EPCAM Gene

Aliases
for EPCAM gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC02P047425 GC02P047332

Summaries
for EPCAM gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000002.11  NC_018913.2  NT_022184.16  

SwitchGear Promoter luciferase reporter plasmids (see all 2): EPCAM promoter sequence

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

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


GeneLoc information about chromosome 2         GeneLoc Exon Structure

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

Proteins
for EPCAM gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for EPCAM: NX_P16422

Explore proteomics data for EPCAM at MOPED

Post-translational modifications: 

EPCAM Human Recombinant Protein Products:

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	antibodies-online proteins for EPCAM (17 products)
	antibodies-online peptides for EPCAM

EPCAM Antibody Products:

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EPCAM Assay Products:

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	antibodies-online kits for EPCAM (34 products)

Domains /
Families
for EPCAM gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P16422

Find genes that share domains with EPCAM           About GenesLikeMe

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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

(inferred from 6 alleles) (MGI details for Epcam)

genOway: Develop your customized and physiologically relevant rodent model for EPCAM

miRNA Products:		Block miRNA regulation of human, mouse, rat EPCAM using miScript Target Protectors
		4 qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for EPCAM
		Predesigned siRNA for gene silencing in human, mouse, rat EPCAM

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for EPCAM

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		GenScript: all cDNA clones in your preferred vector: EPCAM (NM_002354)
		Sino Biological Human cDNA Clone for EPCAM
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for EPCAM
		Browse ESI BIO Cell Lines and PureStem Progenitors for EPCAM

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPCAM

Flow Cytometry Products:

eBioscience FlowRNA Probe Sets ( VA1-12451 VA6-13003) for EPCAM

Localization
for EPCAM gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	5
extracellular	3
cytoskeleton	2
nucleus	2
endoplasmic reticulum	1

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Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

Pathways & Interactions
for EPCAM gene

(SuperPaths according to PathCards, Pathways according to 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 GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for EPCAM About     See pathways by source

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	SuperPath	Contained pathways About
1	Cytoskeletal Signaling	Cytoskeletal Signaling
2	Adhesion	Adhesion

2 Cell Signaling Technology (CST) Pathways for EPCAM

	Cytoskeletal Signaling
	Adhesion

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for EPCAM gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for EPCAM gene

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EPCAM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGTTTGTTAG

About this image

Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
Inner Cell Mass Cells Inner Cell Mass
hIPS1
Kidney (Urinary System)    fully expand to see all 4 entries
Ureteric Bud Cells Ureteric Bud
Metanephros
Eye (Sensory Organs)    fully expand to see all 3 entries
Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
Corneal Epithelium
Lung (Respiratory System)    fully expand to see all 3 entries
Proximal Lung Epithelial Cells Stem Bronchi
Stem Bronchi
Testis (Reproductive System)    fully expand to see all 2 entries
XY Germ Cells Testis Cord
Vas Deferens

Primer Products:		OriGene qPCR primer pairs and template standards for EPCAM OriGene qSTAR qPCR primer pairs in human, mouse for EPCAM
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EPCAM
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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)
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Paralogs
for EPCAM gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for EPCAM gene

TACSTD2²  

1 SIMAP similar gene for EPCAM using alignment to 3 protein entries:     EPCAM_HUMAN (see all proteins):

TACSTD2

Find genes that share paralogs with EPCAM           About GenesLikeMe


1 Pseudogenes.org Pseudogene for EPCAM
PGOHUM00000246150

Genomic Variants
for EPCAM gene

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for EPCAM (see all 622)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0638294		Diarrhea 5, with tufting enteropathy, congenital (DIAR5)4	--	see VAR_063829	2	C Y	mis4		0	--	--	--	--
rs355909201,2	C,F	--	47461391(+)	TTTTTT/-GTTTG	1	--	us2k1		2		NA CSA	4
rs756017401,2	C,F	--	47461398(+)	TTTTTG/TTTTGT	1	--	us2k1		2		NA	4
rs1852394591,2	C	--	47461414(+)	TGTTTG/TTTTTT	1	--	us2k1		0	--	--	--	--
rs75900821,2	C,F	--	47461595(+)	agagaC/Tggggt	1	--	us2k1		1		CSA	2
rs1912253761,2		--	47461653(+)	CCGCCC/TGCCTC	1	--	us2k1		0	--	--	--	--
rs1838344991,2		--	47461696(+)	GCCACC/TGTACC	1	--	us2k1		0	--	--	--	--
rs1407279461,2		--	47461730(+)	TACCAC/TGTGAA	1	--	us2k1		0	--	--	--	--
rs1888979271,2		--	47461848(+)	TAATAC/TAAACA	1	--	us2k1		0	--	--	--	--
rs783103361,2	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

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers 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, Sets of similar genes according to GenesLikeMe)
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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

15 diseases for EPCAM:    
About MalaCards

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

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)
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PubMed articles for EPCAM gene, integrated from 10 sources (see all 365): (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. (Mol. Cell. Biol. 1993)
2. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. (PubMed id 15195135)^{1, 2, 9} Muenz M.... Gires O. (Oncogene 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. (Nat. Genet. 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. (J. Biol. Chem. 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.... Zoeller M. (Exp. Cell Res. 2005)
6. Identification of EpCAM as the gene for congenital tufting enteropathy. (PubMed id 18572020)^{1, 2, 9} Sivagnanam M.... Hoffman H.M. (Gastroenterology 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. (Front. Biosci. 2008)
8. The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. (PubMed id 15922867)^{1, 2, 9} Muenz M.... Gires O. (Cancer Lett. 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. (Proc. Natl. Acad. Sci. U.S.A. 1990)
10. Molecular cloning of cDNA for the carcinoma-associated antigen GA733- 2. (PubMed id 2333300)^{1, 2, 9} Szala S.... Linnenbach A.J. (Proc. Natl. Acad. Sci. U.S.A. 1990)

External Searches for EPCAM gene

Genome Databases showing EPCAM gene

Other Databases showing EPCAM gene

Specialized Databases showing EPCAM gene

Products
for EPCAM gene

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Advanced Cell Diagnostics, Animal models from genOway)
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