SLC9C2

Chr 1

solute carrier family 9 member C2 (putative)

Also known as: NHE11, SLC9A11

NCBI Gene: 284525 ENSG00000162753 UniProt: Q5TAH2

This protein functions as a sodium/potassium-proton antiporter that regulates intracellular pH and ion transport across the plasma membrane. Mutations cause autosomal recessive primary ciliary dyskinesia with intellectual disability and microcephaly. The gene is highly constrained against loss-of-function variants (LOEUF 0.46), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

Predicted to enable potassium:proton antiporter activity and sodium:proton antiporter activity. Predicted to be involved in potassium ion transmembrane transport; regulation of intracellular pH; and sodium ion import across plasma membrane. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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