COL8A2

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Collagen, type VIII, alpha 2
Identifiers
Symbols COL8A2 ; FECD; FLJ00201; MGC116970; MGC116972; PPCD; PPCD2
External IDs OMIM: 120252 MGI88464 HomoloGene55879
RNA expression pattern
PBB GE COL8A2 221900 at tn.png
PBB GE COL8A2 52651 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 1296
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 329941

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000171812
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000056174

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P25067
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P25318

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_005202 (mRNA)
NP_005193 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_199473 (mRNA)
NP_955767 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 1: 36.33 - 36.34 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 4: 125.79 -  125.82 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Collagen, type VIII, alpha 2, also known as COL8A2, is a human gene.[1]


References

  1. "Entrez Gene: COL8A2 collagen, type VIII, alpha 2".

Further reading

  • Shuttleworth CA (1998). "Type VIII collagen". Int. J. Biochem. Cell Biol. 29 (10): 1145–8. PMID 9438378.
  • Muragaki Y, Jacenko O, Apte S; et al. (1991). "The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1". J. Biol. Chem. 266 (12): 7721–7. PMID 2019595.
  • Muragaki Y, Mattei MG, Yamaguchi N; et al. (1991). "The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3". Eur. J. Biochem. 197 (3): 615–22. PMID 2029894.
  • Illidge C, Kielty C, Shuttleworth A (1998). "The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules". J. Biol. Chem. 273 (34): 22091–5. PMID 9705353.
  • Greenhill NS, Rüger BM, Hasan Q, Davis PF (2000). "The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo". Matrix Biol. 19 (1): 19–28. PMID 10686422.
  • Biswas S, Munier FL, Yardley J; et al. (2002). "Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy". Hum. Mol. Genet. 10 (21): 2415–23. PMID 11689488.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Kvansakul M, Bogin O, Hohenester E, Yayon A (2004). "Crystal structure of the collagen alpha1(VIII) NC1 trimer". Matrix Biol. 22 (2): 145–52. PMID 12782141.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Stephan S, Sherratt MJ, Hodson N; et al. (2004). "Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers". J. Biol. Chem. 279 (20): 21469–77. doi:10.1074/jbc.M305805200. PMID 14990571.
  • Kobayashi A, Fujiki K, Murakami A; et al. (2004). "Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy". Jpn. J. Ophthalmol. 48 (3): 195–8. doi:10.1007/s10384-003-0063-6. PMID 15175909.
  • Yellore VS, Rayner SA, Emmert-Buck L; et al. (2005). "No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 46 (5): 1599–603. doi:10.1167/iovs.04-1321. PMID 15851557.
  • Gottsch JD, Sundin OH, Liu SH; et al. (2005). "Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 46 (6): 1934–9. doi:10.1167/iovs.04-0937. PMID 15914606.
  • Turner NJ, Murphy MO, Kielty CM; et al. (2006). "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". Circulation. 114 (8): 820–9. doi:10.1161/CIRCULATIONAHA.106.635292. PMID 16908762.
  • Aldave AJ, Rayner SA, Salem AK; et al. (2006). "No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy". Invest. Ophthalmol. Vis. Sci. 47 (9): 3787–90. doi:10.1167/iovs.05-1635. PMID 16936088.
  • Zhang C, Bell WR, Sundin OH; et al. (2007). "Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation". Transactions of the American Ophthalmological Society. 104: 85–97. PMID 17471329.
  • Aldave AJ, Bourla N, Yellore VS; et al. (2007). "Keratoconus is not associated with mutations in COL8A1 and COL8A2". Cornea. 26 (8): 963–5. doi:10.1097/ICO.0b013e31811dfaf7. PMID 17721297.

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