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Gene Review

COL4A6  -  collagen, type IV, alpha 6

Homo sapiens

Synonyms: CXDELq22.3, Collagen alpha-6(IV) chain, DELXq22.3, DFNX6
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Disease relevance of COL4A6


High impact information on COL4A6


Biological context of COL4A6

  • The exon size pattern of COL4A6 is highly homologous with that of the human and mouse COL4A2 genes, with 27 of the 46 exons of COL4A6 being identical in size between the genes [10].
  • A 3.8-kb fragment upstream of COL4A6 directs reporter gene expression in the esophagus, stomach, and duodenum, whereas a 13.8-kb fragment directs expression in the esophagus only [11].
  • The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters [8].
  • The alpha5(IV) gene (COL4A5) and the alpha6(IV) gene (COL4A6) are on chromosome Xq22 and are regulated by a bidirectional promoter [3].
  • The detailed structure of the COL4A6 gene and the high heterozygosity microsatellite markers located within the gene will be useful for linkage analysis and familial diagnosis of diseases caused by mutations of this gene [12].

Anatomical context of COL4A6


Other interactions of COL4A6

  • The gene organization of the region coding for the NCl domain is similar to that of the human genes COL4A2, COL4A4 and COL4A6 [17].
  • Conditions for polymerase chain-reaction amplification of ten exon regions (Exons 3, 7, 11 through 13, and 15 through 19) of the collagen COL4A5 gene and four exon regions (Exons 2, and 12 through 14) of the COL4A6 gene were sequenced and established in this study [18].

Analytical, diagnostic and therapeutic context of COL4A6


  1. The clinical spectrum of type IV collagen mutations. Lemmink, H.H., Schröder, C.H., Monnens, L.A., Smeets, H.J. Hum. Mutat. (1997) [Pubmed]
  2. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan, C.E. Medicine (Baltimore) (1999) [Pubmed]
  3. Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region. Ikeda, K., Iyama, K., Ishikawa, N., Egami, H., Nakao, M., Sado, Y., Ninomiya, Y., Baba, H. Am. J. Pathol. (2006) [Pubmed]
  4. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. Guo, C., Van Damme, B., Vanrenterghem, Y., Devriendt, K., Cassiman, J.J., Marynen, P. J. Clin. Invest. (1995) [Pubmed]
  5. Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease. Guillem, P., Delcambre, F., Cohen-Solal, L., Triboulet, J.P., Antignac, C., Heidet, L., Quandalle, P. Gastroenterology (2001) [Pubmed]
  6. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., Reeders, S.T. Science (1993) [Pubmed]
  7. Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. Ueki, Y., Naito, I., Oohashi, T., Sugimoto, M., Seki, T., Yoshioka, H., Sado, Y., Sato, H., Sawai, T., Sasaki, F., Matsuoka, M., Fukuda, S., Ninomiya, Y. Am. J. Hum. Genet. (1998) [Pubmed]
  8. The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. Sugimoto, M., Oohashi, T., Ninomiya, Y. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  9. Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region. Segal, Y., Zhuang, L., Rondeau, E., Sraer, J.D., Zhou, J. J. Biol. Chem. (2001) [Pubmed]
  10. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis. Zhang, X., Zhou, J., Reeders, S.T., Tryggvason, K. Genomics (1996) [Pubmed]
  11. Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice. Herzog, C., Zhuang, L., Gorgan, L., Segal, Y., Zhou, J. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  12. Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes. Oohashi, T., Ueki, Y., Sugimoto, M., Ninomiya, Y. J. Biol. Chem. (1995) [Pubmed]
  13. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. Ninomiya, Y., Kagawa, M., Iyama, K., Naito, I., Kishiro, Y., Seyer, J.M., Sugimoto, M., Oohashi, T., Sado, Y. J. Cell Biol. (1995) [Pubmed]
  14. Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome. Sasaki, S., Zhou, B., Fan, W.W., Kim, Y., Barker, D.F., Denison, J.C., Atkin, C.L., Gregory, M.C., Zhou, J., Segal, Y., Sado, Y., Ninomiya, Y., Michael, A.F., Kashtan, C.E. Matrix Biol. (1998) [Pubmed]
  15. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis. Zheng, K., Harvey, S., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. Am. J. Pathol. (1999) [Pubmed]
  16. YAC contigs mapping the human COL4A5 and COL4A6 genes and DXS118 within Xq21.3-q22. Srivastava, A.K., Featherstone, T., Wein, K., Schlessinger, D. Genomics (1995) [Pubmed]
  17. Type IV collagen in sponges, the missing link in basement membrane ubiquity. Boute, N., Exposito, J.Y., Boury-Esnault, N., Vacelet, J., Noro, N., Miyazaki, K., Yoshizato, K., Garrone, R. Biol. Cell (1996) [Pubmed]
  18. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. Heiskari, N., Zhang, X., Zhou, J., Leinonen, A., Barker, D., Gregory, M., Atkin, C.L., Netzer, K.O., Weber, M., Reeders, S., Grönhagen-Riska, C., Neumann, H.P., Trembath, R., Tryggvason, K. J. Am. Soc. Nephrol. (1996) [Pubmed]
  19. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Renieri, A., Galli, L., Grillo, A., Bruttini, M., Neri, T., Zanelli, P., Rizzoni, G., Massella, L., Sessa, A., Meroni, M. Am. J. Med. Genet. (1995) [Pubmed]
  20. Phenotypic and genotypic features of Alport syndrome in Chinese children. Wang, F., Ding, J., Guo, S., Yang, J. Pediatr. Nephrol. (2002) [Pubmed]
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