CEACAM5

CEA cell adhesion molecule 5

Summary

This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

Known Variants60 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146027915	19:42,211,881	G/C	upstream gene variant	—
rs200391100	19:42,212,689	C/G	—	uncertain significance
rs782259884	19:42,213,611	C/A	—	uncertain significance
rs2513385333	19:42,213,638	A/G	—	uncertain significance
rs2513385348	19:42,213,640	C/T	—	uncertain significance
rs111403501	19:42,213,656	C/T	—	uncertain significance
rs150428325	19:42,213,687	G/T	—	benign
rs10401128	19:42,213,693	A/C	—	benign
rs10402825	19:42,213,744	T/C	—	benign
rs12971352	19:42,213,772	A/G	—	benign
rs201527439	19:42,213,773	T/C	—	uncertain significance
rs28683503	19:42,213,782	T/C	—	benign
rs755587636	19:42,213,820	A/G	—	uncertain significance
rs782691295	19:42,213,830	A/G	—	uncertain significance
rs112905632	19:42,213,833	T/C	—	benign
rs74626868	19:42,213,841	C/T	—	benign
rs34155934	19:42,213,868	A/G	—	benign
rs35091611	19:42,213,872	T/C	—	benign
rs889365	19:42,215,351	G/A	upstream gene variant	—
rs781845608	19:42,218,925	T/G	—	uncertain significance
rs368068137	19:42,218,934	G/A	—	uncertain significance
rs2513398370	19:42,218,958	T/C	—	likely benign
rs368142383	19:42,218,982	G/A	—	likely benign
rs115472929	19:42,218,984	C/T	—	benign
rs113097830	19:42,219,022	C/A	—	conflicting classifications of pathogenicity
rs2072499179	19:42,219,046	C/T	—	uncertain significance
rs782292675	19:42,219,133	C/A	—	uncertain significance
rs200472113	19:42,219,575	C/T	—	uncertain significance
rs140053609	19:42,219,646	G/A	—	uncertain significance
rs61735258	19:42,219,710	A/G	—	uncertain significance
rs111739385	19:42,219,767	C/T	—	benign
rs201986383	19:42,219,809	C/T	—	uncertain significance
rs75927810	19:42,221,418	G/A	—	benign
rs10407503	19:42,221,434	C/G	missense variant	—
rs2072547053	19:42,221,503	T/G	—	uncertain significance
rs376831302	19:42,221,506	C/T	—	uncertain significance
rs782165010	19:42,221,524	A/T	—	uncertain significance
rs2072547913	19:42,221,537	C/G	—	uncertain significance
rs7249230	19:42,221,607	A/T	stop gained	—
rs148011427	19:42,222,058	G/A	—	uncertain significance
rs782603077	19:42,222,065	C/T	—	uncertain significance
rs373389663	19:42,222,259	A/G	—	benign
rs1555815478	19:42,222,295	G/C	—	uncertain significance
rs149636403	19:42,223,906	A/T	—	uncertain significance
rs533199278	19:42,223,969	G/A	—	uncertain significance
rs138799075	19:42,224,052	G/A	—	likely benign
rs146319665	19:42,224,098	G/A	—	likely benign
rs61735249	19:42,224,118	G/A	—	benign
rs147999822	19:42,224,849	G/A	—	benign
rs782299888	19:42,224,863	T/C	—	uncertain significance
rs2513415600	19:42,224,868	C/T	—	uncertain significance
rs373325856	19:42,224,871	C/G	—	uncertain significance
rs556201612	19:42,224,872	C/A	—	uncertain significance
rs371859092	19:42,224,877	T/G	—	uncertain significance
rs782478629	19:42,224,890	C/T	—	uncertain significance
rs113558709	19:42,224,939	G/A	—	benign
rs201571774	19:42,224,952	C/T	—	uncertain significance
rs369566364	19:42,224,963	G/C	—	likely benign
rs9621	19:42,231,159	G/A	missense variant	—
rs782412306	19:42,231,207	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.