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 NG_012352.2
Transcript reference NM_002354.2
Exon/intron information NM_002354.2 exon/intron table
Associated with diseases DIAR-5, HNPCC, HNPCC-1, HNPCC-8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Mamata Sivagnanam and Johan den Dunnen
Total number of public variants reported 223
Unique public DNA variants reported 85
Individuals with public variants 180
Hidden variants 0
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 August 02, 2018
Version EPCAM:180802

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 http://www.LOVD.nl/EPCAM
External URL Orphanet
HGNC 11529
Entrez Gene 4072
PubMed articles EPCAM
OMIM - Gene 185535
OMIM - Diseases DIAR-5 (diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5))
HNPCC-1 (Lynch)
HNPCC-8 (cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8))
HGMD EPCAM
GeneCards EPCAM
GeneTests EPCAM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007150 2 epithelial cell adhesion molecule NM_002354.2 NP_002345.2 223


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The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.