Property Summary

NCBI Gene PubMed Count 102
Grant Count 94
R01 Count 51
Funding $11,902,566.7
PubMed Score 543.61
PubTator Score 285.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 2.900 0.000
cutaneous lupus erythematosus 1.700 0.005
osteosarcoma -1.034 0.000
ovarian cancer 1.200 0.000
psoriasis 1.900 0.000

Synonym

Accession P55017 A8MSJ2 C9JNN9
Symbols NCC
TSC
NCCT

Gene

Gene RIF (92)

PMID Text
26770037 Compared with patients with 1 mutant SLC12A3 allele, patients with 2 mutant SLC12A3 alleles had more severe hypomagnesemia, but did not have more severe hypokalemia.
26561651 Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney.
26345939 the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population.
25931204 In urinary exosomes, NCC and prostasin had a diurnal pattern parallel to ADH and aquaporin 2, confirming that, in healthy subjects, both prostasin and NCC relate to water balance.
25841442 association between thiazide-sensitive Na(+)-Cl(-) cotransporter mutants and human hypertension as well as Gitelman's syndrome (review).
25422309 Low SLC12A3 urine levels were associated with Gitelman syndrome.
25401745 SLC12A3 Arg913Gln polymorphism was associated with Type 2 diabetes and diabetic nephropathy in the Malaysian cohort. The meta-analysis confirmed the protective effects of SLC12A3 913Gln allele in diabetic nephropathy.
25273610 Data from two families in China suggest two homozygous mutations in SLC12A3 (Arg928Cys or Ser710X) can be associated with Gitelman syndrome; members of two families exhibit additional mutations and heterogenicity of clinical phenotype. [CASE STUDY]
25165177 Mutation in the SLC12A3 gene is associated with gitelman syndrome and glomerular proteinuria.
25060058 Identification of candidate mutations in the SLC12A3 gene that may induce exon skipping.
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AA Sequence

MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNTIDVVPTYEHY      1 - 70
ANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVK     71 - 140
GVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRS    141 - 210
LGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGME    211 - 280
WESKAQVLFFLVIMVSFANYLVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPS    281 - 350
ATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA    351 - 420
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVFQCLCEDQLYP    421 - 490
LIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITNSPGWRP    491 - 560
SFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLALSYSVG    561 - 630
LNEVEDHIKNYRPQCLVLTGPPNFRPALVDFVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWL    631 - 700
NKRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYG    701 - 770
VCVMRMREGLNVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG    771 - 840
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDINQNPRAEHTKR    841 - 910
FEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLNEIVLDYSRDAALIVITLPIG    911 - 980
RKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ                                 981 - 1021
//

Text Mined References (116)

PMID Year Title
26770037 2016 Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.
26561651 2016 Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling.
26345939 2015 Association of variants in renal salt reabsorption-related gene SLC12A3 with essential hypertension in a Mongolian population.
26099046 2015 Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
25931204 2015 Circadian exosomal expression of renal thiazide-sensitive NaCl cotransporter (NCC) and prostasin in healthy individuals.
25841442 2015 Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases.
25422309 2015 Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
25401745 2014 Genetic and biological effects of sodium-chloride cotransporter (SLC12A3) in diabetic nephropathy.
25273610 2015 A pedigree analysis of two homozygous mutant Gitelman syndrome cases.
25165177 2014 Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?
More...