USH2A Back

Usher syndrome 2A (autosomal recessive, mild)

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NCBI Description of USH2A
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of USH2A Add / Edit USH2A: 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

USH2A is highly significantly mutated in
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USH2A is significantly mutated in
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USH2A 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 USH2A