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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CPE
carboxypeptidase E
Chromosome 4 · 4q32.3
NCBI Gene: 1363Ensembl: ENSG00000109472.15HGNC: HGNC:2303UniProt: A0A384N679
81PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein localization to membranecell adhesion molecule bindingcardiac left ventricle morphogenesisGolgi apparatusBDV syndromegenetic disorderneurodegenerative diseaserhabdomyolysis
✦AI Summary

Carboxypeptidase E (CPE) is a metallocarboxypeptidase with dual roles in neuroendocrine cells and cancer biology. In normal physiology, CPE functions as a sorting receptor directing prohormones to the regulated secretory pathway and processes prohormone precursors by removing dibasic C-terminal residues after endoprotease cleavage [UniProt]. The protein localizes to the Golgi apparatus and plasma membrane, participating in peptide metabolic processes and neuropeptide signaling [GO annotations]. In cancer pathology, CPE represents an emerging oncogenic driver. CPE is enriched in exosomes released from high-metastatic hepatocellular carcinoma cells compared to low-metastatic counterparts, with elevated CPE mRNA copy numbers detected in serum exosomes from cancer patients versus healthy subjects 1. Exosomal CPE delivery promotes proliferation and invasion of low-metastatic HCC cells through Cyclin D1 and c-MYC upregulation, while CPE-shRNA-loaded exosomes suppress these malignant phenotypes 1. In osteosarcoma, CPE deficiency suppresses tumor progression by upregulating PANoptosis—a form of programmed cell death—through stabilization of HYOU1 protein and activation of Hippo-YAP signaling 2. CPE knockdown markedly reduces osteosarcoma growth in vitro and in vivo 2. These findings identify CPE as a key player in exosome-mediated tumor progression and a potential therapeutic target, with CPE-shRNA-loaded exosomes offering promise as an anti-cancer treatment modality.

Sources cited
1
CPE is enriched in exosomes from high-metastatic HCC cells and promotes proliferation and invasion of cancer cells; CPE-shRNA-loaded exosomes suppress tumor growth via Cyclin D1 and c-MYC suppression
PMID: 35328535
2
CPE deficiency suppresses osteosarcoma progression and upregulates PANoptosis through HYOU1 stabilization and Hippo-YAP pathway activation
PMID: 41213463
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
BDV syndromeOpen Targets
0.70Strong
genetic disorderOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.31Weak
rhabdomyolysisOpen Targets
0.31Weak
atopic eczemaOpen Targets
0.29Weak
eye diseaseOpen Targets
0.27Weak
idiopathic pulmonary fibrosisOpen Targets
0.26Weak
disorder of earOpen Targets
0.25Weak
spermatoceleOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.08Suggestive
Varicose veinsOpen Targets
0.07Suggestive
Respiratory insufficiencyOpen Targets
0.07Suggestive
crush injuryOpen Targets
0.07Suggestive
response to stimulusOpen Targets
0.07Suggestive
sign or symptomOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
Abnormal erythrocyte morphologyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
temporal arteritisOpen Targets
0.07Suggestive
BDV syndromeUniProt
Pathogenic Variants8
NM_001873.4(CPE):c.361C>T (p.Arg121Ter)Pathogenic
Blakemore-Durmaz-Vasileiou (BDV) syndrome|BDV syndrome
★★☆☆2024→ Residue 121
NM_001873.4(CPE):c.274G>T (p.Glu92Ter)Pathogenic
Early onset severe obesity
★☆☆☆2024→ Residue 92
NM_001873.4(CPE):c.1208dup (p.Ser404fs)Likely pathogenic
BDV syndrome
★☆☆☆2024→ Residue 404
NM_001873.4(CPE):c.768T>A (p.Tyr256Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 256
NM_001873.4(CPE):c.1150C>T (p.Gln384Ter)Pathogenic
Inborn genetic diseases
★☆☆☆2022→ Residue 384
NM_001873.4(CPE):c.994del (p.Ser333fs)Pathogenic
not provided|BDV syndrome
★☆☆☆2018→ Residue 333
NM_001873.4(CPE):c.405C>A (p.Tyr135Ter)Pathogenic
BDV syndrome
☆☆☆☆2021→ Residue 135
NM_001873.4(CPE):c.76_98del (p.Glu26fs)Pathogenic
BDV syndrome
☆☆☆☆2021→ Residue 26
View on ClinVar ↗
Related Genes
SCG3Protein interaction99%SCG2Protein interaction95%PCSK1NProtein interaction90%INSProtein interaction89%CHGAProtein interaction86%CHGBProtein interaction86%
Tissue Expression6 tissues
Brain
100%
Heart
33%
Ovary
11%
Lung
4%
Liver
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CPESCG3SCG2PCSK1NINSCHGACHGB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P16870
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.83Intermediate
Observed/Expected LoF0.36 [0.23–0.56]
RankingsWhere CPE stands among ~20K protein-coding genes
  • #5,852of 20,598
    Most Researched81
  • #3,063of 5,498
    Most Pathogenic Variants8
  • #3,694of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedCPE
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Prime editing using CRISPR-Cas12a and circular RNAs in human cells.
PMID: 38200119
Nat Biotechnol · 2024
1.00
2
The biology and pathogenicity of
PMID: 38864615
Microbiol Mol Biol Rev · 2024
0.90
3
Clostridium perfringens enterotoxin (CPE) and CPE-binding domain (c-CPE) for the detection and treatment of gynecologic cancers.
PMID: 25835384
Toxins (Basel) · 2015
0.80
4
Multiresistant Gram-Negative Pathogens—A Zoonotic Problem.
PMID: 34789368
Dtsch Arztebl Int · 2021
0.70
5
Exosomal Carboxypeptidase E (CPE) and CPE-shRNA-Loaded Exosomes Regulate Metastatic Phenotype of Tumor Cells.
PMID: 35328535
Int J Mol Sci · 2022
0.60