WNK3
Chr XXLRWNK lysine deficient protein kinase 3
Also known as: MRXS2, PRKWNK3, PRS
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
319 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 23 | 0 | 25 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 3 | 137 | 6 | 1 | 147 |
Likely Benign | 0 | 16 | 1 | 2 | 19 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 6 | |||
| Total | 6 | 153 | 30 | 3 | 198 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WNK3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools