Basic information

Full name
solute carrier family 12 member 3
Ensembl
ENSG00000070915.10
Summary
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]
Annotation
Druggable target (Tier T2)

Protein product

Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-2.3e-6--4.6e-29--1.6e-3-0.990.86--7.1e-3-
protein-1.9e-23--2e-23--------

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416log2(RSEM+1)tumornormal
Protein expression
CCRCC22.52323.52424.52525.52626.527log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC024681012141618202224260-2-4-6-8-10-12-14-16-18-20-22-24-26Pan-cancer051015202530354045505560650-5-10-15-20-25-30-35-40-45-50-55-60-65proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of SLC12A3 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
PATH-NP_TSLP_PATHWAY6.2e-4-6.2e-4--------
xcell: Hematopoietic stem cell1.8e-3-1.8e-3--------
HALLMARK_HEME_METABOLISM2.8e-3-2.8e-3--------
HALLMARK_KRAS_SIGNALING_UP8.7e-3-8.7e-3--------
HALLMARK_MYOGENESIS9.1e-3-9.1e-3--------
xcell: Myeloid dendritic cell0.011-0.011--------
xcell: stroma score0.016-0.016--------
xcell: Endothelial cell0.019-0.019--------
ESTIMATE: StromalScore0.021-0.021--------
PROGENy: MAPK0.022-0.022--------
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of SLC12A3

BRCA0.21proteinmRNASCNVmethylationCCRCC-0.01-0.02-0.04proteinmRNASCNVmethylationCOAD0.05proteinmRNASCNVmethylationGBM0.06proteinmRNASCNVmethylationHNSCC0.00proteinmRNASCNVmethylationLSCC0.14proteinmRNASCNVmethylationLUAD-0.24proteinmRNASCNVmethylationOV0.37proteinmRNASCNVmethylationPDAC0.00proteinmRNASCNVmethylationUCEC-0.04proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of SLC12A3 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.