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Gene Review

COL5A2  -  collagen, type V, alpha 2

Homo sapiens

Synonyms: Collagen alpha-2(V) chain
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Disease relevance of COL5A2


High impact information on COL5A2

  • Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals [3].
  • Our findings show that heterozygous mutations of the COL5A2 gene can produce the EDS type I phenotype [4].
  • Cell type-specific expression of the human alpha2(V) collagen (COL5A2) gene depends on a cis-acting element that consists of two contiguous protein binding sites (FPA and FPB) located between nucleotides -149 and -95, relative to the transcription start site [5].
  • The transcriptional features of the human alpha 2(V) collagen gene (COL5A2) were examined by transfection experiments coupled to various DNA binding assays [6].
  • Identification of an upstream regulatory region essential for cell type-specific transcription of the pro-alpha 2(V) collagen gene (COL5A2) [6].

Biological context of COL5A2


Anatomical context of COL5A2


Regulatory relationships of COL5A2

  • An analysis of other collagens showed that COL5A2 was not expressed in normal colon but was co-expressed with COL11A1 in the tumours [2].

Other interactions of COL5A2

  • We report here on the complete structure of the human COL3A1 and COL5A2 genes [10].
  • An additional mutation in either the COL5A1 and COL5A2 genes was excluded [11].
  • Accordingly the exon/intron arrangement of the amino-propeptide coding domain was compared among pro-alpha 1(I) (COL1A1), pro alpha 1(II) (COL2A1), pro-alpha 1(III) (CO13A1) and pro-alpha 2(V) (COL5A2) collagen genes [12].
  • These genes include a cluster of two genes coding for fibrillar collagens COL3A1 and COL5A2, and a third member of the collagen gene family: COL6A3 [13].
  • Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2 [2].

Analytical, diagnostic and therapeutic context of COL5A2


  1. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. Richards, A.J., Martin, S., Nicholls, A.C., Harrison, J.B., Pope, F.M., Burrows, N.P. J. Med. Genet. (1998) [Pubmed]
  2. Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2. Fischer, H., Stenling, R., Rubio, C., Lindblom, A. Carcinogenesis (2001) [Pubmed]
  3. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Takahara, K., Schwarze, U., Imamura, Y., Hoffman, G.G., Toriello, H., Smith, L.T., Byers, P.H., Greenspan, D.S. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Michalickova, K., Susic, M., Willing, M.C., Wenstrup, R.J., Cole, W.G. Hum. Mol. Genet. (1998) [Pubmed]
  5. Cooperative interactions between PBX, PREP, and HOX proteins modulate the activity of the alpha 2(V) collagen (COL5A2) promoter. Penkov, D., Tanaka, S., Di Rocco, G., Berthelsen, J., Blasi, F., Ramirez, F. J. Biol. Chem. (2000) [Pubmed]
  6. Identification of an upstream regulatory region essential for cell type-specific transcription of the pro-alpha 2(V) collagen gene (COL5A2). Truter, S., Di Liberto, M., Inagaki, Y., Ramirez, F. J. Biol. Chem. (1992) [Pubmed]
  7. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Segev, F., Héon, E., Cole, W.G., Wenstrup, R.J., Young, F., Slomovic, A.R., Rootman, D.S., Whitaker-Menezes, D., Chervoneva, I., Birk, D.E. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  8. Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2. Tsipouras, P., Schwartz, R.C., Liddell, A.C., Salkeld, C.S., Weil, D., Ramirez, F. Genomics (1988) [Pubmed]
  9. Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models. Bertelli, R., Valenti, F., Oleggini, R., Caridi, G., Altieri, P., Coviello, D.A., Botti, G., Ravazzolo, R., Ghiggeri, G.M. Nephrol. Dial. Transplant. (1998) [Pubmed]
  10. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Välkkilä, M., Melkoniemi, M., Kvist, L., Kuivaniemi, H., Tromp, G., Ala-Kokko, L. Matrix Biol. (2001) [Pubmed]
  11. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Giunta, C., Nuytinck, L., Raghunath, M., Hausser, I., De Paepe, A., Steinmann, B. Am. J. Med. Genet. (2002) [Pubmed]
  12. Pro-alpha 2(V) collagen gene; pairwise analysis of the amino-propeptide coding domain, and cross-species comparison of the promoter sequence. Truter, S., Andrikopoulos, K., Di Liberto, M., Womack, L., Ramirez, F. Connect. Tissue Res. (1993) [Pubmed]
  13. Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2. Kainulainen, K., Savolainen, A., Palotie, A., Kaitila, I., Rosenbloom, J., Peltonen, L. Hum. Genet. (1990) [Pubmed]
  14. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. Grond-Ginsbach, C., Wigger, F., Morcher, M., von Pein, F., Grau, A., Hausser, I., Brandt, T. Neurology (2002) [Pubmed]
  15. Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. Tiller, G.E., Polumbo, P.A., Summar, M.L. Genomics (1994) [Pubmed]
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