ENSG00000126562


Homo sapiens

Features
Gene ID: ENSG00000126562
  
Biological name :WNK4
  
Synonyms : Q96J92 / WNK4 / WNK lysine deficient protein kinase 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.2
Gene start: 42780678
Gene end: 42796936
  
Corresponding Affymetrix probe sets: 229158_at (Human Genome U133 Plus 2.0 Array)   244344_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000246914
Ensembl peptide - ENSP00000467088
Ensembl peptide - ENSP00000467312
NCBI entrez gene - 65266     See in Manteia.
OMIM - 601844
RefSeq - XM_017024966
RefSeq - XM_011525135
RefSeq - XM_017024962
RefSeq - XM_017024963
RefSeq - XM_017024964
RefSeq - XM_017024965
RefSeq - NM_001321299
RefSeq - NM_032387
RefSeq Peptide - NP_001308228
RefSeq Peptide - NP_115763
swissprot - K7EPB3
swissprot - Q96J92
swissprot - K7ENT7
Ensembl - ENSG00000126562
  
Related genetic diseases (OMIM): 614491 - Pseudohypoaldosteronism, type IIB, 614491
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 wnk4bENSDARG00000088967Danio rerio
 WNK4ENSGALG00000032191Gallus gallus
 Wnk4ENSMUSG00000035112Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
WNK1 / Q9H4A3 / WNK lysine deficient protein kinase 1ENSG0000006023743
WNK2 / Q9Y3S1 / WNK lysine deficient protein kinase 2ENSG0000016523841
WNK3 / Q9BYP7 / WNK lysine deficient protein kinase 3ENSG0000019663240
NRBP1 / Q9UHY1 / nuclear receptor binding protein 1ENSG0000011521611
NRBP2 / Q9NSY0 / nuclear receptor binding protein 2ENSG0000018518910


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR024678  Serine/threonine-protein kinase OSR1/WNK, CCT domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0008104 protein localization IEA
 biological_processGO:0010766 negative regulation of sodium ion transport IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0035556 intracellular signal transduction ISS
 biological_processGO:0050794 regulation of cellular process IEA
 biological_processGO:0050801 ion homeostasis IMP
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0070294 renal sodium ion absorption IMP
 biological_processGO:0072156 distal tubule morphogenesis IMP
 biological_processGO:0090188 negative regulation of pancreatic juice secretion IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005923 bicellular tight junction ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019869 chloride channel inhibitor activity IDA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0002153 Hyperkalemia 
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 HP:0004918 hyperchloremic metabolic acidosis 
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 HP:0008242 Pseudohypoaldosteronism 
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 HP:0011423 Hyperchloremia "An abnormally increased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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