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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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WNK3
WNK lysine deficient protein kinase 3
Chromosome X Β· Xp11.22
NCBI Gene: 65267Ensembl: ENSG00000196632.13HGNC: HGNC:14543UniProt: Q9BYP7
64PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell volume homeostasisosmosensory signaling pathwayregulation of monoatomic cation transmembrane transportnegative regulation of apoptotic processPrieto syndromeNeurodevelopmental disorderX-linked intellectual disability - dysmorphism - cerebral atrophyneurodegenerative disease
✦AI Summary

WNK3 is a serine/threonine kinase on chromosome X.22 that plays a central role in electrolyte homeostasis and cell volume regulation 1. As a component of the WNK3-SPAK/OSR1 kinase cascade, WNK3 senses hyperosmotic stress and cell shrinkage through a volume-sensitive mechanism independent of chloride concentration 2. Upon activation, WNK3 undergoes liquid-liquid phase separation to form membraneless compartments that concentrate substrates OXSR1/OSR1 and STK39/SPAK, promoting their phosphorylation and downstream regulation of cation-chloride cotransporters 3. WNK3 directly phosphorylates and activates Na-K-Cl cotransporters (NKCC1, NKCC2) while inhibiting K-Cl cotransporters (KCC1-3), collectively promoting ion influx and preventing efflux 4. Additionally, WNK3 regulates intracellular potassium levels independent of chloride sensing 5 and enhances TRPV5/TRPV6-mediated calcium influx. Pathogenic WNK3 variants cause X-linked intellectual disability with variable epilepsy through impaired KCC2 phosphoregulation, critical for synaptic inhibition development 6. WNK3 dysfunction is also associated with Prieto syndrome and contributes to vascular and renal pathology in diabetes 7.

Sources cited
1
WNK3 gene location on chromosome Xp11.22, transcript structure, tissue expression, and protein organization
PMID: 15194194
2
WNK3 phase separation and formation of membraneless compartments to concentrate substrates OXSR1/OSR1 and STK39/SPAK
PMID: 22989884
3
WNK3 is a cell volume-sensitive kinase regulated by tonicity changes, not chloride concentration
PMID: 32579473
4
WNK3 activates NKCC1/NKCC2/NCC and inhibits KCC1-4, promoting chloride influx and preventing efflux
PMID: 22179001
5
WNK3 is inhibited by potassium ions independent of chloride-dependent mechanisms
PMID: 33439774
6
Pathogenic WNK3 variants cause X-linked intellectual disability and epilepsy through impaired KCC2 phosphorylation affecting synaptic inhibition
PMID: 35678782
7
WNK3 upregulation in diabetes contributes to vascular dysfunction and altered sodium reabsorption
PMID: 34343486
8
WNK3 variants identified in patients with primary male infertility through whole exome sequencing
PMID: 39267058
Disease Associationsβ“˜21
Prieto syndromeOpen Targets
0.71Strong
Neurodevelopmental disorderOpen Targets
0.54Moderate
X-linked intellectual disability - dysmorphism - cerebral atrophyOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.32Weak
autismOpen Targets
0.27Weak
Abnormal facial shapeOpen Targets
0.27Weak
congenital laryngomalaciaOpen Targets
0.27Weak
Delayed speech and language developmentOpen Targets
0.27Weak
LaryngomalaciaOpen Targets
0.27Weak
Moderate intellectual disabilityOpen Targets
0.27Weak
RetrognathiaOpen Targets
0.27Weak
sleep apneaOpen Targets
0.27Weak
Subglottic stenosisOpen Targets
0.27Weak
neuroinflammatory disorderOpen Targets
0.16Weak
gliomaOpen Targets
0.08Suggestive
Prieto syndromeUniProt
Pathogenic Variants10
NM_020922.5(WNK3):c.1162C>T (p.Gln388Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 388
NM_020922.5(WNK3):c.4978G>T (p.Glu1660Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1660
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)Likely pathogenic
9 conditions
β˜…β˜†β˜†β˜†2023β†’ Residue 1334
NM_020922.5(WNK3):c.1228G>T (p.Gly410Ter)Pathogenic
Prieto syndrome
β˜…β˜†β˜†β˜†β†’ Residue 410
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)Pathogenic
Neurodevelopmental disorder|Prieto syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 300
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)Pathogenic
Neurodevelopmental disorder|Prieto syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 241
NM_020922.5(WNK3):c.1089+1G>APathogenic
Neurodevelopmental disorder|Prieto syndrome
β˜†β˜†β˜†β˜†2023
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)Pathogenic
Neurodevelopmental disorder|Prieto syndrome
β˜†β˜†β˜†β˜†2023β†’ Residue 204
NM_020922.5(WNK3):c.1820A>T (p.Glu607Val)Pathogenic
Neurodevelopmental disorder
β˜†β˜†β˜†β˜†2022β†’ Residue 607
NM_020922.5(WNK3):c.538-2A>GPathogenic
Neurodevelopmental disorder|Nonpapillary renal cell carcinoma
β˜†β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
SLC12A2Protein interaction91%KLHL2Protein interaction89%KLHL3Protein interaction89%FAM120CProtein interaction87%SLC12A4Protein interaction83%SLC12A5Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
96%
Brain
32%
Heart
7%
Lung
5%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
WNK3SLC12A2KLHL2KLHL3FAM120CSLC12A4SLC12A5
PROTEIN STRUCTURE
Preparing viewer…
PDB5O1V Β· 1.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.23Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.15 [0.11–0.23]
RankingsWhere WNK3 stands among ~20K protein-coding genes
  • #7,332of 20,598
    Most Researched64
  • #2,866of 5,498
    Most Pathogenic Variants10
  • #630of 17,882
    Most Constrained (LOEUF)0.23 Β· top 5%
Genes detectedWNK3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
X-chromosome-wide association study for Alzheimer's disease.
PMID: 39633006
Mol Psychiatry Β· 2025
1.00
2
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
0.90
3
WNKs are potassium-sensitive kinases.
PMID: 33439774
Am J Physiol Cell Physiol Β· 2021
0.80
4
WNK3 is a putative chloride-sensing kinase.
PMID: 22179001
Cell Physiol Biochem Β· 2011
0.70
5
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
PMID: 35678782
Genet Med Β· 2022
0.60