COL4A3

collagen type IV alpha 3 chain

Summary

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]

Known Variants2,053 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055733	2:228,029,297	G/C	—	uncertain significance
rs886055734	2:228,029,309	T/C	—	uncertain significance
rs886055735	2:228,029,362	G/C	—	uncertain significance
rs747049729	2:228,029,417	G/T	—	conflicting classifications of pathogenicity
rs886055736	2:228,029,427	T/C	—	uncertain significance
rs770803750	2:228,029,430	G/C	—	conflicting classifications of pathogenicity
rs781380101	2:228,029,433	C/T	—	conflicting classifications of pathogenicity
rs1396602090	2:228,029,443	A/C	—	pathogenic
rs1553725815	2:228,029,444	T/C	—	likely pathogenic
rs1385822999	2:228,029,448	C/T	—	likely benign
rs921905047	2:228,029,453	G/A	—	uncertain significance
rs1332533087	2:228,029,454	G/T	—	likely benign
rs1439020670	2:228,029,457	C/A	—	likely benign
rs770024296	2:228,029,458	G/T	—	uncertain significance
rs1317800639	2:228,029,459	C/A	—	uncertain significance
rs2478210454	2:228,029,460	C/T	—	likely benign
rs530353117	2:228,029,463	C/A	—	likely benign
rs1051432500	2:228,029,464	A/C	—	likely benign
rs890999119	2:228,029,467	C/T	—	conflicting classifications of pathogenicity
rs773820821	2:228,029,468	C/T	—	uncertain significance
rs918717650	2:228,029,469	G/A	—	likely benign
rs1453590085	2:228,029,470	C/T	—	pathogenic
rs769170197	2:228,029,471	A/G	—	likely benign
rs2065145679	2:228,029,472	G/A	—	likely benign
rs1189095338	2:228,029,478	C/T	—	conflicting classifications of pathogenicity
rs1172751081	2:228,029,481	G/T	—	likely benign
rs1260966222	2:228,029,486	C/G	—	uncertain significance
rs542100614	2:228,029,487	G/A	—	likely benign
rs1160996300	2:228,029,490	C/G	—	likely benign
rs1245481661	2:228,029,494	C/T	—	likely benign
rs1221126395	2:228,029,496	G/A	—	likely benign
rs772992743	2:228,029,502	C/T	—	likely benign
rs2065150280	2:228,029,504	T/A	—	uncertain significance
rs1036829250	2:228,029,505	G/A	—	likely benign
rs772075575	2:228,029,508	G/C	—	likely benign
rs2065151365	2:228,029,511	G/T	—	likely benign
rs184704920	2:228,029,513	C/G	—	likely benign
rs2478218153	2:228,029,514	G/T	—	likely benign
rs139271412	2:228,029,515	C/T	—	likely benign
rs905509132	2:228,029,517	C/G	—	likely benign
rs1244132148	2:228,029,522	C/A	—	uncertain significance
rs2478218862	2:228,029,523	C/T	—	likely benign
rs999240932	2:228,029,528	A/T	—	uncertain significance
rs2065153716	2:228,029,529	G/A	—	uncertain significance
rs2065153902	2:228,029,530	G/A	—	likely pathogenic
rs1003166710	2:228,029,532	G/A	—	uncertain significance
rs1358691399	2:228,029,536	G/T	—	conflicting classifications of pathogenicity
rs1223507970	2:228,029,537	G/C	—	conflicting classifications of pathogenicity
rs2125609146	2:228,029,538	G/C	—	likely benign
rs2478220315	2:228,029,539	G/A	—	likely benign
rs2478220571	2:228,029,541	C/G	—	likely benign
rs1036346108	2:228,029,544	C/G	—	likely benign
rs146223400	2:228,040,313	G/A	intron variant	—
rs56144414	2:228,091,574	A/T	—	—
rs35212277	2:228,092,035	G/C	—	—
rs2068789422	2:228,102,665	T/G	—	likely benign
rs756969098	2:228,102,666	C/G	—	likely benign
rs780318351	2:228,102,674	C/G	—	likely benign
rs148393022	2:228,102,680	C/T	—	benign
rs988459674	2:228,102,686	T/C	—	likely benign
rs2469447545	2:228,102,692	C/T	—	likely benign
rs2469447591	2:228,102,695	T/C	—	likely benign
rs201607115	2:228,102,708	C/G	—	conflicting classifications of pathogenicity
rs2469447779	2:228,102,716	C/T	—	likely benign
rs369251968	2:228,102,722	C/T	—	likely benign
rs13424243	2:228,102,723	G/C	—	benign
rs2469448061	2:228,102,729	A/T	—	pathogenic
rs2068793819	2:228,102,731	A/G	—	likely benign
rs200866082	2:228,102,732	G/A	—	conflicting classifications of pathogenicity
rs2125884162	2:228,102,734	G/C	—	likely benign
rs370204395	2:228,102,736	A/G	—	likely benign
rs2125884194	2:228,102,737	G/A	—	likely benign
rs1207493576	2:228,102,738	A/T	—	pathogenic
rs2469448258	2:228,102,741	G/C	—	likely pathogenic
rs1330826452	2:228,102,749	A/G	—	likely benign
rs2125884265	2:228,102,750	A/C	—	likely benign
rs1882435	2:228,102,752	C/A	intron variant	benign
rs2469448548	2:228,102,756	A/T	—	likely benign
rs181040690	2:228,102,758	T/G	—	likely benign
rs11901256	2:228,102,921	G/T	—	benign
rs11901257	2:228,102,922	G/A	—	benign
rs7579991	2:228,104,760	C/T	—	likely benign
rs1398213359	2:228,104,842	C/T	—	likely benign
rs374322682	2:228,104,843	G/A	—	likely benign
rs2068936477	2:228,104,846	T/G	—	likely benign
rs2469463138	2:228,104,857	A/G	—	likely pathogenic
rs1553749403	2:228,104,859	G/A	—	uncertain significance
rs2469463252	2:228,104,864	G/A	—	likely benign
rs2068937789	2:228,104,865	A/T	—	likely pathogenic
rs1217941846	2:228,104,873	T/C	—	likely benign
rs2469463339	2:228,104,875	C/T	—	uncertain significance
rs2469463398	2:228,104,879	A/G	—	likely benign
rs759289956	2:228,104,884	C/A	—	uncertain significance
rs368291735	2:228,104,885	C/T	—	likely benign
rs184730597	2:228,104,886	G/A	—	conflicting classifications of pathogenicity
rs762912391	2:228,104,888	T/A	—	likely benign
rs2125891603	2:228,104,898	C/T	—	pathogenic
rs917643323	2:228,104,904	G/C	—	uncertain significance
rs200170381	2:228,104,918	T/C	—	likely benign
rs1574658390	2:228,104,919	G/T	—	likely pathogenic

Showing 100 of 2,053 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.