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collagen 6 alpha-2 (COL6A2)
Function:
- collagen 6 acts as a cell-binding protein
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- trimers composed of three different chains: COL6A1, COL6A2, & COL6A3 or COL6A5 or COL6A6
- interacts with CSPG4
Structure:
- belongs to the type VI collagen family
- contains 3 VWFA domains
Compartment:
- secreted, extracellular space, extracellular matrix
- peripheral membrane; recruited on membranes by CSPG4
Alternative splicing: named isoforms=3; 2C2, 2C2A, 2C2A'
Pathology:
- defects in COL6A2 are a cause of
a) Bethlem myopathy
b) Ullrich congenital muscular dystrophy
- defects in COL6A2 are the cause of myosclerotic myopathy
General
collagen subunit
glycoprotein
phosphoprotein
Properties
SIZE: entity length = 1019 aa
MW = 109 kD
MOTIF: signal sequence {1-20}
Nonhelical region {21-256}
MOTIF: VWFA domain {46-234}
N-glycosylation site {N140}
Triple-helical region {257-590}
MOTIF: N-glycosylation site {N327}
Cell attachment {366-368}
Cell attachment {426-428}
Cell attachment {489-491}
Cell attachment {498-500}
Cell attachment {539-541}
Nonhelical region {591-1019}
MOTIF: Tyr phosphorylation site {Y597}
VWFA domain {615-805}
N-glycosylation site {N630}
Tyr phosphorylation site {Y665}
N-glycosylation site {N785}
VWFA domain {833-1014}
N-glycosylation site {N897}
N-glycosylation site {N954}
Database Correlations
OMIM correlations
UniProt P12110
PFAM correlations
Entrez Gene 1292
Kegg hsa:1292
References
- UniProt :accession P12110
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL6A2
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- OMIM :accession 120240
- Entrez Gene :accession 1292
Component-of
collagen type-6