SLC4A11 Back

solute carrier family 4, sodium borate transporter, member 11

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NCBI Description of SLC4A11

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described.

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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

SLC4A11 is highly significantly mutated in
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SLC4A11 is significantly mutated in
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SLC4A11 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 SLC4A11