SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 170; N. variants: 31
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE In 2011 Fujita and coworkers proposed that beta-adrenergic stimulation causes decreased serine/threonine-protein kinase WNK4 transcription leading to the activation of Na-Cl cotransporter (NCC) which participates in salt sensitivity and salt hypertension development in rodents. 31647304 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Inhibition of NCC with thiazide diuretics corrects hypertension and hyperkalaemia in FHHt. 30723251 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 AlteredExpression group BEFREE Potassium has recently been identified as an important driver of NCC activity, and low serum potassium may also contribute to increased renal sodium reabsorption and hypertension in CS. 29726949 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE These findings suggest that NCC-mediated Cl<sup>-</sup> uptake plays important roles in the development of aldosterone-induced hypertension and renal injury. 29631358 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 PosttranslationalModification group BEFREE Metformin increased urinary sodium excretion by reducing phosphorylation of NCC, suggesting its role in improving hypertension. 29510178 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of DN-ESRD in Chinese T2DM patients undergoing hemodialysis. 28744814 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE In particular, CD8<sup>+</sup> T cells directly contact the distal convoluted tubule (DCT) in the kidneys of DOCA-salt mice and CD8<sup>+</sup> T cell-injected mice, leading to up-regulation of the Na-Cl co-transporter NCC, p-NCC and the development of salt-sensitive hypertension. 28067240 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE CA-SPAK mice displayed thiazide-treatable hypertension and hyperkalemia, concurrent with NCC hyperphosphorylation. 28442491 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 AlteredExpression group BEFREE A common pathway between oxidative stress and hypertension induced by CNIs may be identified in the involvement of the activation of RhoA/Rho kinase pathway, key for the induction of hypertension and cardiovascular-renal remodeling, of the oxidative stress mediated increased nitric oxide (NO) metabolism and increased renal sodium retention via increased activity of thiazide-sensitive sodium chloride cotransporter (NCC) in the distal tubule. 29131070 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE These data demonstrate the role of KLHL3 in low-K<sup>+</sup>-mediated induction of NCC; this physiologic adaptation reduces distal electrogenic Na<sup>+</sup> reabsorption, preventing further renal K<sup>+</sup> loss but promoting increased blood pressure. 27942049 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE These results suggest that SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population. 26751802 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Low intracellular chloride stimulates WNK kinases to activate NCC, limiting potassium losses, even at the expense of increased blood pressure. 25565204 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE These results suggest that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population. 26345939 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE The present analysis also raises questions about whether mutation-dependent increases in renal tubular activity of ENaC or NCC are even necessary to account for increased risk for salt-dependent hypertension in most patients with such mutations. 25753977 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE There is emerging evidence that NCC, involved in hypertensive diseases, is also regulated by ubiquitylation. 24382868 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE Taken together, our findings demonstrate a predominant role played by SLC12A3 gene rs5804 in determining hypertension risk among northeastern Han Chinese. 24430698 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 AlteredExpression group BEFREE The pathophysiological significance of this network is illustrated by the fact that modification of each individual protein in the network changes NCC activity and results in salt-dependent hypotension or hypertension. 24310820 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE FHHt (familial hyperkalaemic hypertension; also known as Gordon's syndrome) is a salt-dependent form of hypertension caused by mutations in the regulators of the thiazide-sensitive Na+-Cl- co-transporter NCC [also known as SLC12A3 (solute carrier family 12 member 3)] and is effectively treated by thiazide diuretics and/or dietary salt restriction. 24266877 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 AlteredExpression group BEFREE Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na+/K+ balance maintained by downregulation of ENaC activity and upregulation of ROMK. 23348737 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE The increased expression of L-WNK1 in the DCT results in increased activity of the Na-Cl cotransporter (NCC) and thus hypervolemia and hypertension. 22080857 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Here we tested whether STK39, OXSR1, and SLC12A3 genetically contribute to hypertension in the Han Chinese population and how the SNP to SNP or SNP to other risk factors interacts in the pathogenesis of hypertension. 20889219 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE The aim of this review is to provide an overview of the recent developments in the regulation of NCC, highlighting a potential new therapeutic target for the treatment of hypertension. 21088576 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia. 21644212 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 GeneticVariation group BEFREE Association of TSC gene variants and hypertension in Mongolian and Han populations. 21644207 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.400 Biomarker group BEFREE Loss of physiological regulation of the renal thiazide-sensitive Na+-Cl- cotransporter (NCC) by mutant WNK1 or WNK4 results in pseudohypoaldosteronism type II (PHAII) characterized by arterial hypertension and hyperkalemia. 18701621 2008