EPCAM

Protein identityUniProt · HPA

UniProt accession

P16422

Gene

EPCAM

Ensembl

ENSG00000119888

Chromosome

2

Canonical length

314 aa

Protein class

Cancer-related genes, CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>P16422|EPCAM
     1  MAPPQVLAFG LLLAAATATF AAAQEECVCE NYKLAVNCFV NNNRQCQCTS VGAQNTVICS
    61  KLAAKCLVMK AEMNGSKLGR RAKPEGALQN NDGLYDPDCD ESGLFKAKQC NGTSMCWCVN
   121  TAGVRRTDKD TEITCSERVR TYWIIIELKH KAREKPYDSK SLRTALQKEI TTRYQLDPKF
   181  ITSILYENNV ITIDLVQNSS QKTQNDVDIA DVAYYFEKDV KGESLFHSKK MDLTVNGEQL
   241  DLDPGQTLIY YVDEKAPEFS MQGLKAGVIA VIVVVVIAVV AGIVVLVISR KKRMAKYEKA
   301  EIKEMGEMHR ELNA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPCAM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

756 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPCAM.

Disease | AllUniProt

Conditions EPCAM is implicated in, by any mechanism.

• Diarrhea 5, with tufting enteropathy, congenital (DIAR5) MIM:613217
• Lynch syndrome 8 (LYNCH8) MIM:613244

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 1,014 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary nonpolyposis colorectal neoplasms
• Congenital diarrhea 5 with tufting enteropathy
• Gastric cancer
• Lynch syndrome 8
• Lynch syndrome

Disease | ImmuneIEDB

Conditions an epitope on EPCAM was assayed in.

• colon adenocarcinoma T cell
• type 1 diabetes mellitus T cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against EPCAM are reported. Each links to that disease's full target list.

Showing 0 of 1 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for EPCAM from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.16

gnomAD pLI

0

gnomAD missense Z

-1.43

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of cell-cell adhesion mediated by cadherin
• positive regulation of cell population proliferation
• positive regulation of stem cell proliferation
• positive regulation of transcription by RNA polymerase II
• signal transduction involved in regulation of gene expression
• stem cell differentiation
• ureteric bud development

Molecular functions

• cadherin binding involved in cell-cell adhesion
• protein-containing complex binding

Cellular components

• apical plasma membrane
• basolateral plasma membrane
• bicellular tight junction
• cell surface
• extracellular exosome
• lateral plasma membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Thyroglobulin type-1
• Thyroglobulin type-1 superfamily
• Epithelial cell adhesion molecule N-terminal domain
• Transmembrane glycoprotein EPCAM/Trop-2
• EPCAM/Trop-2, C-terminal
• Thyroglobulin type-1 repeat
• Epithelial cell adhesion molecule, N-terminal domain
• EPCAM/Trop-2, C-terminal

KeywordsUniProt

• Cell junction
• Cell membrane
• Disulfide bond
• Glycoprotein
• Hereditary nonpolyposis colorectal cancer
• Membrane
• Repeat
• Signal
• Tight junction
• Transmembrane
• Transmembrane helix
• Tumor antigen

InteractionsUniProt · HPA

Protein binding partners of EPCAM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CLDN7