U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    WNK4 WNK lysine deficient protein kinase 4 [ Homo sapiens (human) ]

    Gene ID: 65266, updated on 5-May-2024

    Summary

    Official Symbol
    WNK4provided by HGNC
    Official Full Name
    WNK lysine deficient protein kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:14544
    See related
    Ensembl:ENSG00000126562 MIM:601844; AllianceGenome:HGNC:14544
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHA2B; PRKWNK4
    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 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]
    Expression
    Biased expression in kidney (RPKM 12.8), prostate (RPKM 5.7) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WNK4 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42780610..42797066)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43637750..43654206)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40932628..40949084)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAMP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8547 Neighboring gene receptor activity modifying protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12222 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40925642-40926189 Neighboring gene Sharpr-MPRA regulatory region 12532 Neighboring gene vacuolar protein sorting 25 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40932701-40933658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:40934948-40936147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12225 Neighboring gene cytochrome c oxidase assembly factor 3 Neighboring gene cyclin N-terminal domain containing 1 Neighboring gene beclin 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ion channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aldosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in distal tubule morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular chloride ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of pancreatic juice secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein kinase C signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of potassium ion export across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium ion absorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in renal sodium ion absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in renal sodium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in bicellular tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serine/threonine-protein kinase WNK4
    Names
    protein kinase lysine-deficient 4
    protein kinase with no lysine 4
    NP_001308228.1
    NP_115763.2
    XP_016880451.1
    XP_016880455.1
    XP_047292510.1
    XP_047292512.1
    XP_047292513.1
    XP_047292514.1
    XP_047292515.1
    XP_047292516.1
    XP_047292517.1
    XP_047292518.1
    XP_047292519.1
    XP_054172926.1
    XP_054172927.1
    XP_054172928.1
    XP_054172929.1
    XP_054172930.1
    XP_054172931.1
    XP_054172932.1
    XP_054172933.1
    XP_054172934.1
    XP_054172935.1
    XP_054172936.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016227.1 RefSeqGene

      Range
      4980..21436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321299.2NP_001308228.1  serine/threonine-protein kinase WNK4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC100793, BC144356, BM683764, CA388932
      Conserved Domains (1) summary
      pfam12202
      Location:117153
      OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
    2. NM_032387.5NP_115763.2  serine/threonine-protein kinase WNK4 isoform 1

      See identical proteins and their annotated locations for NP_115763.2

      Status: REVIEWED

      Source sequence(s)
      AC100793, BC136664, BM683764, CA388932
      Consensus CDS
      CCDS11439.1
      UniProtKB/Swiss-Prot
      B0LPI0, Q8N8X3, Q8N8Z2, Q96DT8, Q96J92, Q9BYS5
      Related
      ENSP00000246914.4, ENST00000246914.10
      Conserved Domains (3) summary
      smart00220
      Location:179432
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14033
      Location:172432
      STKc_WNK4; Catalytic domain of the Serine/Threonine protein kinase, With No Lysine (WNK) 4
      pfam12202
      Location:453489
      OSR1_C; Oxidative-stress-responsive kinase 1 C terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      42780610..42797066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024962.2XP_016880451.1  serine/threonine-protein kinase WNK4 isoform X1

    2. XM_047436559.1XP_047292515.1  serine/threonine-protein kinase WNK4 isoform X6

    3. XM_047436554.1XP_047292510.1  serine/threonine-protein kinase WNK4 isoform X2

    4. XM_047436558.1XP_047292514.1  serine/threonine-protein kinase WNK4 isoform X5

    5. XM_047436560.1XP_047292516.1  serine/threonine-protein kinase WNK4 isoform X7

    6. XM_047436556.1XP_047292512.1  serine/threonine-protein kinase WNK4 isoform X3

    7. XM_047436561.1XP_047292517.1  serine/threonine-protein kinase WNK4 isoform X8

    8. XM_047436563.1XP_047292519.1  serine/threonine-protein kinase WNK4 isoform X10

    9. XM_047436557.1XP_047292513.1  serine/threonine-protein kinase WNK4 isoform X4

    10. XM_047436562.1XP_047292518.1  serine/threonine-protein kinase WNK4 isoform X9

    11. XM_017024966.2XP_016880455.1  serine/threonine-protein kinase WNK4 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      43637750..43654206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316951.1XP_054172926.1  serine/threonine-protein kinase WNK4 isoform X1

    2. XM_054316956.1XP_054172931.1  serine/threonine-protein kinase WNK4 isoform X6

    3. XM_054316952.1XP_054172927.1  serine/threonine-protein kinase WNK4 isoform X2

    4. XM_054316955.1XP_054172930.1  serine/threonine-protein kinase WNK4 isoform X5

    5. XM_054316957.1XP_054172932.1  serine/threonine-protein kinase WNK4 isoform X7

    6. XM_054316953.1XP_054172928.1  serine/threonine-protein kinase WNK4 isoform X3

    7. XM_054316958.1XP_054172933.1  serine/threonine-protein kinase WNK4 isoform X8

    8. XM_054316960.1XP_054172935.1  serine/threonine-protein kinase WNK4 isoform X10

    9. XM_054316954.1XP_054172929.1  serine/threonine-protein kinase WNK4 isoform X4

    10. XM_054316959.1XP_054172934.1  serine/threonine-protein kinase WNK4 isoform X9

    11. XM_054316961.1XP_054172936.1  serine/threonine-protein kinase WNK4 isoform X11