COL8A2

Summary

Gene Symbol: COL8A2
Description: collagen, type VIII, alpha 2
Summary: This gene encodes the alpha 2 chain of type VIII collagen. The protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. [provided by RefSeq]
Alias: FECD, FECD1, FLJ00201, MGC116970, MGC116972, PPCD, PPCD2, OTTHUMP00000194904, collagen VIII, alpha-2 polypeptide, collagen alpha-2(VIII) chain, dJ665N4.1 (collagen type VIII alpha 2), endothelial collagen
Species: human

Publications

  1. The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115 6092
    J Biol Chem 266:7721-7
  2. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene
    P Liskova
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
    Br J Ophthalmol 91:1717-8
  3. Keratoconus is not associated with mutations in COL8A1 and COL8A2
    Anthony J Aldave
    Jules Stein Eye Institute, University of California, Los Angeles, CA, USA
    Cornea 26:963-5
  4. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation
    Cheng Zhang
    Center for Corneal Genetics, Cornea and External Disease Service, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Trans Am Ophthalmol Soc 104:85-97
  5. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy
    Anthony J Aldave
    Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, Los Angeles, California 90095, USA
    Invest Ophthalmol Vis Sci 47:3787-90
  6. Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study
    Neill J Turner
    UK Centre for Tissue Engineering, Manchester, United Kingdom
    Circulation 114:820-9
  7. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy
    John D Gottsch
    Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, John Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Invest Ophthalmol Vis Sci 46:1934-9
  8. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy
    Vivek S Yellore
    Jules Stein Eye Institute, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
    Invest Ophthalmol Vis Sci 46:1599-603
  9. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy
    Akira Kobayashi
    Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    Jpn J Ophthalmol 48:195-8
  10. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers
    Simon Stephan
    Wellcome Trust Centre for Cell Matrix Research and UK Centre for Tissue Engineering, School of Biological Sciences, 2 205 Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 279:21469-77

Scientific Experts

  • Anthony J Aldave
  • Akira Kobayashi
  • John D Gottsch
  • Natalie A Afshari
  • P Liskova
  • Neill J Turner
  • Cheng Zhang
  • Vivek S Yellore
  • C Adrian Shuttleworth
  • Cay M Kielty
  • Simon Stephan
  • Marc Kvansakul
  • S Biswas
  • N S Greenhill
  • Gordon K Klintworth
  • Simon Gregory
  • Margaret A Pericak Vance
  • Yi Ju Li
  • C Kielty
  • S S Bhattacharya
  • S J Tuft
  • Q Prescott
  • Olof H Sundin
  • Martin J Humphries
  • Richard A Black
  • Walter J Stark
  • Zenaida de la Cruz
  • Michael G Walker
  • Ann E Canfield
  • W Richard Green
  • C Illidge
  • Michael O Murphy
  • W Robert Bell
  • Leslie Emmert-Buck
  • Rominder Momi
  • R Doyle Stulting
  • Irving Raber
  • Kapil Sampat
  • Geoffrey C Tabin
  • Sylvia A Rayner
  • Leslie Emmert Buck
  • Sadeer B Hannush
  • Alexandre H Principe
  • Michael J Sherratt
  • C A Shuttleworth
  • Nigel Hodson
  • Erhard Hohenester
  • Oren Bogin
  • Avner Yayon
  • B Noble
  • R Perveen
  • N Hart-Holden
  • D F Schorderet
  • A Ridgway
  • J E Sutphin
  • G C Black
  • E M Stone
  • N Hart Holden
  • A Hackett
  • J Yardley
  • F L Munier
  • D McLeod
  • M Batterbury
  • P Cousin
  • V C Sheffield
  • R Bonshek
  • Q Hasan
  • P F Davis
  • A Shuttleworth
  • Y Muragaki
  • B R Olsen
  • M G Mattei
  • Y Ninomiya
  • S Apte
  • N Yamaguchi
  • O Jacenko

Detail Information

Publications17

  1. The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115 6092
    J Biol Chem 266:7721-7
    ..By in situ hybridization we demonstrate that the alpha 2(VIII) gene is located in the p32.3-p34.3 region of the short arm of chromosome 1...
  2. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene
    P Liskova
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK
    Br J Ophthalmol 91:1717-8
  3. Keratoconus is not associated with mutations in COL8A1 and COL8A2
    Anthony J Aldave
    Jules Stein Eye Institute, University of California, Los Angeles, CA, USA
    Cornea 26:963-5
    PURPOSE: To evaluate the suggested role of the COL8A1 and COL8A2 genes in the pathogenesis of the corneal ectatic disorders keratoconus and keratoglobus through mutation screening in affected patients...
  4. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation
    Cheng Zhang
    Center for Corneal Genetics, Cornea and External Disease Service, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Trans Am Ophthalmol Soc 104:85-97
    PURPOSE: A rare, familial early-onset form of Fuchs corneal dystrophy (FCD) is caused by mutation in the COL8A2 gene...
  5. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy
    Anthony J Aldave
    Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, Los Angeles, California 90095, USA
    Invest Ophthalmol Vis Sci 47:3787-90
    ..basis of late-onset, familial Fuchs endothelial corneal dystrophy (FECD) through screening of the COL8A1 and COL8A2 genes, in which mutations have been associated with both early and late-onset, familial and sporadic FECD...
  6. Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study
    Neill J Turner
    UK Centre for Tissue Engineering, Manchester, United Kingdom
    Circulation 114:820-9
    ....
  7. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy
    John D Gottsch
    Center for Corneal Genetics, Cornea and External Disease Service, The Wilmer Eye Institute, John Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Invest Ophthalmol Vis Sci 46:1934-9
    ..with FCD and one with posterior polymorphous dystrophy were heterozygous for L450W, a novel point mutation in the COL8A2 gene. Of 62 independent cases of familial FCD, none had the previously reported mutations in COL8A2...
  8. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy
    Vivek S Yellore
    Jules Stein Eye Institute, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
    Invest Ophthalmol Vis Sci 46:1599-603
    ..of posterior polymorphous corneal dystrophy (PPCD) through screening of four positional candidate genes and the COL8A2 gene, in which a presumed pathogenic mutation has previously been identified in affected patients...
  9. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy
    Akira Kobayashi
    Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan
    Jpn J Ophthalmol 48:195-8
    ..Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies...
  10. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers
    Simon Stephan
    Wellcome Trust Centre for Cell Matrix Research and UK Centre for Tissue Engineering, School of Biological Sciences, 2 205 Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 279:21469-77
    ..Tetrahedrons may then act as building blocks of three-dimensional hexagonal lattices generated by secondary interactions involving terminal and helical sequences...
  11. Crystal structure of the collagen alpha1(VIII) NC1 trimer
    Marc Kvansakul
    Department of Biological Sciences, Imperial College London, South Kensington Campus, London SW7 2AZ, UK
    Matrix Biol 22:145-52
    ....
  12. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
    S Biswas
    Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK
    Hum Mol Genet 10:2415-23
    ..0). Refinement of the critical region defined a 6-7 cM interval of chromosome 1p34.3-p32 within which lies the COL8A2 gene...
  13. The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo
    N S Greenhill
    Renal Research Unit, Department of Medicine, Wellington School of Medicine, P O Box 7343, Wellington South, New Zealand
    Matrix Biol 19:19-28
    ..These results indicate the alpha1(VIII) and alpha2(VIII) chains preferentially form pepsin-resistant, homotrimeric molecules and so can exist as two distinct proteins...
  14. The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules
    C Illidge
    University of Manchester, Wellcome Trust Center for Cell Matrix Research, Manchester M13 9PT, United Kingdom
    J Biol Chem 273:22091-5
    ..The ability of both chains of type VIII collagen to form stable triple helices suggests that there may be different forms of this collagen and that cells may modulate the chain composition in response to different biological conditions...
  15. Type VIII collagen
    C A Shuttleworth
    University of Manchester, Wellcome Trust Centre for Cell Matrix Research
    Int J Biochem Cell Biol 29:1145-8
    ....
  16. The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3
    Y Muragaki
    Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
    Eur J Biochem 197:615-22
    ....
  17. Genome-wide linkage scan in fuchs endothelial corneal dystrophy
    Natalie A Afshari
    Duke University Eye Center and the
    Invest Ophthalmol Vis Sci 50:1093-7
    ..linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene...