WNK4 (WNK lysine deficient protein kinase 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65266
Gene name Gene Name - the full gene name approved by the HGNC.
WNK lysine deficient protein kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WNK4
Synonyms (NCBI Gene) Gene synonyms aliases
PHA2B, PRKWNK4
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs137853092 C>G Pathogenic Coding sequence variant, missense variant
rs137853093 G>A Pathogenic Coding sequence variant, missense variant
rs137853094 A>C Pathogenic Coding sequence variant, missense variant
rs137853095 C>T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs193922734 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT004559 hsa-miR-296-5p Luciferase reporter assay, qRT-PCR, Western blot 20561597
MIRT004559 hsa-miR-296-5p Luciferase reporter assay, qRT-PCR, Western blot 20561597
MIRT2369163 hsa-miR-383 CLIP-seq
MIRT2369164 hsa-miR-4422 CLIP-seq
MIRT2369165 hsa-miR-4711-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(62)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002021 Process Response to dietary excess IEA
GO:0003096 Process Renal sodium ion transport IEA
GO:0003096 Process Renal sodium ion transport ISS
GO:0004672 Function Protein kinase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601844 14544 ENSG00000126562
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96J92
Protein name Serine/threonine-protein kinase WNK4 (EC 2.7.11.1) (Protein kinase lysine-deficient 4) (Protein kinase with no lysine 4)
Protein function Serine/threonine-protein kinase component of the WNK4-SPAK/OSR1 kinase cascade, which acts as a key regulator of ion transport in the distal nephron and blood pressure (By similarity). The WNK4-SPAK/OSR1 kinase cascade is composed of WNK4, which
PDB 2V3S , 4CH9 , 4CHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 174 → 432 Protein kinase domain Domain
PF12202 OSR1_C 453 → 515 Oxidative-stress-responsive kinase 1 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, colon and skin. {ECO:0000269|PubMed:11571656}.
Sequence 
MLASPATETTVLMSQTEADLALRPPPPLGTAGQPRLGPPPRRARRFSGKAEPRPRSSRLS
RRSSVDLGLLSSWSLPASPAPDPPDPPDSAGPGPARSPPPSSKEPPEGTWTEGAPVKAAE
DSARPELPDSAVGPGSREPLRVPEAVALERRREQEEKEDMETQAVATSPDGRYLKFDIEI
GRGSFKTVYRGLDTDTTVEVAWCELQTRKLSRAERQRFSEEVEMLKGLQHPNIVRFYDSW
KSVLRGQVCIVLVTELMTSGTLKTYLRRFREMKPRVLQRWSRQILRGLHFLHSRVPPILH
RDLKCDNVFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYDEAVDVYA
FGMCMLEMATSEYPYSECQNAAQIYRKVTSGRKPNSFHKVKIPEVKEIIEGCIRTDKNER
FTIQDLLAHAFFREERGVHVELAEEDDGEKPGLKLWLRMEDARRGGRPRDNQAIEFLFQL
GRDAAEEVAQEMVALGLVCEADYQPVARAVRERVAAIQRKREKLRKARELEALPPEPGPP
PATVPMAPGPPSVFPPEPEEPEADQHQPFLFRHASYSSTTSDCETDGYLSSSGFLDASDP
ALQPPGGVPSSLAESHLCLPSAFALSIPRSGPGSDFSPGDSYASDAASGLSDVGEGMGQM
RRPPGRNLRRRPRSRLRVTSVSDQNDRVVECQLQTHNSKMVTFRFDLDGDSPEEIAAAMV
YNEFILPSERDGFLRRIREIIQRVETLLKRDTGPMEAAEDTLSPQEEPAPLPALPVPLPD
PSNEELQSSTSLEHRSWTAFSTSSSSPGTPLSPGNPFSPGTPISPGPIFPITSPPCHPSP
SPFSPISSQVSSNPSPHPTSSPLPFSSSTPEFPVPLSQCPWSSLPTTSPPTFSPTCSQVT
LSSPFFPPCPSTSSFPSTTAAPLLSLASAFSLAVMTVAQSLLSPSPGLLSQSPPAPPSPL
PSLPLPPPVAPGGQESPSPHTAEVESEASPPPARPLPGEARLAPISEEGKPQLVGRFQVT
SSKEPAEPLPLQPTSPTLSGSPKPSTPQLTSESSDTEDSAGGGPETREALAESDRAAEGL
GAGVEEEGDDGKEPQVGGSPQPLSHPSPVWMNYSYSSLCLSSEESESSGEDEEFWAELQS
LRQKHLSEVETLQTLQKKEIEDLYSRLGKQPPPGIVAPAAMLSSRQRRLSKGSFPTSRRN
SLQRSEPPGPGIMRRNSLSGSSTGSQEQRASKGVTFAGDVGRM
Sequence length 1243
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Parathyroid hormone synthesis, secretion and action   Stimuli-sensing channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pseudohypoaldosteronism pseudohypoaldosteronism type 2b rs137853092, rs137853093, rs137853094 N/A
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 36793496
Diabetes Mellitus Type 2 Associate 27314050
Essential Hypertension Associate 19330605, 27314050
Gordon syndrome Associate 23387299
Hyperkalemia Associate 17380208
Hypertension Associate 14681216, 16669787, 17380208, 18312414, 19330605, 21520334, 23387299, 24266877, 24641320, 25266424, 27314050
Medulloblastoma Associate 21652733
Neoplasms Associate 17578925
Pseudohypoaldosteronism Associate 10869238, 17380208, 18312414, 26732173, 30931564, 31044551, 35093948