SLC24A2

Chr 9

solute carrier family 24 member 2

Also known as: NCKX2

NCBI Gene: 25769 ENSG00000155886 UniProt: Q9UI40 OMIM: 609838

This gene encodes a calcium, potassium:sodium antiporter that transports calcium and potassium ions in exchange for sodium ions, functioning in retinal cones and brain neurons to regulate intracellular calcium levels essential for synaptic plasticity, learning, and memory. Mutations cause autosomal recessive congenital stationary night blindness affecting vision, and potentially neurodevelopmental disorders given the protein's role in neuronal calcium regulation. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.57

LOEUF

Multiple*

Mechanism· predicted