Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4072
Gene name Gene Name - the full gene name approved by the HGNC.
Epithelial cell adhesion molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPCAM
Synonyms (NCBI Gene) Gene synonyms aliases
Ber-Ep4, BerEp4, DIAR5, EGP-2, EGP314, EGP40, ESA, HNPCC8, KS1/4, KSA, LYNCH8, M4S1, MIC18, MK-1, MOC-31, TACSTD1, TROP1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez 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 calciu
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146480420 G>A,C Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, synonymous variant
rs267606785 G>A Pathogenic Coding sequence variant, missense variant
rs369992289 C>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs373597944 G>A,C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Splice acceptor variant
rs376155665 A>C,G,T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT966029 hsa-miR-103b CLIP-seq
MIRT966030 hsa-miR-1248 CLIP-seq
MIRT966031 hsa-miR-1289 CLIP-seq
MIRT966032 hsa-miR-1290 CLIP-seq
MIRT966033 hsa-miR-1297 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
DNMT1 Unknown 20940408
HDAC1 Unknown 20940408
NFKB1 Repression 11505407
RELA Repression 11505407
ZEB1 Repression 23667256
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001657 Process Ureteric bud development IEA
GO:0005515 Function Protein binding IPI 16054130, 32814053
GO:0005886 Component Plasma membrane IDA 15195135, 19785009
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 1729376
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
185535 11529 ENSG00000119888
Protein
UniProt ID P16422
Protein 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
Protein 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 infe
PDB 4MZV , 6I07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18635 EpCAM_N 29 61 Epithelial cell adhesion molecule N-terminal domain Domain
PF00086 Thyroglobulin_1 66 135 Thyroglobulin type-1 repeat Domain
Tissue specificity 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
MAPPQVLAFGLLLAAATATFAAAQEECVCENYKLAVNCFVNNNRQCQCTSVGAQNTVICS
K
LAAKCLVMKAEMNGSKLGRRAKPEGALQNNDGLYDPDCDESGLFKAKQCNGTSMCWCVN
TAGVRRTDKDTEITC
SERVRTYWIIIELKHKAREKPYDSKSLRTALQKEITTRYQLDPKF
ITSILYENNVITIDLVQNSSQKTQNDVDIADVAYYFEKDVKGESLFHSKKMDLTVNGEQL
DLDPGQTLIYYVDEKAPEFSMQGLKAGVIAVIVVVVIAVVAGIVVLVISRKKRMAKYEKA
EIKEMGEMHRELNA
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Virion - Hepatitis viruses   Cell surface interactions at the vascular wall
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Colorectal Neoplasms hereditary nonpolyposis colorectal neoplasms rs1558438591 N/A
gastric cancer Gastric cancer rs606231203, rs397514661 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Carcinoma hereditary breast carcinoma N/A N/A GenCC
Diabetes Severe insulin-deficient type 2 diabetes N/A N/A GWAS
Lynch syndrome Lynch syndrome 8, Lynch syndrome 1 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19443410, 20855955, 21415054, 22482828, 23348905, 23959111, 27432216, 32048177
Adenocarcinoma Stimulate 26687301
Adenocarcinoma of Lung Associate 19443410, 34731623
Adenoma Inhibit 22388758
Adenoma Oxyphilic Associate 17683191
Adenomyosis Associate 37019419
Aicardi Syndrome Associate 30389218
Ameloblastoma Associate 35975801
Ascites Associate 28679689, 36933411
Barrett Esophagus Associate 16473928, 18688077