WNK2
Chr 9WNK lysine deficient protein kinase 2
Also known as: NY-CO-43, P/OKcl.13, PRKWNK2, SDCCAG43
WNK2 encodes a serine/threonine kinase that regulates electrolyte homeostasis through phosphorylation of ion cotransporters and modulates cell signaling pathways including ERK/MAPK. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants, indicating critical importance for normal development.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WNK2 · 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