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

Related

COL1A2 gene

General

collagen subunit

Properties

SIZE: entity length = 1366 aa MW = 129 kD MOTIF: signal sequence {1-24} Fibrillar collagen NC1 {1133-1366} MOTIF: N-glycosylation site {N1267}

Database Correlations

OMIM correlations MORBIDMAP 120160 UniProt P08123 PFAM correlations Entrez Gene 1278 Kegg hsa:1278

References

  1. UniProt :accession P08123
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/COL1A2ID411ch7q22.html
  3. Osteogenesis imperfecta variant database http://oi.gene.le.ac.uk/home.php?select_db=COL1A2
  4. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL1A2
  5. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  6. OMIM :accession 120160
  7. Entrez Gene :accession 1278

Component-of

collagen type-1