WNK3

Chr XXLR

WNK lysine deficient protein kinase 3

Also known as: MRXS2, PRKWNK3, PRS

NCBI Gene: 65267 ENSG00000196632 UniProt: Q9BYP7 OMIM: 300358

WNK3 encodes a serine/threonine protein kinase that regulates electrolyte homeostasis by phosphorylating and activating downstream kinases that control ion cotransporter activity, and also enhances calcium transport through TRPV5 and TRPV6 channels. Mutations cause Prieto syndrome, an X-linked recessive disorder. The gene is highly constrained against loss-of-function variants, indicating intolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Prieto syndromeMIM #309610

XLR

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted