SLC12A2

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]

Solute Carrier Family 12 Member 2

Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:32294086).
Plays a vital role in the regulation of ionic balance and cell volume.

Biological Process agingIEA:Ensembl
Biological Process ammonium transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cell volume homeostasisISS:ARUK-UCL
Biological Process cellular chloride ion homeostasisISS:ARUK-UCL
Biological Process cellular potassium ion homeostasisISS:ARUK-UCL
Biological Process cellular response to chemokineManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process cellular response to potassium ionISS:ARUK-UCL
Biological Process cellular sodium ion homeostasisISS:ARUK-UCL
Biological Process chloride ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process chloride transmembrane transportISS:ARUK-UCL
Biological Process gamma-aminobutyric acid signaling pathwayBy SimilarityISS:ARUK-UCL
Biological Process hyperosmotic responseIEA:Ensembl
Biological Process inorganic anion import across plasma membraneISS:ARUK-UCL
Biological Process inorganic cation import across plasma membraneManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process ion transportTAS:Reactome
Biological Process maintenance of blood-brain barrierISS:ARUK-UCL
Biological Process negative regulation of vascular wound healingISS:ARUK-UCL
Biological Process positive regulation of aspartate secretionISS:ARUK-UCL
Biological Process positive regulation of cell volumeIEA:Ensembl
Biological Process potassium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process potassium ion import across plasma membraneISS:ARUK-UCL
Biological Process regulation of matrix metallopeptidase secretionISS:ARUK-UCL
Biological Process regulation of spontaneous synaptic transmissionBy SimilarityISS:ARUK-UCL
Biological Process sodium ion homeostasisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process sodium ion import across plasma membraneISS:ARUK-UCL
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process T cell chemotaxisManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process transepithelial ammonium transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process transepithelial chloride transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process transport across blood-brain barrier1 PublicationNAS:ARUK-UCL

Basolateral cell membrane

Deafness, autosomal dominant, 78 (DFNA78):
A form of non-syndromic deafness characterized by congenital, profound bilateral sensorineural hearing loss affecting all frequencies. Some patients may have mild motor delay early in life due to vestibular dysfunction. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Delpire-McNeill syndrome (DELMNES):
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia with delayed or absent walking, bilateral sensorineural deafness, poor or absent speech, and mild to severe intellectual disability. Additional variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect.
Kilquist syndrome (KILQS):
An autosomal recessive, multisystem disorder characterized by severe global developmental delay, sensorineural hearing loss, poor overall growth, mild facial dysmorphism, gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, and a striking lack of tear fluid, saliva, and sweat.