SLC12A1 Back

solute carrier family 12 (sodium/potassium/chloride transporters), member 1

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NCBI Description of SLC12A1
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.

Community Annotation of SLC12A1 Add / Edit SLC12A1: Annotations

No community annotations yet for SLC12A1.
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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

SLC12A1 is highly significantly mutated in
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SLC12A1 is significantly mutated in
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SLC12A1 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 SLC12A1