SLC12A3 Chromosome 16
Solute carrier family 12 member 3
Upload your DNA to see your personal genotypes for variants in SLC12A3.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Solute carrier family 12"
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000070915
Associated Conditions (15)
Familial hypokalemia-hypomagnesemia
SLC12A3-related disorder
Hypokalemia
Inborn genetic diseases
Thymoma
Renal tubulopathies
Bartter syndrome
Hypermagnesemia
Myalgia
Muscle weakness
Cervical cancer
Congenital portosystemic shunt
Familial aortopathy
Renal tubular acidosis
Inherited renal tubular disease
Key Variants
RS1037430183
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia
Health Risk
RS1041531529
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS1159677951
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS117440321
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS117987946
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS1222807128
Conflicting classifications of pathogenicity
SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
Health Risk
RS1263244811
Conflicting classifications of pathogenicity
SLC12A3-related disorder, Hypokalemia, SLC12A3-related disorder
Health Risk
RS1290372649
Conflicting classifications of pathogenicity
Health Risk
RS13306666
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS1335054266
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
RS139329616
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia
Health Risk
RS139828223
Conflicting classifications of pathogenicity
Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
Health Risk
All Variants (405)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2144688604 | Health Risk | Pathogenic | — |
| RS2144689577 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144695707 | Health Risk | Pathogenic | — |
| RS2144711481 | Health Risk | Pathogenic | — |
| RS2144723103 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144723125 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2144723620 | Health Risk | Pathogenic | — |
| RS2144729905 | Health Risk | Pathogenic | — |
| RS2144733156 | Health Risk | Pathogenic | — |
| RS2144772551 | Health Risk | Pathogenic | — |
| RS2144793155 | Health Risk | Pathogenic | — |
| RS2474133299 | Health Risk | Pathogenic | — |
| RS2543468782 | Health Risk | Pathogenic | — |
| RS2543472921 | Health Risk | Pathogenic | — |
| RS2543473065 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2543473106 | Health Risk | Pathogenic | — |
| RS2543475708 | Health Risk | Pathogenic | — |
| RS2543475783 | Health Risk | Pathogenic | — |
| RS2543475889 | Health Risk | Pathogenic | — |
| RS2543476037 | Health Risk | Pathogenic | — |
| RS2543476044 | Health Risk | Pathogenic | — |
| RS2543480089 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2543481820 | Health Risk | Pathogenic | — |
| RS2543482001 | Health Risk | Pathogenic | — |
| RS2543483756 | Health Risk | Pathogenic | — |
| RS2543483865 | Health Risk | Pathogenic | — |
| RS2543487324 | Health Risk | Pathogenic | — |
| RS2543487329 | Health Risk | Pathogenic | — |
| RS2543487699 | Health Risk | Pathogenic | — |
| RS2543488957 | Health Risk | Pathogenic | — |
| RS2543489066 | Health Risk | Pathogenic | — |
| RS2543502957 | Health Risk | Pathogenic | — |
| RS2543503008 | Health Risk | Pathogenic | — |
| RS2543503132 | Health Risk | Pathogenic | — |
| RS2543504675 | Health Risk | Pathogenic | — |
| RS2543511781 | Health Risk | Pathogenic | — |
| RS2543511911 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2543515261 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2543521233 | Health Risk | Pathogenic | — |
| RS2543523215 | Health Risk | Pathogenic | Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia |
| RS2543523300 | Health Risk | Pathogenic | — |
| RS2543526446 | Health Risk | Pathogenic | — |
| RS2543542523 | Health Risk | Pathogenic | — |
| RS2543542700 | Health Risk | Pathogenic | — |
| RS2543552471 | Health Risk | Pathogenic | — |
| RS2543557896 | Health Risk | Pathogenic | — |
| RS2543557937 | Health Risk | Pathogenic | — |
| RS2543563410 | Health Risk | Pathogenic | — |
| RS2543584659 | Health Risk | Pathogenic | — |
| RS2543584665 | Health Risk | Pathogenic | — |