collagen 5 alpha-2 (COL5A2)

Function

• type 5 collagen is a member of group 1 collagen (fibrillar forming collagen)
• it is a minor connective tissue component of nearly ubiquitous distribution
• type 5 collagen binds to DNA, heparan sulfate, thrombospondin, heparin, & insulin
• type 5 collagen is a key determinant in the assembly of tissue-specific matrices (putative)
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• trimers of two COL5A1 & one COL5A2 chains in most tissues
• trimers of one COL5A1, oneCOL5A2, & one COL5A3 in placenta

Structure

• belongs to the fibrillar collagen family
• contains 1 fibrillar collagen NC1 domain
• contains 1 VWFC domain

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Pathology

• defects in COL5A2 are a cause of
  • Ehlers-Danlos syndrome type 1
  • Ehlers-Danlos syndrome type 2

More general terms

• collagen subunit
• glycoprotein

Component of

• collagen type-5

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1290
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1290
• OMIM: https://mirror.omim.org/entry/120190
• OMIM: https://mirror.omim.org/entry/130000
• OMIM: https://mirror.omim.org/entry/130010
• UniProt: http://www.uniprot.org/uniprot/P05997.html