ITGAV

integrin subunit alpha V

Summary

The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]

Known Variants92 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs767302238	2:187,455,123	C/T	—	uncertain significance
rs201836720	2:187,455,132	C/T	—	uncertain significance
rs756850638	2:187,455,142	C/T	—	uncertain significance
rs747523789	2:187,455,167	C/G	—	uncertain significance
rs201076250	2:187,455,233	C/G	—	uncertain significance
rs768430610	2:187,466,752	A/G	—	uncertain significance
rs2105655315	2:187,466,786	C/T	—	uncertain significance
rs376272954	2:187,466,794	C/G	—	uncertain significance
rs201909609	2:187,466,849	G/A	—	uncertain significance
rs201231113	2:187,466,860	A/G	—	uncertain significance
rs1430725633	2:187,466,870	A/G	—	uncertain significance
rs3911238	2:187,470,344	G/A	—	—
rs6434190	2:187,484,440	A/T	—	—
rs1357935457	2:187,490,223	G/C	—	pathogenic
rs114767222	2:187,490,232	G/A	—	benign
rs745888292	2:187,490,246	G/A	—	uncertain significance
rs753894261	2:187,490,261	C/A	—	uncertain significance
rs10174098	2:187,492,742	G/A	intron variant	—
rs9333289	2:187,498,107	T/C	splice region variant	—
rs28616716	2:187,500,029	A/G	intron variant	—
rs149545302	2:187,500,852	C/T	—	benign
rs1167954842	2:187,500,855	C/A	—	uncertain significance
rs1178436168	2:187,500,874	A/G	—	uncertain significance
rs372449821	2:187,500,898	C/T	—	uncertain significance
rs376680231	2:187,500,899	G/A	—	uncertain significance
rs752959691	2:187,500,905	C/T	—	uncertain significance
rs757414002	2:187,501,807	T/C	—	uncertain significance
rs2468580638	2:187,501,844	G/A	—	likely benign
rs61765181	2:187,505,702	T/A	—	benign
rs1167808387	2:187,506,141	C/A	—	uncertain significance
rs140516074	2:187,506,209	A/G	—	likely benign
rs1263833811	2:187,506,210	G/A	—	uncertain significance
rs200664669	2:187,506,276	A/G	—	uncertain significance
rs1443125036	2:187,506,292	A/T	—	pathogenic
rs377123218	2:187,511,416	T/C	—	uncertain significance
rs767119814	2:187,511,418	G/A	—	uncertain significance
rs1688270832	2:187,511,421	A/G	—	uncertain significance
rs569411702	2:187,511,460	G/A	—	uncertain significance
rs143468341	2:187,511,479	G/T	—	uncertain significance
rs370277214	2:187,511,487	G/A	—	uncertain significance
rs200418625	2:187,511,495	C/T	—	likely benign
rs2105719372	2:187,511,548	C/A	—	uncertain significance
rs2468390167	2:187,511,555	T/C	—	likely benign
rs202007073	2:187,516,735	C/A	—	uncertain significance
rs142779223	2:187,516,773	A/T	—	uncertain significance
rs540703885	2:187,516,797	A/G	—	uncertain significance
rs938849170	2:187,519,415	G/A	—	uncertain significance
rs368980939	2:187,520,982	G/A	—	uncertain significance
rs2230615	2:187,521,051	T/G	—	likely benign
rs146565475	2:187,521,064	C/T	—	likely benign
rs921012957	2:187,521,086	G/T	—	uncertain significance
rs199845024	2:187,521,087	G/C	—	uncertain significance
rs199670325	2:187,521,118	C/T	—	uncertain significance
rs112803582	2:187,521,119	G/A	—	benign
rs199889586	2:187,521,138	A/G	—	likely benign
rs3738919	2:187,521,260	C/A	intron variant	—
rs7565633	2:187,522,681	A/G	—	—
rs1431094536	2:187,523,802	C/G	—	uncertain significance
rs200949549	2:187,523,819	C/T	—	likely benign
rs150474737	2:187,523,880	C/T	—	uncertain significance
rs1269202960	2:187,523,892	T/G	—	uncertain significance
rs562639972	2:187,528,547	A/C	—	uncertain significance
rs200809220	2:187,529,241	T/C	—	uncertain significance
rs2468433682	2:187,529,273	A/G	—	uncertain significance
rs138771382	2:187,529,315	A/G	—	uncertain significance
rs1055157911	2:187,529,354	G/A	—	uncertain significance
rs201558849	2:187,529,853	G/C	—	uncertain significance
rs1472052772	2:187,529,886	G/C	—	uncertain significance
rs2084448	2:187,530,520	T/C	intron variant	—
rs2468439482	2:187,531,441	G/T	—	uncertain significance
rs1688922276	2:187,531,876	G/A	—	pathogenic
rs1447097348	2:187,531,881	A/G	—	uncertain significance
rs1357340344	2:187,531,949	G/C	—	uncertain significance
rs200258394	2:187,532,418	T/C	—	uncertain significance
rs752660168	2:187,532,477	G/A	—	uncertain significance
rs11685758	2:187,533,368	C/T	intron variant	—
rs767980859	2:187,533,544	C/G	—	uncertain significance
rs372469580	2:187,533,619	A/T	—	uncertain significance
rs779007178	2:187,533,621	A/G	—	uncertain significance
rs2290083	2:187,533,741	T/C	intron variant	—
rs754620384	2:187,534,483	G/A	—	uncertain significance
rs201781970	2:187,534,518	A/G	—	uncertain significance
rs770037400	2:187,540,377	G/C	—	uncertain significance
rs376903363	2:187,540,604	G/A	—	uncertain significance
rs2468461716	2:187,540,625	C/G	—	uncertain significance
rs140775791	2:187,541,575	G/A	—	benign
rs138816496	2:187,541,946	G/A	—	uncertain significance
rs1374520480	2:187,541,962	A/G	—	likely benign
rs201434983	2:187,541,988	A/G	—	uncertain significance
rs199754402	2:187,542,021	T/C	—	likely benign
rs11902171	2:187,543,227	G/A	—	—
rs1839123	2:187,543,374	C/T	3 prime UTR variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.