• Gene id: 65266

Gene Summary

• Gene Symbol: WNK4   Gene   UCSC   Ensembl
• Aliases: PHA2B, PRKWNK4
• Gene name: WNK lysine deficient protein kinase 4
• Alternate names: serine/threonine-protein kinase WNK4, protein kinase lysine-deficient 4, protein kinase with no lysine 4,
• Gene location: 17q21.2 (42779700: 42797065)     Exons: 18     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 601844

Protein Summary

• Protein general information: Q96J92  
  • Name: Serine/threonine protein kinase WNK4 (EC 2.7.11.1) (Protein kinase lysine deficient 4) (Protein kinase with no lysine 4)
  • Length: 1243  
  • Mass: 134739
  • Tissue specificity: Expressed in kidney, colon and skin. {ECO
• Sequence:

  MLASPATETTVLMSQTEADLALRPPPPLGTAGQPRLGPPPRRARRFSGKAEPRPRSSRLSRRSSVDLGLLSSWSL
  PASPAPDPPDPPDSAGPGPARSPPPSSKEPPEGTWTEGAPVKAAEDSARPELPDSAVGPGSREPLRVPEAVALER
  RREQEEKEDMETQAVATSPDGRYLKFDIEIGRGSFKTVYRGLDTDTTVEVAWCELQTRKLSRAERQRFSEEVEML
  KGLQHPNIVRFYDSWKSVLRGQVCIVLVTELMTSGTLKTYLRRFREMKPRVLQRWSRQILRGLHFLHSRVPPILH
  RDLKCDNVFITGPTGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYDEAVDVYAFGMCMLEMATSEYPY
  SECQNAAQIYRKVTSGRKPNSFHKVKIPEVKEIIEGCIRTDKNERFTIQDLLAHAFFREERGVHVELAEEDDGEK
  PGLKLWLRMEDARRGGRPRDNQAIEFLFQLGRDAAEEVAQEMVALGLVCEADYQPVARAVRERVAAIQRKREKLR
  KARELEALPPEPGPPPATVPMAPGPPSVFPPEPEEPEADQHQPFLFRHASYSSTTSDCETDGYLSSSGFLDASDP
  ALQPPGGVPSSLAESHLCLPSAFALSIPRSGPGSDFSPGDSYASDAASGLSDVGEGMGQMRRPPGRNLRRRPRSR
  LRVTSVSDQNDRVVECQLQTHNSKMVTFRFDLDGDSPEEIAAAMVYNEFILPSERDGFLRRIREIIQRVETLLKR
  DTGPMEAAEDTLSPQEEPAPLPALPVPLPDPSNEELQSSTSLEHRSWTAFSTSSSSPGTPLSPGNPFSPGTPISP
  GPIFPITSPPCHPSPSPFSPISSQVSSNPSPHPTSSPLPFSSSTPEFPVPLSQCPWSSLPTTSPPTFSPTCSQVT
  LSSPFFPPCPSTSSFPSTTAAPLLSLASAFSLAVMTVAQSLLSPSPGLLSQSPPAPPSPLPSLPLPPPVAPGGQE
  SPSPHTAEVESEASPPPARPLPGEARLAPISEEGKPQLVGRFQVTSSKEPAEPLPLQPTSPTLSGSPKPSTPQLT
  SESSDTEDSAGGGPETREALAESDRAAEGLGAGVEEEGDDGKEPQVGGSPQPLSHPSPVWMNYSYSSLCLSSEES
  ESSGEDEEFWAELQSLRQKHLSEVETLQTLQKKEIEDLYSRLGKQPPPGIVAPAAMLSSRQRRLSKGSFPTSRRN
  SLQRSEPPGPGIMRRNSLSGSSTGSQEQRASKGVTFAGDVGRM

• Structural information:
  • Protein Domains: (174..43-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR024678  IPR000719  IPR008271  
  • Prosite: PS50011 PS00108
  • PDB: 2V3S 4CH9 4CHB
  • PDBsum: 2V3S 4CH9 4CHB
  • STRING: ENSP00000246914
• Other Databases: GeneCards:  WNK4  Malacards:  WNK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0032414	positive regulation of ion transmembrane transporter activity	IBA	biological process
GO:2000651	positive regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0010766	negative regulation of sodium ion transport	IBA	biological process
GO:0019869	chloride channel inhibitor activity	IBA	molecular function
GO:0019870	potassium channel inhibitor activity	IBA	molecular function
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0050801	ion homeostasis	IBA	biological process
GO:0070294	renal sodium ion absorption	IBA	biological process
GO:1903288	positive regulation of potassium ion import across plasma membrane	IBA	biological process
GO:0072156	distal tubule morphogenesis	IMP	biological process
GO:0072156	distal tubule morphogenesis	IMP	biological process
GO:0010766	negative regulation of sodium ion transport	ISS	biological process
GO:0070294	renal sodium ion absorption	IMP	biological process
GO:0070294	renal sodium ion absorption	IMP	biological process
GO:0050801	ion homeostasis	IMP	biological process
GO:0050801	ion homeostasis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0010766	negative regulation of sodium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0090188	negative regulation of pancreatic juice secretion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0050794	regulation of cellular process	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0019869	chloride channel inhibitor activity	IDA	molecular function
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0006811	ion transport	ISS	biological process
GO:0006468	protein phosphorylation	ISS	biological process
GO:0004674	protein serine/threonine kinase activity	ISS	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0050794	regulation of cellular process	ISS	biological process
GO:0005923	bicellular tight junction	ISS	cellular component

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
Renal tubular acidosis	KEGG:H02310
Hyperkalemic distal renal tubular acidosis	KEGG:H00243
Hypertension	PMID:15110905
Pseudohypoaldosteronism	PMID:11498583
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq