EPCAM
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EPCAM (HGNC:11529) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
epithelial cell adhesion molecule
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
M4S1, MIC18, TACSTD1
Alias symbols
Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, MOC-31, 323/A3, 17-1A, TACST-1, CO-17A, ESA, BerEp4, Ber-Ep4
%HI
60.55(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.34(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:47596450-47614159 NCBI Ensembl UCSC
GRCh38/hg38: chr2:47369311-47387020 NCBI Ensembl UCSC
MANE Select Transcript
NM_002354.3 ENST00000263735.9 (Read more about MANE Select)
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 infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E. {ECO:0000269|PubMed:15195135, ECO:0000269|PubMed:15922867, ECO:0000269|PubMed:19785009, ECO:0000269|PubMed:200649... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3226
ClinGen Curation ID:
CCID:007075
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/08/2019

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital diarrhea 5 with tufting enteropathy Monarch
HI Evidence Comments:
While deletions in the 3' end of EPCAM (typically exons 8 and 9 as well as intergenic material between EPCAM and MSH2) are associated with Lynch Syndrome cancers, this is due to epigenetic regulation of nearby MSH2 and the methylation status of MSH2 promoter. There is little to no evidence that EPCAM haploinsufficiency by deletions or truncations in the 5' end of EPCAM and otherwise not affecting MSH2 have any resulting impact on Lynch Syndrome cancers or other cancer phenotypes. Thus, EPCAM is not itself a dosage sensitive gene. In addition, biallelic (autosomal recessive) mutations in EPCAM are associated with DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)