SLC12A1
Solute carrier family 12 member 1
Protein Summary
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume. This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
- ENST00000380993
- ENSP00000370381
- ENSG00000074803
- ENST00000396577
- ENSP00000379822
- ENST00000558405
- ENSP00000453409
- ENST00000647232
- ENSP00000493875
- ENST00000647546
- ENSP00000495332
- NKCC2
- BSC1
- NKCC2
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 0.73 | ||
cell type or tissue | 0.67 | ||
drug | 0.65 | ||
biological term | 0.6 | ||
molecular function | 0.6 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 319.38 (req: < 5)
Gene RIFs: 36 (req: <= 3)
Antibodies: 230 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 319.38 (req: >= 5)
Gene RIFs: 36 (req: > 3)
Antibodies: 230 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drugs: 5
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (5)
Active Ligands (0)
Protein-Protein Interactions (84)
Nearest Tclin Targets
Pathways (8)
Reactome (8)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Cation-coupled Chloride cotransporters | ||||
Reactome | Defective SLC12A1 causes Bartter syndrome 1 (BS1) | ||||
Reactome | Disease | ||||
Reactome | Disorders of transmembrane transporters | ||||
Reactome | SLC transporter disorders | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Cation-coupled Chloride cotransporters | ||||
Defective SLC12A1 causes Bartter syndrome 1 (BS1) | ||||
Disease | ||||
Disorders of transmembrane transporters | ||||
SLC transporter disorders | ||||
Viral Interactions (0)
Gene Ontology Terms (17)
Functions (4)
Components (5)
Processes (8)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Disease Associations ()
GWAS Traits (7)
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
skin pigmentation measurement | 3 | 3 | 2 | 3.5 | 92.1 | ||||
skin pigmentation | 2 | 2 | 0 | 8.2 | 84.6 | ||||
lymphocyte count | 2 | 2 | 2 | 71.4 | |||||
lymphocyte percentage of leukocytes | 1 | 1 | 1 | 51.7 | |||||
body height | 1 | 1 | 1 | 27.2 | |||||
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
skin pigmentation measurement | 2 | 3.5 | 92.1 | ||||
skin pigmentation | 0 | 8.2 | 84.6 | ||||
lymphocyte count | 2 | 71.4 | |||||
lymphocyte percentage of leukocytes | 1 | 51.7 | |||||
body height | 1 | 27.2 | |||||
Find similar targets by:
IDG Resources
Orthologs (11)
1 – 5 of 11
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | solute carrier family 12 member 1 | VGNC:7779 | 453410 | |||||
Macaque | solute carrier family 12 member 1 | 714289 | ||||||
Mouse | MGI:103150 | 20495 | ||||||
Rat | RGD:3685 | 25065 | ||||||
Dog | solute carrier family 12 member 1 | VGNC:46218 | 478292 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | solute carrier family 12 member 1 | |||||
Macaque | solute carrier family 12 member 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | solute carrier family 12 member 1 | |||||
Publication Statistics
PubMed Score 319.38
PubMed score by year
PubTator Score 304.55
PubTator score by year
Related Publications
Text Mined References (57)
GeneRif Annotations (36)
Items per page:
0 of 0
PMID | Year | Title |
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