The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

COL6A2  -  collagen, type VI, alpha 2

Homo sapiens

Synonyms: Collagen alpha-2(VI) chain
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of COL6A2


High impact information on COL6A2

  • Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to cause UCMD [5].
  • The Bethlem myopathy, a childhood onset autosomal dominant myopathy with joint contractures, has recently been localized to 21q in a series of Dutch families and the alpha 1 and alpha 2 subunits of type VI collagen (COL6A1 and COL6A2) have been postulated as candidate genes [6].
  • We recently reported a severe deficiency in collagen type VI, resulting from recessive mutations of the COL6A2 gene, in patients with Ullrich congenital muscular dystrophy [7].
  • Here we investigated the consequences of three COL6A2 mutations in fibroblasts from patients and their parents in two Ullrich families [7].
  • Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy [7].

Biological context of COL6A2


Anatomical context of COL6A2


Other interactions of COL6A2

  • Six linkage groups were defined: D21S13-D21S16, D21S1-D21S11, D21S65-D21S17, (D21S55,ERG)-ETS2, BCEI-D21S19-D21S42-D21S113-CBS-CRYA1, and COL6A2-S100B [11].

Analytical, diagnostic and therapeutic context of COL6A2

  • PCR assays for 21q-specific markers were used to show that COL6A1, COL6A2, and LA161 were all outside of the subtelomeric region spanned by the YACs and thus at least 300 kb from the 21q terminus [12].


  1. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Baker, N.L., Mörgelin, M., Peat, R., Goemans, N., North, K.N., Bateman, J.F., Lamandé, S.R. Hum. Mol. Genet. (2005) [Pubmed]
  2. A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Lucarini, L., Giusti, B., Zhang, R.Z., Pan, T.C., Jimenez-Mallebrera, C., Mercuri, E., Muntoni, F., Pepe, G., Chu, M.L. Hum. Genet. (2005) [Pubmed]
  3. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Pan, T.C., Zhang, R.Z., Sudano, D.G., Marie, S.K., Bönnemann, C.G., Chu, M.L. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome. Davies, G.E., Howard, C.M., Gorman, L.M., Farrer, M.J., Holland, A.J., Williamson, R., Kessling, A.M. Hum. Genet. (1993) [Pubmed]
  5. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Demir, E., Sabatelli, P., Allamand, V., Ferreiro, A., Moghadaszadeh, B., Makrelouf, M., Topaloglu, H., Echenne, B., Merlini, L., Guicheney, P. Am. J. Hum. Genet. (2002) [Pubmed]
  6. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Speer, M.C., Tandan, R., Rao, P.N., Fries, T., Stajich, J.M., Bolhuis, P.A., Jöbsis, G.J., Vance, J.M., Viles, K.D., Sheffield, K., James, C., Kahler, S.G., Pettenati, M., Gilbert, J.R., Denton, P.H., Yamaoka, L.H., Pericak-Vance, M.A. Hum. Mol. Genet. (1996) [Pubmed]
  7. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. Zhang, R.Z., Sabatelli, P., Pan, T.C., Squarzoni, S., Mattioli, E., Bertini, E., Pepe, G., Chu, M.L. J. Biol. Chem. (2002) [Pubmed]
  8. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan, T.C., Zhang, R.Z., Pericak-Vance, M.A., Tandan, R., Fries, T., Stajich, J.M., Viles, K., Vance, J.M., Chu, M.L., Speer, M.C. Hum. Mol. Genet. (1998) [Pubmed]
  9. The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Francomano, C.A., Cutting, G.R., McCormick, M.K., Chu, M.L., Timpl, R., Hong, H.K., Antonarakis, S.E. Hum. Genet. (1991) [Pubmed]
  10. Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. Trikka, D., Davis, T., Lapenta, V., Brahe, C., Kessling, A.M. Mamm. Genome (1997) [Pubmed]
  11. Partial physical map of human chromosome 21 from fibroblast and lymphocyte DNA. Crété, N., Delabar, J.M., Rahmani, Z., Yaspo, M.L., Kraus, J., Marks, A., Sinet, P.M., Créau-Goldberg, N. Hum. Genet. (1993) [Pubmed]
  12. Structure of the terminal 300 kb of DNA from human chromosome 21q. Reston, J.T., Hu, X.L., Macina, R.A., Spais, C., Riethman, H.C. Genomics (1995) [Pubmed]
WikiGenes - Universities