The EPCAM gene homepage

NOTE: alias for geneID is TACSTD1
General information
Gene symbol EPCAM
Gene name epithelial cell adhesion molecule
Chromosome 2
Chromosomal band p21
Imprinted Unknown
Genomic reference LRG_215
Transcript reference NM_002354.2
Exon/intron information NM_002354.2 exon/intron table
Associated with diseases DIAR5, HNPCC, HNPCC1 (Lynch), HNPCC8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Mamata Sivagnanam, Johan den Dunnen, and InSiGHT - John-Paul Plazzer
Total number of public variants reported 568
Unique public DNA variants reported 331
Individuals with public variants 964
Hidden variants 5
Download all this gene's data Download all data
Notes We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
Date created June 23, 2009
Date last updated November 27, 2023
Version EPCAM:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002354.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 11529
Entrez Gene 4072
PubMed articles EPCAM
OMIM - Gene 185535
OMIM - Diseases DIAR5 (diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5))
HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome))
HNPCC8 (cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8))
GeneCards EPCAM
GeneTests EPCAM
Orphanet EPCAM

Active transcripts




NCBI ID     

NCBI Protein ID     

00007150 2 epithelial cell adhesion molecule NM_002354.2 NP_002345.2 568

Copyright & disclaimer
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