EPCAM epithelial cell adhesion molecule

Gene ID: 4072, updated on 29-Mar-2023
Gene type: protein coding
Also known as: ESA; KSA; M4S1; MK-1; DIAR5; EGP-2; EGP40; KS1/4; MIC18; TROP1; BerEp4; EGP314; HNPCC8; LYNCH8; MOC-31; Ber-Ep4; TACSTD1

Summary

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital diarrhea 5 with tufting enteropathy MedGen: C2750737OMIM: 613217GeneReviews: Not available	See labs
Lynch syndrome 8 MedGen: C2750471OMIM: 613244GeneReviews: Lynch Syndrome	See labs

Genomic context

Location:: 2p21

Sequence:: Chromosome: 2; NC_000002.12 (47369311..47387020)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for EPCAM variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
EPCAM homepage - Colon cancer gene variant databases
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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