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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ECE2
endothelin converting enzyme 2
Chromosome 3 · 3q27.1
NCBI Gene: 9718Ensembl: ENSG00000145194.20HGNC: HGNC:13275UniProt: P0DPD6
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptide hormone processingcytoplasmic vesicle membranemetalloendopeptidase activitytransport vesicle membraneAbnormality of the skeletal systemobesityatrial fibrillationedema
✦AI Summary

ECE2 (endothelin converting enzyme 2) is a metalloendopeptidase that primarily converts big endothelin-1 to the potent vasoconstrictor endothelin-1, requiring acidic pH for optimal activity 1. The enzyme exhibits broad substrate specificity, also processing various neuroendocrine peptides including neurotensin, angiotensin I, substance P, and peptides derived from proenkephalin and prodynorphin 1. ECE2 functions in multiple cellular processes including neurogenesis and neuronal migration during cortical development, where its disruption leads to periventricular heterotopia through abnormal neural progenitor and neuron localization 2. The gene is located on chromosome 3-q29 and exists as multiple mRNA isoforms with structural diversity at the 5'-terminus 3. ECE2 plays a protective role in Alzheimer's disease by degrading amyloid-β protein, with rare coding mutations (R186C and F751S) significantly impairing this enzymatic activity and contributing to AD pathogenesis 4. The enzyme is also implicated in cancer biology, serving as a prognostic biomarker in lung adenocarcinoma and being identified as a potential driver gene in intrahepatic cholangiocarcinoma 56. Additionally, ECE2 contributes to melanoma metastatic plasticity by processing endothelin-3, promoting phenotype switching between invasive and proliferative states 7.

Sources cited
1
ECE2 converts big endothelin-1 to endothelin-1 and requires acidic pH for optimal activity
PMID: 16999223
2
ECE2 regulates neurogenesis and neuronal migration during cortical development
PMID: 32207244
3
ECE2 is located on chromosome 3q28-q29 and has multiple mRNA isoforms
PMID: 11718899
4
ECE2 degrades amyloid-β protein and rare mutations impair this activity in Alzheimer's disease
PMID: 32102983
5
ECE2 serves as a prognostic biomarker in lung adenocarcinoma
PMID: 36299451
6
ECE2 is identified as a potential driver gene in intrahepatic cholangiocarcinoma
PMID: 25526346
7
ECE2 contributes to melanoma metastatic plasticity through endothelin-3 processing
PMID: 28181494
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.45Moderate
obesityOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.37Weak
edemaOpen Targets
0.36Weak
diabetes mellitusOpen Targets
0.36Weak
type 2 diabetes mellitusOpen Targets
0.32Weak
heart failureOpen Targets
0.29Weak
diabetic eye diseaseOpen Targets
0.29Weak
diabetic retinopathyOpen Targets
0.29Weak
metabolic syndromeOpen Targets
0.27Weak
overnutritionOpen Targets
0.19Weak
digestive system neoplasmOpen Targets
0.16Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
Increased blood pressureOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
Pallister-Hall syndromeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APPProtein interaction100%EDN1Protein interaction87%EDN2Protein interaction87%EDN3Protein interaction87%EDNRAProtein interaction87%EDNRBProtein interaction87%
Tissue Expression6 tissues
Liver
100%
Brain
73%
Lung
15%
Ovary
9%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ECE2APPEDN1EDN2EDN3EDNRAEDNRB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0DPD6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.67–0.96]
RankingsWhere ECE2 stands among ~20K protein-coding genes
  • #10,465of 20,598
    Most Researched38
  • #9,138of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedECE2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Endothelin.
PMID: 16999223
Handb Exp Pharmacol · 2006
1.00
2
ECE2 regulates neurogenesis and neuronal migration during human cortical development.
PMID: 32207244
EMBO Rep · 2020
0.90
3
Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization.
PMID: 11718899
Biochim Biophys Acta · 2001
0.80
4
Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
PMID: 32102983
JCI Insight · 2020
0.70
5
ECE2 is a prognostic biomarker associated with m6A modification and involved in immune infiltration of lung adenocarcinoma.
PMID: 36299451
Front Endocrinol (Lausanne) · 2022
0.60