SLC12A3 Back

solute carrier family 12 (sodium/chloride transporters), member 3

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NCBI Description of SLC12A3
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SLC12A3 Add / Edit SLC12A3: 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

SLC12A3 is highly significantly mutated in
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SLC12A3 is significantly mutated in
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SLC12A3 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 SLC12A3