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

    Gene ID: 4072, updated on 27-Jan-2020

    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
    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
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (47369311..47387020)
    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 Sharpr-MPRA regulatory region 1814 Neighboring gene RN7SK pseudogene 119 Neighboring gene microRNA 559 Neighboring gene mutS homolog 2 Neighboring gene potassium two pore domain channel subfamily K member 12 Neighboring gene MSH2 overlapping transcript 1 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 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

    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)
    trophoblast cell surface antigen 1
    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_002354.3NP_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
      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: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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