Aliases for SLC12A5 Gene
External Ids for SLC12A5 Gene
Previous GeneCards Identifiers for SLC12A5 Gene
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
GeneCards Summary for SLC12A5 Gene
SLC12A5 (Solute Carrier Family 12 Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include Epileptic Encephalopathy, Early Infantile, 34 and Epilepsy, Idiopathic Generalized 14. Among its related pathways are GABAergic synapse and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include protein kinase binding and potassium:chloride symporter activity. An important paralog of this gene is SLC12A7.
UniProtKB/Swiss-Prot for SLC12A5 Gene
Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
K+/Cl- cotransporter 2 (KCC2, SLC12A5) is a neuron specific membrane protein that is responsible for the maintenance of the low intracellular Cl- concentration in adult neurons and has a key role in GABAA and glycine signaling.