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Gene Review

COL9A3  -  collagen, type IX, alpha 3

Homo sapiens

Synonyms: Collagen alpha-3(IX) chain, DJ885L7.4.1, EDM3, FLJ90759, IDD, ...
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Disease relevance of COL9A3


Psychiatry related information on COL9A3

  • Patients with autonomic symptoms may have transitory IGT as a concomitant manifestation of life stress; glucose tolerance testing of them appears unwarranted in the absence of other compelling symptoms or a family history of IDD [6].
  • Psychologic measures were taken by means of a personality inventory (NVM, Dutch short form of the MMPI), a symptom checklist (SLC-90), and a depression inventory (IDD) [7].
  • Within treatments, differences between completers and dropouts in minority status and the prevalence of anxiety disorders were most pronounced in MED [8].

High impact information on COL9A3

  • A burgeoning number of antigenic targets of the islet cell autoimmunity in IDD have been identified, and more can be anticipated through improved methods for their identification [9].
  • The muscle capillary basement membrane width was increased to a similar extent in the insulin-dependent diabetics (control, 1,781 +/- 46 vs. IDD, 2,287 +/- 144 A, P less than 0.001) and in the Vacor diabetic group (2,320 +/- 149 A, P less than 0.001) [10].
  • Genetic linkage to the COL9A3 locus on chromosome 20q13.3 was established with a peak log(10) odds ratio for linkage score of 3.87 for markers D20S93 and D20S164 [3].
  • Direct sequencing of genomic DNA confirmed the presence of a splice acceptor mutation in intron 2 of the COL9A3 gene (intervening sequence 2, G-A, -1) only in affected family members [3].
  • Type IX collagen is a heterotrimer of pro-alpha chains derived from three distinct genes-COL9A1, COL9A2, and COL9A3 [11].

Chemical compound and disease context of COL9A3

  • AR was cocrystallized at pH 5.0 with its cofactor NADP+ and inhibitor IDD 594, a therapeutic candidate for the treatment of diabetic complications [12].

Biological context of COL9A3


Anatomical context of COL9A3

  • Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms [2].
  • Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients [4].
  • cDNA microarray analysis indicated that COL9A1 and COL9A3 are highly expressed in the human inner ear, suggesting that type IX collagen has a crucial functional role in the inner ear [17].
  • Given the complex and multiple physiological functions of islet cells and the continuous variation in their activity, it is reasonable to speculate that the speed of the progression to IDD could vary between individuals with respect to their insulin needs and the relative activities of their islets [9].
  • The total weight of the pancreas was markedly decreased in IDD because of an almost selective atrophy of the lobe poor in PP cells; the relative weight of the lobe rich in PP cells was thus much higher than that in control subjects [18].

Associations of COL9A3 with chemical compounds

  • OBJECTIVES: To determine the contribution of COL9A2 and COL9A3 Tryptophan polymorphisms to intervertebral disc disease development in a genetically heterogeneous, Southern European population compared to previous Finnish studies [19].
  • This study examines the feasibility of deriving the 24-h insulin requirement of insulin-dependent diabetic patients who were devoid of any endogenous insulin release (IDD) from the insulin-production rate (IPR) of healthy man (basal, 17 mU/min; stimulated 1.35 U/12.5 g glucose) [20].
  • In neurochemical and electrophysiological correlates of antipsychotic drug action, SSR180711 increased extracellular levels of dopamine in the prefrontal cortex (MED: 1 mg/kg) and enhanced (3 mg/kg) spontaneous firing of retrosplenial cortex neurons in rats [21].
  • Two X-ray data sets for a complex of human aldose reductase (h-AR) with the inhibitor IDD 594 and the cofactor NADP(+) were collected from two different parts of the same crystal to a resolution of 0.81 A at 15 and 60 K using cold helium gas as cryogen [22].
  • All three variables increased during the arginine infusion in all groups, with the exception that CPR remained unchanged in the IDD [23].

Other interactions of COL9A3

  • Type IX collagen is composed of three polypeptides derived from the human genes COL9A1, COL9A2, and COL9A3 that assemble to form a mature collagen molecule with the structure alpha 1(IX)alpha 2(IX)alpha 3(IX) [24].
  • The direct-sequencing method was applied to the COL9A3 gene in 159 non-syndromic sensorineural deafness patients and 150 normal controls [4].
  • Our studies have identified two susceptibility loci of OA: COL2A1 and COL9A3 [25].

Analytical, diagnostic and therapeutic context of COL9A3


  1. 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]
  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. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Bönnemann, C.G., Cox, G.F., Shapiro, F., Wu, J.J., Feener, C.A., Thompson, T.G., Anthony, D.C., Eyre, D.R., Darras, B.T., Kunkel, L.M. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  4. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients. Asamura, K., Abe, S., Fukuoka, H., Nakamura, Y., Usami, S. Auris, nasus, larynx. (2005) [Pubmed]
  5. COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction. Solovieva, S., Lohiniva, J., Leino-Arjas, P., Raininko, R., Luoma, K., Ala-Kokko, L., Riihimäki, H. Spine. (2002) [Pubmed]
  6. Prognosis of imparied glucose tolerance in children with stress hyperglycemia, symptoms of hypoglycemia, or asymptomatic glucosuria. Rosenbloom, A.L., Hunt, S.S. J. Pediatr. (1982) [Pubmed]
  7. Personality variables involved in chronic prostatitis. de la Rosette, J.J., Ruijgrok, M.C., Jeuken, J.M., Karthaus, H.F., Debruyne, F.M. Urology (1993) [Pubmed]
  8. Dropouts versus completers among chronically depressed outpatients. Arnow, B.A., Blasey, C., Manber, R., Constantino, M.J., Markowitz, J.C., Klein, D.N., Thase, M.E., Kocsis, J.H., Rush, A.J. Journal of affective disorders (2007) [Pubmed]
  9. Islet cell autoantigens in insulin-dependent diabetes. Atkinson, M.A., Maclaren, N.K. J. Clin. Invest. (1993) [Pubmed]
  10. Muscle capillary basement membrane width in patients with vacor-induced diabetes mellitus. Feingold, K.R., Lee, T.H., Chung, M.Y., Siperstein, M.D. J. Clin. Invest. (1986) [Pubmed]
  11. 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]
  12. Ultrahigh resolution drug design I: details of interactions in human aldose reductase-inhibitor complex at 0.66 A. Howard, E.I., Sanishvili, R., Cachau, R.E., Mitschler, A., Chevrier, B., Barth, P., Lamour, V., Van Zandt, M., Sibley, E., Bon, C., Moras, D., Schneider, T.R., Joachimiak, A., Podjarny, A. Proteins (2004) [Pubmed]
  13. Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen. Karppinen, J., Pääkkö, E., Paassilta, P., Lohiniva, J., Kurunlahti, M., Tervonen, O., Nieminen, P., Göring, H.H., Malmivaara, A., Vanharanta, H., Ala-Kokko, L. Radiology. (2003) [Pubmed]
  14. Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3. Tiller, G.E., Warman, M.L., Gong, Y., Knoll, J.H., Mayne, R., Brewton, R.G. Cytogenet. Cell Genet. (1998) [Pubmed]
  15. Collagen polymorphisms of the intervertebral disc. Eyre, D.R., Matsui, Y., Wu, J.J. Biochem. Soc. Trans. (2002) [Pubmed]
  16. Comparison of left ventricular function in insulin- and non-insulin-dependent diabetes mellitus. Ferraro, S., Perrone-Filardi, P., Maddalena, G., Desiderio, A., Gravina, E., Turco, S., Chiariello, M. Am. J. Cardiol. (1993) [Pubmed]
  17. Type IX collagen is crucial for normal hearing. Asamura, K., Abe, S., Imamura, Y., Aszodi, A., Suzuki, N., Hashimoto, S., Takumi, Y., Hayashi, T., Fässler, R., Nakamura, Y., Usami, S. Neuroscience (2005) [Pubmed]
  18. The pancreatic polypeptide cells in the human pancreas: the effects of age and diabetes. Rahier, J., Wallon, J., Loozen, S., Lefevre, A., Gepts, W., Haot, J. J. Clin. Endocrinol. Metab. (1983) [Pubmed]
  19. The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients. Kales, S.N., Linos, A., Chatzis, C., Sai, Y., Halla, M., Nasioulas, G., Christiani, D.C. Spine. (2004) [Pubmed]
  20. Insulin production rate in normal man as an estimate for calibration of continuous intravenous insulin infusion in insulin-dependent diabetic patients. Waldhäusl, W.K., Bratusch-Marrain, P.R., Francesconi, M., Nowotny, P., Kiss, A. Diabetes Care (1982) [Pubmed]
  21. SSR180711, a Novel Selective alpha7 Nicotinic Receptor Partial Agonist: (II) Efficacy in Experimental Models Predictive of Activity Against Cognitive Symptoms of Schizophrenia. Pichat, P., Bergis, O.E., Terranova, J.P., Urani, A., Duarte, C., Santucci, V., Gueudet, C., Voltz, C., Steinberg, R., Stemmelin, J., Oury-Donat, F., Avenet, P., Griebel, G., Scatton, B. Neuropsychopharmacology (2007) [Pubmed]
  22. Ultrahigh-resolution study of protein atomic displacement parameters at cryotemperatures obtained with a helium cryostat. Petrova, T., Ginell, S., Mitschler, A., Hazemann, I., Schneider, T., Cousido, A., Lunin, V.Y., Joachimiak, A., Podjarny, A. Acta Crystallogr. D Biol. Crystallogr. (2006) [Pubmed]
  23. Endocrine pancreatic function in insulin-dependent diabetic pregnant women. Fiore, R., Maldonato, A., Zicari, D., Pimpinella, G., Gargiulo, P., Tinelli, F.P., Arachi, S., Pachi, A., Fallucca, F. Acta endocrinologica. Supplementum. (1986) [Pubmed]
  24. Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3. Brewton, R.G., Wood, B.M., Ren, Z.X., Gong, Y., Tiller, G.E., Warman, M.L., Lee, B., Horton, W.A., Olsen, B.R., Baker, J.R. Genomics (1995) [Pubmed]
  25. Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population. Ikeda, T., Mabuchi, A., Fukuda, A., Kawakami, A., Ryo, Y., Yamamoto, S., Miyoshi, K., Haga, N., Hiraoka, H., Takatori, Y., Kawaguchi, H., Nakamura, K., Ikegawa, S. J. Bone Miner. Res. (2002) [Pubmed]
  26. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. Lohiniva, J., Paassilta, P., Seppänen, U., Vierimaa, O., Kivirikko, S., Ala-Kokko, L. Am. J. Med. Genet. (2000) [Pubmed]
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