Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65266
Gene name	WNK lysine deficient protein kinase 4
Gene symbol	WNK4
Synonyms (NCBI Gene)	PHA2BPRKWNK4
Chromosome	17
Chromosome location	17q21.2
Summary	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

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
rs193922735	C>T	Pathogenic	Missense variant, coding sequence variant
rs193922736	G>C	Pathogenic	Missense variant, coding sequence variant
rs193922737	A>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004559	hsa-miR-296-5p	Luciferase reporter assayqRT-PCRWestern blot	20561597
MIRT004559	hsa-miR-296-5p	Luciferase reporter assayqRT-PCRWestern blot	20561597
MIRT2369163	hsa-miR-383	CLIP-seq
MIRT2369164	hsa-miR-4422	CLIP-seq
MIRT2369165	hsa-miR-4711-5p	CLIP-seq
MIRT2369166	hsa-miR-4772-5p	CLIP-seq

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
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	16832045
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	17721439, 23453970, 23576762, 35044719, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS	11498583
GO:0005923	Component	Bicellular tight junction	ISS
GO:0006468	Process	Protein phosphorylation	ISS
GO:0006821	Process	Chloride transport	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008200	Function	Ion channel inhibitor activity	IEA
GO:0008200	Function	Ion channel inhibitor activity	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010766	Process	Negative regulation of sodium ion transport	IEA
GO:0010766	Process	Negative regulation of sodium ion transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IEA
GO:0031404	Function	Chloride ion binding	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035932	Process	Aldosterone secretion	IEA
GO:0042116	Process	Macrophage activation	IEA
GO:0042592	Process	Homeostatic process	IEA
GO:0044297	Component	Cell body	IEA
GO:0050801	Process	Monoatomic ion homeostasis	IEA
GO:0050801	Process	Monoatomic ion homeostasis	IMP	23453970, 23576762
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070294	Process	Renal sodium ion absorption	IDA	18270262
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0070294	Process	Renal sodium ion absorption	IMP	23453970, 23576762
GO:0070294	Process	Renal sodium ion absorption	ISS	14608358, 17975670
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072156	Process	Distal tubule morphogenesis	IMP	23453970, 23576762
GO:0090188	Process	Negative regulation of pancreatic juice secretion	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IEA
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	ISS
GO:1903764	Process	Regulation of potassium ion export across plasma membrane	IEA

MIM	HGNC	e!Ensembl
601844	14544	ENSG00000126562

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

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action		Stimuli-sensing channels

214

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pseudohypoaldosteronism type 2B	Likely pathogenic; Pathogenic	rs2144087861, rs2143987485, rs137853092, rs137853093, rs137853094	RCV001533200 RCV001849665 RCV000008099 RCV000008100 RCV000008101
Renal tubulopathies	Likely pathogenic	rs137853093	RCV006276049
WNK4-related disorder	Likely pathogenic	rs2544005779	RCV003393132

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs55781437	RCV005894622
Colon adenocarcinoma	Benign	rs2290042, rs55781437	RCV005894630 RCV005894620
Colorectal cancer	Benign	rs55781437	RCV005894623
Lung cancer	Benign	rs55781437	RCV005894629
Malignant tumor of esophagus	Benign	rs55781437	RCV005894621
Melanoma	Benign	rs55781437	RCV005894628
Ovarian serous cystadenocarcinoma	Benign	rs2290042, rs55781437	RCV005894632 RCV005894625
Pseudohypoaldosteronism type 2A	Conflicting classifications of pathogenicity	rs765644398, rs200187290	RCV000404592 RCV000362014
Sarcoma	Benign	rs2290042, rs55781437	RCV005894631 RCV005894624
Thymoma	Benign	rs55781437	RCV005894627
Uterine carcinosarcoma	Benign	rs55781437	RCV005894626

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

WNK4 (WNK lysine deficient protein kinase 4)