Gene: EPCAM

Alternate names for this Gene: DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|TACSTD1|TROP1

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: epithelial cell adhesion molecule

Type of Gene: protein-coding

rs606231203 in EPCAM gene and DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL PMID 18572020 2008 Identification of EpCAM as the gene for congenital tufting enteropathy.

PMID 20981223 2010 Tufting Enteropathy with EpCAM Mutations in Two Siblings.

PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.

PMID 24142340 2014 Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

rs376155665 in EPCAM gene and Hereditary Nonpolyposis Colorectal Neoplasms PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.

PMID 28701297 2017 Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.

PMID 24142340 2014 Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.