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collagen 5 alpha-2 (COL5A2)
Function:
- type 5 collagen is a member of group 1 collagen (fibrillar forming collagen)
- it is a minor connective tissue component of nearly ubiquitous distribution
- type 5 collagen binds to DNA, heparan sulfate, thrombospondin, heparin, & insulin
- type 5 collagen is a key determinant in the assembly of tissue-specific matrices (putative)
- Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains
- trimers of two COL5A1 & one COL5A2 chains in most tissues
- trimers of one COL5A1, oneCOL5A2, & one COL5A3 in placenta
Structure:
- belongs to the fibrillar collagen family
- contains 1 fibrillar collagen NC1 domain
- contains 1 VWFC domain
Compartment:
- secreted, extracellular space, extracellular matrix (putative)
Pathology:
- defects in COL5A2 are a cause of
a) Ehlers-Danlos syndrome type 1
b) Ehlers-Danlos syndrome type 2
General
collagen subunit
glycoprotein
Properties
SIZE: entity length = 1499 aa
MW = 145 kD
MOTIF: signal sequence {1-26}
VWFC domain {39-97}
Cell attachment {506-508}
Cell attachment {944-946}
Cell attachment {1067-1069}
Cell attachment {1070-1072}
Cell attachment {1100-1102}
Cell attachment {1127-1129}
Cell attachment {1136-1138}
N-glycosylation site {N1262}
Fibrillar collagen NC1 {1266-1499}
MOTIF: N-glycosylation site {N1400}
Database Correlations
OMIM correlations
UniProt P05997
PFAM correlations
Entrez Gene 1290
Kegg hsa:1290
References
- UniProt :accession P05997
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL5A2
- Molecular Cell Biology (2nd ed) Darnell J; Lodish H
& Baltimore D (eds), Scientific American Books,
WH Freeman, NY 1990, pg 906
- OMIM :accession 120190
- Entrez Gene :accession 1290
Component-of
collagen type-5