WNK3

Chr X

WNK lysine deficient protein kinase 3

Also known as: MRXS2, PRKWNK3, PRS

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]

ResearchGenerating clinical summary…
LOFmechanismLOEUF 0.19
Clinical SummaryWNK3
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.19LOEUF
pLI 1.000
Z-score 6.26
OE 0.09 (0.050.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.55Z-score
OE missense 0.71 (0.660.77)
453 obs / 633.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.09 (0.050.19)
00.351.4
Missense OE?0.71 (0.660.77)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 5 / 55.1Missense obs/exp: 453 / 633.8Syn Z: 1.68
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateWNK3-related neurodevelopmental disorderOTHERXLR

This gene — mechanism propensity

DN
0.2698th %ile
GOF
0.3491th %ile
LOF
0.82top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.19

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

WNK3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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