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: 6557
MIM: 600839
HGNC: 10910
Ensembl: ENSG00000074803
Variants:
dbSNP: 6557
ClinVar: 6557
TCGA: ENSG00000074803
COSMIC: SLC12A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10741 | sulfonamides, plain | Chemical | Pathway | associated | 23788015 | ||
| PA134973207 | OXSR1 | Gene | Pathway | associated | 23788015 | ||
| PA40 | GRK2 | Gene | Pathway | associated | 23788015 |
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 |
| 38474353 | 2024 | AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2. | 1 |
| 37968800 | 2024 | From Fish Physiology to Human Disease: The Discovery of the NCC, NKCC2, and the Cation-Coupled Chloride Cotransporters. | 0 |
| 38474353 | 2024 | AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2. | 1 |
| 37074453 | 2023 | Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma. | 0 |
| 38003293 | 2023 | Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer. | 0 |
| 37074453 | 2023 | Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma. | 0 |
| 38003293 | 2023 | Association of SLC12A1 and GLUR4 Ion Transporters with Neoadjuvant Chemoresistance in Luminal Locally Advanced Breast Cancer. | 0 |
| 35090230 | 2022 | [Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ]. | 0 |
| 35358470 | 2022 | Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses. | 2 |
| 36361553 | 2022 | Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2. | 2 |
| 35090230 | 2022 | [Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ]. | 0 |
| 35358470 | 2022 | Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses. | 2 |
| 36361553 | 2022 | Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2. | 2 |
| 33672238 | 2021 | Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2. | 7 |
Citation
Dessen P
SLC12A1 (solute carrier family 12 member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/54000/slc12a1-(solute-carrier-family-12-member-1)
