collagen 2 alpha-1; contains: chondrocalcin (COL2A1)

Function

• type 2 collagen is specific for cartilagenous tissues
  • essential for the normal embryonic development of the skeleton, for linear growth & for the ability of cartilage to resist compressive forces
• Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
• Pro at the second position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some of the chains
• the N-telopeptide is covalently linked to the helical COL2 region of collagen 9 alpha-1, collagen 9 alpha-2(IX) & collagen 9 alpha-3
• the C-telopeptide is covalently linked to an another site in the helical region of collagen 9 alpha-3(
• homotrimers of collagen 2 alpha-1

Structure

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

Compartment

• secreted, extracellular space, extracellular matrix (putative)

Alternative splicing

named isoforms=3

Expression

• isoform 2
  • highly expressed in juvenile chondrocytes
  • low expression in fetal chondrocytes

Pathology

• defects in COL2A1 are the cause of
  • spondyloepiphyseal dysplasia congenital type
  • spondyloepimetaphyseal dysplasia Strudwick type
  • achondrogenesis type 2
  • Legg-Calve-Perthes disease
  • metatropic dwarfism type 2 (Kniest dysplasia)
  • osteoarthritis with mild chondrodysplasia
  • platyspondylic lethal skeletal dysplasia Torrance type
  • multiple epiphyseal dysplasia with myopia & conductive deafness
  • spondyloperipheral dysplasia
  • Stickler syndrome type 1
  • Czech dysplasia
• defects in COL2A1 are a cause of
  • primary avascular osteonecrosis of femoral head
  • rhegmatogenous retinal detachment autosomal dominant

More general terms

• collagen subunit

Component of

• collagen type-2

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1280
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1280
• OMIM: https://mirror.omim.org/entry/108300
• OMIM: https://mirror.omim.org/entry/120140
• OMIM: https://mirror.omim.org/entry/132450
• OMIM: https://mirror.omim.org/entry/150600
• OMIM: https://mirror.omim.org/entry/151210
• OMIM: https://mirror.omim.org/entry/156550
• OMIM: https://mirror.omim.org/entry/183900
• OMIM: https://mirror.omim.org/entry/184250
• OMIM: https://mirror.omim.org/entry/200610
• OMIM: https://mirror.omim.org/entry/271700
• OMIM: https://mirror.omim.org/entry/604864
• OMIM: https://mirror.omim.org/entry/608805
• OMIM: https://mirror.omim.org/entry/609162
• OMIM: https://mirror.omim.org/entry/609508
• UniProt: http://www.uniprot.org/uniprot/P02458.html