WNK4 (WNK lysine deficient protein kinase 4)

2014-08-01  

Identity

HGNC
LOCATION
17q21.2
LOCUSID
ALIAS
PHA2B,PRKWNK4
FUSION GENES

Other Information

Locus ID:

NCBI: 65266
MIM: 601844
HGNC: 14544
Ensembl: ENSG00000126562

Variants:

dbSNP: 65266
ClinVar: 65266
TCGA: ENSG00000126562
COSMIC: WNK4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126562ENST00000246914Q96J92
ENSG00000126562ENST00000587745K7EPB3
ENSG00000126562ENST00000591448K7ENT7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA213KCNJ1GenePathwayassociated23788015
PA305SCNN1AGenePathwayassociated23788015
PA306SCNN1BGenePathwayassociated23788015
PA307SCNN1GGenePathwayassociated23788015
PA321SLC12A3GenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA38243STK39GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
150707792004Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins.69
233872992013The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction.63
166881222006WNK4 kinase regulates surface expression of the human sodium chloride cotransporter in mammalian cells.61
173604712007An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis.58
147699282004WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia.53
194014672009WNK4 diverts the thiazide-sensitive NaCl cotransporter to the lysosome and stimulates AP-3 interaction.51
198758132010WNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathway.32
205256932010Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members.30
170188462007WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.27
168207872006WNK kinases regulate sodium chloride and potassium transport by the aldosterone-sensitive distal nephron.25

Citation

Dessen P

WNK4 (WNK lysine deficient protein kinase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54785/wnk4