The EPCAM gene homepage

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
Associated with diseases DIAR-5, HNPCC-1, HNPCC-8
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 56
Unique public DNA variants reported 12
Individuals with public variants 33
Hidden variants 1
Date created November 30, -0001
Date last updated September 28, 2016
Version EPCAM:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025395 2 epithelial cell adhesion molecule NM_002354.2 NP_002345.2 56