Col11a2 Gene Search Result

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2 records found for search term Col11a2

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1350403	COL11A2	collagen type XI alpha 2 chain	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 ... (more) 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]	6	33162694	33193519	Human	516	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1343549	COL11A2P1	collagen type XI alpha 2 pseudogene 1		6	33103693	33107144	Human		symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, pseudo, INFERRED [RefSeq]