Endometriosis Knowledgebase

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Gene id

4072

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

EPCAM Gene UCSC Ensembl

Aliases

DIAR5, EGP-2, EGP314, EGP40, ESA, HNPCC8, KS1/4, KSA, M4S1, MIC18, MK-1, TACSTD1, TROP1

Gene name

epithelial cell adhesion molecule

Alternate names

epithelial cell adhesion molecule, adenocarcinoma-associated antigen, cell surface glycoprotein Trop-1, epithelial glycoprotein 314, human epithelial glycoprotein-2, major gastrointestinal tumor-associated protein GA733-2, membrane component, chromosome 4, surf,

Gene location

2p21 (47369147: 47387027) Exons: 9 NC_000002.12

Gene summary(Entrez)

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]

OMIM

185535

Protein Summary

Protein general information

P16422

Name: Epithelial cell adhesion molecule (Ep CAM) (Adenocarcinoma associated antigen) (Cell surface glycoprotein Trop 1) (Epithelial cell surface antigen) (Epithelial glycoprotein) (EGP) (Epithelial glycoprotein 314) (EGP314) (hEGP314) (KS 1/4 antigen) (KSA) (Ma

Length: 314 Mass: 34,932

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 b

Sequence

MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICSKLAAKCLVMKAEMNG
SKLGRRAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVNTAGVRRTDKDTEITCSERVRTYWIIIELKH
KAREKPYDSKSLRTALQKEITTRYQLDPKFITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESL
FHSKKMDLTVNGEQLDLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKA
EIKEMGEMHRELNA

Structural information

Protein Domains	Thyroglobulin (63-135)
Interpro:	IPR000716
Prosite:	PS00484 PS51162
Pfam:	PF00086
PDB:	4MZV
PDBsum:	4MZV
MINT:	4999389
STRING:	ENSP00000263735;

Other Databases

GeneCards: EPCAM; Malacards: EPCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001657	ureteric bud development	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016328	lateral plasma membrane	IDA	cellular_component
GO:0023019	signal transduction invol ved in regulation of gene expression	IMP	biological_process
GO:0032403	protein complex binding	IDA	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048863	stem cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0098609	cell-cell adhesion	IEA	biological_process
GO:0098641	cadherin binding involved in cell-cell adhesion	IBA	molecular_function
GO:2000048	negative regulation of ce ll-cell adhesion mediated by cadherin	IDA	biological_process
GO:2000147	positive regulation of ce ll motility	IEA	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process
GO:0001657	ureteric bud development	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IEA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009986	cell surface	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IEA	cellular_component
GO:0016328	lateral plasma membrane	IDA	cellular_component
GO:0023019	signal transduction invol ved in regulation of gene expression	IMP	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0032403	protein complex binding	IDA	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048863	stem cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0098609	cell-cell adhesion	IEA	biological_process
GO:0098641	cadherin binding involved in cell-cell adhesion	IEA	molecular_function
GO:0098641	cadherin binding involved in cell-cell adhesion	IBA	molecular_function
GO:2000048	negative regulation of ce ll-cell adhesion mediated by cadherin	IDA	biological_process
GO:2000147	positive regulation of ce ll motility	IEA	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005923	bicellular tight junction	IDA	cellular_component
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0016323	basolateral plasma membra ne	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016328	lateral plasma membrane	IDA	cellular_component
GO:0023019	signal transduction invol ved in regulation of gene expression	IMP	biological_process
GO:0032403	protein complex binding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048863	stem cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0098641	cadherin binding involved in cell-cell adhesion	IBA	molecular_function
GO:2000048	negative regulation of ce ll-cell adhesion mediated by cadherin	IDA	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process

Diseases

Associated diseases	References
Colorectal cancer	OMIM: 185535
Endometriosis	PMID: 23639674
Endometriosis	INFBASE23639674

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
23639674	Endometrio sis			32 (13 endometr iosis lesions, 11 isolated end ometriotic-like cells (IELC)-p ositive pelvic sentinel lymph nodes (PSLN), 8 ELC-negative P SLN))		EPCAM CDH1 (E-cadherin) CXCR4 CD44	Show abstract
23332132	Endometrio sis			18 patients wit h endometriosis	Female infertility	CXCR4 EpCAM ER PR VEGF-A FR-? HIF-1?	Show abstract