EPCAM epithelial cell adhesion molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPCAMprovided by HGNC
Official Full Name: epithelial cell adhesion moleculeprovided by HGNC
Primary source: HGNC:HGNC:11529
See related: Ensembl:ENSG00000119888 MIM:185535; AllianceGenome:HGNC:11529
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; 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]
Expression: Biased expression in colon (RPKM 501.8), small intestine (RPKM 391.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (47369311..47387020)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (47374345..47392054)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (47596450..47614159)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WNT Oncogenic Transcription Requires MYC Suppression of Lysosomal Activity and EPCAM Stabilization in Gastric Tumors.
Title: WNT Oncogenic Transcription Requires MYC Suppression of Lysosomal Activity and EPCAM Stabilization in Gastric Tumors.
PARP-1, EpCAM, and FRalpha as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis.
Title: PARP-1, EpCAM, and FRα as potential targets for intraoperative detection and delineation of endometriosis: a quantitative tissue expression analysis.
Intracellular domain of epithelial cell adhesion molecule induces Wnt receptor transcription to promote colorectal cancer progression.
Title: Intracellular domain of epithelial cell adhesion molecule induces Wnt receptor transcription to promote colorectal cancer progression.
Immune evasion in lung metastasis of leiomyosarcoma: upregulation of EPCAM inhibits CD8[+] T cell infiltration.
Title: Immune evasion in lung metastasis of leiomyosarcoma: upregulation of EPCAM inhibits CD8(+) T cell infiltration.
Rab11 suppresses head and neck carcinoma by regulating EGFR and EpCAM exosome secretion.
Title: Rab11 suppresses head and neck carcinoma by regulating EGFR and EpCAM exosome secretion.
TLR4, IgA and EpCAM Expression in Colorectal Cancer and Their Possible Association with Microbiota as a Pathogenic Factor; An Immunohistochemical and Genetic Study.
Title: TLR4, IgA and EpCAM Expression in Colorectal Cancer and Their Possible Association with Microbiota as a Pathogenic Factor; An Immunohistochemical and Genetic Study.
[Expression of RACK1 and EGP40 in oral squamous cell carcinoma and its correlation with clinicopathological features and prognosis].
Title: [Expression of RACK1 and EGP40 in oral squamous cell carcinoma and its correlation with clinicopathological features and prognosis].
Extranodal Extension and Epithelial Cell Adhesion Molecule Over-expression in Oral Squamous Cell Carcinoma.
Title: Extranodal Extension and Epithelial Cell Adhesion Molecule Over-expression in Oral Squamous Cell Carcinoma.
Plasma-derived extracellular vesicle surface markers CD45, CD326 and CD56 correlate with the stage of osteoarthritis: a primary study of a novel and promising diagnostic tool of the disease.
Title: Plasma-derived extracellular vesicle surface markers CD45, CD326 and CD56 correlate with the stage of osteoarthritis: a primary study of a novel and promising diagnostic tool of the disease.
Cytosolic EpCAM cooperates with H-Ras to regulate epithelial to mesenchymal transition through ZEB1.
Title: Cytosolic EpCAM cooperates with H-Ras to regulate epithelial to mesenchymal transition through ZEB1.

Submit: New GeneRIF Correction See all GeneRIFs (319)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital diarrhea 5 with tufting enteropathy MedGen: C2750737 OMIM: 613217 GeneReviews: Not available	Compare labs
Lynch syndrome 8 MedGen: C2750471 OMIM: 613244 GeneReviews: Lynch Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67888 (e-PCR)
- UniSTS:1547

STS-N92767 (e-PCR)
- UniSTS:75378

RH65104 (e-PCR)
- UniSTS:87968

STS-M26481 (e-PCR)
- UniSTS:17612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding involved in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-cell adhesion mediated by cadherin	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction involved in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: epithelial cell adhesion molecule

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

NCBI Reference Sequences (RefSeq)

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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), LRG_215

mRNA and Protein(s)

NM_002354.3 → NP_002345.2 epithelial cell adhesion molecule precursor

See identical proteins and their annotated locations for NP_002345.2

Status: REVIEWED

Source sequence(s)

AW050533, BC014785, BP262680, DA963872

Consensus CDS

CCDS1833.1

UniProtKB/Swiss-Prot

P16422, P18180, Q6FG26, Q6FG49, Q96C47, Q9UCD0

UniProtKB/TrEMBL

B5MCA4

Related

ENSP00000263735.4, ENST00000263735.9

Conserved Domains (1) summary

cd00191
Location:65 → 125

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