COL11A2

collagen type XI alpha 2 chain

Summary

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

Known Variants2,150 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2235498	6:33,130,430	A/G	—	benign
rs117470046	6:33,130,530	C/T	—	likely benign
rs536130072	6:33,130,633	G/C	—	conflicting classifications of pathogenicity
rs1453667316	6:33,130,636	G/A	—	uncertain significance
rs773303307	6:33,130,667	T/G	—	uncertain significance
rs548143581	6:33,130,749	C/A	—	conflicting classifications of pathogenicity
rs199956729	6:33,130,911	G/C	—	uncertain significance
rs886061312	6:33,130,919	G/A	—	uncertain significance
rs1768585045	6:33,130,970	C/G	—	uncertain significance
rs886061313	6:33,131,016	G/T	—	uncertain significance
rs760188928	6:33,131,026	C/A	—	uncertain significance
rs1768602218	6:33,131,062	T/C	—	uncertain significance
rs886061314	6:33,131,207	G/T	—	uncertain significance
rs528560777	6:33,131,327	G/C	—	likely benign
rs183458493	6:33,131,336	C/T	—	likely benign
rs186720023	6:33,131,451	G/A	—	likely benign
rs778899719	6:33,131,456	T/C	—	uncertain significance
rs370666805	6:33,131,462	A/G	—	likely benign
rs1048273373	6:33,131,463	T/A	—	conflicting classifications of pathogenicity
rs777836375	6:33,131,471	A/G	—	uncertain significance
rs1437806335	6:33,131,472	C/G	—	uncertain significance
rs2534346256	6:33,131,475	G/A	—	benign
rs1324290355	6:33,131,476	C/G	—	likely benign
rs374704995	6:33,131,481	G/A	—	likely benign
rs746315682	6:33,131,487	C/A	—	uncertain significance
rs769428843	6:33,131,491	T/A	—	likely benign
rs192022847	6:33,131,495	C/T	—	likely benign
rs762351406	6:33,131,496	G/A	—	conflicting classifications of pathogenicity
rs912572166	6:33,131,498	C/T	—	conflicting classifications of pathogenicity
rs768399249	6:33,131,500	C/T	—	likely benign
rs2229792	6:33,131,501	G/A	—	likely benign
rs139647701	6:33,131,506	G/C	—	likely benign
rs1413052565	6:33,131,514	G/T	—	uncertain significance
rs1554210895	6:33,131,516	T/A	—	uncertain significance
rs1459036159	6:33,131,521	G/A	—	conflicting classifications of pathogenicity
rs906097225	6:33,131,535	G/A	—	likely benign
rs1184038252	6:33,131,541	G/A	—	uncertain significance
rs138667578	6:33,131,545	C/A	—	conflicting classifications of pathogenicity
rs2150508180	6:33,131,550	C/T	—	uncertain significance
rs367748056	6:33,131,553	G/A	—	likely benign
rs765323674	6:33,131,555	A/C	—	uncertain significance
rs752823488	6:33,131,560	C/T	—	conflicting classifications of pathogenicity
rs758377645	6:33,131,561	G/A	—	likely benign
rs1057341966	6:33,131,564	C/T	—	conflicting classifications of pathogenicity
rs142893093	6:33,131,578	C/T	—	conflicting classifications of pathogenicity
rs570708095	6:33,131,579	G/A	—	conflicting classifications of pathogenicity
rs781633250	6:33,131,582	C/T	—	conflicting classifications of pathogenicity
rs534700620	6:33,131,583	G/A	—	conflicting classifications of pathogenicity
rs566084562	6:33,131,593	T/G	—	likely benign
rs1186107859	6:33,131,596	C/T	—	uncertain significance
rs368309085	6:33,131,600	A/C	—	likely benign
rs200548977	6:33,131,602	G/C	—	conflicting classifications of pathogenicity
rs761306949	6:33,131,604	G/C	—	likely benign
rs771886624	6:33,131,605	G/A	—	likely benign
rs2534354260	6:33,131,609	C/T	—	likely benign
rs1768686739	6:33,131,611	A/T	—	likely benign
rs1768687372	6:33,131,612	G/C	—	likely benign
rs2257126	6:33,131,734	A/G	—	benign
rs187754387	6:33,131,748	G/A	intron variant	—
rs9405002	6:33,131,893	T/C	—	benign
rs368369144	6:33,132,014	A/C	—	likely benign
rs750861509	6:33,132,038	T/A	—	uncertain significance
rs1310527404	6:33,132,039	C/G	—	uncertain significance
rs1396255676	6:33,132,053	A/G	—	likely benign
rs1768750170	6:33,132,056	T/C	—	likely benign
rs778248464	6:33,132,070	C/T	—	conflicting classifications of pathogenicity
rs1232261229	6:33,132,071	A/G	—	likely benign
rs1458674673	6:33,132,079	T/C	—	uncertain significance
rs1279705980	6:33,132,083	C/A	—	uncertain significance
rs144290562	6:33,132,086	C/T	—	likely benign
rs769990941	6:33,132,087	G/A	—	conflicting classifications of pathogenicity
rs1259884212	6:33,132,090	C/T	—	likely benign
rs2150510495	6:33,132,100	C/T	—	uncertain significance
rs1562301463	6:33,132,103	C/T	—	uncertain significance
rs2534375187	6:33,132,110	C/T	—	likely benign
rs374731658	6:33,132,113	A/C	—	likely benign
rs146555195	6:33,132,114	C/T	—	conflicting classifications of pathogenicity
rs759322344	6:33,132,115	G/T	—	uncertain significance
rs1768765722	6:33,132,120	C/T	—	uncertain significance
rs935573544	6:33,132,123	A/C	—	uncertain significance
rs2534376349	6:33,132,124	G/A	—	likely benign
rs1377653646	6:33,132,130	C/T	—	uncertain significance
rs528251146	6:33,132,131	G/A	—	conflicting classifications of pathogenicity
rs2150510702	6:33,132,134	A/C	—	likely benign
rs202191908	6:33,132,135	C/T	—	conflicting classifications of pathogenicity
rs546841812	6:33,132,136	G/A	—	conflicting classifications of pathogenicity
rs2534377479	6:33,132,137	G/T	—	likely benign
rs2150510750	6:33,132,140	T/C	—	likely benign
rs2534377890	6:33,132,143	T/C	—	likely benign
rs1300439797	6:33,132,144	C/A	—	conflicting classifications of pathogenicity
rs767920859	6:33,132,149	G/A	—	likely benign
rs1406447664	6:33,132,151	A/C	—	uncertain significance
rs140017436	6:33,132,155	G/A	—	conflicting classifications of pathogenicity
rs931608129	6:33,132,159	G/A	—	likely benign
rs1259253827	6:33,132,161	G/C	—	likely benign
rs1350210126	6:33,132,162	A/G	—	uncertain significance
rs766589324	6:33,132,163	C/T	—	conflicting classifications of pathogenicity
rs372110441	6:33,132,164	G/A	—	likely benign
rs755392165	6:33,132,170	G/A	—	likely benign
rs1487325262	6:33,132,171	T/A	—	conflicting classifications of pathogenicity

Showing 100 of 2,150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.