EPCAM gene

GPTKB entity

Statements (55)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:ESA
gptkb:CD326
KS1/4
TACSTD1
GA733-2
gptkbp:associatedWith gptkb:Lynch_syndrome
gptkb:congenital_tufting_enteropathy
various carcinomas
gptkbp:clinicalTrialPhase immunohistochemistry
genetic testing for Lynch syndrome
gptkbp:discoveredBy L. Moldenhauer et al.
gptkbp:encodes EPCAM protein
gptkbp:Entrez_Gene_ID 4072
ENSG00000119888
gptkbp:expressedIn epithelial tissues
gptkbp:firstDescribed 1979
gptkbp:fullName epithelial cell adhesion molecule
gptkbp:function cell proliferation
differentiation
cell signaling
cell adhesion
gptkbp:HGNC_ID gptkb:EPCAM
https://www.w3.org/2000/01/rdf-schema#label EPCAM gene
gptkbp:interactsWith gptkb:CD44
gptkb:beta-catenin
gptkb:E-cadherin
claudins
gptkbp:length 314 amino acids
gptkbp:locatedOnChromosome 2
2p21
gptkbp:location gptkb:cell_membrane
basolateral membrane of epithelial cells
gptkbp:molecularWeight 35-40 kDa
gptkbp:mutationAssociatedWith loss of function causes congenital tufting enteropathy
deletion can cause Lynch syndrome
gptkbp:OMIM 185535
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn mouse EpCAM
rat EpCAM
zebrafish epcam
gptkbp:postTranslationalModification phosphorylation
glycosylation
gptkbp:product transmembrane glycoprotein
gptkbp:proteinFamily TACSTD family
gptkbp:regulates regulated by Wnt signaling
regulated by transcription factors
gptkbp:therapeuticAntibody catumaxomab
edrecolomab
gptkbp:UniProtID P16422
gptkbp:usedAs therapeutic target
cancer stem cell marker
diagnostic marker in carcinomas
gptkbp:bfsParent gptkb:CD326
gptkbp:bfsLayer 7