ITGA2

integrin subunit alpha 2

Summary

This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

Known Variants281 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs26680	5:52,284,386	T/C	regulatory region variant	—
rs27646	5:52,285,077	C/G	—	benign
rs41308844	5:52,285,098	T/G	—	benign
rs28095	5:52,285,117	T/C	—	benign
rs3212385	5:52,285,175	G/A	—	benign
rs886060656	5:52,285,200	G/C	—	uncertain significance
rs543948644	5:52,285,210	T/A	—	uncertain significance
rs768692399	5:52,285,264	C/T	—	uncertain significance
rs143667535	5:52,285,286	G/A	—	benign
rs559975113	5:52,285,309	A/G	—	benign
rs779969604	5:52,285,312	G/C	—	uncertain significance
rs1740804694	5:52,285,323	G/T	—	likely benign
rs40118	5:52,285,667	G/C	—	benign
rs1592795	5:52,309,675	A/G	intron variant	—
rs72760414	5:52,313,983	C/T	intron variant	—
rs3212666	5:52,322,369	A/G	—	benign
rs374701439	5:52,322,598	G/A	—	uncertain significance
rs140852048	5:52,322,636	C/T	—	benign
rs780441074	5:52,322,684	T/A	—	uncertain significance
rs1352106448	5:52,322,696	C/A	—	uncertain significance
rs758980432	5:52,322,708	T/C	—	uncertain significance
rs26678	5:52,322,721	T/G	—	benign
rs3212438	5:52,337,756	A/G	—	benign
rs3212439	5:52,337,783	T/C	—	benign
rs3212441	5:52,337,908	C/T	—	benign
rs2478306701	5:52,337,968	G/A	—	uncertain significance
rs143262642	5:52,337,983	G/A	—	likely benign
rs576511920	5:52,338,006	C/G	—	uncertain significance
rs200476815	5:52,338,024	G/A	—	benign
rs1363192	5:52,338,083	T/G	—	benign
rs27956	5:52,338,227	T/A	—	benign
rs2287950	5:52,338,241	G/A	—	benign
rs1316250	5:52,338,276	T/C	—	benign
rs188816090	5:52,340,862	G/A	—	benign
rs775692909	5:52,340,867	C/A	—	uncertain significance
rs1432056940	5:52,340,922	C/T	—	likely benign
rs1421937	5:52,341,064	A/G	—	benign
rs3212461	5:52,341,110	T/G	—	benign
rs3212483	5:52,343,901	C/T	—	benign
rs3212486	5:52,344,046	G/A	—	benign
rs148042733	5:52,344,242	C/T	—	uncertain significance
rs752392366	5:52,344,319	A/G	—	uncertain significance
rs55973669	5:52,344,487	A/G	—	likely benign
rs190131248	5:52,344,543	A/G	—	uncertain significance
rs773789837	5:52,344,572	G/A	—	uncertain significance
rs886060657	5:52,344,584	G/T	—	uncertain significance
rs1421933	5:52,344,610	G/A	—	benign
rs3212487	5:52,344,780	G/A	—	benign
rs2974978	5:52,344,837	C/T	—	benign
rs26675	5:52,347,243	G/A	—	benign
rs373539496	5:52,347,246	G/T	—	benign
rs142956915	5:52,347,344	A/G	—	uncertain significance
rs61737774	5:52,347,366	A/C	—	likely benign
rs1126643	5:52,347,369	C/T	synonymous variant	benign
rs1744365374	5:52,347,371	G/A	—	uncertain significance
rs1833558	5:52,347,561	G/A	—	benign
rs3212519	5:52,351,182	A/G	—	benign
rs2910962	5:52,351,236	T/C	—	benign
rs2974987	5:52,351,242	A/G	—	benign
rs202058704	5:52,351,357	A/T	—	likely benign
rs1139484	5:52,351,377	T/C	—	benign
rs753108742	5:52,351,412	C/T	—	uncertain significance
rs1062535	5:52,351,413	G/A	synonymous variant	benign
rs3212521	5:52,351,437	C/T	—	benign
rs41377544	5:52,351,459	A/T	—	benign
rs1744596435	5:52,351,511	G/C	—	uncertain significance
rs749281806	5:52,351,513	A/T	—	uncertain significance
rs3212522	5:52,351,746	G/A	—	benign
rs41272301	5:52,351,838	G/A	—	benign
rs3212523	5:52,351,876	A/G	—	benign
rs577503636	5:52,351,879	C/T	—	benign
rs2897458	5:52,352,378	A/C	—	—
rs1421929	5:52,353,613	A/G	—	benign
rs140178479	5:52,353,866	G/A	—	uncertain significance
rs191639470	5:52,353,875	A/G	—	uncertain significance
rs199761570	5:52,353,876	A/G	—	uncertain significance
rs541732593	5:52,353,899	G/A	—	conflicting classifications of pathogenicity
rs996765	5:52,354,103	A/T	—	benign
rs3212684	5:52,355,516	A/G	—	benign
rs3212536	5:52,355,566	A/G	—	benign
rs144998443	5:52,355,706	T/C	—	likely benign
rs767342253	5:52,355,719	G/A	—	conflicting classifications of pathogenicity
rs149096085	5:52,355,747	G/A	—	uncertain significance
rs768138682	5:52,355,832	T/C	—	likely benign
rs2303127	5:52,355,854	T/C	—	benign
rs3212537	5:52,356,006	C/T	—	benign
rs3212538	5:52,356,692	T/C	—	benign
rs3212539	5:52,356,701	T/G	—	benign
rs377150294	5:52,356,790	C/T	—	conflicting classifications of pathogenicity
rs1237664713	5:52,356,791	G/A	—	uncertain significance
rs775828798	5:52,356,829	A/G	—	uncertain significance
rs763293160	5:52,356,842	A/G	—	uncertain significance
rs1744884286	5:52,356,859	G/A	—	uncertain significance
rs144256646	5:52,357,391	G/T	intron variant	—
rs761985032	5:52,358,632	G/A	—	uncertain significance
rs1489586116	5:52,358,670	A/G	—	uncertain significance
rs757932706	5:52,358,681	G/A	—	likely benign
rs1744961406	5:52,358,701	T/A	—	uncertain significance
rs199808499	5:52,358,751	A/C	—	likely benign
rs1801106	5:52,358,757	G/A	missense variant	benign

Showing 100 of 281 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.