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

Related

COL2A1 gene

General

collagen subunit

Properties

SIZE: entity length = 1487 aa MW = 142 kD MOTIF: signal sequence {1-25} VWFC domain {32-90} proteolytic site {181-182} Triple-helical region {201-1214} Nonhelical region (C-terminal) {1215-1241} proteolytic site {1241-1242} Fibrillar collagen NC1 {1253-1487} MOTIF: N-glycosylation site {N1388}

Database Correlations

OMIM correlations UniProt P02458 PFAM correlations Entrez Gene 1280 Kegg hsa:1280

References

  1. UniProt :accession P02458
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL2A1
  3. Andrews BS. Is the WKS motif the tissue-factor binding site for coagulation factor VII? Trends Biochem Sci. 1991 Jan;16(1):31-6. Review. PMID: 2053135
  4. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  5. OMIM :accession 120140
  6. Entrez Gene :accession 1280

Component-of

collagen type-2