EPCAM epithelial cell adhesion molecule [Homo sapiens] - Gene

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Summary

Official Symbol: EPCAMprovided by HGNC
Official Full Name: epithelial cell adhesion moleculeprovided by HGNC
Primary source: HGNC:11529
See related: Ensembl:ENSG00000119888; HPRD:01709; MIM:185535; Vega:OTTHUMG00000128853
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESA; KSA; M4S1; MK-1; DIAR5; EGP-2; EGP40; KS1/4; MIC18; TROP1; EGP314; HNPCC8; TACSTD1; GA733-2
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]

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Genomic context

Location :: 2p21

Sequence :: Chromosome: 2; NC_000002.11 (47596287..47614167)

See EPCAM in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In tumors of the ampulla of Vater, expression of EpCAM differed significantly between normal mucosa, adenoma and carcinoma samples. EpCAM expression was significantly correlated with better patient survival.
Title: Effect of EpCAM, CD44, CD133 and CD166 expression on patient survival in tumours of the ampulla of Vater.
subtype classification of hepatocellular carcinoma based on EpCAM and AFP status had clinicopathologic and biologic implications in aggressive phenotype and angiogenesis.
Title: Angiogenesis and clinicopathologic characteristics in different hepatocellular carcinoma subtypes defined by EpCAM and α-fetoprotein expression status.
crystals of EpCAM belonged to space group C2, with unit-cell parameters a = 86.83, b = 50.16, c = 66.56 A, beta = 127.9 degrees
Title: Expression, crystallization and preliminary X-ray characterization of the human epithelial cell-adhesion molecule ectodomain.
Deletion involving both EPCAM and the 5' part of MSH2 are associated with Lynch syndrome.
Title: Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
The expression of MK-1 and/or RegIV might be closely related to the carcinogenesis, clinical biological behaviors, and prognosis of gallbladder adenocarcinoma
Title: Expression of MK-1 and RegIV and its clinicopathological significances in the benign and malignant lesions of gallbladder.
EpCAM regulates cyclin D1 expression and localization in HSC-4 cells under anchorage-independent conditions.
Title: A novel function of EpCAM in oral squamous cell carcinoma cells under anchorage-independent conditions.
Expression patterns of the pancreatic cancer stem cell surface markers CD44, CD24 and ESA were diverse in different pancreatic adenocarcinoma cell lines and changed with their local microenvironment.
Title: Expression of CD44, CD24 and ESA in pancreatic adenocarcinoma cell lines varies with local microenvironment.
EpCAM was highly expressed in most tumours of gastrointestinal origin and in some carcinomas of the genitourinary tract. Hepatocellular carcinomas, clear cell renal cell cancer, urothelial cancer and squamous cell cancers were frequently EpCAM negative.
Title: EpCAM expression in primary tumour tissues and metastases: an immunohistochemical analysis.
Ep-CAM expression was found to be related to the suppression of pancreatic cancer cell activity and the good prognosis in pancreatic cancer patients receiving curative resection.
Title: Ep-CAM is a significant prognostic factor in pancreatic cancer patients by suppressing cell activity.
Study indicated that both c.498insC and IVS4-2A-->G mutations were predicted to truncate the C-terminal domain necessary to anchorage of EPCAM at the intercellular membrane.
Title: A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.

Submit: New GeneRIF Correction See all (88)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Colorectal cancer, hereditary nonpolyposis, type 8

MIM: 613244

Diarrhea 5, with tufting enteropathy, congenital

MIM: 613217

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Products	Interactant	Other Gene	Source	Pubs	Description
P16422	O95471	CLDN7	HPRD	PubMed
P16422	P16422	EPCAM	HPRD	PubMed
BioGRID:110250	BioGRID:110250	EPCAM	BioGRID	PubMed	Co-purification
BioGRID:110250	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
cell junction	IEA Inferred from Electronic Annotation more info
cell surface	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: epithelial cell adhesion molecule

Names: epithelial cell adhesion molecule; epithelial glycoprotein 314; human epithelial glycoprotein-2; cell surface glycoprotein Trop-1; adenocarcinoma-associated antigen; tumor-associated calcium signal transducer 1; major gastrointestinal tumor-associated protein GA733-2; membrane component, chromosome 4, surface marker (35kD glycoprotein)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012352.2 RefSeqGene

Range

28986..46866

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002354.2 → NP_002345.2 epithelial cell adhesion molecule precursor

Status: REVIEWED

Source sequence(s)

AW050533, BC014785, BP262680, DA963872, DB044092

Consensus CDS

CCDS1833.1

UniProtKB/Swiss-Prot

P16422

Related

ENSP00000263735, OTTHUMP00000159073, ENST00000263735, OTTHUMT00000250792

Conserved Domains (1) summary

cd00191
Location:65 – 125
Blast Score: 128

TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

47596287..47614167

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

47332819..47350813

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC079775.6	AAY15095.1
genomic	CH471053.2	EAX00218.1
		EAX00219.1
genomic	CQ800737.1	CAG28087.1
genomic	M93036.1	AAB00775.1
mRNA	AK026585.1	None
mRNA	AW050533.1	None
mRNA	BC014785.1	AAH14785.1
mRNA	BP262680.1	None
mRNA	CR542259.1	CAG47055.1
mRNA	CR542283.1	CAG47078.1
mRNA	DA963872.1	None
mRNA	DB044092.1	None
mRNA	M26481.1	AAA59543.1
mRNA	M32306.1	AAA35723.1
mRNA	M32325.1	AAA36151.1
mRNA	M33011.1	AAA35861.1
mRNA	X14758.1	CAA32870.1
other-genetic	DQ891338.2	ABM82264.1
other-genetic	DQ894520.2	ABM85446.1