| Background: | 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. |
| UniProt Protein Function: | May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. |
| NCBI 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] |
| UniProt Code: | P13942 |
| NCBI GenInfo Identifier: | 374095517 |
| NCBI Gene ID: | 1302 |
| NCBI Accession: | P13942.5 |
| UniProt Secondary Accession: | P13942,Q07751, Q13271, Q13272, Q13273, Q5JP94, Q5SUI8 Q7Z6C3, Q99866, Q9UIP9, A6NLX2, E7ER90, |
| UniProt Related Accession: | P13942 |
| Molecular Weight: | 172kDa |
| NCBI Full Name: | Collagen alpha-2(XI) chain |
| NCBI Synonym Full Names: | collagen type XI alpha 2 chain |
| NCBI Official Symbol: | COL11A2 |
| NCBI Official Synonym Symbols: | HKE5; PARP; STL3; FBCG2; DFNA13; DFNB53 |
| NCBI Protein Information: | collagen alpha-2(XI) chain |
| UniProt Protein Name: | Collagen alpha-2(XI) chain |
| Protein Family: | Collagen |
| UniProt Gene Name: | COL11A2 |
