CEACAM1

CEA cell adhesion molecule 1

Summary

This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]

Known Variants12 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251338334519:43,013,301G/T—uncertain significance
rs77556547619:43,015,056A/G—likely benign
rs134200104219:43,015,751T/C—uncertain significance
rs132481142019:43,023,254C/A—uncertain significance
rs4545229819:43,023,255T/Cmissense variant—
rs14470997819:43,026,222G/T—uncertain significance
rs131496108519:43,026,259T/C—uncertain significance
rs53588219419:43,026,327C/T—uncertain significance
rs76096387919:43,031,284G/A—likely benign
rs125605530819:43,031,458G/T—likely benign
rs87925537219:43,032,483C/T—uncertain significance
rs13836908819:43,032,510G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.