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EPCAM gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EPCAM gene

The EPCAM gene provides instructions for making a protein that helps epithelial cells stick together and regulates cell signaling.

Normal Function

The EPCAM gene provides instructions for making the epithelial cellular adhesion molecule (EpCAM). This protein is found in epithelial cells, which line the surfaces and cavities of the body. EpCAM spans the cell membrane and helps cells stick to one another (cell adhesion).

The protein can be cleaved to release a piece called the intracellular domain (EpICD), which travels to the cell nucleus. There, it joins with other proteins to regulate genes involved in cell growth, division (proliferation), maturation (differentiation), and movement (migration).

Health Conditions Related to Genetic Changes

Lynch syndrome

Certain variants in the EPCAM gene are associated with Lynch syndrome, which increases the risk of colorectal cancer. The EPCAM gene is located next to the MSH2 gene on chromosome 2. Specific EPCAM variants lead to the formation of a long mRNA that includes both EPCAM and MSH2. This results in the inactivation of the MSH2 gene through a process called promoter hypermethylation. Because the MSH2 protein is essential for DNA repair, its loss leads to the accumulation of DNA errors and an increased risk of cancer.

Other disorders

Variants in the EPCAM gene can cause congenital tufting enteropathy, a condition characterized by abnormal development of epithelial cells in the intestines. In this condition, the villi (finger-like projections that absorb nutrients) have abnormal "tufts" of extra epithelial cells. This leads to life-threatening diarrhea and poor growth. The condition is caused by an absence of functional EpCAM protein, which disrupts the signaling necessary for proper intestinal development.

Frequently Asked Questions

specific change in the EPCAM gene can indirectly inactivate the nearby MSH2 gene, which is crucial for DNA repair. When MSH2 is not working correctly, DNA errors accumulate, significantly increasing the risk of developing certain cancers, especially colorectal cancer, as part of Lynch syndrome.
Congenital tufting enteropathy is characterized by severe, life-threatening diarrhea starting shortly after birth and poor growth. It's caused by the absence of a functional EpCAM protein, which disrupts normal intestinal development. Treatment primarily involves specialized nutritional support, often through intravenous feeding (parenteral nutrition), as well as managing fluid and electrolyte imbalances.
Lynch syndrome is inherited in an autosomal dominant pattern. If you have an EPCAM gene variant that causes Lynch syndrome, each of your children has a 50% chance of inheriting the same variant. It's recommended that close relatives also consider genetic counseling and testing.
Individuals with EPCAM-related Lynch syndrome typically require more frequent and earlier cancer screenings than the general population. This often includes regular colonoscopies starting in early adulthood, upper endoscopy, and sometimes other screenings depending on family history and specific risks. Your doctor will create a personalized surveillance plan.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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