WNK4 Chromosome 17
WNK lysine deficient protein kinase 4
Upload your DNA to see your personal genotypes for variants in WNK4.
What This Gene Does
This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
WNK lysine deficient protein kinases
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000126562
Associated Conditions (4)
Pseudohypoaldosteronism type 2B
Inborn genetic diseases
WNK4-related disorder
Renal tubulopathies
Key Variants
RS137853095
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
Health Risk
RS140897013
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B
Health Risk
RS141615112
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145020225
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B
Health Risk
RS146190504
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146216767
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199712166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199775692
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B
Health Risk
RS200182836
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B
Health Risk
RS200438705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200593980
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
Health Risk
RS200640984
Conflicting classifications of pathogenicity
WNK4-related disorder, Pseudohypoaldosteronism type 2B, WNK4-related disorder
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853095 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS140897013 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS141615112 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145020225 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS146190504 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146216767 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199712166 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199775692 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS200182836 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS200438705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200593980 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS200640984 | Health Risk | Conflicting classifications of pathogenicity | WNK4-related disorder, Pseudohypoaldosteronism type 2B, WNK4-related disorder |
| RS202060087 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudohypoaldosteronism type 2B, Inborn genetic diseases |
| RS369221665 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS370770635 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS373427674 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS374889836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS387907562 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS545588214 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS61755595 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755600 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755602 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61755607 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS61755628 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS748879947 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752469952 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudohypoaldosteronism type 2B, Inborn genetic diseases |
| RS754495845 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS757050478 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758058076 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pseudohypoaldosteronism type 2B, Inborn genetic diseases |
| RS761294614 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS765644398 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS769815091 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS772583212 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS773898452 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Inborn genetic diseases, Pseudohypoaldosteronism type 2B |
| RS778394259 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS778501298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS137853093 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2B, Renal tubulopathies, Pseudohypoaldosteronism type 2B |
| RS2144087861 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS2544005779 | Health Risk | Likely pathogenic | WNK4-related disorder, WNK4-related disorder |
| RS137853092 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS137853094 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |
| RS2143987485 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B |