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Gene Review

COL9A2  -  collagen, type IX, alpha 2

Homo sapiens

Synonyms: Collagen alpha-2(IX) chain, DJ39G22.4, EDM2, MED, STL5
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Disease relevance of COL9A2


High impact information on COL9A2

  • A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) [6].
  • An allele of COL9A2 associated with intervertebral disc disease [7].
  • A tryptophan (Trp) allele (Trp2) was recently discovered in the COL9A2 gene that is associated with dominantly inherited LDD but is only present in about 4% of Finnish patients with LDD [8].
  • Because of the exclusion of the EDM1 and EDM2 loci in some families, the existence of a third locus has been postulated [9].
  • Type IX collagen is a heterotrimer of pro-alpha chains derived from three distinct genes-COL9A1, COL9A2, and COL9A3 [10].

Chemical compound and disease context of COL9A2


Biological context of COL9A2


Associations of COL9A2 with chemical compounds

  • Previously, a dominantly inherited defect was identified in the COL9A2 gene that changed a codon for glutamine to that for tryptophan in the alpha2 chain of collagen IX (Trp2 allele) [16].

Other interactions of COL9A2


Analytical, diagnostic and therapeutic context of COL9A2


  1. Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. Spayde, E.C., Joshi, A.P., Wilcox, W.R., Briggs, M., Cohn, D.H., Olsen, B.R. Matrix Biol. (2000) [Pubmed]
  2. Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms. Solovieva, S., Lohiniva, J., Leino-Arjas, P., Raininko, R., Luoma, K., Ala-Kokko, L., Riihimäki, H. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society. (2006) [Pubmed]
  3. COL9A2 allelotypes in intervertebral disc disease. Wrocklage, C., Wassmann, H., Paulus, W. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  4. Molecular characterization of the equine collagen, type IX, alpha 2 (COL9A2) gene on horse chromosome 2p16-->p15. Boneker, C., Kuiper, H., Dr??gem??ller, C., Chowdhary, B.P., Distl, O. Cytogenet. Genome Res. (2006) [Pubmed]
  5. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Mäkitie, O., Savarirayan, R., Bonafé, L., Robertson, S., Susic, M., Superti-Furga, A., Cole, W.G. Am. J. Med. Genet. A (2003) [Pubmed]
  6. A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Muragaki, Y., Mariman, E.C., van Beersum, S.E., Perälä, M., van Mourik, J.B., Warman, M.L., Olsen, B.R., Hamel, B.C. Nat. Genet. (1996) [Pubmed]
  7. An allele of COL9A2 associated with intervertebral disc disease. Annunen, S., Paassilta, P., Lohiniva, J., Perälä, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kröger, H., Lähde, S., Vanharanta, H., Ryhänen, L., Göring, H.H., Ott, J., Prockop, D.J., Ala-Kokko, L. Science (1999) [Pubmed]
  8. Identification of a novel common genetic risk factor for lumbar disk disease. Paassilta, P., Lohiniva, J., Göring, H.H., Perälä, M., Räinä, S.S., Karppinen, J., Hakala, M., Palm, T., Kröger, H., Kaitila, I., Vanharanta, H., Ott, J., Ala-Kokko, L. JAMA (2001) [Pubmed]
  9. COL9A3: A third locus for multiple epiphyseal dysplasia. Paassilta, P., Lohiniva, J., Annunen, S., Bonaventure, J., Le Merrer, M., Pai, L., Ala-Kokko, L. Am. J. Hum. Genet. (1999) [Pubmed]
  10. Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia. Holden, P., Canty, E.G., Mortier, G.R., Zabel, B., Spranger, J., Carr, A., Grant, M.E., Loughlin, J.A., Briggs, M.D. Am. J. Hum. Genet. (1999) [Pubmed]
  11. Inhibition of proliferation and induction of differentiation in medulloblastoma- and astrocytoma-derived cell lines with phenylacetate. Stockhammer, G., Manley, G.T., Johnson, R., Rosenblum, M.K., Samid, D., Lieberman, F.S. J. Neurosurg. (1995) [Pubmed]
  12. Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. Pihlajamaa, T., Vuoristo, M.M., Annunen, S., Perälä, M., Prockop, D.J., Ala-Kokko, L. Matrix Biol. (1998) [Pubmed]
  13. Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1. Perälä, M., Hänninen, M., Hästbacka, J., Elima, K., Vuorio, E. FEBS Lett. (1993) [Pubmed]
  14. Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). Fiedler, J., Stöve, J., Heber, F., Brenner, R.E. Am. J. Med. Genet. (2002) [Pubmed]
  15. Mechanically stretched chromosomes as targets for high-resolution FISH mapping. Laan, M., Kallioniemi, O.P., Hellsten, E., Alitalo, K., Peltonen, L., Palotie, A. Genome Res. (1995) [Pubmed]
  16. Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica. Karppinen, J., Pääkkö, E., Räinä, S., Tervonen, O., Kurunlahti, M., Nieminen, P., Ala-Kokko, L., Malmivaara, A., Vanharanta, H. Spine. (2002) [Pubmed]
  17. Genetic heterogeneity in multiple epiphyseal dysplasia. Deere, M., Blanton, S.H., Scott, C.I., Langer, L.O., Pauli, R.M., Hecht, J.T. Am. J. Hum. Genet. (1995) [Pubmed]
  18. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Briggs, M.D., Choi, H., Warman, M.L., Loughlin, J.A., Wordsworth, P., Sykes, B.C., Irven, C.M., Smith, M., Wynne-Davies, R., Lipson, M.H. Am. J. Hum. Genet. (1994) [Pubmed]
  19. Association study of COL9A2 with lumbar disc disease in the Japanese population. Seki, S., Kawaguchi, Y., Mori, M., Mio, F., Chiba, K., Mikami, Y., Tsunoda, T., Kubo, T., Toyama, Y., Kimura, T., Ikegawa, S. J. Hum. Genet. (2006) [Pubmed]
  20. The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population. Takata, Y., Matsui, Y., Hamada, D., Goto, T., Kubo, T., Egawa, H., Nakano, S., Shinomiya, F., Inoue, H., Itakura, M., Yasui, N. Clin. Rheumatol. (2006) [Pubmed]
  21. The genes encoding alpha 2(IX) collagen (COL9A2) map to human chromosome 1p32.3-p33 and mouse chromosome 4. Warman, M.L., McCarthy, M.T., Perälä, M., Vuorio, E., Knoll, J.H., McDaniels, C.N., Mayne, R., Beier, D.R., Olsen, B.R. Genomics (1994) [Pubmed]
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