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WNK3 Gene

protein-coding   GIFtS: 65
GCID: GC0XM054235

WNK Lysine Deficient Protein Kinase 3

(Previous names: protein kinase, lysine deficient 3)
(Previous symbol: PRKWNK3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WNK Lysine Deficient Protein Kinase 31 2     Protein Kinase, Lysine Deficient 31
PRKWNK31 2 3 5     Serine/Threonine-Protein Kinase WNK32
Protein Kinase With No Lysine 32 3     Protein Kinase Lysine-Deficient 33
EC 2.7.11.13 8     EC 2.7.118
KIAA15663 5     

External Ids:    HGNC: 145431   Entrez Gene: 652672   Ensembl: ENSG000001966327   OMIM: 3003585   UniProtKB: Q9BYP73   

Export aliases for WNK3 gene to outside databases

Previous GC identifers: GC0XM054106 GC0XM051270


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WNK3 Gene:
This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These
family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I.
This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a
role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, May 2010)

GeneCards Summary for WNK3 Gene:
WNK3 (WNK lysine deficient protein kinase 3) is a protein-coding gene. Diseases associated with WNK3 include pseudohypoaldosteronism type ii, and pseudohypoaldosteronism. GO annotations related to this gene include protein serine/threonine kinase activity and protein kinase activity. An important paralog of this gene is WNK1.

UniProtKB/Swiss-Prot: WNK3_HUMAN, Q9BYP7
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. Phosphorylates WNK4. Regulates the
phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their
membrane expression level via a kinase-dependent pathway. Inhibits the activity of KCNJ1 by decreasing its
expression at the cell membrane in a non-catalytic manner
Function: Isoform 1, isoform 2, isoform 3 and isoform 4 stimulate the activity of SLC12A1, SLC12A2 and SLC12A3 and
inhibit the activity of SLC12A4, SLC12A5, SLC12A6 and SLC12A7. According to PubMed:19470686, isoform 1 inhibits
the activity of SLC12A3

Gene Wiki entry for WNK3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WNK3 gene promoter:
         AhR   RFX1   RREB-1   Nkx2-5   CUTL1   Arnt   FOXJ2 (long isoform)   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWNK3 promoter sequence
   Search Chromatin IP Primers for WNK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WNK3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.22

WNK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WNK3 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM054235:  view genomic region     (about GC identifiers)

Start:
54,219,256 bp from pter      End:
54,385,075 bp from pter
Size:
165,820 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WNK3_HUMAN, Q9BYP7 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase WNK3  
Size: 1800 amino acids; 198416 Da
Cofactor: Magnesium (By similarity)
Subunit: Interacts with WNK1 and WNK4
Caution: Cys-176 is present instead of the conserved Lys which is expected to be an active site residue. Lys-159
appears to fulfill the required catalytic function
Secondary accessions: B1AKG2 Q5JRC1 Q6JP76 Q8TCX6 Q9HCK6
Alternative splicing: 4 isoforms:  Q9BYP7-1   Q9BYP7-2   Q9BYP7-3   Q9BYP7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WNK3: NX_Q9BYP7

Explore proteomics data for WNK3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for WNK3 (Q9BYP7) (see all 17)
     EYPYSEC  YDESVDV  PPIIHRD  DLLNHAFF 


    See WNK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001002838.1  NP_065973.2  

    ENSEMBL proteins: 
     ENSP00000364312   ENSP00000364301   ENSP00000401816   ENSP00000346667  
    Reactome Protein details: Q9BYP7

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: WNK lysine deficient protein kinase 3
    Wnk family

    5 InterPro protein domains:
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom
     IPR024678 Kinase_OSR1/WNK_CCT

    Graphical View of Domain Structure for InterPro Entry Q9BYP7

    ProtoNet protein and cluster: Q9BYP7

    UniProtKB/Swiss-Prot: WNK3_HUMAN, Q9BYP7
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily
    Similarity: Contains 1 protein kinase domain


    WNK3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WNK3_HUMAN, Q9BYP7
    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. Phosphorylates WNK4. Regulates the
    phosphorylation of SLC12A1 and SLC12A2. Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their
    membrane expression level via a kinase-dependent pathway. Inhibits the activity of KCNJ1 by decreasing its
    expression at the cell membrane in a non-catalytic manner
    Function: Isoform 1, isoform 2, isoform 3 and isoform 4 stimulate the activity of SLC12A1, SLC12A2 and SLC12A3 and
    inhibit the activity of SLC12A4, SLC12A5, SLC12A6 and SLC12A7. According to PubMed:19470686, isoform 1 inhibits
    the activity of SLC12A3
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activation requires autophosphorylation of Ser-308. Phosphorylation of Ser-304 also promotes
    increased activity (By similarity). Kinase activity is inhibited by WNK4

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IDA16275913
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI16501604
    GO:0005524ATP binding ISS--
         
    WNK3 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for WNK3:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Lamellipodia cells  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Wnk3):
     cardiovascular system  homeostasis/metabolism  normal  renal/urinary system 

    WNK3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Wnk3tm1.1Esoh for WNK3

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    miRNA
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    miRTarBase miRNAs that target WNK3:
    hsa-mir-204-5p (MIRT047011), hsa-mir-125a-5p (MIRT045734), hsa-mir-21-5p (MIRT031069)

    Block miRNA regulation of human, mouse, rat WNK3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WNK3 (see all 135):
    hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-1243 hsa-miR-200b hsa-miR-130b hsa-miR-509-3-5p hsa-miR-130a*
    SwitchGear 3'UTR luciferase reporter plasmidWNK3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat WNK3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WNK3_HUMAN, Q9BYP7: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA16501604
    GO:0005912adherens junction ISS--
    GO:0005923tight junction ISS--

    WNK3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for WNK3 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Diuretics Pathway, Pharmacodynamics
    Diuretics Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for WNK3
        Stimuli-sensing channels

    1 PharmGKB Pathway for WNK3
        Diuretics Pathway, Pharmacodynamics


    WNK3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WNK3
    Interactions:

        Search GeneGlobe Interaction Network for WNK3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for WNK3 (Q9BYP71, 3 ENSP000003466674) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP3P425741, 3, ENSP000003110324EBI-1182602,EBI-524064 I2D: score=1 STRING: ENSP00000311032
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0010765positive regulation of sodium ion transport IDA16275913
    GO:0010800positive regulation of peptidyl-threonine phosphorylation IDA16275913
    GO:0032414positive regulation of ion transmembrane transporter activity IDA16275913
    GO:0035556intracellular signal transduction ISS--

    WNK3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WNK3

    3 HMDB Compounds for WNK3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for WNK3 gene (2 alternative transcripts): 
    NM_001002838.3  NM_020922.4  

    Unigene Cluster for WNK3:

    WNK lysine deficient protein kinase 3
    Hs.92423  [show with all ESTs]
    Unigene Representative Sequence: NM_020922
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375169(uc004dtd.2) ENST00000375159 ENST00000458404 ENST00000354646(uc004dtc.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WNK3 (see all 135):
    hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-1243 hsa-miR-200b hsa-miR-130b hsa-miR-509-3-5p hsa-miR-130a*
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    Additional mRNA sequence: 

    AB046786.1 AJ409088.2 AK054999.1 AK124653.1 AY082340.1 AY352048.1 

    2 DOTS entries:

    DT.209855  DT.208569 

    Selected AceView cDNA sequences (see all 30):

    AI341748 NM_020922 AI190890 CD644002 AA399218 Z44479 AV654913 AY082340 
    AJ409088 AW592419 NM_001002838 AY352048 AB046786 AA412230 AI004108 AW172290 
    M78294 BX282619 AV745759 AV745332 AV746356 R41152 T10114 R41053 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for WNK3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                    -                       -               

    ExUns: 24b
    SP1:      
    SP2:      


    ECgene alternative splicing isoforms for WNK3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WNK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTTGCCAG
    WNK3 Expression
    About this image


    WNK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Testis (Reproductive System)
    WNK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WNK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.92423

    UniProtKB/Swiss-Prot: WNK3_HUMAN, Q9BYP7
    Tissue specificity: Expressed in brain, lung, kidney, liver and pancreas, and in fetal tissues including placenta,
    fetal brain, lung and kidney. Very low levels of expression were also detected in fetal heart, thymus, liver and
    spleen. Isoform 1 is brain-specific. Isoform 3 is kidney-specific

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for WNK3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wnk31 , 5 WNK lysine deficient protein kinase 3, pseudogene5
    WNK lysine deficient protein kinase 31
    86.45(n)1
    81.55(a)1
      X (68.46 cM)5
    2795611  NM_001271678.11  NP_001258607.11 
     1511980785 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    85(a)
    39(a)
    1 ↔ many
    1 ↔ many
    1(205373643-205435164)
    1(205439218-205490633)
    zebrafish
    (Danio rerio)
    Actinopterygii WNK36
    WNK lysine deficient protein kinase 3
    42(a)
    1 ↔ 1
    23(25460021-25510012) ENSDARG00000021611
    fruit fly
    (Drosophila melanogaster)
    Insecta Wnk6
    --
    18(a)
    1 → many
    3L(21536950-21548028)
    worm
    (Caenorhabditis elegans)
    Secernentea wnk-16
    Protein WNK-1, isoform l (wnk-1) mRNA, complete cd...
    23(a)
    1 → many
    IV(9200116-9212232) WBGene00006941
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.113182 Vitis vinifera transcribed sequence with moderate similarity more 71.91(n)    CB914273.1 
    rice
    (Oryza sativa)
    Liliopsida Os.181832 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.16(n)    AK073845.1 


    ENSEMBL Gene Tree for WNK3 (if available)
    TreeFam Gene Tree for WNK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WNK3 gene
    WNK12  WNK42  WNK22  NRBP12  NRBP22  
    5 SIMAP similar genes for WNK3 using alignment to 2 protein entries:     WNK3_HUMAN (see all proteins):
    WNK2    CDK4    MST094    STK17A    WNK4

    WNK3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WNK3 (see all 1730)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0413284
    A lung large cell carcinoma sample4--see VAR_0413282 L F mis40--------
    VAR_0413294
    A renal clear cell carcinoma sample4--see VAR_0413292 S P mis40--------
    VAR_0413244
    A lung squamous cell carcinoma sample4--see VAR_0413242 S C mis40--------
    rs1425101651,2
    C--54233247(+) AATGTA/GTCTGA 2 -- ds50010--------
    rs1899037781,2
    --54233412(+) GCATTG/TTAAGT 2 -- ds50010--------
    rs1471282031,2
    --54233423(+) GGAAAC/TAGTAA 2 -- ds50010--------
    rs1825321201,2
    --54233514(+) TGAGAC/GCAACT 2 -- ds50010--------
    rs1404122691,2
    --54233546(+) CAAGCA/GTGAAA 2 -- ds50010--------
    rs1112690181,2
    C,F--54233716(+) CTATGA/GCAGCA 2 -- ut311Minor allele frequency- G:0.00CSA 1
    rs1846766121,2
    --54233748(+) ATTTAA/TCACAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for WNK3 (54219256 - 54385075 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for WNK3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297

    Human Gene Mutation Database (HGMD): WNK3
    Locus Specific Mutation Databases (LSDB): WNK3

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300358    OMIM disorders: --

    6 diseases for WNK3:    
    About MalaCards
    pseudohypoaldosteronism type ii    pseudohypoaldosteronism    hypertension    schizophrenia
    neuronitis    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for WNK3:
    Pseudohypoaldosteronism

    WNK3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): WNK3
    Human Genome Epidemiology (HuGE) Navigator: WNK3 (4 documents)

    Export disorders for WNK3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for WNK3 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with WNK3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Renal and brain isoforms of WNK3 have opposite effects on NCCT expression. (PubMed id 19470686)1, 2, 9 Glover M.... O'Shaughnessy K.M. (J. Am. Soc. Nephrol. 2009)
    2. WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation- Cl- cotransporters required for normal blood pressure homeostasis. (PubMed id 16275913)1, 2, 9 Rinehart J.... Lifton R.P. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    3. Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3). (PubMed id 15194194)1, 2, 9 Holden S.... Raymond F.L. (Gene 2004)
    4. Protein kinase WNK3 increases cell survival in a caspase-3-dependent pathway. (PubMed id 16501604)1, 2, 9 Verissimo F.... Jordan P. (Oncogene 2006)
    5. Autism-associated familial microdeletion of Xp11.22. (PubMed id 18498374)1, 4, 9 Qiao Y....Lewis M.E. (Clin. Genet. 2008)
    6. Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606)1, 2 Cruz-Rangel S.... Mercado A. (Am. J. Physiol. 2011)
    7. Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members. (PubMed id 20525693)1, 2 Heise C.J....Cobb M.H. (J. Biol. Chem. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. WNK3 positively regulates epithelial calcium channels TRPV5 and TRPV6 via a kinase-dependent pathway. (PubMed id 18768590)1, 2 Zhang W.... Peng J.B. (Am. J. Physiol. 2008)
    10. The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complex. (PubMed id 17975670)1, 2 Yang C.L.... Ellison D.H. (J. Clin. Invest. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65267 HGNC: 14543 AceView: PRKWNK3 Ensembl:ENSG00000196632 euGenes: HUgn65267
    ECgene: WNK3 H-InvDB: WNK3

    (According to HUGE)
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    HUGE: KIAA1566

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for WNK3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WNK3 gene:
    Search GeneIP for patents involving WNK3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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