collagen 9 alpha-2 (COL9A2)

Function

• structural component of hyaline cartilage & vitreous of the eye
• covalently linked to the telopeptides of type 2 collagen by Lys-derived cross-links
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• heterotrimer of COL9A1, COL9A2 & COL9A3

Structure

• belongs to the fibril-associated collagens with interrupted helices (FACIT) family

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Pathology

• defects in COL9A2 are the cause of
  • multiple epiphyseal dysplasia type 2
  • Stickler syndrome type 5
• defects in COL9A2 may be a cause of susceptibility to lumbar disc disease

More general terms

• collagen subunit

Component of

• collagen type-9 (FACIT collagen)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1298
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1298
• OMIM: https://mirror.omim.org/entry/120260
• OMIM: https://mirror.omim.org/entry/600204
• OMIM: https://mirror.omim.org/entry/603932
• OMIM: https://mirror.omim.org/entry/614284
• UniProt: http://www.uniprot.org/uniprot/Q14055.html