SLC12A5

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]

Full Name

Solute Carrier Family 12 Member 5

Function

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).

Biological Process

Biological Process cell volume homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cellular chloride ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular ion homeostasisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process chemical synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chloride ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chloride transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process dendritic spine developmentManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process hypotonic responseManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process intracellular pH reductionIEA:Ensembl
Biological Process ion transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process learningIEA:Ensembl
Biological Process multicellular organism growthIEA:Ensembl
Biological Process potassium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process potassium ion import across plasma membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to xenobiotic stimulusIEA:Ensembl
Biological Process thermosensory behaviorIEA:Ensembl

Cellular Location

Membrane

Involvement in disease

Developmental and epileptic encephalopathy 34 (DEE34):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE34 is characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally.
Epilepsy, idiopathic generalized 14 (EIG14):
An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.