COL8A2 Back

collagen, type VIII, alpha 2

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NCBI Description of COL8A2
This gene encodes the alpha 2 chain of type VIII collagen. The 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. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Community Annotation of COL8A2 Add / Edit COL8A2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

COL8A2 is highly significantly mutated in
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COL8A2 is significantly mutated in
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COL8A2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for COL8A2