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

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PHA2B
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

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 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
MIRT2369166	hsa-miR-4772-5p	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	17721439, 23453970, 23576762
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	ISS
GO:0005923	Component	Bicellular tight junction	ISS
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	ISS
GO:0006811	Process	Ion transport	ISS
GO:0006821	Process	Chloride transport	IEA
GO:0008104	Process	Protein localization	IEA
GO:0010766	Process	Negative regulation of sodium ion transport	IBA	21873635
GO:0010766	Process	Negative regulation of sodium ion transport	ISS
GO:0016020	Component	Membrane	ISS
GO:0019869	Function	Chloride channel inhibitor activity	IBA	21873635
GO:0019869	Function	Chloride channel inhibitor activity	IDA	17673510
GO:0019870	Function	Potassium channel inhibitor activity	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0050794	Process	Regulation of cellular process	ISS
GO:0050801	Process	Ion homeostasis	IBA	21873635
GO:0050801	Process	Ion homeostasis	IMP	23453970, 23576762
GO:0070294	Process	Renal sodium ion absorption	IBA	21873635
GO:0070294	Process	Renal sodium ion absorption	IMP	23453970, 23576762
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:0106311	Function	Protein threonine kinase activity	IEA
GO:1903288	Process	Positive regulation of potassium ion import across plasma membrane	IBA	21873635
GO:2000651	Process	Positive regulation of sodium ion transmembrane transporter activity	IBA	21873635

MIM	HGNC	e!Ensembl
601844	14544	ENSG00000126562

Protein

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

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Hypertension	Hypertensive disease	rs13306026	22949526
Pseudohypoaldosteronism	Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Pseudohypoaldosteronism, Type I, Autosomal Recessive, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism, Type IIb, Pseudohypoaldosteronism type 2B	rs137853092, rs137853093, rs137853094, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570 View all (53 more)	22949526, 23387299, 23453970, 23576762, 11498583

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
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)