Aliases for COL11A2 Gene
External Ids for COL11A2 Gene
Previous HGNC Symbols for COL11A2 Gene
Previous GeneCards Identifiers for COL11A2 Gene
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]
GeneCards Summary for COL11A2 Gene
COL11A2 (Collagen Type XI Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL11A2 include Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant and Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot for COL11A2 Gene
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.