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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 ?, AML, CRC, DIAR-5, HNPCC-8, Lynch Syndrome, MINAS, MRTES, polyposis, adenoma, cancer, cancer, bladder, cancer, brain, cancer, breast, cancer, endometrial, cancer, gastric (Neoplasm of stomach), cancer, ovarian, cancer, pancreatic, cancer, rectal, cancer, skin, squamous cell carc
Citation reference(s) -
Curators (2) John Paul Plazzer and Johan den Dunnen
Total number of public variants reported 12
Unique public DNA variants reported 7
Individuals with public variants 21
Hidden variants 0
Date created December 16, 2015
Date last updated August 14, 2017
Version EPCAM:170814

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Graphs Graphs displaying summary information of all variants in the database »
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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
HGNC 11529
Entrez Gene 4072
PubMed articles EPCAM
OMIM - Gene 185535
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
CRC (cancer, colorectal (CRC))
DIAR-5 (diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5))
HNPCC-8 (cancer, colorectal, nonpolyposis, hereditary, type 8 (HNPCC-8))
Lynch Syndrome (cancer, colorectal, nonpolyposis, hereditary, type 1 (Lynch syndrome, HNPCC-1))
MRTES (Muir-Torre Syndrome)
cancer, bladder
cancer, endometrial
cancer, gastric (Neoplasm of stomach)
cancer, ovarian
cancer, pancreatic


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000005 2 epithelial cell adhesion molecule NM_002354.2 NP_002345.2 12


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