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Gene : COL8A2 Homo sapiens

Name  ? collagen type VIII alpha 2 chain Cytological Location  1p34.3
Brief Description  collagen type VIII alpha 2 chain
Description  This gene encodes the alpha 2 chain of type VIII collagen. This 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
  • synonyms:
  • PPCD,
  • PPCD2,
  • FECD1,
  • COL8A2,
  • FECD,
  • HGNC:2216,
  • FECD1,
  • uc057etn.1,
  • NM_005202,
  • M60832,
  • collagen, type VIII, alpha 2,
  • PPCD2,
  • collagen type VIII alpha 2,
  • OTTHUMG00000007665,
  • PPCD,
  • FECD
  • identifiers:
  • 1296,
  • ENSG00000171812,
  • COL8A2

Genome feature

Region: gene ? Length: 30969  
Location: 1:36095239-36126207 reverse strand Cyto location: 1p34.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



458 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results