Collagen, type VIII, alpha 2

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COL8A2
Identifiers
Aliases COL8A2, FECD, FECD1, PPCD, PPCD2, collagen type VIII alpha 2, collagen type VIII alpha 2 chain
External IDs MGI: 88464 HomoloGene: 55879 GeneCards: COL8A2
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for COL8A2
Genomic location for COL8A2
Band 1p34.3 Start 36,095,236 bp[1]
End 36,125,220 bp[1]
RNA expression pattern
PBB GE COL8A2 52651 at fs.png

PBB GE COL8A2 221900 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001294347
NM_005202

NM_199473

RefSeq (protein)

NP_001281276
NP_005193

NP_955767

Location (UCSC) Chr 1: 36.1 – 36.13 Mb Chr 4: 126.29 – 126.31 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-2(VIII) chain is a protein that in humans is encoded by the COL8A2 gene.[5][6] Mutations of the gene are linked to posterior polymorphous dystrophy type 2.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171812 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056174 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ "Entrez Gene: COL8A2 collagen, type VIII, alpha 2".

Further reading



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