Collagen, type II, alpha 1

Collagen, type II, alpha 1

Chordin-like Cysteine-rich Repeat (VWC module) from Collagen IIA. PDB 1u5m [1]
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL2A1 ; ANFH; AOM; COL11A3; SEDC; STL1
External IDs OMIM: 120140 HomoloGene: 55607 GeneCards: COL2A1 Gene
Orthologs
Species Human Mouse
Entrez 1280 12824
Ensembl ENSG00000139219 ENSMUSG00000022483
UniProt P02458 P28481
RefSeq (mRNA) NM_001844 NM_001113515
RefSeq (protein) NP_001835 NP_001106987
Location (UCSC) Chr 12:
47.97 – 48 Mb
Chr 15:
97.98 – 98 Mb
PubMed search

Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.[2] Type II collagen, which adds structure and strength to connective tissues, is found primarily in cartilage, the jelly-like substance that fills the eyeball (the vitreous), the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). Three pro-alpha1(II) chains twist together to form a triple-stranded, ropelike procollagen molecule. These procollagen molecules must be processed by enzymes in the cell. Once these molecules are processed, they leave the cell and arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-linkages result in the formation of very strong mature type II collagen fibers.

The COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527.

Related conditions

References

  1. O'Leary, J. M.; Hamilton, J. M.; Deane, C. M.; Valeyev, N. V.; Sandell, L. J.; Downing, A. K. (2004). "Solution Structure and Dynamics of a Prototypical Chordin-like Cysteine-rich Repeat (von Willebrand Factor Type C Module) from Collagen IIA". Journal of Biological Chemistry 279 (51): 53857–53866. doi:10.1074/jbc.M409225200. PMID 15466413.
  2. "Entrez Gene: COL2A1 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)".

External links

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