SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE Conclusions- The novel NKCC1 inhibitor STS66 is superior to BMT and STS5 in reducing ischemic infarction, swelling, and neurological deficits in large-vessel transient ischemic stroke, as well as in permanent focal ischemic stroke with hypertension comorbidity. 30862257 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE These studies demonstrate that T cell SGK1 and NKCC1 may be novel therapeutic targets for the treatment of hypertension and identify a potentially new mechanism by which salt contributes to hypertension. 28679951 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE With-no-lysine kinase (WNK) and Na<sup>+</sup>-K<sup>+</sup>-2Cl<sup>-</sup> cotransporter 1 (NKCC1) are involved in the pathogenesis of hypertension. 27798271 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 AlteredExpression group BEFREE The specific function of DNA methylation in regulating the expression of AH-related genes at promoter site was described for hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), somatic angiotensin converting enzyme (sACE), Na+/K+/2Cl- cotransporter 1 (NKCC1), angiotensinogen (AGT), α-adducin (ADD1), and for other crucial genes in endocrine hypertension. 25035152 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group RGD Nkcc1 promoter in WKY was getting methylated with age whereas that in SHR mostly remained hypomethylated after development of hypertension. 21814290 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group BEFREE NKCC1 and hypertension: a novel therapeutic target involved in the regulation of vascular tone and renal function. 20061948 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group CTD_human We conclude that NKCC1 influences blood pressure through effects on smooth muscle tone in resistance vessels and that this effect is augmented in hypertension. 17259435 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.550 Biomarker group RGD This is the first demonstration that NKCC1 in vascular smooth muscle is regulated by blood pressure and indicates that this transporter is important in the acute response of vascular smooth muscle to hypertension. 15020309 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE NKCC1 is an electroneutral neuronal Cl<sup>-</sup> importer and the dominance of NKCC1 function has been proposed as the common pathology for HIE seizures, TLE, autism, and schizophrenia. 31068771 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET Together, these preclinical and clinical results suggest that variation in NKCC1 may increase risk for schizophrenia via alterations of mRNA expression at the molecular level and impairment of optimal prefrontal function at the macro or systems level. 24695712 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE Together, these preclinical and clinical results suggest that variation in NKCC1 may increase risk for schizophrenia via alterations of mRNA expression at the molecular level and impairment of optimal prefrontal function at the macro or systems level. 24695712 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE We previously reported that SLC12A2-dependent GABA depolarization and DISC1 coregulate hippocampal neuronal development, and 2 SNPs in these genes linked to mRNA expression interactively increase schizophrenia risk. 23921125 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET This study shows that two SNPs in intergenic of the CTXN3 and SLC12A2 genes, rs245178 and rs698172, are associated with risk of schizophrenia in Thai population. 22643131 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE This study shows that two SNPs in intergenic of the CTXN3 and SLC12A2 genes, rs245178 and rs698172, are associated with risk of schizophrenia in Thai population. 22643131 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET Furthermore, DISC1 and NKCC1 interact epistatically to affect risk for schizophrenia in two independent case control studies. 22385968 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE We examined the expression of transcripts derived from three genes related to GABA signaling [GAD1 (GAD67 and GAD25), SLC12A2 (NKCC1), and SLC12A5 (KCC2)] in the prefrontal cortex (PFC) and hippocampal formation of a large cohort of nonpsychiatric control human brains (n = 240) across the lifespan (from fetal week 14 to 80 years) and in patients with schizophrenia (n = 30-31), using quantitative RT-PCR. 21795557 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease BEFREE Altered expression of regulators of the cortical chloride transporters NKCC1 and KCC2 in schizophrenia. 20819979 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 Biomarker disease PSYGENET To compare the levels of NKCC1, KCC2, OXSR1, STK39, WNK1, WNK3, and WNK4 transcripts in prefrontal cortex area 9 between subjects with schizophrenia and healthy comparison subjects. 20819979 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.370 GeneticVariation disease BEFREE An increased expression of NKCC1 and mutations of the gene have been associated with schizophrenia. 21237234 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 AlteredExpression disease BEFREE The finding that NKCC1 did not play a major role in NRT neurons is of high relevance for ongoing studies on the therapeutic use of NKCC1 inhibitors trying to compensate for a disease-induced up-regulation of NKCC1 that has been described for various brain regions and disease states like epilepsy and chronic pain. 30224811 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Large amounts of Cl<sup>-</sup> influx can overwhelm Cl<sup>-</sup> extrusion during seizures not only in healthy tissue in a short-term "activity-dependent" manner, but also in chronic epilepsy in a long-term, irreversible "pathology-dependent" manner related to the dysfunction of two chloride transporters: the chloride importer NKCC1 and the chloride exporter KCC2. 30201259 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Vitexin reduces epilepsy after hypoxic ischemia in the neonatal brain via inhibition of NKCC1. 29925377 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE Abnormal functionality of NKCC1 has been implicated in several brain disorders, including epilepsy. 27088517 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease BEFREE These findings point to a key role of Cl(-) transporters KCC2 and NKCC1 in tumor-related epilepsy, suggesting a more specific drug therapy and surgical approaches for the epileptic patients afflicted by brain tumors. 21635237 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.360 Biomarker disease CTD_human Long-term expressional changes of Na+ -K+ -Cl- co-transporter 1 (NKCC1) and K+ -Cl- co-transporter 2 (KCC2) in CA1 region of hippocampus following lithium-pilocarpine induced status epilepticus (PISE). 18550034 2008