SLC12A2
Domain
The RFXV motifs mediate binding with OXSR1/OSR1 and STK39/SPAK.
Function
Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597714, PubMed:35585053, PubMed:36239040, PubMed:36306358, PubMed:7629105). Plays a vital role in the regulation of ionic balance and cell volume (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:7629105).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated at Thr-203, Thr-207 and Thr-212 by OXSR1/OSR1 and STK39/SPAK downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4), promoting its activity.
Sequence Similarities
Belongs to the SLC12A transporter family.
Tissue Specificity
Expressed in many tissues.
Cellular localization
- Basolateral cell membrane
- Multi-pass membrane protein
Alternative names
NKCC1, SLC12A2, Solute carrier family 12 member 2, Basolateral Na-K-Cl symporter, Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2, Na-K-2Cl cotransporter 1, BSC2, hNKCC1