Entrez gene ID | | 1302 |
Official gene symbol | | COL11A2 |
Full name | | collagen, type XI, alpha 2 |
Aliases | | ,DFNA13,DFNB53,HKE5,PARP,STL3, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6p21.3 |
Gene position | | 33160245 - 33130469 Map Viewer |
Gene orientation | | minus |
Gene size | | 29777 bp |
Gene sequence |
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OMIM ID | | 120290 |
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