Aliases for SLC12A2 Gene
- Solute Carrier Family 12 Member 2 2 3 4 5
- Basolateral Na-K-Cl Symporter 2 3 4
- NKCC1 2 3 4
- Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporter), Member 2 2 3
- Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 1 2 3
- Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 2 3 4
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 Member 2) is a Protein Coding gene. Diseases associated with SLC12A2 include Deafness, Autosomal Dominant 78 and Delpire-Mcneill Syndrome. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include cation:chloride symporter activity and sodium:potassium:chloride symporter activity. An important paralog of this gene is SLC12A1.
UniProtKB/Swiss-Prot Summary for SLC12A2 Gene
Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane. Plays a vital role in the regulation of ionic balance and cell volume.
Na+/K+/Cl- Symporters (NKCC) are membrane-bound channels that play a major role in a variety of epithelial absorptive and secretory processes and a direct role in cell volume regulation and possibly in cell cycle regulation. There are two NKCC isoforms: NKCC1 and NKCC2.