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Collagen, type VIII, alpha 2

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COL8A2
Identifiers
AliasesCOL8A2, FECD, FECD1, PPCD, PPCD2, collagen type VIII alpha 2, collagen type VIII alpha 2 chain
External IDsOMIM: 120252; MGI: 88464; HomoloGene: 55879; GeneCards: COL8A2; OMA:COL8A2 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 4: 126.18 – 126.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171812Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056174Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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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