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EPCAM epithelial cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 4072, updated on 2-Oct-2018

Summary

Official Symbol
EPCAMprovided by HGNC
Official Full Name
epithelial cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:11529
See related
Ensembl:ENSG00000119888 MIM:185535; Vega:OTTHUMG00000128853
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ESA; KSA; M4S1; MK-1; DIAR5; EGP-2; EGP40; KS1/4; MIC18; TROP1; EGP314; HNPCC8; TACSTD1
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 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]
Expression
Biased expression in colon (RPKM 501.8), small intestine (RPKM 391.0) and 9 other tissues See more
Orthologs

Genomic context

See EPCAM in Genome Data Viewer
Location:
2p21
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (47369148..47387028)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47596287..47614167)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EPCAM divergent transcript Neighboring gene brain cytoplasmic RNA 1 Neighboring gene RNA, 7SK small nuclear pseudogene 119 Neighboring gene microRNA 559 Neighboring gene mutS homolog 2 Neighboring gene uncharacterized LOC644093 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene ribosomal protein L18a pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • GA733-2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding involved in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
epithelial cell adhesion molecule
Names
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, surface marker (35kD glycoprotein)
tumor-associated calcium signal transducer 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012352.2 RefSeqGene

    Range
    28986..46866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_215

mRNA and Protein(s)

  1. NM_002354.2NP_002345.2  epithelial cell adhesion molecule precursor

    See identical proteins and their annotated locations for NP_002345.2

    Status: REVIEWED

    Source sequence(s)
    AW050533, BC014785, BP262680, DA963872, DB044092
    Consensus CDS
    CCDS1833.1
    UniProtKB/Swiss-Prot
    P16422
    Related
    ENSP00000263735.4, OTTHUMP00000159073, ENST00000263735.8, OTTHUMT00000250792
    Conserved Domains (1) summary
    cd00191
    Location:65125
    TY; Thyroglobulin type I repeats.; The N-terminal region of human thyroglobulin contains 11 type-1 repeats TY repeats are proposed to be inhibitors of cysteine proteases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    47369148..47387028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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