EPCAM wt Allele

Preferred Label : EPCAM wt Allele;

NCIt synonyms : MK-1; GA733-2; M4S1; TACSTD1 wt Allele; TROP1; CO17-1A; KSA; LY74; MIC18; TACST-1; ESA; EGP40; MH99; Ep-CAM; 17-1A; TACSTD1; Epithelial Cell Adhesion Molecule wt Allele; HEA125; EGP34; CO-17A; KS1/4; DIAR5; CD326; 323/A3; HNPCC8; EGP-2; MOC31; Tumor-Associated Calcium Signal Transducer 1 Gene; EGP314;

NCIt definition : Human EPCAM wild-type allele is located within 2p21 and is approximately 18 kb in length. This allele, which encodes epithelial cell adhesion molecule protein, is involved in calcium-independent cellular adhesion.;

NCIt note : TACSTD1 may be involved in preventing excessive inflammatory responses in regions, such as intestine, with high antigen exposure. The antigen produced by TACSTD1 is being used as a target for immunotherapy treatment of human carcinomas.;

GenBank Accession Number : NM_002354;

Details

Origin ID

C51229;

UMLS CUI

C1704805;

Automatic exact mappings (from CISMeF team)
- Diarrhea 5, with tufting enteropathy, congenital [OMIM Phenotype]
- EpCAM [LOINC component]
- Epithelial Cell Adhesion Molecule [MeSH Descriptor]
- Epithelial Cell Adhesion Molecule [MeSH concept]
- Epithelial cellular adhesion molecule [OMIM gene]
- Gene ID (HGNC) [EDAM data]
- HGNC [EDAM data]
- Paraoxonase 1 [OMIM Phenotype]
- atrial premature complexes [MeSH Descriptor]
- colorectal cancer, hereditary nonpolyposis, type 8 [MeSH Supplementary Concept]
- congenital diarrhea 5 with tufting enteropathy [DO Concept]
- epithelial cell adhesion molecule [ORDO Gene]
- hereditary nonpolyposis colorectal cancer type 8 [DO Concept]
- paraoxonase 1 [ORDO Gene]
OMIM relation
- Epithelial cellular adhesion molecule [OMIM gene]
See also inter- (CISMeF)
- Lynch syndrome 8 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Colorectal Carcinoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p21 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Ligand Binding [NCIt concept]
- Signal Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

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