Epithelial Cellular Adhesion Molecule

Alternative Names

EPCAM
Tumor-Associated Calcium Signal Transducer 1
TACSTD1
Antigen Defined By Monoclonal Antibody AUA1
MIC18
Membrane Component, Chromosome 4, Surface Marker 1
M4S1
Gastrointestinal Tumor-Associated Antigen 2, 35-Kd Glycoprotein
GA733-2

Length

17,710 bases

No. of Exons

No. of isoforms

Protein Name

Epithelial cell adhesion molecule

Molecular Mass

34932 Da

Amino Acid Count

314

Genomic Location

chr2:47,369,310-47,387,019

Gene Map Locus

2p21

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
del EPCAM	Algeria; Saudi Arabia			Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	del EPCAM
NC_000002.12:g.47584496_47665383del	United Arab Emirates	NC_000002.12:g.47584496_47665383del		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital; Mismatch Repair Cancer Syndrome 2
NM_002354.3:c.1A>C	Palestine	NC_000002.12:g.47369506A>C		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.29344A>C; NM_002354.3:c.1A>C; NP_002345.2:p.Met1Leu	752808238
NM_002354.3:c.352_368del	Morocco	NC_000002.12:g.47373975_47373991del		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NM_002354.3:c.352_368del; NP_002345.2:p.Cys118GlyfsTer9
NM_002354.3:c.359A>T	Algeria	NC_000002.12:g.47373982A>T		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.33820A>T; NM_002354.3:c.359A>T; NP_002345.2:p.Asn120Ile	2103747763
NM_002354.3:c.38_62dup	Palestine	NC_000002.12:g.47369543_47369567dup		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NM_002354.3:c.38_62dup; NP_002345.2:p.Ala22CysfsTer17
NM_002354.3:c.380C>T	Algeria	NC_000002.12:g.47374003C>T	Uncertain Significance	Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.33841C>T; NM_002354.3:c.380C>T; NP_002345.2:p.Thr127Ile	863224711	216556
NM_002354.3:c.394G>T	Egypt	NC_000002.12:g.47374017G>T		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.33855G>T; NM_002354.3:c.394G>T; NP_002345.2:p.Glu132Ter
NM_002354.3:c.412C>T	Saudi Arabia	NC_000002.12:g.47374035C>T	Pathogenic	Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.33873C>T; NM_002354.3:c.412C>T; NP_002345.2:p.Arg138Ter	397514661	40256
NM_002354.3:c.492-2A>G	Kuwait	NC_000002.12:g.47377012A>G	Pathogenic	Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.36850A>G; NM_002354.3:c.492-2A>G	606231281	157604
NM_002354.3:c.499dup	Kuwait; Qatar; Saudi A...	NC_000002.12:g.47377021dup	Pathogenic	Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.36859dup; NM_002354.3:c.499dup; NP_002345.2:p.Gln167ProfsTer21	606231204	12774
NM_002354.3:c.556-14A>G	Algeria; Morocco	NC_000002.12:g.47378939A>G	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.38777A>G; NM_002354.3:c.556-14A>G	376155665	157603
NM_002354.3:c.579del	Palestine	NC_000002.12:g.47378976del		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.38814del; NM_002354.3:c.579del; NP_002345.2:p.Ile193MetfsTer17
NM_002354.3:c.589C>T	Iraq	NC_000002.12:g.47378986C>T		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	NG_012352.2:g.38824C>T; NM_002354.3:c.589C>T; NP_002345.2:p.Gln197Ter	2103757072

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Other Reports

Kuwait

Salomon et al. (2011) identified two different mutations in the EPCAM gene among seven consanguineous families from Kuwait and Qatar affected with Congenital Tufting Enteropathy (CTE). The first mutation was a 1-bp homozygous insertion (c.498insC) in exon five, which was found in most of the patients, while the second mutation was a novel IVS4-2A>G mutation. Both mutations result in a truncated protein in the C-terminal domain that is important for EPCAM anchorage at the intracellular membrane.

Qatar

[See: Kuwait > Salomon et al., 2011].

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPCAM https://medlineplus.gov/genetics/gene/epcam/

Contributors

Pratibha Nair: 23.06.2022
Asha Deepthi: 12.04.2021
Nada Assaf: 29.07.2013

Edit History

Pratibha Nair: 09.10.2023
Pratibha Nair: 23.06.2022
Asha Deepthi: 12.04.2021
Pratibha Nair: 19.08.2013

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