SLC12A3 (solute carrier family 12 member 3)

2007-02-01  

Identity

HGNC
LOCATION
16q13
LOCUSID
ALIAS
NCC,NCCT,TSC
FUSION GENES

Other Information

Locus ID:

NCBI: 6559
MIM: 600968
HGNC: 10912
Ensembl: ENSG00000070915

Variants:

dbSNP: 6559
ClinVar: 6559
TCGA: ENSG00000070915
COSMIC: SLC12A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070915ENST00000262502J3QSS1
ENSG00000070915ENST00000438926P55017
ENSG00000070915ENST00000563236P55017
ENSG00000070915ENST00000566786P55017

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Cation-coupled Chloride cotransportersREACTOMER-HSA-426117

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134875400WNK4GenePathwayassociated23788015
PA164713347Thiazides, plainChemicalClinicalAnnotation, PathwayassociatedPD15824464, 23788015
PA31534NEDD4LGenePathwayassociated23788015
PA33784WNK3GenePathwayassociated23788015
PA38243STK39GenePathwayassociated23788015
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD15824464
PA448682bumetanideChemicalClinicalAnnotationassociatedPD17460608, 20877298
PA449719furosemideChemicalClinicalAnnotationassociatedPD17460608, 20877298
PA451733torasemideChemicalClinicalAnnotationassociatedPD17460608, 20877298

References

Pubmed IDYearTitleCitations
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
183919532008Rare independent mutations in renal salt handling genes contribute to blood pressure variation.310
182702622008Activation of the thiazide-sensitive Na+-Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1.148
168878152006The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
166881222006WNK4 kinase regulates surface expression of the human sodium chloride cotransporter in mammalian cells.61
179756702007The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complex.58
218525802011Nedd4-2 modulates renal Na+-Cl- cotransporter via the aldosterone-SGK1-Nedd4-2 pathway.53
214151532011Spectrum of mutations in Gitelman syndrome.41

Citation

Dessen P

SLC12A3 (solute carrier family 12 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46538/slc12a3