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Reviewed May 2013
What is the official name of the EPCAM gene?
The official name of this gene is “epithelial cell adhesion molecule.”
EPCAM is the gene's official symbol. The EPCAM gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the EPCAM gene?
The EPCAM gene provides instructions for making a protein known as epithelial cellular adhesion molecule (EpCAM). This protein is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. The EpCAM protein is found spanning the membrane that surrounds epithelial cells, where it helps cells stick to one another (cell adhesion). In addition, the protein in the cell membrane can be cut at a specific location, releasing a piece called the intracellular domain (EpICD), which helps relay signals from outside the cell to the nucleus of the cell. EpICD travels to the nucleus and associates with other proteins, forming a group (complex) that regulates the activity of several genes that are involved in cell growth and division (proliferation), maturation (differentiation), and movement (migration), all of which are important processes for the proper development of cells and tissues.
How are changes in the EPCAM gene related to health conditions?
Where is the EPCAM gene located?
Cytogenetic Location: 2p21
Molecular Location on chromosome 2: base pairs 47,369,147 to 47,387,027
The EPCAM gene is located on the short (p) arm of chromosome 2 at position 21.
More precisely, the EPCAM gene is located from base pair 47,369,147 to base pair 47,387,027 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EPCAM?
You and your healthcare professional may find the following resources about EPCAM helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the EPCAM gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EPCAM?
adhesion molecule ; calcium ; cancer ; cell ; cell adhesion ; cell membrane ; chromosome ; colon ; colorectal ; congenital ; differentiation ; DNA ; DNA repair ; domain ; epithelial ; gene ; intestine ; intracellular ; messenger RNA ; methyl ; molecule ; mRNA ; nucleus ; precursor ; proliferation ; promoter ; promoter region ; protein ; rectum ; RNA ; syndrome ; tissue ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.