EPCAM
This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
Full Name
Epithelial Cell Adhesion Molecule
Research Area
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.
Biological Process
Cell-cell adhesion via plasma-membrane adhesion molecules Source: Ensembl
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell-cell adhesion mediated by cadherin Source: UniProtKB
Positive regulation of cell motility Source: Ensembl
Positive regulation of cell population proliferation Source: UniProtKB
Positive regulation of stem cell proliferation Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Signal transduction involved in regulation of gene expression Source: UniProtKB
Stem cell differentiation Source: UniProtKB
Ureteric bud development Source: Ensembl
Cellular Location
Lateral cell membrane; Tight junction. Colocalizes with CLDN7 at the lateral cell membrane and tight junction.
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.
Hereditary non-polyposis colorectal cancer 8 (HNPCC8):
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. 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.
Topology
Extracellular: 24-265
Helical: 266-288
Cytoplasmic: 289-314
PTM
Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability.
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