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	https://www.LOVD.nl/EPCAM
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))
HGMD	EPCAM
GeneCards	EPCAM
GeneTests	EPCAM
Orphanet	EPCAM

Active transcripts

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Operator	Column type	Example	Matches
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$	Text	Ser)$	all entries ending with 'Ser)'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00007150	2	epithelial cell adhesion molecule	NM_002354.2	NP_002345.2	568

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Global Variome shared LOVD

EPCAM (epithelial cell adhesion molecule)