Aliases for SLC12A2 Gene
- Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2 2 3
- Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 1 2 3 4
- Basolateral Na-K-Cl Symporter 2 3 4
- NKCC1 3 4 6
- Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 2 3
- Protein Phosphatase 1, Regulatory Subunit 141 3
- Solute Carrier Family 12 Member 2 3
External Ids for SLC12A2 Gene
Previous GeneCards Identifiers for SLC12A2 Gene
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
GeneCards Summary for SLC12A2 Gene
SLC12A2 (Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC12A2 include arachnoid cysts and bartter disease. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A3.
UniProtKB/Swiss-Prot for SLC12A2 Gene
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume
NKCC cotransporters are membrane-bound channels that play a prominent role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation. There are two NKCC isoforms; NKCC1 and NKCC2. NKCC1 is found on almost all cells types and, importantly, is located on the basolateral membrane of secretory epithelia. In contrast NKCC2 is found exclusively in the kidney, specifically on the apical membrane of absorptive epithelia. The NKCC is distinguished from all other transporters by the fact that it transports Na+, K+ and Cl- stoichiometrically by means of a tightly coupled mechanism that can be blocked by loop diuretics. The NKCC is electrically silent (i.e. not driven by a membrane voltage, nor does it establish one) and requires all three ions to be simultaneously present on the same side of the plasma membrane. This is achieved by an allosteric effect where binding of one ion increases the apparent affinity of the binding site for the other ions. NH4+ may substitute for K+ (especially at NKCC2), which has an important role in NH4+ recycling and excretion of excess acid in the kidney. The NKCC involves a secondary active transport process, despite its requirement for cellular ATPase. It is activated by phosphorylation, which is mediated by PKC and PKA. CK2 binding sites are also present on the NKCC, but the significance is unknown. Protein phosphatases act to reduce NKCC activity by dephosphorylating the transporter. Furthermore, the intracellular concentration of ions, including Cl-, Na+, K+, Mg2+, Ca2+ and H+, has an effect on NKCC activity. There is also evidence that depolymerization of the actin cytoskeleton is associated with NKCC activation.