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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EPCAM
epithelial cell adhesion molecule
Chromosome 2 Β· 2p21
NCBI Gene: 4072Ensembl: ENSG00000119888.12HGNC: HGNC:11529UniProt: P16422
365PubMed Papers
22Diseases
10Drugs
81Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-containing complex bindingbicellular tight junctionplasma membranecongenital diarrhea 5 with tufting enteropathyLynch syndrome 8Intestinal epithelial dysplasiagastric cancer
✦AI Summary

EPCAM (epithelial cell adhesion molecule) is a cell surface glycoprotein that serves multiple critical functions in epithelial biology and cancer. The protein acts as a tissue plasticity modulator by repressing myosin contractility through PKC signaling cascades, thereby regulating cell adhesion and migration 1. EPCAM functions as a mechanostat that tunes adhesive and migratory behaviors, with differential effects on collective cell behavior depending on expression levels 2. In cancer, EPCAM serves as a cancer stem cell marker strongly associated with poor clinical outcomes in hepatocellular carcinoma, where EpCAM-high cells resist natural killer cell-mediated cytotoxicity by upregulating CEACAM1 3. The protein undergoes regulated intramembrane proteolysis, generating different variants including membrane-bound full-length (EpCAM_MF) and truncated (EpCAM_MT) forms across various carcinoma types 4. EPCAM expression positively correlates with Wnt/Ξ²-catenin pathway activation in colon cancer, promoting cell proliferation and reducing apoptosis 5. Additionally, EPCAM stabilization through MYC-mediated suppression of lysosomal activity is required for WNT oncogenic transcription in gastric tumors 6. The protein can be detected in normal human and murine blood and bone marrow, suggesting physiological roles beyond pathological contexts 7.

Sources cited
1
EPCAM acts as a tissue plasticity modulator by repressing myosin contractility through PKC signaling cascades
PMID: 32961790
2
EPCAM functions as a mechanostat that differentially regulates collective cell behavior and wetting processes
PMID: 39572744
3
EpCAM-high cancer stem cells resist NK cell cytotoxicity by upregulating CEACAM1 and are associated with poor prognosis in hepatocellular carcinoma
PMID: 32221015
4
EPCAM undergoes regulated intramembrane proteolysis generating different variants (EpCAM_MF and EpCAM_MT) across carcinoma types
PMID: 24465008
5
EPCAM expression positively correlates with Wnt/Ξ²-catenin pathway activation in colon cancer
PMID: 25966221
6
EPCAM stabilization through MYC-mediated lysosomal suppression is required for WNT oncogenic transcription in gastric tumors
PMID: 38971196
7
EPCAM-positive epithelial cells are detectable in normal human and murine blood and bone marrow
PMID: 37154563
Disease Associationsβ“˜22
congenital diarrhea 5 with tufting enteropathyOpen Targets
0.76Strong
Lynch syndrome 8Open Targets
0.73Strong
Intestinal epithelial dysplasiaOpen Targets
0.71Strong
gastric cancerOpen Targets
0.55Moderate
neoplasmOpen Targets
0.55Moderate
Lynch syndromeOpen Targets
0.50Moderate
AscitesOpen Targets
0.49Moderate
colon carcinomaOpen Targets
0.43Moderate
hereditary neoplastic syndromeOpen Targets
0.42Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.42Moderate
colorectal cancerOpen Targets
0.41Moderate
hereditary nonpolyposis colorectal carcinomaOpen Targets
0.40Moderate
alcohol drinkingOpen Targets
0.38Weak
hereditary nonpolyposis colon cancerOpen Targets
0.37Weak
bacterial diseaseOpen Targets
0.37Weak
urinary bladder carcinomaOpen Targets
0.37Weak
colonic neoplasmOpen Targets
0.34Weak
urinary bladder cancerOpen Targets
0.34Weak
hereditary breast carcinomaOpen Targets
0.33Weak
Hereditary breast cancerOpen Targets
0.33Weak
Diarrhea 5, with tufting enteropathy, congenitalUniProt
Lynch syndrome 8UniProt
Pathogenic Variants81
NM_002354.3(EPCAM):c.556-14A>GPathogenic
Congenital diarrhea 5 with tufting enteropathy|Congenital diarrhea 5 with tufting enteropathy;Lynch syndrome 8|not provided|EPCAM-related disorder|Familial cancer of breast
β˜…β˜…β˜†β˜†2025
NM_002354.3(EPCAM):c.491+1G>APathogenic
Congenital diarrhea 5 with tufting enteropathy|Gastric cancer|Hereditary cancer-predisposing syndrome|not provided|Uterine corpus endometrial carcinoma|Colon adenocarcinoma
β˜…β˜…β˜†β˜†2025
NM_002354.3(EPCAM):c.1A>G (p.Met1Val)Likely pathogenic
Gastric cancer|EPCAM-related disorder|Familial cancer of breast
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_002354.3(EPCAM):c.492-2A>GPathogenic
Congenital diarrhea 5 with tufting enteropathy|not provided
β˜…β˜…β˜†β˜†2024
NM_002354.3(EPCAM):c.227C>G (p.Ser76Ter)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜…β˜†β˜†2024β†’ Residue 76
NM_002354.3(EPCAM):c.499dup (p.Gln167fs)Pathogenic
Congenital diarrhea 5 with tufting enteropathy|not provided|EPCAM-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 167
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter)Pathogenic
Congenital diarrhea 5 with tufting enteropathy|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 5
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter)Pathogenic
Congenital diarrhea 5 with tufting enteropathy|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 89
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜…β˜†β˜†2017β†’ Residue 125
NM_002354.3(EPCAM):c.225del (p.Ser76fs)Likely pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 76
NM_002354.3(EPCAM):c.540del (p.Phe180fs)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 180
NM_002354.3(EPCAM):c.83_88del (p.Val28_Cys29del)Likely pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 28
NM_002354.3(EPCAM):c.589C>T (p.Gln197Ter)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 197
NM_002354.3(EPCAM):c.579del (p.Ile193fs)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2024β†’ Residue 193
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter)Pathogenic
Congenital diarrhea 5 with tufting enteropathy|Gastric cancer
β˜…β˜†β˜†β˜†2024β†’ Residue 138
NM_002354.3(EPCAM):c.607dup (p.Thr203fs)Pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2023β†’ Residue 203
NM_002354.3(EPCAM):c.73G>T (p.Glu25Ter)Pathogenic
not provided|EPCAM-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 25
NM_002354.3(EPCAM):c.610C>T (p.Gln204Ter)Likely pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2023β†’ Residue 204
NM_002354.3(EPCAM):c.567_568insAATA (p.Val190fs)Likely pathogenic
Congenital diarrhea 5 with tufting enteropathy
β˜…β˜†β˜†β˜†2023β†’ Residue 190
NM_002354.3(EPCAM):c.185-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Drug Targets10
ADECATUMUMABPhase II
Epithelial cell adhesion molecule inhibitor
prostate cancer
CATUMAXOMABApproved
Epithelial cell adhesion molecule cross-linking agent
CITATUZUMAB BOGATOXPhase I
Epithelial cell adhesion molecule binding agent
EDRECOLOMABApproved
Epithelial cell adhesion molecule cross-linking agent
colorectal cancer
IGN-101Phase II
Epithelial cell adhesion molecule binding agent
colorectal cancer
ING-1Phase I
Epithelial cell adhesion molecule other
MOC31-PEPhase I
Epithelial cell adhesion molecule binding agent
carcinoma
OPORTUZUMAB MONATOXApproved
Elongation factor 2 inhibitor
neoplasm
SOLITOMABPhase I
Epithelial cell adhesion molecule cross-linking agent
TUCOTUZUMAB CELMOLEUKINPhase II
Epithelial cell adhesion molecule other
ovarian cancer
Related Genes
MSH2Protein interaction100%PMS2Protein interaction100%METProtein interaction96%CD44Protein interaction93%MUC1Protein interaction93%CD9Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
99%
Lung
19%
Liver
3%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
EPCAMMSH2PMS2METCD44MUC1CD9
PROTEIN STRUCTURE
Preparing viewer…
PDB4MZV Β· 1.86 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.34LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.61–1.34]
RankingsWhere EPCAM stands among ~20K protein-coding genes
  • #846of 20,598
    Most Researched365 Β· top 5%
  • #453of 1,025
    FDA-Approved Drug Targets3
  • #916of 5,498
    Most Pathogenic Variants81 Β· top quartile
  • #14,037of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedEPCAM
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
EpCAM-high liver cancer stem cells resist natural killer cell-mediated cytotoxicity by upregulating CEACAM1.
PMID: 32221015
J Immunother Cancer Β· 2020
1.00
2
Catumaxomab: First Approval.
PMID: 40304879
Drugs Β· 2025
0.90
3
Expression of EpCAM(MF) and EpCAM(MT) variants in human carcinomas.
PMID: 24465008
J Clin Pathol Β· 2014
0.80
4
High-Affinity Fully Human Anti-EpCAM Antibody with Biased IL-2 Exhibits Potent Antitumor Activity.
PMID: 39595576
Biomolecules Β· 2024
0.76
5
Expression of EpCAM and Wnt/ Ξ²-catenin in human colon cancer.
PMID: 25966221
Genet Mol Res Β· 2015
0.70