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

Gene ID: 4072, updated on 1-Oct-2024

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; AllianceGenome:HGNC:11529
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; BerEp4; EGP314; HNPCC8; LYNCH8; MOC-31; Ber-Ep4; 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
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Genomic context

See EPCAM in Genome Data Viewer
Location:
2p21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47369311..47387020)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47374345..47392054)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47596450..47614159)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EPCAM divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15731 Neighboring gene Sharpr-MPRA regulatory region 12385 Neighboring gene Sharpr-MPRA regulatory region 1814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596083-47596759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47596760-47597435 Neighboring gene brain cytoplasmic RNA 1 Neighboring gene RN7SK pseudogene 119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15732 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:47630036-47630746 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47630747-47631455 Neighboring gene microRNA 559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47653397-47653896 Neighboring gene mutS homolog 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:47699841-47700005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47761774-47762289 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene MSH2 overlapping transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47796495-47797364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47798518-47799048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:47799049-47799577 Neighboring gene Sharpr-MPRA regulatory region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891127-47891628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:47891629-47892128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:47918101-47918767 Neighboring gene ribosomal protein L18a pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • GA733-2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cadherin binding involved in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)
trophoblast cell surface antigen 1
tumor-associated calcium signal transducer 1

NCBI Reference Sequences (RefSeq)

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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_002354.3NP_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
    Consensus CDS
    CCDS1833.1
    UniProtKB/Swiss-Prot
    P16422, P18180, Q6FG26, Q6FG49, Q96C47, Q9UCD0
    UniProtKB/TrEMBL
    B5MCA4
    Related
    ENSP00000263735.4, ENST00000263735.9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    47369311..47387020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47374345..47392054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)