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Gene

EPCAM

epithelial cell adhesion molecule

Summary

Cytogenetic location
2p21
Coordinates
Chromosome 2: 47,369,311–47,387,020 (GRCh38)
Exons
9 exons across 17.7 kb
Protein
314 amino acids
Inheritance
Autosomal dominant
Also known as
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
Previous symbols
M4S1, MIC18, TACSTD1
MANE Select transcript
ENST00000263735.9NM_002354.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Diarrhoeas & Enteropathies

    • Congenital diarrhoea

      Inherited conditions, including congenital chloride diarrhoea (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) and congenital sodium diarrhoea (SPINT2, SLC9A3), that cause chronic diarrhoea from early infancy.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A specific diagnosis directs treatment such as electrolyte replacement for chloride diarrhoea, or early planning for parenteral nutrition or intestinal transplant in microvillus inclusion disease and tufting enteropathy.

  • Lynch Syndrome

    • Autosomal dominant

      Hereditary nonpolyposis colorectal cancer syndrome caused by germline mismatch-repair defects, with early-onset colorectal, endometrial and other cancers.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Enhanced colonoscopy surveillance, aspirin chemoprevention, immune checkpoint inhibitors for MSI-high tumors, cascade testing, risk-reducing gynecological surgery

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EPCAM is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where EPCAM sits. EPCAM and 9 genes near it on chromosome 2, from 46,878,166 to 47,878,165.Chromosome 22p21p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.347 Mb47.2 Mb47.4 Mb47.6 Mb47.8 MbMCFD2: 46,895,793–46,941,855, reverse strandMCFD2TTC7A: 46,915,869–47,076,137, forward strandTTC7ASTPG4: 47,045,538–47,155,308, reverse strandSTPG4: 47,065,941–47,176,511, reverse strandCALM2: 47,160,084–47,176,921, reverse strandCALM2EPCAM: 47,369,311–47,387,020, forward strandEPCAMMSH2: 47,403,067–47,663,146, forward strandMSH2KCNK12: 47,509,290–47,570,993, reverse strandKCNK12MSH6: 47,695,530–47,810,109, forward strandMSH6FBXO11: 47,785,204–47,906,554, reverse strandFBXO11Diagram of EPCAM: 9 exons on the forward strand of chromosome 2Exon 1: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 7 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 1: 47,369,311–47,369,581, 271 basesExon 2: 47,373,463–47,373,570, 108 basesExon 3: 47,373,808–47,374,048, 241 basesExon 4: 47,375,234–47,375,299, 66 basesExon 5: 47,377,014–47,377,077, 64 basesExon 6: 47,378,953–47,379,054, 102 basesExon 7: 47,379,769–47,379,969, 201 basesExon 8: 47,385,166–47,385,210, 45 basesExon 9: 47,386,572–47,387,020, 449 bases1234567895′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.5 kb of the gene's 17.7 kb; 945 of those bases code for the protein.

How a genome test reads EPCAM

24

positions in EPCAM where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.7 kb of EPCAM, introns included, not only the 1.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EPCAM gene: epithelial cell adhesion molecule. Retrieved 16 October 2026, from https://dantelabs.com/genes/epcam

Vancouver

Dante Labs. EPCAM gene: epithelial cell adhesion molecule [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/epcam

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