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Aliases for EPCAM Gene

Aliases for EPCAM Gene

  • Epithelial Cell Adhesion Molecule 2 3
  • Tumor-Associated Calcium Signal Transducer 1 2 3 4
  • MIC18 3 4 6
  • TROP1 3 4 6
  • M4S1 3 4 6
  • 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
  • HNPCC8 3 6
  • EGP314 3 4
  • DIAR5 3 6
  • 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
  • ACSTD1 6
  • Ep-CAM 4
  • 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 Cytoskeletal Signaling and Adhesion. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EPCAM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EPCAM Gene at MOPED

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 Lys303
  • Glycosylation at Asn74, Asn111, Thr171, Thr172, and Asn198
  • Modification sites at PhosphoSitePlus

Other Protein References for EPCAM Gene

Antibody Products

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

Protein Products

No data available for DME Specific Peptides for EPCAM Gene

Domains for EPCAM Gene

Gene Families for EPCAM Gene

HGNC:
  • CD :CD molecules

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 :
  • P16422
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
genes like me logo Genes that share ontologies with EPCAM: view
genes like me logo Genes that share phenotypes with EPCAM: view

Animal Models for EPCAM Gene

MGI Knock Outs for EPCAM:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPCAM

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for EPCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 15195135
GO:0005923 bicellular tight junction IDA 16054130
GO:0009986 cell surface IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 18025791
genes like me logo Genes that share ontologies with EPCAM: view

Pathways for EPCAM Gene

SuperPathways for EPCAM Gene

Superpath Contained pathways
1 Cytoskeletal Signaling
2 Adhesion
genes like me logo Genes that share pathways with EPCAM: view

Pathways by source for EPCAM Gene

2 Cell Signaling Technology pathways for EPCAM Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 15195135
GO:0048863 stem cell differentiation IMP 19785009
genes like me logo Genes that share ontologies with EPCAM: view

Compounds for EPCAM Gene

(8) Novoseek inferred chemical compound relationships for EPCAM Gene

Compound -log(P) Hits PubMed IDs
adecatumumab 90.1 7
edrecolomab 69.3 2
exotoxin-a 30.9 1
trastuzumab 29.7 2
paraffin 20.2 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EPCAM

Primer 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 for EPCAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (17.6), Small Intestine - Terminal Ileum (8.1), and Thyroid (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPCAM Gene

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 expressions with EPCAM: view

In Situ Assay Products

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 35
  • 98.85 (n)
  • 97.24 (a)
EPCAM 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPCAM 35
  • 86.84 (n)
  • 82.48 (a)
EPCAM 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPCAM 35
  • 85.63 (n)
  • 80.13 (a)
EPCAM 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epcam 35
  • 79.51 (n)
  • 81.53 (a)
Epcam 16
Epcam 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPCAM 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPCAM 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epcam 35
  • 79.3 (n)
  • 81.85 (a)
chicken
(Gallus gallus)
Aves EPCAM 35
  • 64.57 (n)
  • 58.39 (a)
EPCAM 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPCAM 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epcam 35
  • 61.45 (n)
  • 51.96 (a)
Str.6317 35
zebrafish
(Danio rerio)
Actinopterygii epcam 35
  • 54.15 (n)
  • 43.49 (a)
epcam 36
  • 38 (a)
OneToMany
Species with no ortholog for EPCAM:
  • 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

Selected 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 MAF
rs1421 -- 47,386,731(-) CAAAT(A/G)TATGA utr-variant-3-prime
rs1126497 - 47,373,967(+) CTCCA(C/T)GTGCT missense, reference
rs1126913 -- 47,386,910(+) CTTCC(A/C)CAGTA utr-variant-3-prime
rs1803881 -- 47,386,686(+) TGGGA(C/T)GAAGA utr-variant-3-prime
rs1803936 -- 47,379,854(+) AACTT(C/T)AATTT missense, reference

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

Variant ID Type Subtype PubMed ID
nsv520660 CNV Loss 19592680

Relevant External Links for EPCAM Gene

HapMap Linkage Disequilibrium report
EPCAM
Human Gene Mutation Database (HGMD)
EPCAM
Locus Specific Mutation Databases (LSDB)
EPCAM

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

Disorders for EPCAM Gene

(2) OMIM Diseases for EPCAM Gene (185535)

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.

(3) University of Copenhagen DISEASES for EPCAM Gene

(51) Novoseek inferred disease relationships for EPCAM Gene

Disease -log(P) Hits PubMed IDs
carcinoma 66.6 74
tumors 60 118
colorectal carcinoma 58.4 12
malignant ascites 57.8 3
cancer 52 51

Relevant External Links for EPCAM

Genetic Association Database (GAD)
EPCAM
Human Genome Epidemiology (HuGE) Navigator
EPCAM
genes like me logo Genes that share disorders with EPCAM: view

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 23
  2. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. (PMID: 15195135) Muenz M. … Gires O. (Oncogene 2004) 3 4 23
  3. The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7. (PMID: 16054130) Ladwein M. … Zoeller M. (Exp. Cell Res. 2005) 3 4 23
  4. Epithelial glycoprotein is a member of a family of epithelial cell surface antigens homologous to nidogen, a matrix adhesion protein. (PMID: 2108441) Simon B. … Brand S.J. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 23
  5. Determination of disulfide bond assignments and N-glycosylation sites of the human gastrointestinal carcinoma antigen GA733-2 (CO17-1A, EGP, KS1-4, KSA, and Ep-CAM). (PMID: 11080501) Chong J.M. … Speicher D.W. (J. Biol. Chem. 2001) 3 4 23

Products for EPCAM Gene

Sources for EPCAM Gene

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