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... See more...

Aliases for WNK4 Gene

Aliases for WNK4 Gene

  • WNK Lysine Deficient Protein Kinase 4 2 3 5
  • Serine/Threonine-Protein Kinase WNK4 3 4
  • Protein Kinase Lysine-Deficient 4 3 4
  • Protein Kinase With No Lysine 4 3 4
  • EC 2.7.11.1 4 51
  • PRKWNK4 3 4
  • Protein Kinase, Lysine Deficient 4 2
  • EC 2.7.11 51
  • PHA2B 3
  • WNK4 5

External Ids for WNK4 Gene

Previous HGNC Symbols for WNK4 Gene

  • PRKWNK4

Previous GeneCards Identifiers for WNK4 Gene

  • GC17P038188
  • GC17P040932
  • GC17P036697
  • GC17P042780
  • GC17P042881
  • GC17P043505
  • GC17P043569
  • GC17P043727
  • GC17P043869
  • GC17P042942
  • GC17P042896
  • GC17P042891
  • GC17P043039
  • GC17P043103
  • GC17P043247
  • GC17P043324
  • GC17P043354

Summaries for WNK4 Gene

Entrez Gene Summary for WNK4 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 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]

GeneCards Summary for WNK4 Gene

WNK4 (WNK Lysine Deficient Protein Kinase 4) is a Protein Coding gene. Diseases associated with WNK4 include Pseudohypoaldosteronism, Type Iib and Pseudohypoaldosteronism. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and PI3K / Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is WNK1.

UniProtKB/Swiss-Prot Summary for WNK4 Gene

  • Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).

Gene Wiki entry for WNK4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WNK4 Gene

Genomics for WNK4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for WNK4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042778 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 605.7 +0.9 855 4.1 HNRNPL GATAD2A TFE3 LEF1 IKZF1 RCOR2 JUND DDX20 MTA2 PHF21A WNK4 ENSG00000267681 DHX8 ENSG00000267758 NAGLU ENSG00000267340 HMGN2P15 EZH1 VPS25 LINC00910
GH17J042822 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 +44.2 44199 2.2 CREB1 GATAD2A CTCF ZNF629 TFE3 POLR2A RCOR2 BACH1 ETV6 JUND LOC107985007 PSME3 MIR6781 lnc-COA3-4 lnc-PSME3-1 BECN1 CNTD1 COA3 AOC2 AOC3
GH17J042802 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 12.1 +25.3 25292 4.4 GATAD2A NFKBIZ RCOR2 FOXA1 ZIC2 RXRB SP1 CEBPA SOX13 RFX3 CNTD1 WNK4 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 EZH1 AOC2 AOC3 PSMC3IP
GH17J042419 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.7 -357.8 -357757 5.2 RNF2 HNRNPL TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 JUND PRDM1 MTA2 CAVIN1 LOC102725238 lnc-ATP6V0A1-4 LINC00910 ENSG00000267681 CNTD1 NBR2 RETREG3 TUBG2 NAGLU
GH17J042623 Enhancer 1.3 Ensembl ENCODE dbSUPER 6.7 -154.9 -154900 4 CREB1 PRDM10 ZNF629 LEF1 IKZF1 CTCF JUND MTA2 PHF21A PKNOX1 MLX TUBG2 WNK4 RETREG3 lnc-TUBG2-1 ATP5MGP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WNK4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WNK4

Top Transcription factor binding sites by QIAGEN in the WNK4 gene promoter:
  • CUTL1
  • Pax-5
  • Roaz
  • RSRFC4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for WNK4 Gene

Genomic Locations for WNK4 Gene
chr17:42,779,701-42,797,066
(GRCh38/hg38)
Size:
17,366 bases
Orientation:
Plus strand
chr17:40,932,649-40,949,084
(GRCh37/hg19)
Size:
16,436 bases
Orientation:
Plus strand

Genomic View for WNK4 Gene

Genes around WNK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WNK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WNK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WNK4 Gene

Proteins for WNK4 Gene

  • Protein details for WNK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J92-WNK4_HUMAN
    Recommended name:
    Serine/threonine-protein kinase WNK4
    Protein Accession:
    Q96J92
    Secondary Accessions:
    • B0LPI0
    • Q8N8X3
    • Q8N8Z2
    • Q96DT8
    • Q9BYS5

    Protein attributes for WNK4 Gene

    Size:
    1243 amino acids
    Molecular mass:
    134739 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with the C-terminal region of KCNJ1 (By similarity). Interacts with WNK1 and WNK3 (By similarity). Interacts with KLHL3 (PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031, PubMed:26435498, PubMed:27727489).
    SequenceCaution:
    • Sequence=BAC04669.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAC48387.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Incomplete sequence.

    Three dimensional structures from OCA and Proteopedia for WNK4 Gene

    Alternative splice isoforms for WNK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WNK4 Gene

Selected DME Specific Peptides for WNK4 Gene

Q96J92:
  • ILHRDLK
  • EIGRGSF
  • EYPYSEC
  • KIGDLGLA
  • VIGTPEFMAPE
  • PEVKEIIEGCIR
  • FGMCMLEM
  • SSEESESS
  • TELMTSGTL
  • GTPEFMAPE

Post-translational modifications for WNK4 Gene

  • Phosphorylated by WNK1 and WNK3.
  • Ubiquitinated by the BCR(KLHL3) complex, leading to its degradation and increased expression of KCNJ1 at the cell surface. Ubiquitinated by the BCR(KLHL2) complex.
  • Ubiquitination at Lys328, Lys157, Lys387, Lys393, Lys175, Lys186, Lys450, Lys226, Lys454, Lys241, Lys1010, Lys1144, Lys1157, and Lys1158
  • Modification sites at PhosphoSitePlus

Other Protein References for WNK4 Gene

Antibody Products

  • Abcam antibodies for WNK4
  • Boster Bio Antibodies for WNK4
  • Santa Cruz Biotechnology (SCBT) Antibodies for WNK4

Domains & Families for WNK4 Gene

Gene Families for WNK4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for WNK4 Gene

Suggested Antigen Peptide Sequences for WNK4 Gene

GenScript: Design optimal peptide antigens:
  • WNK lysine deficient protein kinase 4, isoform CRA_a (B0LPI0_HUMAN)
  • cDNA FLJ52922, highly similar to Serine/threonine-protein kinase WNK4 (EC 2.7.11.1) (B4DXG4_HUMAN)
  • Protein kinase with no lysine 4 (WNK4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96J92

UniProtKB/Swiss-Prot:

WNK4_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
genes like me logo Genes that share domains with WNK4: view

Function for WNK4 Gene

Molecular function for WNK4 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:Q9H4A3};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:Q9H4A3};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activation requires autophosphorylation of Ser-335. Phosphorylation of Ser-331 also promotes increased activity (By similarity).

Enzyme Numbers (IUBMB) for WNK4 Gene

Phenotypes From GWAS Catalog for WNK4 Gene

Gene Ontology (GO) - Molecular Function for WNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IBA,ISS --
GO:0005515 protein binding IPI 17721439
GO:0005524 ATP binding IEA,ISS --
genes like me logo Genes that share ontologies with WNK4: view
genes like me logo Genes that share phenotypes with WNK4: view

Human Phenotype Ontology for WNK4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WNK4 Gene

MGI Knock Outs for WNK4:

Animal Model Products

  • Taconic Biosciences Mouse Models for WNK4

CRISPR Products

miRNA for WNK4 Gene

miRTarBase miRNAs that target WNK4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WNK4

No data available for Transcription Factor Targets and HOMER Transcription for WNK4 Gene

Localization for WNK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WNK4 Gene

Cell junction, tight junction. Note=Present exclusively in intercellular junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical collecting duct. WNK4 is part of the tight junction complex. {ECO:0000250 UniProtKB:Q80UE6}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WNK4 gene
Compartment Confidence
cytosol 4
plasma membrane 2
extracellular 2
nucleus 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for WNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol IEA,ISS --
GO:0005923 bicellular tight junction ISS --
GO:0016020 membrane IEA,ISS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with WNK4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WNK4 Gene

Pathways & Interactions for WNK4 Gene

genes like me logo Genes that share pathways with WNK4: view

Pathways by source for WNK4 Gene

1 GeneGo (Thomson Reuters) pathway for WNK4 Gene
  • Cell adhesion Tight junctions
1 Cell Signaling Technology pathway for WNK4 Gene

Gene Ontology (GO) - Biological Process for WNK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,ISS --
GO:0006811 ion transport IEA,ISS --
GO:0006821 chloride transport IEA --
GO:0008104 protein localization IEA --
GO:0010766 negative regulation of sodium ion transport IBA,ISS --
genes like me logo Genes that share ontologies with WNK4: view

No data available for SIGNOR curated interactions for WNK4 Gene

Drugs & Compounds for WNK4 Gene

(8) Drugs for WNK4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Chloride ion Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(5) Additional Compounds for WNK4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with WNK4: view

Transcripts for WNK4 Gene

mRNA/cDNA for WNK4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WNK4

Alternative Splicing Database (ASD) splice patterns (SP) for WNK4 Gene

No ASD Table

Relevant External Links for WNK4 Gene

GeneLoc Exon Structure for
WNK4

Expression for WNK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WNK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WNK4 Gene

This gene is overexpressed in Colon - Transverse (x9.4), Kidney - Cortex (x8.9), Esophagus - Mucosa (x6.2), and Prostate (x5.6).

Protein differential expression in normal tissues from HIPED for WNK4 Gene

This gene is overexpressed in Heart (53.9) and Rectum (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WNK4 Gene



Protein tissue co-expression partners for WNK4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WNK4

SOURCE GeneReport for Unigene cluster for WNK4 Gene:

Hs.105448

mRNA Expression by UniProt/SwissProt for WNK4 Gene:

Q96J92-WNK4_HUMAN
Tissue specificity: Expressed in kidney, colon and skin.

Evidence on tissue expression from TISSUES for WNK4 Gene

  • Kidney(4.7)
  • Blood(2.4)
  • Nervous system(2.3)
  • Heart(2.3)
  • Liver(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WNK4 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
General:
  • blood vessel
genes like me logo Genes that share expression patterns with WNK4: view

Orthologs for WNK4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for WNK4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WNK4 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia WNK4 30 31
  • 88.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WNK4 30 31
  • 87.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Wnk4 30 17 31
  • 85.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Wnk4 30
  • 84.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia WNK4 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WNK4 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC777580 30
  • 70.94 (n)
WNK4 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WNK4 31
  • 48 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii WNK4 (1 of 4) 31
  • 87 (a)
OneToMany
WNK4 (3 of 4) 31
  • 37 (a)
OneToMany
CABZ01084815.1 31
  • 31 (a)
OneToMany
CABZ01069042.1 31
  • 31 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Wnk 31
  • 14 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea wnk-1 31
  • 19 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os11g0160300 30
  • 51.62 (n)
Wheat
(Triticum aestivum)
Liliopsida Ta.28467 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 72 (a)
OneToMany
Species where no ortholog for WNK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)

Evolution for WNK4 Gene

ENSEMBL:
Gene Tree for WNK4 (if available)
TreeFam:
Gene Tree for WNK4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WNK4: view image

Paralogs for WNK4 Gene

Paralogs for WNK4 Gene

(27) SIMAP similar genes for WNK4 Gene using alignment to 4 proteins:

  • WNK4_HUMAN
  • B0LPI0_HUMAN
  • K7ENT7_HUMAN
  • K7EPB3_HUMAN
genes like me logo Genes that share paralogs with WNK4: view

Variants for WNK4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WNK4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
718799 Benign: not provided 42,793,658(+) C/G MISSENSE_VARIANT
718800 Benign: not provided 42,794,833(+) ATCT/A INFRAME_DELETION
727141 Benign/Likely Benign: Pseudohypoaldosteronism type 2B; not provided 42,795,634(+) C/G MISSENSE_VARIANT
739547 Likely Benign: not provided 42,794,911(+) C/T SYNONYMOUS_VARIANT
740151 Likely Benign: not provided 42,794,628(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for WNK4 Gene

Structural Variations from Database of Genomic Variants (DGV) for WNK4 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv827998 CNV loss 20364138
nsv833450 CNV loss 17160897

Variation tolerance for WNK4 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WNK4 Gene

Human Gene Mutation Database (HGMD)
WNK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WNK4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNK4 Gene

Disorders for WNK4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for WNK4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WNK4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WNK4_HUMAN
  • Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491]: An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269 PubMed:11498583, ECO:0000269 PubMed:23387299, ECO:0000269 PubMed:23453970, ECO:0000269 PubMed:23576762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for WNK4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with WNK4: view

No data available for Genatlas for WNK4 Gene

Publications for WNK4 Gene

  1. Association of Ala589Ser polymorphism of WNK4 gene with essential hypertension in a high-risk Chinese population. (PMID: 19340547) Sun ZJ … Zhao YY (The journal of physiological sciences : JPS 2009) 3 23 41
  2. The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. (PMID: 15824464) Matayoshi T … Kawano Y (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 23 41
  3. WNK4 intron 10 polymorphism is not associated with hypertension. (PMID: 14967840) Speirs HJ … Morris BJ (Hypertension (Dallas, Tex. : 1979) 2004) 3 23 41
  4. Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population. (PMID: 15309683) Kokubo Y … Miyata T (Journal of human genetics 2004) 3 23 41
  5. Genetic variants of WNK4 in whites and African Americans with hypertension. (PMID: 12719438) Erlich PM … DeStefano AL (Hypertension (Dallas, Tex. : 1979) 2003) 3 23 41

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