EPCAM Chromosome 2
Epithelial cell adhesion molecule
Upload your DNA to see your personal genotypes for variants in EPCAM.
What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000119888
Associated Conditions (14)
Hereditary cancer-predisposing syndrome
EPCAM-related disorder
Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
Lynch syndrome 1
Gastric cancer
Familial cancer of breast
Carcinoma of colon
Colon adenocarcinoma
Uterine corpus endometrial carcinoma
Colonic neoplasm
Key Variants
RS115212523
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS141751351
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, EPCAM-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS146480420
Conflicting classifications of pathogenicity
Lynch syndrome, Hereditary cancer-predisposing syndrome, EPCAM-related disorder
Health Risk
RS146685071
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS148725106
Conflicting classifications of pathogenicity
Health Risk
RS149274310
Conflicting classifications of pathogenicity
Hereditary nonpolyposis colorectal neoplasms, Ovarian cancer, Hereditary nonpolyposis colorectal neoplasms
Health Risk
RS2103747843
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy, Hereditary cancer-predisposing syndrome
Health Risk
RS34474955
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Lynch syndrome 8, Hereditary cancer-predisposing syndrome
Health Risk
RS587780765
Conflicting classifications of pathogenicity
Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome
Health Risk
RS749805135
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8
Health Risk
RS771569331
Conflicting classifications of pathogenicity
Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
Health Risk
RS2103746911
Likely pathogenic
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115212523 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS141751351 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, EPCAM-related disorder, Hereditary cancer-predisposing syndrome |
| RS146480420 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, EPCAM-related disorder |
| RS146685071 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS148725106 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149274310 | Health Risk | Conflicting classifications of pathogenicity | Hereditary nonpolyposis colorectal neoplasms, Ovarian cancer, Hereditary nonpolyposis colorectal neoplasms |
| RS2103747843 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy, Hereditary cancer-predisposing syndrome |
| RS34474955 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Lynch syndrome 8, Hereditary cancer-predisposing syndrome |
| RS587780765 | Health Risk | Conflicting classifications of pathogenicity | Lynch syndrome, Hereditary cancer-predisposing syndrome, Lynch syndrome |
| RS749805135 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8 |
| RS771569331 | Health Risk | Conflicting classifications of pathogenicity | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS2103746911 | Health Risk | Likely pathogenic | — |
| RS2103770769 | Health Risk | Likely pathogenic | Lynch syndrome 1, Lynch syndrome 1 |
| RS752808238 | Health Risk | Likely pathogenic | Gastric cancer, EPCAM-related disorder, Familial cancer of breast |
| RS863224453 | Health Risk | Likely pathogenic | — |
| RS878854496 | Health Risk | Likely pathogenic | — |
| RS987919056 | Health Risk | Likely pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS1324088403 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS1385489500 | Health Risk | Pathogenic | EPCAM-related disorder, EPCAM-related disorder |
| RS147494515 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS1558438591 | Health Risk | Pathogenic | Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2103745906 | Health Risk | Pathogenic | — |
| RS2103747818 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2103756948 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2103768437 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS2465443167 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2465443187 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2465443330 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2465455020 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2465455403 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2465457194 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS267606785 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS397514661 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, Gastric cancer, Congenital diarrhea 5 with tufting enteropathy |
| RS606231203 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, Gastric cancer, Hereditary cancer-predisposing syndrome |
| RS606231204 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, EPCAM-related disorder, Congenital diarrhea 5 with tufting enteropathy |
| RS606231281 | Health Risk | Pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS751264236 | Health Risk | Pathogenic | Colonic neoplasm, Colonic neoplasm |
| RS755113500 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS878854485 | Health Risk | Pathogenic | — |
| RS878854488 | Health Risk | Pathogenic | — |
| RS878854491 | Health Risk | Pathogenic | — |
| RS1346393896 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1553342984 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |
| RS376155665 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 5 with tufting enteropathy, Lynch syndrome 8, EPCAM-related disorder |
| RS747738988 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy |