Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6559
MIM: 600968
HGNC: 10912
Ensembl: ENSG00000070915
Variants:
dbSNP: 6559
ClinVar: 6559
TCGA: ENSG00000070915
COSMIC: SLC12A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000070915 | ENST00000262502 | J3QSS1 |
| ENSG00000070915 | ENST00000438926 | P55017 |
| ENSG00000070915 | ENST00000563236 | P55017 |
| ENSG00000070915 | ENST00000566786 | P55017 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134875400 | WNK4 | Gene | Pathway | associated | 23788015 | ||
| PA164713347 | Thiazides, plain | Chemical | ClinicalAnnotation, Pathway | associated | PD | 15824464, 23788015 | |
| PA31534 | NEDD4L | Gene | Pathway | associated | 23788015 | ||
| PA33784 | WNK3 | Gene | Pathway | associated | 23788015 | ||
| PA38243 | STK39 | Gene | Pathway | associated | 23788015 | ||
| PA447288 | Essential hypertension | Disease | ClinicalAnnotation | associated | PD | 15824464 | |
| PA448682 | bumetanide | Chemical | ClinicalAnnotation | associated | PD | 17460608, 20877298 | |
| PA449719 | furosemide | Chemical | ClinicalAnnotation | associated | PD | 17460608, 20877298 | |
| PA451733 | torasemide | Chemical | ClinicalAnnotation | associated | PD | 17460608, 20877298 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37968800 | 2024 | From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters. | 0 |
| 37968800 | 2024 | From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters. | 0 |
| 36562655 | 2023 | Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome. | 0 |
| 36597580 | 2023 | Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. | 2 |
| 36792826 | 2023 | Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter. | 6 |
| 36925204 | 2023 | Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma. | 4 |
| 37657006 | 2023 | Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report. | 0 |
| 37702302 | 2023 | Spectrum of variants in a large Chinese Gitelman syndrome cohort. | 0 |
| 36562655 | 2023 | Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome. | 0 |
| 36597580 | 2023 | Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. | 2 |
| 36792826 | 2023 | Structure and thiazide inhibition mechanism of the human Na-Cl cotransporter. | 6 |
| 36925204 | 2023 | Upregulation of SLC12A3 and SLC12A9 Mediated by the HCP5/miR-140-5p Axis Confers Aggressiveness and Unfavorable Prognosis in Uveal Melanoma. | 4 |
| 37657006 | 2023 | Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report. | 0 |
| 37702302 | 2023 | Spectrum of variants in a large Chinese Gitelman syndrome cohort. | 0 |
| 35627249 | 2022 | RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas. | 1 |
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
