and degradation of MCCC2, thereby inhibiting aerobic glycolysis and cancer cell proliferation 1. Low ECHDC2 expression correlates with poor prognosis in gastric cancer patients 1. Beyond oncology, ECHDC2 was identified as one of eight key mitochondrial genes associated with calcific aortic valve disease pathogenesis, linked to immune cell infiltration and mitochondrial dysfunction 2. In sarcopenia research, ECHDC2 emerged as a protective factor against age-related skeletal muscle degeneration, suggesting exercise exerts anti-sarcopenia effects through fatty acid oxidation regulation 3. ECHDC2 was also identified as a hub gene associated with intracranial aneurysm rupture 4 and as a component of prognostic signatures in HPV-positive oropharyngeal cancer 5 and muscle-invasive bladder cancer 6. Additionally, genetic variants in ECHDC2 correlate with differential methylation patterns and have been implicated in drug dependence susceptibility 7. These findings establish ECHDC2 as a multifunctional gene regulating metabolic and immunological processes across multiple disease contexts.

Sources cited
1
ECHDC2 inhibits gastric cancer cell proliferation by binding NEDD4 to degrade MCCC2 and suppress aerobic glycolysis and P38 MAPK pathway; low expression associated with poor prognosis
PMID: 38783226
2
ECHDC2 identified as one of eight key mitochondrial genes associated with calcific aortic valve disease pathogenesis involving mitochondrial dysfunction and immune infiltration
PMID: 39384885
3
ECHDC2 identified as a protective factor against sarcopenia through exercise-induced fatty acid oxidation regulation
PMID: 39409102
4
ECHDC2 identified as hub gene associated with intracranial aneurysm rupture and progression
PMID: 32084215
5
ECHDC2 identified as prognosticator in HPV-positive oropharyngeal head and neck squamous cell carcinoma
PMID: 31310629
6
ECHDC2 component of 11-gene prognostic signature for muscle-invasive bladder cancer based on m5C RNA modifications
PMID: 40994220
7
ECHDC2 genetic variant rs11585570 correlates with differential methylation and implicated in drug dependence susceptibility
PMID: 32917399
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.27Weak
gastric cancerOpen Targets
0.06Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
bacteriemiaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
cardiovascular diseaseOpen Targets
0.01Suggestive
sarcopeniaOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
breast adenocarcinomaOpen Targets
0.00Suggestive
hypotrichosis 1Open Targets
0.00Suggestive
ischemiaOpen Targets
0.00Suggestive
periodontitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ECI1Shared pathway100%ECH1Shared pathway100%ECI2Shared pathway100%ECHDC1Shared pathway100%HSDL2Protein interaction90%HADHProtein interaction85%
Tissue Expression6 tissues
Liver
100%
Ovary
31%
Heart
7%
Lung
6%
Bone Marrow
4%
Brain
1%
Gene Interaction Network
Click a node to explore
ECHDC2ECI1ECH1ECI2ECHDC1HSDL2HADH
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86YB7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.55–1.03]
RankingsWhere ECHDC2 stands among ~20K protein-coding genes
  • #14,416of 20,598
    Most Researched19
  • #10,248of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedECHDC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis.
PMID: 38783226
Mol Med · 2024
1.00
2
Multiomics identification of ALDH9A1 as a crucial immunoregulatory molecule involved in calcific aortic valve disease.
PMID: 39384885
Sci Rep · 2024
0.90
3
RNA m
PMID: 40994220
Mol Carcinog · 2025
0.80
4
Identification of coagulation-related hub genes in ischemic stroke based on bioinformatics integration analysis and investigation of their immune regulatory mechanisms.
PMID: 41444657
Eur J Med Res · 2025
0.70
5
Exploring allele specific methylation in drug dependence susceptibility.
PMID: 32917399
J Psychiatr Res · 2021
0.60