collagen 1 alpha-2 (COL1A2)

Function

• type 1 collagen is a member of group 1 collagen (fibrillar forming collagen)
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• trimers of one collagenn 1 alpha-2 & two collagen 1 alpha-1

Structure

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

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Expression

• forms the fibrils of tendon, ligaments & bones
• in bones the fibrils are mineralized with Ca+2 hydroxyapatite

Pathology

• defects in COL1A2 are the cause of
  • Ehlers-Danlos syndrome type 7B
  • Ehlers-Danlos syndrome cardiac valvular form (autosomal recessive)
• defects in COL1A2 are a cause of
  • osteogenesis imperfecta type 1
  • osteogenesis imperfecta type 2
  • osteogenesis imperfecta type 3
  • osteogenesis imperfecta type 4
• chromosomal translocation t(7;8)(p22;q13) involving COL1A2 with PLAG1 may be a cause of lipoblastoma

Notes

collagen type I alpha 2 (COL1A2)

More general terms

• collagen subunit

Component of

• collagen type-1

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1278
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1278
• OMIM: https://mirror.omim.org/entry/120160
• OMIM: https://mirror.omim.org/entry/130060
• OMIM: https://mirror.omim.org/entry/166200
• OMIM: https://mirror.omim.org/entry/166210
• OMIM: https://mirror.omim.org/entry/166220
• OMIM: https://mirror.omim.org/entry/225320
• OMIM: https://mirror.omim.org/entry/259420
• UniProt: http://www.uniprot.org/uniprot/P08123.html