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

Gene ID: 65266, updated on 16-Jul-2017
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; Vega:OTTHUMG00000180650
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]
Orthologs
Location:
17q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (42779701..42797066)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40932632..40949084)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RAMP2 antisense RNA 1 Neighboring gene receptor activity modifying protein 2 Neighboring gene vacuolar protein sorting 25 homolog Neighboring gene cytochrome c oxidase assembly factor 3 Neighboring gene cyclin N-terminal domain containing 1 Neighboring gene beclin 1 Neighboring gene microRNA 6781

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chloride channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
chloride transport IEA
Inferred from Electronic Annotation
more info
 
distal tubule morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of pancreatic juice secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sodium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cellular process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of molecular function IEA
Inferred from Electronic Annotation
more info
 
renal sodium ion absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
bicellular tight junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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_011523437.1
XP_016880451.1
XP_016880452.1
XP_016880453.1
XP_016880454.1
XP_016880455.1

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
    5001..21436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    BC144356, BM683764, CA388932
    Conserved Domains (1) summary
    pfam12202
    Location:117153
    OSR1_C; Oxidative-stress-responsive kinase 1 C terminal
  2. NM_032387.4NP_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)
    BC136664, BM683764, CA388932
    Consensus CDS
    CCDS11439.1
    UniProtKB/Swiss-Prot
    Q96J92
    Related
    ENSP00000246914.4, OTTHUMP00000264871, ENST00000246914.9, OTTHUMT00000452389
    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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

    Range
    42779701..42797066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017024963.1XP_016880452.1  serine/threonine-protein kinase WNK4 isoform X2

  3. XM_017024964.1XP_016880453.1  serine/threonine-protein kinase WNK4 isoform X3

  4. XM_017024965.1XP_016880454.1  serine/threonine-protein kinase WNK4 isoform X4

  5. XM_011525135.2XP_011523437.1  serine/threonine-protein kinase WNK4 isoform X5

    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
  6. XM_017024966.1XP_016880455.1  serine/threonine-protein kinase WNK4 isoform X6

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    41168235..41184670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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