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Aliases for EPCAM Gene

Aliases for EPCAM Gene

  • Epithelial Cell Adhesion Molecule 2 3 5
  • Tumor-Associated Calcium Signal Transducer 1 2 3 4
  • Major Gastrointestinal Tumor-Associated Protein GA733-2 3 4
  • Adenocarcinoma-Associated Antigen 3 4
  • Cell Surface Glycoprotein Trop-1 3 4
  • Epithelial Glycoprotein 314 3 4
  • TACSTD1 3 4
  • EGP314 3 4
  • MIC18 3 4
  • TROP1 3 4
  • M4S1 3 4
  • KSA 3 4
  • Membrane Component, Chromosome 4, Surface Marker (35kD Glycoprotein) 3
  • Antigen Identified By Monoclonal Antibody AUA1 2
  • Human Epithelial Glycoprotein-2 3
  • Epithelial Cell Surface Antigen 4
  • Epithelial Glycoprotein 4
  • KS 1/4 Antigen 4
  • CD326 Antigen 4
  • GA733-2 4
  • HEGP314 4
  • HNPCC8 3
  • Ep-CAM 4
  • DIAR5 3
  • EGP-2 3
  • EGP40 3
  • KS1/4 3
  • MK-1 3
  • M1S2 4
  • ESA 3
  • EGP 4

External Ids for EPCAM Gene

Previous HGNC Symbols for EPCAM Gene

  • M4S1
  • MIC18
  • TACSTD1

Previous GeneCards Identifiers for EPCAM Gene

  • GC02P047425
  • GC02P047572
  • GC02P047332

Summaries for EPCAM Gene

Entrez Gene Summary for EPCAM Gene

  • 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]

GeneCards Summary for EPCAM Gene

EPCAM (Epithelial Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with EPCAM include Diarrhea 5, With Tufting Enteropathy, Congenital and Colorectal Cancer, Hereditary Nonpolyposis, Type 8. Among its related pathways are Adhesion and Cell surface interactions at the vascular wall. GO annotations related to this gene include protein complex binding. An important paralog of this gene is TACSTD2.

UniProtKB/Swiss-Prot for EPCAM Gene

  • May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.

Gene Wiki entry for EPCAM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPCAM Gene

Genomics for EPCAM Gene

Regulatory Elements for EPCAM Gene

Enhancers for EPCAM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F047368 0.8 ENCODE 28.8 +26.0 26008 6.3 ZFP64 ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 GLIS2 KLF7 EPCAM ENSG00000226473 ENSG00000253515 TMEM247 MSH2 LOC101927043 GC02P047378 RN7SKP119
GH02F047353 1.3 Ensembl ENCODE 15.5 +12.7 12741 9.2 HDGF ATF1 ARID4B ZNF121 FOS SP5 REST PPARG KAT8 MEF2D MSH2 EPCAM RN7SKP119
GH02F047297 0.8 FANTOM5 Ensembl ENCODE 10.8 -45.5 -45458 4.2 ATF1 ELK1 KLF13 ZNF592 CREB3 MEF2D GLIS1 PBX2 NBN KDM1A LOC101927043 CALM2 EPCAM MIR559 KCNK12 PIR58315 PIR36995
GH02F047342 0.9 Ensembl ENCODE 9.9 -0.2 -197 5.0 MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 ZNF263 SP3 MSH2 EPCAM LOC100506235 BCYRN1 LOC101927043
GH02F047401 0.2 ENCODE 8.8 +58.1 58148 3.0 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 MSH2 EPCAM PIR36168
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EPCAM on UCSC Golden Path with GeneCards custom track

Genomic Location for EPCAM Gene

Chromosome:
2
Start:
47,345,158 bp from pter
End:
47,387,601 bp from pter
Size:
42,444 bases
Orientation:
Plus strand

Genomic View for EPCAM Gene

Genes around EPCAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPCAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPCAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPCAM Gene

Proteins for EPCAM Gene

  • Protein details for EPCAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16422-EPCAM_HUMAN
    Recommended name:
    Epithelial cell adhesion molecule
    Protein Accession:
    P16422
    Secondary Accessions:
    • P18180
    • Q6FG26
    • Q6FG49
    • Q96C47
    • Q9UCD0

    Protein attributes for EPCAM Gene

    Size:
    314 amino acids
    Molecular mass:
    34932 Da
    Quaternary structure:
    • Monomer. Interacts with phosphorylated CLDN7.

    Three dimensional structures from OCA and Proteopedia for EPCAM Gene

neXtProt entry for EPCAM Gene

Post-translational modifications for EPCAM Gene

  • Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial for protein stability.
  • Ubiquitination at Lys 303
  • Glycosylation at Asn 74, Asn 111, Thr 171, and Asn 198
  • Modification sites at PhosphoSitePlus

Other Protein References for EPCAM Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPCAM (EPCAM)

No data available for DME Specific Peptides for EPCAM Gene

Domains & Families for EPCAM Gene

Gene Families for EPCAM Gene

Protein Domains for EPCAM Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPCAM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16422

UniProtKB/Swiss-Prot:

EPCAM_HUMAN :
  • Contains 1 thyroglobulin type-1 domain.
  • Belongs to the EPCAM family.
Domain:
  • Contains 1 thyroglobulin type-1 domain.
Family:
  • Belongs to the EPCAM family.
genes like me logo Genes that share domains with EPCAM: view

Function for EPCAM Gene

Molecular function for EPCAM Gene

UniProtKB/Swiss-Prot Function:
May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.

Gene Ontology (GO) - Molecular Function for EPCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16054130
GO:0032403 protein complex binding IDA 19136966
GO:0098641 cadherin binding involved in cell-cell adhesion IBA --
genes like me logo Genes that share ontologies with EPCAM: view
genes like me logo Genes that share phenotypes with EPCAM: view

Human Phenotype Ontology for EPCAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPCAM Gene

MGI Knock Outs for EPCAM:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPCAM

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for EPCAM Gene

Localization for EPCAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPCAM Gene

Lateral cell membrane; Single-pass type I membrane protein. Cell junction, tight junction. Note=Colocalizes with CLDN7 at the lateral cell membrane and tight junction. {ECO:0000269 PubMed:16054130}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPCAM Gene COMPARTMENTS Subcellular localization image for EPCAM gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
cytoskeleton 2
chloroplast 1
cytosol 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for EPCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 15195135
GO:0005887 integral component of plasma membrane IBA --
GO:0005923 bicellular tight junction IDA 16054130
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EPCAM: view

Pathways & Interactions for EPCAM Gene

genes like me logo Genes that share pathways with EPCAM: view

Pathways by source for EPCAM Gene

Interacting Proteins for EPCAM Gene

Gene Ontology (GO) - Biological Process for EPCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA --
GO:0008284 positive regulation of cell proliferation IDA 15195135
GO:0023019 signal transduction involved in regulation of gene expression IMP 19136966
GO:0043066 negative regulation of apoptotic process IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 15195135
genes like me logo Genes that share ontologies with EPCAM: view

No data available for SIGNOR curated interactions for EPCAM Gene

Drugs & Compounds for EPCAM Gene

(10) Drugs for EPCAM Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ING-1 Investigational Pharma Target 0
oportuzumab monatox Investigational Pharma Target 0
Adecatumumab Pharma 0
Catumaxomab Pharma Antibody Others 0
IGN101 Pharma 0

(5) Additional Compounds for EPCAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPCAM: view

Transcripts for EPCAM Gene

Unigene Clusters for EPCAM Gene

Epithelial cell adhesion molecule:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPCAM Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2:
SP3: - - - -
SP4: -

Relevant External Links for EPCAM Gene

GeneLoc Exon Structure for
EPCAM
ECgene alternative splicing isoforms for
EPCAM

Expression for EPCAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPCAM Gene

mRNA differential expression in normal tissues according to GTEx for EPCAM Gene

This gene is overexpressed in Colon - Transverse (x17.6), Small Intestine - Terminal Ileum (x8.1), and Thyroid (x4.1).

Protein differential expression in normal tissues from HIPED for EPCAM Gene

This gene is overexpressed in Nasal epithelium (22.0), Rectum (10.4), and Fetal gut (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPCAM Gene



NURSA nuclear receptor signaling pathways regulating expression of EPCAM Gene:

EPCAM

SOURCE GeneReport for Unigene cluster for EPCAM Gene:

Hs.542050

mRNA Expression by UniProt/SwissProt for EPCAM Gene:

P16422-EPCAM_HUMAN
Tissue specificity: Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem cells (ESC). Levels rapidly diminish as soon as ESCs differentiate (at protein levels). Expressed in almost all epithelial cell membranes but not on mesodermal or neural cell membranes. Found on the surface of adenocarcinoma.
genes like me logo Genes that share expression patterns with EPCAM: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for EPCAM Gene

Orthologs for EPCAM Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPCAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPCAM 34 35
  • 98.85 (n)
cow
(Bos Taurus)
Mammalia EPCAM 34 35
  • 86.84 (n)
dog
(Canis familiaris)
Mammalia EPCAM 34 35
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Epcam 34 16 35
  • 79.51 (n)
rat
(Rattus norvegicus)
Mammalia Epcam 34
  • 79.3 (n)
oppossum
(Monodelphis domestica)
Mammalia EPCAM 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPCAM 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPCAM 34 35
  • 64.57 (n)
lizard
(Anolis carolinensis)
Reptilia EPCAM 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epcam 34
  • 61.45 (n)
Str.6317 34
zebrafish
(Danio rerio)
Actinopterygii epcam 34 35
  • 54.15 (n)
Species where no ortholog for EPCAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPCAM Gene

ENSEMBL:
Gene Tree for EPCAM (if available)
TreeFam:
Gene Tree for EPCAM (if available)

Paralogs for EPCAM Gene

Paralogs for EPCAM Gene

(1) SIMAP similar genes for EPCAM Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for EPCAM Gene

genes like me logo Genes that share paralogs with EPCAM: view

Variants for EPCAM Gene

Sequence variations from dbSNP and Humsavar for EPCAM Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs267606785 Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217], Pathogenic 47,373,820(+) CAAAT(A/G)TTTGG reference, missense
rs376155665 Pathogenic 47,378,939(+) ATTCA(A/C/G/T)TTTTT intron-variant
rs397514661 Pathogenic 47,374,035(+) CTGAG(A/C/T)GAGTG reference, synonymous-codon, stop-gained
rs606231203 Pathogenic 47,375,300(+) CGGAC(A/G/T)TAAGT splice-donor-variant
rs606231204 Pathogenic 47,377,021(+) ACTTC(-/C)AGAAG upstream-variant-2KB, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for EPCAM Gene

Variant ID Type Subtype PubMed ID
esv3583781 CNV loss 25503493
nsv1004828 CNV gain 25217958
nsv1009586 CNV gain 25217958
nsv520660 CNV loss 19592680
nsv999576 CNV gain 25217958

Variation tolerance for EPCAM Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.10; 90.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPCAM Gene

Human Gene Mutation Database (HGMD)
EPCAM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPCAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPCAM Gene

Disorders for EPCAM Gene

MalaCards: The human disease database

(32) MalaCards diseases for EPCAM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diarrhea 5, with tufting enteropathy, congenital
  • congenital diarrhea 5 with tufting enteropathy
colorectal cancer, hereditary nonpolyposis, type 8
  • hereditary non-polyposis colorectal cancer 8
lynch syndrome
  • coca 1
colorectal cancer, hereditary nonpolyposis, type 1
  • lynch syndrome
epcam-related lynch syndrome
  • epcam-related hereditary non-polyposis colon cancer
- elite association - COSMIC cancer census association via MalaCards
Search EPCAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPCAM_HUMAN
  • Diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217]: An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. {ECO:0000269 PubMed:18572020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary non-polyposis colorectal cancer 8 (HNPCC8) [MIM:613244]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:19098912}. Note=The disease is caused by mutations affecting the gene represented in this entry. HNPCC8 results from heterozygous deletion of 3-prime exons of EPCAM and intergenic regions directly upstream of MSH2, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.

Relevant External Links for EPCAM

Genetic Association Database (GAD)
EPCAM
Human Genome Epidemiology (HuGE) Navigator
EPCAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPCAM
genes like me logo Genes that share disorders with EPCAM: view

No data available for Genatlas for EPCAM Gene

Publications for EPCAM Gene

  1. Retroposition in a family of carcinoma-associated antigen genes. (PMID: 8382772) Linnenbach A.J. … Huebner K. (Mol. Cell. Biol. 1993) 2 3 4 22 64
  2. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. (PMID: 19098912) Ligtenberg M.J. … Hoogerbrugge N. (Nat. Genet. 2009) 3 4 22 64
  3. Identification of EpCAM as the gene for congenital tufting enteropathy. (PMID: 18572020) Sivagnanam M. … Hoffman H.M. (Gastroenterology 2008) 3 4 22 64
  4. Glycosylation is crucial for stability of tumour and cancer stem cell antigen EpCAM. (PMID: 18508581) Munz M. … Gires O. (Front. Biosci. 2008) 3 4 22 64
  5. The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. (PMID: 15922867) Muenz M. … Gires O. (Cancer Lett. 2005) 3 4 22 64

Products for EPCAM Gene

Sources for EPCAM Gene

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