A2M

alpha-2-macroglobulin

Summary

The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]

Known Variants105 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2497943953	12:9,220,788	A/C	—	uncertain significance
rs3759277	12:9,221,199	G/A	upstream gene variant	—
rs376343602	12:9,221,338	G/A	—	uncertain significance
rs754217279	12:9,221,438	C/T	—	uncertain significance
rs1805664	12:9,222,286	C/T	upstream gene variant	—
rs1300462625	12:9,222,399	G/C	—	uncertain significance
rs2497962698	12:9,222,400	A/C	—	uncertain significance
rs201692842	12:9,223,160	C/T	—	uncertain significance
rs1163589028	12:9,224,992	T/C	—	uncertain significance
rs2497987448	12:9,225,001	C/G	—	uncertain significance
rs372632979	12:9,225,025	C/T	—	uncertain significance
rs372114265	12:9,225,395	G/T	—	uncertain significance
rs191120289	12:9,227,152	C/T	—	benign
rs771531434	12:9,227,238	G/A	—	uncertain significance
rs776551974	12:9,227,256	G/T	—	uncertain significance
rs769739191	12:9,227,259	G/A	—	uncertain significance
rs1486214613	12:9,227,319	T/A	—	uncertain significance
rs2300148	12:9,228,024	T/G	intron variant	—
rs200419261	12:9,229,390	T/C	—	likely benign
rs2498029321	12:9,229,396	C/G	—	uncertain significance
rs61730087	12:9,229,399	T/C	—	uncertain significance
rs372050343	12:9,229,428	A/G	—	benign
rs1211762376	12:9,229,499	C/T	—	uncertain significance
rs1219589381	12:9,229,994	G/T	—	uncertain significance
rs190813517	12:9,230,025	A/C	—	likely benign
rs7299282	12:9,230,662	T/A	intron variant	—
rs202210880	12:9,231,867	C/T	—	likely benign
rs769231051	12:9,231,875	A/G	—	likely benign
rs558034541	12:9,232,252	A/G	—	uncertain significance
rs776483113	12:9,232,258	T/G	—	uncertain significance
rs669	12:9,232,268	T/C	missense variant	benign
rs768021420	12:9,232,304	C/T	—	uncertain significance
rs1800433	12:9,232,351	C/T	missense variant	benign
rs191056902	12:9,232,702	C/A	—	likely benign
rs201451491	12:9,232,732	T/C	—	likely benign
rs1359556241	12:9,232,759	C/G	—	uncertain significance
rs1009130913	12:9,232,888	G/C	—	uncertain significance
rs7968640	12:9,234,098	G/A	intron variant	—
rs117099182	12:9,235,198	T/C	intron variant	—
rs771038373	12:9,238,157	T/A	—	—
rs149630403	12:9,241,682	G/C	intron variant	—
rs1358336887	12:9,242,527	C/A	—	uncertain significance
rs368199883	12:9,242,537	G/A	—	likely benign
rs1949161329	12:9,242,615	A/C	—	uncertain significance
rs11609582	12:9,242,623	A/T	splice region variant	benign
rs114155623	12:9,243,016	C/T	—	benign
rs55761427	12:9,243,017	A/G	—	benign
rs2498157048	12:9,243,057	A/G	—	uncertain significance
rs375292452	12:9,243,827	C/T	—	likely benign
rs117138141	12:9,243,855	C/T	—	uncertain significance
rs779160830	12:9,243,876	G/A	—	uncertain significance
rs975545965	12:9,243,936	C/T	—	uncertain significance
rs369403894	12:9,243,980	G/C	—	uncertain significance
rs2498168411	12:9,244,015	C/G	—	uncertain significance
rs1800434	12:9,247,583	C/T	missense variant	benign
rs1705513693	12:9,247,655	T/C	—	uncertain significance
rs774667464	12:9,248,140	G/A	—	likely benign
rs773788913	12:9,248,145	C/T	—	uncertain significance
rs200062192	12:9,248,214	C/T	—	likely benign
rs2498210774	12:9,248,280	G/C	—	uncertain significance
rs955281793	12:9,251,208	A/G	—	uncertain significance
rs1017971143	12:9,251,210	G/A	—	uncertain significance
rs146966573	12:9,251,294	A/G	—	uncertain significance
rs190555000	12:9,251,297	C/T	—	likely benign
rs374437029	12:9,251,319	G/C	—	uncertain significance
rs745823596	12:9,252,034	G/A	—	likely benign
rs750247006	12:9,253,792	C/T	—	likely benign
rs759727725	12:9,253,813	A/G	—	likely benign
rs202178042	12:9,254,135	G/T	—	uncertain significance
rs752422412	12:9,254,164	A/C	—	uncertain significance
rs2498266900	12:9,254,177	G/A	—	uncertain significance
rs226396	12:9,254,226	C/T	—	benign
rs2228222	12:9,254,241	G/A	—	benign
rs201110464	12:9,254,262	G/A	—	benign
rs1482300294	12:9,256,866	G/A	—	uncertain significance
rs2498287146	12:9,256,870	T/C	—	uncertain significance
rs2498287357	12:9,256,887	A/G	—	likely benign
rs375282521	12:9,256,896	T/C	—	uncertain significance
rs367610653	12:9,256,899	T/G	—	uncertain significance
rs2498287656	12:9,256,909	T/C	—	uncertain significance
rs374532473	12:9,256,946	G/A	—	benign
rs200364039	12:9,256,972	C/T	—	benign
rs751910472	12:9,258,840	A/G	—	uncertain significance
rs750697212	12:9,259,185	C/T	—	uncertain significance
rs140258425	12:9,260,170	C/T	—	benign
rs202126909	12:9,260,177	G/A	—	likely benign
rs182493380	12:9,260,217	G/A	—	benign
rs10842898	12:9,262,289	G/T	intron variant	—
rs1938594832	12:9,262,514	G/C	—	uncertain significance
rs750530590	12:9,262,520	C/A	—	uncertain significance
rs1042685386	12:9,262,594	A/G	—	uncertain significance
rs369574498	12:9,262,615	C/T	—	uncertain significance
rs2498346347	12:9,262,924	G/C	—	uncertain significance
rs56202499	12:9,265,016	G/C	—	benign
rs201901298	12:9,265,043	C/T	—	likely benign
rs772340371	12:9,265,053	C/A	—	uncertain significance
rs1329637882	12:9,265,081	T/C	—	uncertain significance
rs759883074	12:9,265,090	C/G	—	uncertain significance
rs754940338	12:9,265,125	T/A	—	uncertain significance
rs776923281	12:9,265,966	A/T	—	uncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.