About: WNK4

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Serine/threonine protein kinase WNK4 also known as WNK lysine deficient protein kinase 4 or WNK4, is an enzyme that in humans is encoded by the WNK4 gene. Missense mutations cause a genetic form of pseudohypoaldosteronism type 2, also called Gordon syndrome.

Attributes	Values
rdf:type	Thing Biomolecule gene Biomolecule Gene HumanGene protein
rdfs:label	WNK4 (en) WNK4 (uk)
rdfs:comment	Serine/threonine protein kinase WNK4 also known as WNK lysine deficient protein kinase 4 or WNK4, is an enzyme that in humans is encoded by the WNK4 gene. Missense mutations cause a genetic form of pseudohypoaldosteronism type 2, also called Gordon syndrome. (en) WNK4 (англ. WNK lysine deficient protein kinase 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 243 амінокислот, а молекулярна маса — 134 739. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин (uk)
foaf:depiction
dcterms:subject	EC 2.7.11
Wikipage page ID	14875722 (xsd:integer)
Wikipage revision ID	1109715147 (xsd:integer)
Link from a Wikipage to another Wikipage	Electroneutral cation-Cl Epithelial sodium channel Plasma membrane ROMK Beta barrel Blood pressure Homeostasis Hyperkalemia Hypertension Beta sheet Ubiquitin ligase CAB39 In vitro Sequence alignment Protein phosphorylation EC 2.7.11 Open reading frame Nephron Protein tertiary structure WNK1 Enzyme Gene Gordon syndrome TRPV4 Calmodulin binding domain Pseudohypoaldosteronism Phospholipase C Autosomal dominant Distal convoluted tubule Adenosine triphosphate dbr:Aldosterone Alpha helix E. coli Angiotensin Angiotensin II receptor Gq alpha subunit Kelch-like protein 3 Kinase Protein domain Hyperactivation Kidney Coiled coil Collecting duct system Missense mutation C-terminus Metabolic acidosis CUL3 Na-K-Cl cotransporter SGK1 Molecular modification Protein kinase domain TRPV5 Amino terminus Serine-threonine kinase Sodium chloride cotransporter
Link from a Wikipage to an external page	https://www.uniprot.org/uniprot/Q96J92 https://www.genecards.org/cgi-bin/carddisp.pl%3Fgene=WNK4 https://www.omim.org/entry/601844 https://www.proteinatlas.org/ENSG00000126562-WNK4
sameAs	WNK4 WNK4 WNK4 WNK4
dbp:wikiPageUsesTemplate	dbt:Clear dbt:Enzymes dbt:Infobox_gene dbt:Portal_bar dbt:Reflist dbt:Serine/threonine-specific_protein_kinases
thumbnail	wiki-commons:Special:FilePath/Figure_1._Domain_structure_of_WNK4_and_the_positions_of_the_initially_identified_PHAII-causing_mutations._.jpg?width=300
has abstract	Serine/threonine protein kinase WNK4 also known as WNK lysine deficient protein kinase 4 or WNK4, is an enzyme that in humans is encoded by the WNK4 gene. Missense mutations cause a genetic form of pseudohypoaldosteronism type 2, also called Gordon syndrome. WNK4 is a member of a serine/threonine kinase family that comprises four members. The family is so named because unlike other serine/threonine kinases, WNKs are characterized by the lack of the lysine in the subdomain II of the catalytic domain. Instead, a lysine in the β2 strand of subdomain I of the catalytic domain is responsible for the kinase activity. The WNK4 gene is located on chromosome 17q21-q22. It produces a 1,243-amino acid protein encoded by a 3,732-nucleotide open reading frame within a 4 kb cDNA transcript. WNK4 protein is highly expressed in the distal convoluted tubule (DCT) and the cortical collecting duct (CDD) of the kidney. WNK4 is also present in the brain, lungs, liver, heart, and colon of various mammalian species. Gene mutations in WNK4 has been found in patients with pseudohypoaldosteronism type II (PHAII), also known as familial hyperkalemic hypertension (FHHt) or Gordon syndrome. PHAII is an autosomal dominant hereditary disease characterized by hyperkalemia, hypertension, and metabolic acidosis. WNK4 plays a critical role in the regulation of various transporters and channels in the kidney. PHAII-causing mutations in WNK4 result in the dysregulation of renal sodium and potassium transporters and channels, leading to defects in sodium and potassium retention by the kidney, and in turn, elevated blood pressure and potassium level (hyperkalemia). (en) WNK4 (англ. WNK lysine deficient protein kinase 4) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 243 амінокислот, а молекулярна маса — 134 739. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функціями належить до трансфераз, кіназ, серин/треонінових протеїнкіназ, фосфопротеїнів. Задіяний у такому біологічному процесі, як альтернативний сплайсинг. Білок має сайт для зв'язування з АТФ, нуклеотидами. Локалізований у клітинних контактах, щільних контактах. (uk)
gold:hypernym	Enzyme
prov:wasDerivedFrom	wikipedia-en:WNK4?oldid=1109715147&ns=0
page length (characters) of wiki page	29802 (xsd:nonNegativeInteger)
foaf:isPrimaryTopicOf	wikipedia-en:WNK4
is Link from a Wikipage to another Wikipage of	List of human protein-coding genes 4 WNK1

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