External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of COL11A2 |
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. |
Community Annotation of COL11A2 Add / Edit COL11A2: Annotations
No community annotations yet for COL11A2.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details