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collagen 11 alpha-2 (COL11A2)

Function: - may play a role in fibrillogenesis by controlling lateral growth of collagen 2 fibrils - Pro at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains - a disulfide-bonded peptide proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing & is subsequently retained in the cartilage matrix from which it can be isolated - trimers composed of three different chains: COL11A1, COL11A2, & COL11A3 - COL11A3 is a post-translational modification of COL2A1 - COL5A1 can also be found instead of COL11A3 Structure: - belongs to the fibrillar collagen family - contains 1 fibrillar collagen NC1 domain - contains 1 TSP N-terminal (TSPN) domain Compartment: - secreted, extracellular space, extracellular matrix (putative) Alternative splicing: named isoforms=8 Pathology: - defects in COL11A2 are the cause of a) Stickler syndrome type 3 b) autosomal recessive otospondylomegaepiphyseal dysplasia c) Weissenbacher-Zweymueller syndrome d) deafness autosomal dominant type 13 e) deafness autosomal recessive type 53

Related

COL11A2 or collagen 11 alpha-2 gene Stickler syndrome or hereditary progressive arthroophthalmopathy

General

collagen subunit glycoprotein

Properties

SIZE: entity length = 1736 aa MW = 172 kD MOTIF: signal sequence {1-22} TSP N-terminal {31-214} Nonhelical region {215-486} MOTIF: glutamate-rich region {298-301} MOTIF: glutamate residue (SEVERAL) Triple-helical region {487-1500} Fibrillar collagen NC1 {1541-1735} MOTIF: N-glycosylation site {N1604}

Database Correlations

OMIM correlations UniProt P13942 PFAM correlations Entrez Gene 1302 Kegg hsa:1302

References

  1. UniProt :accession P13942
  2. Hereditary hearing loss homepage; Note: gene page http://webhost.ua.ac.be/hhh/
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COL11A2
  4. Molecular Cell Biology (2nd ed) Darnell J; Lodish H & Baltimore D (eds), Scientific American Books, WH Freeman, NY 1990, pg 906
  5. OMIM :accession 120290
  6. Entrez Gene :accession 1302

Component-of

collagen type-11