ANTXR1

ANTXR cell adhesion molecule 1

Summary

This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]

Known Variants140 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13390810	2:69,240,338	G/A	—	benign
rs13390812	2:69,240,343	G/T	—	benign
rs76179551	2:69,240,590	G/A	—	benign
rs142417854	2:69,240,649	G/A	—	likely benign
rs28365986	2:69,240,651	G/A	—	benign
rs759396484	2:69,240,686	G/A	—	uncertain significance
rs763539838	2:69,240,708	C/T	—	uncertain significance
rs1558726190	2:69,240,711	G/T	—	uncertain significance
rs865863329	2:69,240,731	G/A	—	uncertain significance
rs2467019955	2:69,240,732	A/T	—	uncertain significance
rs967954093	2:69,240,764	C/G	—	uncertain significance
rs1476787484	2:69,240,800	G/T	—	likely benign
rs116312139	2:69,240,872	G/C	—	benign
rs60873308	2:69,267,028	A/T	—	benign
rs4366940	2:69,267,134	G/A	—	benign
rs2467101727	2:69,267,168	T/C	—	likely benign
rs2467102003	2:69,267,267	T/G	—	likely benign
rs13393201	2:69,267,304	T/C	—	benign
rs4527236	2:69,267,328	G/A	—	benign
rs397514701	2:69,271,911	C/T	stop gained	pathogenic
rs141240644	2:69,271,912	G/A	—	uncertain significance
rs62135618	2:69,272,093	G/A	—	benign
rs79295626	2:69,272,106	G/A	—	benign
rs11126214	2:69,272,116	C/T	—	benign
rs4315565	2:69,287,943	A/T	—	—
rs4591376	2:69,297,622	C/T	—	benign
rs1245377168	2:69,297,790	G/A	—	uncertain significance
rs72897307	2:69,297,897	A/G	—	benign
rs4306745	2:69,298,013	T/C	—	benign
rs4355153	2:69,298,014	C/A	—	benign
rs13030844	2:69,298,817	T/C	—	benign
rs77557115	2:69,298,854	G/T	—	benign
rs757041109	2:69,298,870	T/A	—	likely benign
rs750350122	2:69,298,873	A/G	—	likely benign
rs869312896	2:69,298,918	A/G	splice region variant	pathogenic
rs57008189	2:69,300,087	G/C	—	benign
rs548701918	2:69,300,093	G/A	—	benign
rs778487700	2:69,300,171	G/A	—	uncertain significance
rs77687153	2:69,300,191	C/T	—	benign
rs10202939	2:69,300,243	G/A	—	benign
rs769908738	2:69,300,249	G/T	—	likely benign
rs113138542	2:69,300,274	C/T	—	benign
rs397514700	2:69,302,734	C/T	stop gained	pathogenic
rs1278036483	2:69,302,749	A/G	—	uncertain significance
rs749496469	2:69,302,765	G/C	—	uncertain significance
rs140035765	2:69,302,781	T/C	—	likely benign
rs776436815	2:69,302,796	G/A	—	conflicting classifications of pathogenicity
rs74606820	2:69,302,890	C/T	—	benign
rs778922656	2:69,304,587	C/T	—	likely benign
rs369048882	2:69,304,616	A/G	—	uncertain significance
rs7424907	2:69,304,719	T/C	—	benign
rs13419465	2:69,304,779	C/T	—	benign
rs4854546	2:69,317,925	A/G	—	benign
rs4241348	2:69,318,129	T/G	—	benign
rs13412636	2:69,318,161	T/G	—	benign
rs112210761	2:69,318,443	C/G	intron variant	—
rs6546482	2:69,329,782	C/T	—	benign
rs374651423	2:69,329,954	G/A	—	likely benign
rs367841946	2:69,329,958	T/C	—	likely benign
rs2467274298	2:69,329,986	T/C	—	uncertain significance
rs182343000	2:69,329,990	C/T	—	likely benign
rs767918765	2:69,330,003	G/A	—	uncertain significance
rs750663040	2:69,330,006	T/C	—	uncertain significance
rs6710260	2:69,330,118	A/G	—	benign
rs116024256	2:69,346,359	G/T	regulatory region variant	—
rs117427985	2:69,350,109	T/C	—	benign
rs116042175	2:69,350,142	T/A	—	benign
rs776718589	2:69,350,176	C/G	—	uncertain significance
rs371239458	2:69,350,200	T/A	—	likely pathogenic
rs77890195	2:69,350,343	A/G	—	benign
rs75580794	2:69,351,541	A/G	—	benign
rs78702803	2:69,351,617	A/G	—	benign
rs11126217	2:69,351,621	T/A	—	benign
rs139338223	2:69,351,712	G/A	—	likely benign
rs76576396	2:69,351,963	G/A	—	benign
rs78775089	2:69,372,586	A/G	—	benign
rs79337921	2:69,379,280	G/A	intron variant	benign
rs140860822	2:69,379,312	C/T	—	benign
rs119475040	2:69,379,325	G/A	missense variant	risk factor
rs138571613	2:69,379,327	C/T	—	likely benign
rs772914284	2:69,379,380	C/G	—	uncertain significance
rs34590960	2:69,379,614	G/C	—	—
rs5013914	2:69,389,155	A/G	intron variant	—
rs4602255	2:69,392,128	G/T	—	—
rs10191848	2:69,397,157	A/G	—	benign
rs1271409204	2:69,397,399	C/T	—	uncertain significance
rs11896133	2:69,397,594	C/T	—	benign
rs1674011815	2:69,399,495	G/T	—	likely benign
rs368125397	2:69,399,504	T/C	—	likely benign
rs11126223	2:69,408,045	G/A	upstream gene variant	—
rs769332274	2:69,408,933	G/A	—	uncertain significance
rs869312897	2:69,408,978	G/A	missense variant	pathogenic
rs199942219	2:69,408,990	G/A	—	uncertain significance
rs6749826	2:69,409,029	C/A	—	benign
rs765361538	2:69,409,629	G/A	—	uncertain significance
rs761222849	2:69,409,630	T/C	—	likely benign
rs138963459	2:69,409,663	T/G	—	benign
rs200017369	2:69,409,684	T/C	—	benign
rs370893520	2:69,409,702	G/A	—	likely benign
rs747908253	2:69,409,731	G/A	—	uncertain significance

Showing 100 of 140 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.