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Wnk1 Gene Detail
Summary
  • Symbol
    Wnk1
  • Name
    WNK lysine deficient protein kinase 1
  • Synonyms
    6430573H23Rik, EG406236, Hsn2, Prkwnk1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442092
    NCBI Gene: 232341
Location & Maps
more
  • Sequence Map
    Chr6:119923969-120038672 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      114704 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    WNK1, WNK lysine deficient protein kinase 1
  • Vertebrate Orthologs
    5
  • Human Ortholog
    WNK1, WNK lysine deficient protein kinase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HSAN2, HSN2, KDP, p65, PPP1R167, PRKWNK1, PSK
  • Links
    NCBI Gene ID: 65125
    neXtProt AC: NX_Q9H4A3

  • Chr Location
    12p13.3; chr12:752593-911452 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Wnk1 mouse models; 2 with human WNK1 associations

Human Disease Mouse Models
       Pseudohypoaldosteronism, Type IIC; PHA2C   OMIM: 614492 View 1 model
       Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A   OMIM: 201300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    50 phenotypes from 6 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031633 VEGA Gene Model | MGI Sequence Detail 114704 C57BL/6J ±  kb
transcript OTTMUST00000078356 VEGA | MGI Sequence Detail 10575 Not Applicable  
polypeptide OTTMUSP00000041662 VEGA | MGI Sequence Detail 2377 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    254 from dbSNP Build 137
Protein
Information
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  • UniProt
    17 Sequences
  • Protein Ontology
    PR:000017431 serine/threonine-protein kinase WNK1
  • EC
  • InterPro Domains
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
    IPR024678 Serine/threonine-protein kinase OSR1/WNK, CCT domain
Molecular
Reagents
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  • All nucleic 310
    cDNA 309
    Primer pair 1

    Microarray probesets 8
Other
Accession IDs
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MGI:3644010
References
more
  • Summaries
    All 52
    Developmental Gene Expression 11
    Diseases 1
    Gene Ontology 8
    Phenotypes 12
  • Earliest
    J:114792 Wilson FH, et al., Human hypertension caused by mutations in WNK kinases. Science. 2001 Aug 10;293(5532):1107-12
  • Latest
    J:214330 Susa K, et al., Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice. Hum Mol Genet. 2014 Oct 1;23(19):5052-60

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory