Tclin SLC12A3 Solute carrier family 12 member 3

Protein Summary

Description

Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity). 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]

Uniprot Accession IDs

• P55017
• A8MSJ2
• C9JNN9

Gene Name

• SLC12A3

Ensembl ID

• ENST00000438926
• ENSP00000402152
• ENSG00000070915
• ENST00000563236
• ENSP00000456149
• ENST00000566786
• ENSP00000457552

Symbol

• NCC
• TSC
• NCC
• TSC
• NCCT

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.7
molecular function	0.67
gene perturbation	0.62
protein domain	0.58
disease	0.57

Protein Classes

DTO Classes

Protein / Transporter / Slc Superfamily Of Solute Carriers / Slc12 Family Of Cation-coupled Chloride Transporters / Solute Carrier Family 12 Member 3

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: 548.71   (req: < 5)

Gene RIFs: 130   (req: <= 3)

Antibodies: 245   (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: 548.71   (req: >= 5)

Gene RIFs: 130   (req: > 3)

Antibodies: 245   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

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: 13