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

Gene ID: 4072, updated on 16-Apr-2024

Summary

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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
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Genomic context

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See EPCAM in Genome Data Viewer
Location:
2p21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47369311..47387020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47374345..47392054)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47596450..47614159)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EPCAM divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15731 Neighboring gene Sharpr-MPRA regulatory region 12385 Neighboring gene Sharpr-MPRA regulatory region 1814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596083-47596759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596760-47597435 Neighboring gene brain cytoplasmic RNA 1 Neighboring gene RN7SK pseudogene 119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47630036-47630746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47630747-47631455 Neighboring gene microRNA 559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47653397-47653896 Neighboring gene mutS homolog 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47699841-47700005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47761774-47762289 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene MSH2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47796495-47797364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47798518-47799048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47799049-47799577 Neighboring gene Sharpr-MPRA regulatory region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891127-47891628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891629-47892128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47918101-47918767 Neighboring gene ribosomal protein L18a pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EpCAM (MOC-31) - immunohistochemical expression in papillary thyroid carcinoma and non invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Ben Rejeb S, et al. Tunis Med, 2021 Novembre. PMID 35288910, Free PMC Article
  2. EpCAM and microvascular obstruction in patients with STEMI: a cardiac magnetic resonance study. RĂ­os-Navarro C, et al. Rev Esp Cardiol (Engl Ed), 2022 May. PMID 34045168
  3. Expression of epithelial glycoprotein (EGP40) in oral epithelial dysplasia and oral squamous cell carcinoma (OSCC). Srichinthu KK, et al. Indian J Dent Res, 2020 Sep-Oct. PMID 33433512
  4. Clinicopathologic implications of epithelial cell adhesion molecule expression across molecular subtypes of breast carcinoma. Sundaram S, et al. J Cancer Res Ther, 2020 Oct-Dec. PMID 33342796
  5. Exosome EpCAM promotes the metastasis of glioma by targeting the CD44 signaling molecule on the surface of glioma cells. Gu Q, et al. Adv Clin Exp Med, 2020 Nov. PMID 33269813

See all (346) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. [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].
  5. 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.
  6. 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.
  7. 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.
  8. Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions.
    Title: Diagnostic Utility of Claudin4 and Comparison with BerEp4 as a Marker for Metastatic Adenocarcinoma in Serous Effusions.
  9. Clinicopathologic Impact of NANOG, ZEB1, and EpCAM Biomarkers on Prognosis of Serous Ovarian Carcinoma.
    Title: Clinicopathologic Impact of NANOG, ZEB1, and EpCAM Biomarkers on Prognosis of Serous Ovarian Carcinoma.
  10. The roles EpCAM plays to enhance the malignancy of gastric cancer.
    Title: The roles EpCAM plays to enhance the malignancy of gastric cancer.
Submit: New GeneRIF Correction See all GeneRIFs (316)

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • GA733-2

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 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

  1. NG_012352.2 RefSeqGene

    Range
    28986..46866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_215

mRNA and Protein(s)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    47369311..47387020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47374345..47392054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P16422.2 GenPept UniProtKB/Swiss-Prot:P16422

Gene LinkOut

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