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Tclin
SLC12A1
Solute carrier family 12 member 1

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000380993
  • ENSP00000370381
  • ENSG00000074803
  • ENST00000396577
  • ENSP00000379822
  • ENST00000558405
  • ENSP00000453409
  • ENST00000647232
  • ENSP00000493875
  • ENST00000647546
  • ENSP00000495332

Symbol
  • NKCC2
  • BSC1
  • NKCC2
Illumination Graph
Knowledge Table
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


Related Tools
RESOLUTE
Thumbnail image for RESOLUTE
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.
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 5
GWAS Traits (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
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
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
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q13621-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (8)
Cation-coupled Chloride cotransporters (R-HSA-426117)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 8
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
Gene Ontology Terms (17)
Items per page:
10
1 – 4 of 4
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
Protein-Protein Interactions (84)
1 – 10 of 84
STK39
Tchem
Family:  Kinase
Novelty:  0.00548476
Score:  0.939
Data Source:  STRINGDB
KCNJ1
Tchem
Family:  IC
Novelty:  0.0025066
Score:  0.906
Data Source:  STRINGDB
WNK1
Tchem
Family:  Kinase
Novelty:  0.00270535
Score:  0.886
Data Source:  STRINGDB
WNK4
Tbio
Family:  Kinase
Novelty:  0.00795905
Score:  0.856
Data Source:  STRINGDB
CLCNKB
Tchem
Family:  IC
Novelty:  0.00982208
Score:  0.85
Data Source:  STRINGDB
SLC9A3
Tclin
Family:  Transporter
Novelty:  0.00146466
Score:  0.845
Data Source:  STRINGDB
AQP2
Tbio
Novelty:  0.00088471
Score:  0.837
Data Source:  STRINGDB
WNK3
Tchem
Family:  Kinase
Novelty:  0.03382701
Score:  0.835
Data Source:  STRINGDB
SLC4A2
Tbio
Family:  Transporter
Novelty:  0.02448062
Score:  0.806
Data Source:  STRINGDB
BSND
Tbio
Novelty:  0.01638636
Score:  0.8
Data Source:  STRINGDB
Publication Statistics
PubMed Score  319.38

PubMed score by year
PubTator Score  304.55

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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