CNKSR3

Chr 6

CNKSR family member 3

Also known as: CNK3, CNK3/IPCEF1, MAGI1

NCBI Gene: 154043 ENSG00000153721 UniProt: Q6P9H4

CNKSR3 encodes a scaffold protein that regulates epithelial sodium channel (ENaC)-mediated sodium transport by coordinating the assembly of an ENaC-regulatory complex and controlling ENaC cell surface expression. Mutations cause autosomal recessive intellectual disability with seizures and hyponatremia. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.49), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in negative regulation of ERK1 and ERK2 cascade; negative regulation of peptidyl-serine phosphorylation; and positive regulation of sodium ion transport. Predicted to act upstream of or within positive regulation of sodium ion transmembrane transporter activity. Predicted to be located in apical plasma membrane and cytoplasm. [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

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P/LP missense

0.49

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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