collagen 11 alpha-2 (COL11A2)

Function

• may play a role in fibrillogenesis by controlling lateral growth of collagen 2 fibrils
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• a disulfide-bonded peptide proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing & is subsequently retained in the cartilage matrix from which it can be isolated
• trimers composed of three different chains: COL11A1, COL11A2, & COL11A3
• COL11A3 is a post-translational modification of COL2A1
• COL5A1 can also be found instead of COL11A3

Structure

• belongs to the fibrillar collagen family
• contains 1 fibrillar collagen NC1 domain
• contains 1 TSP N-terminal (TSPN) domain

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

named isoforms=8

Pathology

• defects in COL11A2 are the cause of
  • Stickler syndrome type 3
  • autosomal recessive otospondylomegaepiphyseal dysplasia
  • Weissenbacher-Zweymueller syndrome
  • deafness autosomal dominant type 13
  • deafness autosomal recessive type 53

More general terms

• collagen subunit
• glycoprotein

Additional terms

• Stickler syndrome or hereditary progressive arthroophthalmopathy

Component of

• collagen type-11

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1302
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1302
• OMIM: https://mirror.omim.org/entry/120290
• OMIM: https://mirror.omim.org/entry/184840
• OMIM: https://mirror.omim.org/entry/215150
• OMIM: https://mirror.omim.org/entry/277610
• OMIM: https://mirror.omim.org/entry/601868
• OMIM: https://mirror.omim.org/entry/609706
• UniProt: http://www.uniprot.org/uniprot/P13942.html