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Gene Review

COL4A3  -  collagen, type IV, alpha 3 (Goodpasture...

Homo sapiens

Synonyms: Collagen alpha-3(IV) chain, Goodpasture antigen
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Disease relevance of COL4A3


High impact information on COL4A3


Chemical compound and disease context of COL4A3


Biological context of COL4A3


Anatomical context of COL4A3

  • This study examined how often children with persistent familial hematuria were from families where hematuria segregated with the known genetic locus for the condition known as benign familial hematuria or thin basement membrane nephropathy (TBMN) at COL4A3/COL4A4 [15].
  • Immunohistochemical analysis using antibodies specific for the basement membrane collagen chains revealed the absence of the COL4A3 and COL4A4 chains throughout the membranous labyrinth [17].
  • Treatment with BX471 from weeks 6 to 10 of life improved survival of COL4A3-deficient mice, associated with less interstitial macrophages, apoptotic tubular epithelial cells, tubular atrophy, interstitial fibrosis, and less globally sclerotic glomeruli [4].
  • This question was addressed by treating COL4A3-deficient mice with BX471, an antagonist of chemokine receptor 1 (CCR1) that is known to block interstitial leukocyte recruitment [4].
  • Weekly injections of MSC from week 6 to 10 of life prevented the loss of peritubular capillaries and reduced markers of renal fibrosis, that is, interstitial volume, numbers of smooth muscle actin-positive interstitial cells, and interstitial collagen deposits as compared to saline-injected COL4A3-deficient mice [18].

Associations of COL4A3 with chemical compounds


Other interactions of COL4A3


Analytical, diagnostic and therapeutic context of COL4A3


  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. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Longo, I., Porcedda, P., Mari, F., Giachino, D., Meloni, I., Deplano, C., Brusco, A., Bosio, M., Massella, L., Lavoratti, G., Roccatello, D., Frascá, G., Mazzucco, G., Muda, A.O., Conti, M., Fasciolo, F., Arrondel, C., Heidet, L., Renieri, A., De Marchi, M. Kidney Int. (2002) [Pubmed]
  3. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Boye, E., Mollet, G., Forestier, L., Cohen-Solal, L., Heidet, L., Cochat, P., Grünfeld, J.P., Palcoux, J.B., Gubler, M.C., Antignac, C. Am. J. Hum. Genet. (1998) [Pubmed]
  4. Delayed chemokine receptor 1 blockade prolongs survival in collagen 4A3-deficient mice with Alport disease. Ninichuk, V., Gross, O., Reichel, C., Khandoga, A., Pawar, R.D., Ciubar, R., Segerer, S., Belemezova, E., Radomska, E., Luckow, B., de Lema, G.P., Murphy, P.M., Gao, J.L., Henger, A., Kretzler, M., Horuk, R., Weber, M., Krombach, F., Schlöndorff, D., Anders, H.J. J. Am. Soc. Nephrol. (2005) [Pubmed]
  5. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. Ding, J., Stitzel, J., Berry, P., Hawkins, E., Kashtan, C.E. J. Am. Soc. Nephrol. (1995) [Pubmed]
  6. Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. Cosgrove, D., Meehan, D.T., Grunkemeyer, J.A., Kornak, J.M., Sayers, R., Hunter, W.J., Samuelson, G.C. Genes Dev. (1996) [Pubmed]
  7. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. Lemmink, H.H., Nillesen, W.N., Mochizuki, T., Schröder, C.H., Brunner, H.G., van Oost, B.A., Monnens, L.A., Smeets, H.J. J. Clin. Invest. (1996) [Pubmed]
  8. Use of a monoclonal antibody in differential diagnosis of children with haematuria and hereditary nephritis. Savage, C.O., Reed, A., Kershaw, M., Pincott, J., Pusey, C.D., Dillon, M.J., Barratt, T.M., Lockwood, C.M. Lancet (1986) [Pubmed]
  9. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Krafchak, C.M., Pawar, H., Moroi, S.E., Sugar, A., Lichter, P.R., Mackey, D.A., Mian, S., Nairus, T., Elner, V., Schteingart, M.T., Downs, C.A., Kijek, T.G., Johnson, J.M., Trager, E.H., Rozsa, F.W., Mandal, M.N., Epstein, M.P., Vollrath, D., Ayyagari, R., Boehnke, M., Richards, J.E. Am. J. Hum. Genet. (2005) [Pubmed]
  10. Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen. Morrison, K.E., Mariyama, M., Yang-Feng, T.L., Reeders, S.T. Am. J. Hum. Genet. (1991) [Pubmed]
  11. Chronic Renal Failure and Shortened Lifespan in COL4A3+/- Mice: An Animal Model for Thin Basement Membrane Nephropathy. Beirowski, B., Weber, M., Gross, O. J. Am. Soc. Nephrol. (2006) [Pubmed]
  12. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Gross, O., Beirowski, B., Koepke, M.L., Kuck, J., Reiner, M., Addicks, K., Smyth, N., Schulze-Lohoff, E., Weber, M. Kidney Int. (2003) [Pubmed]
  13. A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice. Heidet, L., Borza, D.B., Jouin, M., Sich, M., Mattei, M.G., Sado, Y., Hudson, B.G., Hastie, N., Antignac, C., Gubler, M.C. Am. J. Pathol. (2003) [Pubmed]
  14. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan, C.E. Medicine (Baltimore) (1999) [Pubmed]
  15. Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. Rana, K., Wang, Y.Y., Powell, H., Jones, C., McCredie, D., Buzza, M., Udawela, M., Savige, J. Pediatr. Nephrol. (2005) [Pubmed]
  16. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Knebelmann, B., Forestier, L., Drouot, L., Quinones, S., Chuet, C., Benessy, F., Saus, J., Antignac, C. Hum. Mol. Genet. (1995) [Pubmed]
  17. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Cosgrove, D., Samuelson, G., Meehan, D.T., Miller, C., McGee, J., Walsh, E.J., Siegel, M. Hear. Res. (1998) [Pubmed]
  18. Multipotent mesenchymal stem cells reduce interstitial fibrosis but do not delay progression of chronic kidney disease in collagen4A3-deficient mice. Ninichuk, V., Gross, O., Segerer, S., Hoffmann, R., Radomska, E., Buchstaller, A., Huss, R., Akis, N., Schlöndorff, D., Anders, H.J. Kidney Int. (2006) [Pubmed]
  19. Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. Raya, A., Revert, F., Navarro, S., Saus, J. J. Biol. Chem. (1999) [Pubmed]
  20. Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen. Wieslander, J., Barr, J.F., Butkowski, R.J., Edwards, S.J., Bygren, P., Heinegård, D., Hudson, B.G. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  21. Properties of the collagenous domain of the alpha 3(IV) chain, the Goodpasture antigen, of lens basement membrane collagen. Selective cleavage of alpha (IV) chains with retention of their triple helical structure and noncollagenous domain. Gunwar, S., Noelken, M.E., Hudson, B.G. J. Biol. Chem. (1991) [Pubmed]
  22. Renal antigens in mercuric chloride induced, anti-GBM autoantibody glomerular disease. Makker, S.P., Kanalas, J.J. Kidney Int. (1990) [Pubmed]
  23. 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]
  24. Clinical and molecular diagnosis of Alport syndrome. Kashtan, C.E. Proc. Assoc. Am. Physicians (1995) [Pubmed]
  25. Genomic scans for selective sweeps using SNP data. Nielsen, R., Williamson, S., Kim, Y., Hubisz, M.J., Clark, A.G., Bustamante, C. Genome Res. (2005) [Pubmed]
  26. Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24. Prakash, S., Chung, K.W., Sinha, S., Barmada, M., Ellis, D., Ferrell, R.E., Finegold, D.N., Randhawa, P.S., Dinda, A., Vats, A. J. Am. Soc. Nephrol. (2003) [Pubmed]
  27. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Pescucci, C., Mari, F., Longo, I., Vogiatzi, P., Caselli, R., Scala, E., Abaterusso, C., Gusmano, R., Seri, M., Miglietti, N., Bresin, E., Renieri, A. Kidney Int. (2004) [Pubmed]
  28. Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain. Persson, U., Hertz, J.M., Carlsson, M., Hellmark, T., Juncker, I., Wieslander, J., Segelmark, M. Nephrol. Dial. Transplant. (2004) [Pubmed]
  29. Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. Turner, N., Mason, P.J., Brown, R., Fox, M., Povey, S., Rees, A., Pusey, C.D. J. Clin. Invest. (1992) [Pubmed]
  30. Molecular aspects of Alport's syndrome. Weber, M., Netzer, K.O., Pullig, O. The Clinical investigator. (1992) [Pubmed]
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