COL8A2

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Collagen, type VIII, alpha 2
Identifiers
Symbols COL8A2 ; FECD; FECD1; PPCD; PPCD2
External IDs OMIM120252 MGI88464 HomoloGene55879 GeneCards: COL8A2 Gene
RNA expression pattern
PBB GE COL8A2 221900 at tn.png
PBB GE COL8A2 52651 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1296 329941
Ensembl ENSG00000171812 ENSMUSG00000056174
UniProt P25067 P25318
RefSeq (mRNA) NM_001294347 NM_199473
RefSeq (protein) NP_001281276 NP_955767
Location (UCSC) Chr 1:
36.56 – 36.59 Mb
Chr 4:
126.29 – 126.31 Mb
PubMed search [1] [2]

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene.[1][2] Mutations of the gene are linked to posterior polymorphous dystrophy type 2.


References[edit]

  1. ^ Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC (Nov 2001). "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. doi:10.1093/hmg/10.21.2415. PMID 11689488. 
  2. ^ "Entrez Gene: COL8A2 collagen, type VIII, alpha 2". 

Further reading[edit]