EPCAM

Function

May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.

Involvement in disease

Diarrhea 5, with tufting enteropathy, congenital

DIAR5

An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.

None

The disease is caused by variants affecting the gene represented in this entry.

Hereditary non-polyposis colorectal cancer 8

HNPCC8

An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

None

The disease is caused by variants affecting the gene represented in this entry. HNPCC8 results from heterozygous deletion of 3-prime exons of EPCAM and intergenic regions directly upstream of MSH2, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.

Post-translational modifications

Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability.

Sequence similarities

Belongs to the EPCAM family.

Tissue specificity

Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem cells (ESC). Levels rapidly diminish as soon as ESC's differentiate (at protein levels). Expressed in almost all epithelial cell membranes but not on mesodermal or neural cell membranes. Found on the surface of adenocarcinoma.

Cellular localization

• Lateral cell membrane
• Single-pass type I membrane protein
• Cell junction
• Tight junction
• Colocalizes with CLDN7 at the lateral cell membrane and tight junction.

Alternative names

• Epithelial cell adhesion molecule
• Ep-CAM
• Adenocarcinoma-associated antigen
• Cell surface glycoprotein Trop-1
• Epithelial cell surface antigen
• Epithelial glycoprotein
• Epithelial glycoprotein 314
• KS 1/4 antigen
• KSA
• Major gastrointestinal tumor-associated protein GA733-2
• Tumor-associated calcium signal transducer 1
• EGP
• EGP314
• hEGP314
• M4S1
• MIC18
• TACSTD1
• TROP1
• EPCAM
• GA733-2
• M1S2

Database links

• entrezGene:4072
• omim:185535
• swissprot:P16422

Target type

Proteins

Primary research area

Oncology

Other research areas

• Immuno-oncology

Molecular weight

34932Da