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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WNK2
WNK lysine deficient protein kinase 2
Chromosome 9 · 9q22.31
NCBI Gene: 65268Ensembl: ENSG00000165238.17HGNC: HGNC:14542UniProt: E9PCD1
65PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein autophosphorylationmonoatomic ion homeostasisnegative regulation of ERK1 and ERK2 cascadeneurodegenerative diseaseirritable bowel syndromeosteitis deformansNon-Neoplastic Bile Duct Disorder
✦AI Summary

WNK2 is a serine/threonine protein kinase that functions as a critical regulator of electrolyte homeostasis and cell signaling. As the upstream component of the WNK2-SPAK/OSR1 kinase cascade, WNK2 phosphorylates and activates downstream kinases OXSR1 and SPAK, which then regulate ion cotransporters controlling sodium and potassium-chloride transport 1. WNK2 negatively regulates ERK/MAPK pathway activation by modulating PAK1 activity through control of RHOA and RAC1 balance, thereby suppressing cell cycle progression 23. WNK2 functions as a tumor suppressor gene with inactivation occurring through promoter methylation and frameshift mutations in various cancers. In gliomas, WNK2 silencing increases Rac1 activation and upregulates MMP2 and JNK, promoting cell invasion and proliferation 45. WNK2 also inhibits autophagic flux through mTOR-independent mechanisms in glioblastoma 6. Beyond oncology, WNK2 serves as a PAX6 downstream target essential for corneal epithelial cell differentiation and homeostasis; its downregulation impairs corneal integrity 7. Germline WNK2 variants have been associated with serrated polyposis syndrome pathogenesis 8. Genetic polymorphisms in WNK2 influence prognosis in intracerebral hemorrhage patients receiving Edaravone treatment 9, suggesting clinical utility in personalized medicine approaches.

Sources cited
1
WNK2-SPAK/OSR1 kinase cascade regulates ion cotransporters and electrolyte homeostasis
PMID: 21733846
2
WNK2 negatively regulates ERK/MAPK pathway and cell cycle progression via PAK1 modulation
PMID: 17667937
3
WNK2 controls RHOA/RAC1 balance to suppress MAPK pathway activation
PMID: 18593598
4
WNK2 promoter methylation in gliomas (17.5%) silences tumor suppressor, increasing Rac1 activation and invasion
PMID: 23035050
5
WNK2 silencing in gliomas associates with increased MMP2 and JNK activation
PMID: 25596741
6
WNK2 inhibits autophagic flux in glioblastoma through mTOR-independent pathway
PMID: 32093151
7
WNK2 is PAX6 downstream target essential for corneal epithelial cell differentiation and homeostasis
PMID: 39453672
8
Germline WNK2 variants identified in serrated polyposis syndrome patients
PMID: 36270769
9
WNK2 polymorphism rs16936752 associates with Edaravone efficacy in intracerebral hemorrhage patients
PMID: 39433142
10
WNK2 frameshift mutations occur in MSI-H colorectal cancers with reduced expression
PMID: 38091885
11
WNK2 hypermethylation occurs in meningiomas with increasing frequency by grade
PMID: 28527972
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.41Moderate
irritable bowel syndromeOpen Targets
0.34Weak
osteitis deformansOpen Targets
0.32Weak
Non-Neoplastic Bile Duct DisorderOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
Fuchs' endothelial dystrophyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.24Weak
preeclampsiaOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.23Weak
inherited retinal dystrophyOpen Targets
0.22Weak
gliomaOpen Targets
0.20Weak
Pleural MesotheliomaOpen Targets
0.20Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
astrocytomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
papillary thyroid carcinomaOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
Pathogenic Variants1
NM_006648.4(WNK2):c.4801dup (p.Asp1601fs)Likely pathogenic
Inborn genetic diseases
★☆☆☆2016→ Residue 1601
View on ClinVar ↗
Related Genes
OXSR1Protein interaction80%FGD3Protein interaction76%SLC12A3Protein interaction71%WNK1Protein interaction68%NEK4Shared pathway38%NRBP2Shared pathway29%
Tissue Expression6 tissues
Heart
100%
Brain
29%
Liver
3%
Ovary
1%
Lung
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
WNK2OXSR1FGD3SLC12A3WNK1NEK4NRBP2
PROTEIN STRUCTURE
Preparing viewer…
PDB6ELM · 1.14 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.12Tolerant
Observed/Expected LoF0.41 [0.34–0.51]
RankingsWhere WNK2 stands among ~20K protein-coding genes
  • #7,226of 20,598
    Most Researched65
  • #5,024of 5,498
    Most Pathogenic Variants1
  • #3,090of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedWNK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers.
PMID: 38091885
Pathol Res Pract · 2024
1.00
2
Silencing of the tumor suppressor gene WNK2 is associated with upregulation of MMP2 and JNK in gliomas.
PMID: 25596741
Oncotarget · 2015
0.90
3
PAX6-WNK2 Axis Governs Corneal Epithelial Homeostasis.
PMID: 39453672
Invest Ophthalmol Vis Sci · 2024
0.80
4
Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas and triggers Rac1-mediated tumour cell invasiveness.
PMID: 23035050
Hum Mol Genet · 2013
0.70
5
WNK2 Inhibits Autophagic Flux in Human Glioblastoma Cell Line.
PMID: 32093151
Cells · 2020
0.60