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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPCAM Gene

protein-coding   GIFtS: 64
GCID: GC02P047572

Epithelial Cell Adhesion Molecule

(Previous names: antigen identified by monoclonal antibody AUA1, tumor-associated...)
(Previous symbols: M4S1, MIC18, TACSTD1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Epithelial Cell Adhesion Molecule1 2     EGP402
M4S11 2 3 5     ESA2
MIC181 2 3 5     KS1/42
Tumor-Associated Calcium Signal Transducer 11 2 3     MK-12
TACSTD11 2 3     Human Epithelial Glycoprotein-22
TROP12 3 5     Membrane Component, Chromosome 4, Surface Marker (35kD Glycoprotein)2
Adenocarcinoma-Associated Antigen2 3     EGP3
Cell Surface Glycoprotein Trop-12 3     Ep-CAM3
Epithelial Glycoprotein 3142 3     GA733-23
Major Gastrointestinal Tumor-Associated Protein GA733-22 3     M1S23
EGP3142 3     CD326 Antigen3
KSA2 3     Epithelial Cell Surface Antigen3
DIAR52 5     Epithelial Glycoprotein3
HNPCC82 5     hEGP3143
Antigen Identified By Monoclonal Antibody AUA11     KS 1/4 Antigen3
EGP-22     ACSTD15

External Ids:    HGNC: 115291   Entrez Gene: 40722   Ensembl: ENSG000001198887   OMIM: 1855355   UniProtKB: P164223   

Export aliases for EPCAM gene to outside databases

Previous GC identifers: GC02P047425 GC02P047332


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 adenocarcinoma, and tufting enteropathy. GO annotations related to this gene include protein binding. An important paralog of this gene is TACSTD2.

UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422
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 Wiki entry for EPCAM (Epithelial cell adhesion molecule) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPCAM gene promoter:
         POU3F1   Lmo2   XBP-1   Nkx5-1   E47   c-Ets-1   FOXO4   Sox9   LyF-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EPCAM promoter sequence
   Search SABiosciences Chromatin IP Primers for EPCAM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPCAM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

EPCAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPCAM gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P047572:  view genomic region     (about GC identifiers)

Start:
47,572,297 bp from pter      End:
47,614,740 bp from pter
Size:
42,444 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422 (See protein sequence)
Recommended Name: Epithelial cell adhesion molecule precursor  
Size: 314 amino acids; 34932 Da
Subunit: Monomer. Interacts with phosphorylated CLDN7
Subcellular location: Lateral cell membrane; Single-pass type I membrane protein. Cell junction, tight junction.
Note=Co-localizes with CLDN7 at the lateral cell membrane and tight junction
Secondary accessions: P18180 Q6FG26 Q6FG49 Q96C47 Q9UCD0

Explore the universe of human proteins at neXtProt for EPCAM: NX_P16422

Explore proteomics data for EPCAM at MOPED 

Post-translational modifications:

  • UniProtKB: Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is
    crucial for protein stability
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16422

  • EPCAM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPCAM Protein Expression
    REFSEQ proteins: NP_002345.2  
    ENSEMBL proteins: 
     ENSP00000385476   ENSP00000410675   ENSP00000263735   ENSP00000389028  

    Human Recombinant Protein Products for EPCAM: 
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    OriGene Purified Protein for EPCAM
    OriGene Protein Over-expression Lysate for EPCAM
    OriGene MassSpec for EPCAM 
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    Novus Biologicals EPCAM Proteins
    Novus Biologicals EPCAM Lysates
    Sino Biological Recombinant Protein for EPCAM
    Sino Biological Cell Lysate for EPCAM 
    ProSpec Recombinant Protein for EPCAM
    Cloud-Clone Corp. Proteins for EPCAM 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA15195135
    GO:0005923tight junction IDA16054130
    GO:0009986cell surface IEA--
    GO:0016021integral to membrane IEA--
    GO:0016323basolateral plasma membrane IDA18025791

    EPCAM for ontologies           About GeneDecksing



    EPCAM Antibody Products: 
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    ThermoFisher Antibody for EPCAM
    LSBio Antibodies in human, mouse, rat for EPCAM 

    Assay Products for EPCAM: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPCAM 
    Cloud-Clone Corp. CLIAs for EPCAM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    1 InterPro protein domain:
     IPR000716 Thyroglobulin_1

    Graphical View of Domain Structure for InterPro Entry P16422

    ProtoNet protein and cluster: P16422

    1 Blocks protein domain: IPB000716 Thyroglobulin type-1

    UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422
    Similarity: Belongs to the EPCAM family
    Similarity: Contains 1 thyroglobulin type-1 domain


    EPCAM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EPCAM_HUMAN, P16422
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16054130
         
    EPCAM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EPCAM:
     Decreased focal adhesion (FA)  

         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Epcam):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  no phenotypic analysis 

    EPCAM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epcamtm1.2Hmd for EPCAM

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPCAM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPCAM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPCAM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPCAM 

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    hsa-miR-33a* hsa-miR-498 hsa-miR-4307 hsa-miR-4318
    SwitchGear 3'UTR luciferase reporter plasmidEPCAM 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Sino Biological Human cDNA Clone for EPCAM
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                         Customized lentivirus expression plasmids for stable overexpression of EPCAM 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPCAM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EPCAM About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeletal Signaling
    Cytoskeletal Signaling
    2Adhesion
    Adhesion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for EPCAM
        Cytoskeletal Signaling
    Adhesion




    EPCAM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPCAM

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for EPCAM (P164223 ENSP000002637354) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=1 STRING: ENSP00000003084
    CLDN7O954713, ENSP000003534754I2D: score=1 STRING: ENSP00000353475
    ACTA1P681333I2D: score=1 
    ACTR3P611583I2D: score=1 
    ATP1A1P050233I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development IEA--
    GO:0008284positive regulation of cell proliferation IDA15195135

    EPCAM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPCAM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPCAM

    8 Novoseek inferred chemical compound relationships for EPCAM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adecatumumab 90.1 10 19633042 (3), 20053761 (2), 16937114 (1), 16102830 (1)
    edrecolomab 69.3 3 17125516 (1), 10632331 (1)
    exotoxin-a 30.9 1 11093823 (1)
    trastuzumab 29.7 3 15655555 (1), 16102830 (1)
    paraffin 20.2 2 16473928 (1), 17418618 (1)
    5fluorouracil 7.42 2 9139849 (1), 11167991 (1)
    thymidine 0 1 16034560 (1)
    p003 0 1 17361206 (1)

    Search CenterWatch for drugs/clinical trials and news about EPCAM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EPCAM gene: 
    NM_002354.2  

    Unigene Cluster for EPCAM:

    Epithelial cell adhesion molecule
    Hs.542050  [show with all ESTs]
    Unigene Representative Sequence: NM_002354
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405271 ENST00000456133 ENST00000263735(uc002rvx.3) ENST00000474691
    ENST00000419334 ENST00000490733
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate EPCAM:
    hsa-miR-33a* hsa-miR-498 hsa-miR-4307 hsa-miR-4318
    SwitchGear 3'UTR luciferase reporter plasmidEPCAM 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPCAM
    Sirion Biotech Customized lentivirus for stable overexpression of EPCAM 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPCAM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPCAM

    Additional mRNA sequence: 

    AK026585.1 BC014785.1 CR542259.1 CR542283.1 M26481.1 M32306.1 M32325.1 M33011.1 
    X14758.1 

    13 DOTS entries:

    DT.87014014  DT.218154  DT.100824777  DT.100824778  DT.95197888  DT.100824775  DT.91770051  DT.95306990 
    DT.91866556  DT.100807173  DT.87016265  DT.120994666  DT.40235087 

    24/435 AceView cDNA sequences (see all 435):

    CR626162 AI718512 W37704 W39707 AI494071 CA942830 BX280677 BM985173 
    AA160230 BM821872 BM772159 BM821420 BG292290 CR593061 CB123754 BC014785 
    CB134311 BM751257 AL047838 CB132320 BM848520 BQ778448 BE843159 CR542283 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for EPCAM    About this scheme

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


    ECgene alternative splicing isoforms for EPCAM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPCAM expression in normal human tissues (normalized intensities)      EPCAM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTTGTTAG
    EPCAM Expression
    About this image


    EPCAM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 13 entries
             Inner Cell Mass Cells Inner Cell Mass
             hIPS1
             ESI-049   
     
     Kidney (Urinary System)    fully expand to see all 7 entries
             Metanephros
             kidney ; cells in tubules   
             visceral organ/metanephros/renal cortex   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 7 entries
             Ureter
             visceral organ   
     
     Nose (Sensory Organs)    fully expand to see all 7 entries
             sensory organ/nose/naso-lacrimal duct   
     
     Lung (Respiratory System)    fully expand to see all 6 entries
             Proximal Lung Epithelial Cells Stem Bronchi
             Stem Bronchi
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
             visceral organ/lung/right lung   

    See EPCAM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPCAM

    SOURCE GeneReport for Unigene cluster: Hs.542050

    UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422
    Tissue specificity: Highly and selectively expressed by undifferentiated rather than differentiated embryonic stem
    cells (ESC). Levels rapidly diminish as soon as ESC's 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

        SABiosciences Expression via Pathway-Focused PCR Array including EPCAM: 
              Cell Surface Markers in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPCAM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPCAM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EPCAM gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epcam1 , 5 epithelial cell adhesion molecule1, 5 79.51(n)1
    81.53(a)1
      17 (57.87 cM)5
    170751  NM_008532.21  NP_032558.21 
     876359795 
    chicken
    (Gallus gallus)
    Aves EPCAM1 epithelial cell adhesion molecule 64.52(n)
    59.32(a)
      421292  NM_001012564.1  NP_001012582.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPCAM6
    Uncharacterized protein
    52(a)
    1 ↔ 1
    1(254680473-254685482)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY166594.12   -- 74.76(n)    AY166594.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epcam1 epithelial cell adhesion molecule 54.34(n)
    43.31(a)
      406454  NM_213175.1  NP_998340.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPCAM gene
    TACSTD22  
    1 SIMAP similar gene for EPCAM using alignment to 3 protein entries:     EPCAM_HUMAN (see all proteins):
    TACSTD2

    EPCAM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for EPCAM
    PGOHUM00000246150


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/622 SNPs in EPCAM are shown (see all 622)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638294
    Diarrhea 5, with tufting enteropathy, congenital (DIAR5)4--see VAR_0638292 C Y mis40--------
    rs355909201,2
    C,F--47461391(+) TTTTTT/-GTTTG 1 -- us2k12Minor allele frequency- -:0.50NA CSA 4
    rs756017401,2
    C,F--47461398(+) TTTTTG/TTTTGT 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1852394591,2
    C--47461414(+) TGTTTG/TTTTTT 1 -- us2k10--------
    rs75900821,2
    C,F--47461595(+) agagaC/Tggggt 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1912253761,2
    --47461653(+) CCGCCC/TGCCTC 1 -- us2k10--------
    rs1838344991,2
    --47461696(+) GCCACC/TGTACC 1 -- us2k10--------
    rs1407279461,2
    --47461730(+) TACCAC/TGTGAA 1 -- us2k10--------
    rs1888979271,2
    --47461848(+) TAATAC/TAAACA 1 -- us2k10--------
    rs783103361,2
    C,F--47461996(+) GCAGCG/AGTTTG 1 -- us2k11Minor allele frequency- A:0.07EA 120

    HapMap Linkage Disequilibrium report for EPCAM (47572297 - 47614740 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for EPCAM:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv520660CNV Loss19592680


    Human Gene Mutation Database (HGMD): EPCAM

    Locus Specific Mutation Databases (LSDB): EPCAM
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EPCAM
    DNA2.0 Custom Variant and Variant Library Synthesis for EPCAM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 185535   
    OMIM disorders: 613217  613244  
    UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422
  • 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. 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. 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

  • 20/55 diseases for EPCAM (see all 55):    About MalaCards
    adenocarcinoma    tufting enteropathy    adenosquamous carcinoma    cervical adenosquamous carcinoma
    epcam-related lynch syndrome    intractable diarrhea of infancy    diarrhea 5, with tufting enteropathy, congenital    benign mesothelioma
    lynch syndrome    renal oncocytoma    polycystic liver disease    chromophobe renal cell carcinoma
    tongue cancer    diarrhea    merkel cell carcinoma    craniopharyngioma
    renal cell carcinoma    noma    colorectal cancer    clear cell renal cell carcinoma

    3 diseases from the University of Copenhagen DISEASES database for EPCAM:
    Carcinoma     Colorectal cancer     Breast cancer

    EPCAM for disorders           About GeneDecksing

    10/51 Novoseek inferred disease relationships for EPCAM gene (see all 51)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma 66.6 92 17586680 (5), 17683191 (4), 17600130 (3), 18508581 (2) (see all 57)
    tumors 60 157 17361206 (5), 11948467 (4), 15557427 (4), 17213811 (4) (see all 80)
    colorectal carcinoma 58.4 14 17361206 (3), 15570423 (2), 12673686 (1), 7539133 (1) (see all 9)
    malignant ascites 57.8 3 19443405 (1), 17410361 (1), 17900673 (1)
    cancer 52 71 16775119 (6), 17211480 (3), 17213811 (3), 17069841 (2) (see all 37)
    gastrointestinal carcinoma 49.4 6 11080501 (1), 16034560 (1), 10811480 (1)
    colorectal cancer 46.7 24 15816554 (3), 20135722 (2), 14741172 (2), 16034560 (2) (see all 10)
    adenocarcinoma 45.3 26 19443410 (6), 15569986 (2), 15637741 (2), 15955212 (2) (see all 16)
    ovarian carcinoma 44.8 14 19574774 (6), 17900673 (2), 15297969 (1), 7842256 (1) (see all 6)
    colon carcinoma 44.3 5 16971804 (1), 16404366 (1), 15637741 (1)

    Genetic Association Database (GAD): EPCAM
    Human Genome Epidemiology (HuGE) Navigator: EPCAM (3 documents)

    Export disorders for EPCAM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EPCAM gene, integrated from 9 sources (see all 350):
    (articles sorted by number of sources associating them with EPCAM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Retroposition in a family of carcinoma-associated antigen genes. (PubMed id 8382772)1, 2, 3, 9 Linnenbach A.J.... Huebner K. (1993)
    2. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. (PubMed id 15195135)1, 2, 9 Munz M....Gires O. (2004)
    3. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. (PubMed id 19098912)1, 2, 9 Ligtenberg M.J....Hoogerbrugge N. (2009)
    4. 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). (PubMed id 11080501)1, 2, 9 Chong J.M. and Speicher D.W. (2001)
    5. The cell-cell adhesion molecule EpCAM interacts directly with the tight junction protein claudin-7. (PubMed id 16054130)1, 2, 9 Ladwein M....Zoller M. (2005)
    6. Identification of EpCAM as the gene for congenital tufting enteropathy. (PubMed id 18572020)1, 2, 9 Sivagnanam M....Hoffman H.M. (2008)
    7. Glycosylation is crucial for stability of tumour and cancer stem cell antigen EpCAM. (PubMed id 18508581)1, 2, 9 Munz M....Gires O. (2008)
    8. The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. (PubMed id 15922867)1, 2, 9 Munz M....Gires O. (2005)
    9. Epithelial glycoprotein is a member of a family of epithelial cell surface antigens homologous to nidogen, a matrix adhesion protein. (PubMed id 2108441)1, 2, 9 Simon B.... Brand S.J. (1990)
    10. Molecular cloning of cDNA for the carcinoma-associated antigen GA733- 2. (PubMed id 2333300)1, 2, 9 Szala S.... Linnenbach A.J. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4072 HGNC: 11529 AceView: TACSTD1 Ensembl:ENSG00000119888 euGenes: HUgn4072
    ECgene: EPCAM H-InvDB: EPCAM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPCAM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPCAM Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPCAM gene:
    Search GeneIP for patents involving EPCAM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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