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collagen 9 alpha-2 (COL9A2)
Function:
- structural component of hyaline cartilage & vitreous of the eye
- covalently linked to the telopeptides of type 2 collagen by Lys-derived cross-links
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- heterotrimer of COL9A1, COL9A2 & COL9A3
Structure:
- belongs to the fibril-associated collagens with interrupted helices (FACIT) family
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Pathology:
- defects in COL9A2 are the cause of
a) multiple epiphyseal dysplasia type 2
b) Stickler syndrome type 5
- defects in COL9A2 may be a cause of susceptibility to lumbar disc disease
General
collagen subunit
Properties
SIZE: entity length = 689 aa
MW = 65 kD
MOTIF: signal sequence {1-23}
Triple-helical region 4 (COL4) {27-163}
Nonhelical region 4 (NC4) {164-180}
MOTIF: Ser glycosylation site {S169}
cysteine residue {C174}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C178}
MODIFICATION: cysteine residue {C-INTERCHAIN}
Triple-helical region 3 (COL3) {181-519}
Nonhelical region 3 (NC3) {520-549}
Triple-helical region 2 (COL2) {550-632}
Nonhelical region 2 (NC2) {633-634}
Triple-helical region 1 (COL1) {635-664}
Nonhelical region 1 (NC1) {665-689}
Database Correlations
OMIM correlations
UniProt Q14055
Pfam PF01391
Entrez Gene 1298
Kegg hsa:1298
References
- UniProt :accession Q14055
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL9A2
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- Entrez Gene :accession 1298
Component-of
collagen type-9 (FACIT collagen)