• Gene id: 4072

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 (47369310: 47387019)     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 calciu
• 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: 34932
  • 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: (63..13-)
    (/note="Thyroglobulin-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00500"-)
  • Interpro: IPR041630  IPR000716  IPR036857  
  • Prosite: PS00484 PS51162
  • CDD: cd00191
  • PDB: 4MZV 6I07
  • PDBsum: 4MZV 6I07
  • STRING: ENSP00000263735
• Other Databases: GeneCards:  EPCAM  Malacards:  EPCAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0098641	cadherin binding involved in cell-cell adhesion	IBA	molecular function
GO:0016328	lateral plasma membrane	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:2000147	positive regulation of cell motility	IEA	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IEA	biological process
GO:0098641	cadherin binding involved in cell-cell adhesion	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0001657	ureteric bud development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0048863	stem cell differentiation	IMP	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IMP	biological process
GO:2000648	positive regulation of stem cell proliferation	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Mismatch repair deficiency	KEGG:H00876
Congenital diarrhea	KEGG:H01174
Mismatch repair deficiency	KEGG:H00876
hepatocellular carcinoma	PMID:24616575
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)