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

EPCAM Gene

protein-coding   GIFtS: 61
GCID: GC02P047572

epithelial cell adhesion molecule

(Previous names: antigen identified by monoclonal antibody AUA1, tumor-associated...)
(Previous symbols: M4S1, MIC18, TACSTD1)
 Explore 60 diseases affiliated with
EPCAM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EPCAM    

Aliases
for EPCAM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Epithelial Cell Adhesion Molecule1 2     17-1A1
M4S11 2 3 5     323/A31
MIC181 2 3 5     CD3261
TROP11 2 3 5     CO-17A1
Tumor-Associated Calcium Signal Transducer 11 2 3     EGP341
KSA1 2 3     HEA1251
TACSTD11 2 3     Ly741
EGP-21 2     MH991
EGP401 2     MOC311
ESA1 2     TACST-11
KS1/41 2     Antigen Identified By Monoclonal Antibody AUA11
MK-11 2     Human Epithelial Glycoprotein-22
Ep-CAM1 3     Membrane Component, Chromosome 4, Surface Marker (35kD Glycoprotein)2
GA733-21 3     EGP3
Adenocarcinoma-Associated Antigen2 3     M1S23
Cell Surface Glycoprotein Trop-12 3     CD326 Antigen3
Epithelial Glycoprotein 3142 3     Epithelial Cell Surface Antigen3
Major Gastrointestinal Tumor-Associated Protein GA733-22 3     Epithelial Glycoprotein3
EGP3142 3     HEGP3141
DIAR52 5     KS 1/4 Antigen3
HNPCC82 5     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


Summaries
for EPCAM gene

(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:
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)

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)


Genomic Views
for EPCAM 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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

Proteins
for EPCAM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Hyperglycosylated in carcinoma tissue as compared with autologous normal epithelia. Glycosylation at Asn-198 is crucial
    • for protein stability1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P16422

    • EPCAM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002345.2  
    ENSEMBL proteins: 
     ENSP00000385476   ENSP00000410675   ENSP00000263735   ENSP00000389028  

    Human Recombinant Protein Products: 
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    Novus Biologicals EPCAM Proteins
    Novus Biologicals EPCAM Lysates
    Sino Biological Recombinant Protein for EPCAM
    Browse ProSpec Recombinant Proteins
    Uscn 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 IDA19785009
    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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    R&D Systems Antibodies for EPCAM (EpCAM/TROP1)
    Cell Signaling Technology (CST) Antibodies for EPCAM 
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    Assay Products for EPCAM: 
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    Uscn ELISAs and CLIAs for EPCAM

    Protein Domains /
    Families
    for EPCAM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EPCAM for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000716 Thyroglobulin_1

    Graphical View of Domain Structure for InterPro Entry P16422

    ProtoNet protein and cluster: P16422

    1 Blocks protein family: IPB000716 Thyroglobulin type-1

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


    Function
    for EPCAM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    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 plasmid: EPCAM 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPCAM (see all 4)
    OriGene shRNA RFP: EPCAM
    OriGene siRNA: EPCAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPCAM

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EPCAM (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPCAM 

    Cell Line
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    Search LifeMap BioReagents cell lines for EPCAM

    In Situ Assay
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    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


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

    Animal Models:
         Mouse knock-out Epcamtm1.2Hmd for EPCAM
         11 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Epcam):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     no phenotypic analysis 

    EPCAM for phenotypes           About GeneDecksing


    Pathways & Interactions
    for EPCAM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00
    2Adhesion
    		Adhesion1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for EPCAM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for EPCAM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    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 plasmid: EPCAM 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPCAM (see all 4)
    OriGene shRNA RFP: EPCAM
    OriGene siRNA: EPCAM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPCAM
    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: EPCAM (NM_002354)
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    Primer
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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 cDNA 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):

    AW132100 BM851472 BM840132 AI494071 AW168044 AA424668 AW167961 BX280677 
    AI628538 CA942830 AI420818 CA841390 AU123914 NM_002354 AA160230 AI540630 
    AA847578 BM843988 BI438810 BQ778413 BM855259 BM772159 BE843159 AI978632 

    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

    Expression
    for EPCAM gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTTTGTTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EPCAM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudUreteric Bud Tip CellsKidney
    LungStem BronchiProximal Lung Epithelial CellsLung
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    BoneZeugopod PeriosteumBone
    Gut TubeMidgutGut Tube
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Hepatic progenitor cells (Functional hepatocyt...)

    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

    Primer
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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
    for EPCAM gene

    (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 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 54(a)
    		 1 ↔ 1
    		 1(254680473-254684418)
    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
    for EPCAM gene

    (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


    Genomic Variants
    for EPCAM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/506 NCBI SNPs in EPCAM are shown (see all 506)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs756017401,2
    		C,F,--47330888(+) TTTTTG/TTTTGT 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs75900821,2
    		C,--47331085(+) agagaC/Tggggt 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs728827541,2
    		C,F,--47331766(+) CTTTAG/ATGGAT 1 -- us2k14Minor allele frequency- A:0.10WA NA 242
    rs1137289741,2
    		--47331932(+) TTACTG/CTCCTT 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs38143591,2
    		C,F,H,--47332656(-) TGAAGC/ACTTGA 1 -- us2k19Minor allele frequency- A:0.02MN EA NS NA 1108
    rs782125721,2
    		C,F,--47332732(+) CAAAGA/GTCCCT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs755176551,2
    		F,--47333561(+) CCGAAC/ACGGTG 1 -- int11Minor allele frequency- A:0.14EA 120
    rs783283811,2
    		F,--47333640(+) GTGGCG/AGAGTC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs599278381,2
    		C,--47333878(+) AAAAAC/TATATA 1 -- int12Minor allele frequency- T:0.04WA 120
    rs574371581,2
    		C--47334043(+) GTTCAG/AGTGAT 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for EPCAM (47572297 - 47614740 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for EPCAM: --
    Human Gene Mutation Database (HGMD): EPCAM

    Locus Specific Mutation Databases (LSDB): EPCAM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EPCAM
    DNA2.0 Custom Variant and Variant Library Synthesis for EPCAM

    Disorders / Diseases
    for EPCAM gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EPCAM for disorders           About GeneDecksing

    OMIM gene information: 185535   
    OMIM disorders: 613217  613244  
    UniProtKB/Swiss-Prot: EPCAM_HUMAN, P16422
  • Defects in EPCAM are the cause of diarrhea 5, with tufting enteropathy, congenital (DIAR5) [MIM:613217]; also
    • known as congenital tufting enteropathy. It is 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
  • Defects in EPCAM are a cause of hereditary non-polyposis colorectal cancer type 8 (HNPCC8) [MIM:613244]. HNPCC
    • is a 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=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

    20/60 diseases for EPCAM (see all 60):    About MalaCards
    tufting enteropathy    diarrhea 5, with tufting enteropathy, congenital    carcinoma    adenocarcinoma
    clear cell renal cell carcinoma    chromophobe renal cell carcinoma    severe combined immunodeficiency    adenosquamous carcinoma
    renal cell carcinoma    cervical adenosquamous carcinoma    combined immunodeficiency    barrett's esophagus
    oral squamous cell carcinoma    merkel cell carcinoma    renal oncocytoma    squamous cell carcinoma
    benign mesothelioma    polycystic liver disease    diarrhea    lynch syndrome

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

    10/51 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: EPCAM (3 documents)

    Export disorders for EPCAM gene to outside databases

    Publications
    for EPCAM gene

    (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 333):
    (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)

    External Searches for EPCAM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing EPCAM gene

    (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

    Other Databases showing EPCAM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing EPCAM gene

    (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

    Intellectual Property
    for EPCAM gene

    (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:
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