COL11A2, collagen type XI alpha 2 chain

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 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]

• Gene Synonyms (collagen alpha-2(XI) chain, collagen, type XI, alpha 2, pro-a2 chain of collagen type XI, DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3,)
• NCBI Gene ID: 1302
• Species: Homo sapiens (Human)
• UNIPROT ID#>>H0YIS1
  UNIPROT ID#>>A0A0C4DFS1
  UNIPROT ID#>>Q4VXY6
  UNIPROT ID#>>P13942
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

collagen type XI alpha 2 chain interacts with:

• peptidylprolyl cis/trans isomerase, NIMA-interacting 1
  thymidine kinase 1
  WD repeat domain 20

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