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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

55 related diseases
at

MalaCards

(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

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 OriGene Custom Protein Services 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IDA	15195135
GO:0005923	tight junction	IDA	16054130
GO:0009986	cell surface	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016323	basolateral plasma membrane	IDA	18025791

EPCAM for ontologies About GeneDecksing

EPCAM Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of EPCAM
	R&D Systems Antibodies for EPCAM (EpCAM/TROP1)
	Cell Signaling Technology (CST) Antibodies for EPCAM
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	GenScript Custom Superior Antibodies Services for EPCAM
	Novus Biologicals EPCAM Antibodies
	Abcam antibodies for EPCAM
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	ThermoFisher Antibody for EPCAM
	LSBio Antibodies in human, mouse, rat for EPCAM

Assay Products for EPCAM:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for EPCAM
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	GenScript Custom Assay Services for EPCAM
	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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, 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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16054130

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:
Mouse knock-out Epcam^tm1.2Hmd for EPCAM

inGenious Targeting Laboratory - Custom generated mouse model solutions for EPCAM

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

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPCAM
		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 RNAi products in human, mouse, rat for EPCAM
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPCAM
		Sirion Biotech Custom design and validation of potent shRNA sequences against EPCAM

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for EPCAM
			Sirion Biotech Customized adenovirus for overexpression of EPCAM Customized adenovirus for potent knockdown of EPCAM

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for EPCAM (see all 8) OriGene ORF clones in mouse, rat for EPCAM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EPCAM (NM_002354)
		Sino Biological Human cDNA Clone for EPCAM
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPCAM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPCAM

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EPCAM
		Search LifeMap BioReagents cell lines for EPCAM
		Sirion Biotech Customized stable knockdown cell line services for EPCAM Customized inducible knockdown cell line services for EPCAM Customized stable overexpressing cell line services for EPCAM Customized inducible overexpressing cell line services for EPCAM

In Situ Assay
Products:

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

SuperPath

Contained pathways About

Cytoskeletal Signaling

Cytoskeletal Signaling

Adhesion

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 Central^TM 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)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CFTR	P13569³, ENSP00000003084⁴	I2D: score=1 STRING: ENSP00000003084
CLDN7	O95471³, ENSP00000353475⁴	I2D: score=1 STRING: ENSP00000353475
ACTA1	P68133³	I2D: score=1
ACTR3	P61158³	I2D: score=1
ATP1A1	P05023³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001657	ureteric bud development	IEA	--
GO:0008284	positive regulation of cell proliferation	IDA	15195135

EPCAM for ontologies About GeneDecksing

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

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPCAM
		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 RNAi products in human, mouse, rat for EPCAM
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPCAM
		Sirion Biotech Custom design and validation of potent shRNA sequences against EPCAM

Clone Products:		OriGene clones in human, mouse for EPCAM (see all 8) OriGene ORF clones in mouse, rat for EPCAM OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: EPCAM (NM_002354)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPCAM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPCAM

Primer Products:		OriGene qPCR primer pairs and template standards for EPCAM OriGene qSTAR qPCR primer pairs in human, mouse for EPCAM
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EPCAM
		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

About this image

EPCAM expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/26 selected tissues (see all 26) fully expand


Kidney (Urinary System) fully expand to see all 7 entries
Ureteric Bud Cells Ureteric Bud
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 6 entries
sensory organ/nose/naso-lacrimal duct

Lung (Respiratory System) fully expand to see all 5 entries
Proximal Lung Epithelial Cells Stem Bronchi
Stem Bronchi
visceral organ/lung/right lung

Testis (Reproductive System) fully expand to see all 4 entries
XY Germ Cells Testis Cord
seminal vesicle ; glandular cells
visceral organ/testis/seminiferous cord

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 Products:		OriGene qPCR primer pairs and template standards for EPCAM OriGene qSTAR qPCR primer pairs in human, mouse for EPCAM
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EPCAM
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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	Epcam^{1 , 5}	epithelial cell adhesion molecule^{1, 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

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_063829⁴		Diarrhea 5, with tufting enteropathy, congenital (DIAR5)⁴	--	see VAR_063829	2	C Y	mis⁴		0	--	--	--	--
rs35590920^1,2	C,F	--	47461391(+)	`TTTTTT/-GTTTG`	1	--	us2k¹		2		NA CSA	4
rs75601740^1,2	C,F	--	47461398(+)	`TTTTTG/TTTTGT`	1	--	us2k¹		2		NA	4
rs185239459^1,2	C	--	47461414(+)	`TGTTTG/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs7590082^1,2	C,F	--	47461595(+)	`agagaC/Tggggt`	1	--	us2k¹		1		CSA	2
rs191225376^1,2		--	47461653(+)	`CCGCCC/TGCCTC`	1	--	us2k¹		0	--	--	--	--
rs183834499^1,2		--	47461696(+)	`GCCACC/TGTACC`	1	--	us2k¹		0	--	--	--	--
rs140727946^1,2		--	47461730(+)	`TACCAC/TGTGAA`	1	--	us2k¹		0	--	--	--	--
rs188897927^1,2		--	47461848(+)	`TAATAC/TAAACA`	1	--	us2k¹		0	--	--	--	--
rs78310336^1,2	C,F	--	47461996(+)	`GCAGCG/AGTTTG`	1	--	us2k¹		1		EA	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 ID	Type	Subtype	PubMed ID
nsv520660	CNV	Loss	19592680

Human Gene Mutation Database (HGMD): EPCAM

Locus Specific Mutation Databases (LSDB): EPCAM

SABiosciences Cancer Mutation PCR Assays

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(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

EPCAM for disorders           About GeneDecksing

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

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

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

Retroposition in a family of carcinoma-associated antigen genes. (PubMed id 8382772)^{1, 2, 3, 9} Linnenbach A.J.... Huebner K. (1993)
The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. (PubMed id 15195135)^{1, 2, 9} Munz M....Gires O. (2004)
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)
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)
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)
Identification of EpCAM as the gene for congenital tufting enteropathy. (PubMed id 18572020)^{1, 2, 9} Sivagnanam M....Hoffman H.M. (2008)
Glycosylation is crucial for stability of tumour and cancer stem cell antigen EpCAM. (PubMed id 18508581)^{1, 2, 9} Munz M....Gires O. (2008)
The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. (PubMed id 15922867)^{1, 2, 9} Munz M....Gires O. (2005)
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)
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

		AND	OR
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

Name	Description
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
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Patent Information for EPCAM gene:
Search GeneIP for patents involving EPCAM

GeneCards and IP:
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EPCAM Gene

Epithelial Cell Adhesion Molecule

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EPCAM (Gene Symbol)
Epithelial Cell Adhesion Molecule
M4S1
MIC18
Tumor-Associated Calcium Signal Transducer 1
TACSTD1
TROP1
Adenocarcinoma-Associated Antigen
Cell Surface Glycoprotein Trop-1
Epithelial Glycoprotein 314
Major Gastrointestinal Tumor-Associated Protein GA733-2
EGP314
KSA
DIAR5
HNPCC8
Antigen Identified By Monoclonal Antibody AUA1
EGP-2
EGP40
ESA
KS1/4
MK-1
Human Epithelial Glycoprotein-2
Membrane Component, Chromosome 4, Surface Marker (35kD Glycoprotein)
EGP
Ep-CAM
GA733-2
M1S2
CD326 Antigen
Epithelial Cell Surface Antigen
Epithelial Glycoprotein
hEGP314
KS 1/4 Antigen
ACSTD1

Gastric Cancer
BREAST CARCINOMA
Autoimmune Diseases
Melanoma
Colon Cancer
Renal Cancer
Retinoblastoma
dysplasia
Squamous Cell Cancer
Carcinoma
COLON CARCINOMA
LUNG CARCINOMA
epithelial tumor
METASTATIC CARCINOMA
Liver diseases
Breast Cancer
Metaplasia
primary tumor
NSCLC
Adenocarcinoma
HEPATOCELLULAR CARCINOMA
AIDS
BILIARY CIRRHOSIS PRIMARY
Cancer
Carcinoma Renal Cell
Pancreatic Cancer
Colorectal Carcinoma
malignant ascites
Cancer Lung
small cell lung cancer
ADENOCARCINOMA GASTRIC
Carcinoma Undifferentiated
Ovarian Cancer
CHOLANGITIS PRIMARY SCLEROSING
effusion
Ascites
Colorectal Cancer
HNSCC
OVARIAN CARCINOMA
solid tumor
Carcinoma Squamous Cell
Cysts
PANCREATIC CARCINOMA
prostate cancer
Tumors
Gastrointestinal carcinoma
Metastasis
Necrosis
Carcinoma Merkel Cell
breast cancer metastatic
COLON TUMOR

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EPCAM Gene

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