Gene Gene information from NCBI Gene database.
Entrez ID 4072
Gene name Epithelial cell adhesion molecule
Gene symbol EPCAM
Synonyms (NCBI Gene)
Ber-Ep4BerEp4DIAR5EGP-2EGP314EGP40ESAHNPCC8KS1/4KSALYNCH8M4S1MIC18MK-1MOC-31TACSTD1TROP1
Chromosome 2
Chromosome location 2p21
Summary 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.
14
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.
123
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 factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
DNMT1 Unknown 20940408
HDAC1 Unknown 20940408
NFKB1 Repression 11505407
RELA Repression 11505407
ZEB1 Repression 23667256
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
185535 11529 ENSG00000119888
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
688
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Pathogenic rs2103756948, rs2103768437 RCV001354914
RCV001356897
Colon adenocarcinoma Pathogenic rs606231203 RCV005887487
Colonic neoplasm Pathogenic rs751264236 RCV001648492
Congenital diarrhea 5 with tufting enteropathy Likely pathogenic; Pathogenic rs376155665, rs606231281, rs606231203, rs267606785, rs606231204, rs1553342984, rs397514661, rs1324088403, rs747738988, rs987919056 RCV000763487
RCV000144937
RCV000013609
RCV000013611
RCV000013612
RCV000578221
RCV000033250
RCV000984490
RCV001250162
RCV001250163
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs138718438 RCV005890773
Astrocytoma IDH-mutant Uncertain significance rs1416156972 RCV003314729
Cervical cancer Benign rs114241106 RCV005890775
Familial pancreatic carcinoma Benign rs114241106 RCV005890776
Associations from Text MiningDisease 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