Gene Gene information from NCBI Gene database.
Entrez ID 65125
Gene name WNK lysine deficient protein kinase 1
Gene symbol WNK1
Synonyms (NCBI Gene)
HSAN2HSN2KDPPPP1R167PRKWNK1PSKp65
Chromosome 12
Chromosome location 12p13.33
Summary This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with ps
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs72648621 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Genic upstream transcript variant, synonymous variant, coding sequence variant
rs72649848 C>T Conflicting-interpretations-of-pathogenicity Missense variant, intron variant, coding sequence variant
rs72650720 G>A Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs72650740 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs111033590 C>T Pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
904
miRTarBase ID miRNA Experiments Reference
MIRT005582 hsa-miR-192-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20813867
MIRT005583 hsa-miR-215-5p Luciferase reporter assayNorthern blotqRT-PCRWestern blot 20813867
MIRT030974 hsa-miR-21-5p Microarray 18591254
MIRT052359 hsa-let-7b-5p CLASH 23622248
MIRT048089 hsa-miR-197-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002028 Process Regulation of sodium ion transport ISS
GO:0003084 Process Positive regulation of systemic arterial blood pressure IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity IMP 16669787
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605232 14540 ENSG00000060237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H4A3
Protein name Serine/threonine-protein kinase WNK1 (EC 2.7.11.1) (Erythrocyte 65 kDa protein) (p65) (Kinase deficient protein) (Protein kinase lysine-deficient 1) (Protein kinase with no lysine 1) (hWNK1)
Protein function Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx (PubMed:15883153, PubMed:17190791, PubMed:31656913, PubMed:342
PDB 4PWN , 5TF9 , 5WDY , 5WE8 , 6FBK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 221 479 Protein kinase domain Domain
PF12202 OSR1_C 500 563 Oxidative-stress-responsive kinase 1 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. {ECO:0000269|PubMed:10660600, ECO:0000269|PubMed:11571656, ECO:0000269|PubMed:22701532}.; TISSUE SPECIFICITY: [Isoform 1]: Strong expressi
Sequence
MSGGAAEKQSSTPGSLFLSPPAPAPKNGSSSDSSVGEKLGAAAADAVTGRTEEYRRRRHT
MDKDSRGAAATTTTTEHRFFRRSVICDSNATALELPGLPLSLPQPSIPAAVPQSAPPEPH
REETVTATATSQVAQQPPAAAAPGEQAVAGPAPSTVPSSTSKDRPVSQPSLVGSKEEPPP
ARSGSGGGSAKEPQEERSQQQDDIEELETKAVGMSNDGRFLKFDIEIGRGSFKTVYKGLD
TETTVEVAWCELQDRKLTKSERQRFKEEAEMLKGLQHPNIVRFYDSWESTVKGKKCIVLV
TELMTSGTLKTYLKRFKVMKIKVLRSWCRQILKGLQFLHTRTPPIIHRDLKCDNIFITGP
TGSVKIGDLGLATLKRASFAKSVIGTPEFMAPEMYEEKYDESVDVYAFGMCMLEMATSEY
PYSECQNAAQIYRRVTSGVKPASFDKVAIPEVKEIIEGCIRQNKDERYSIKDLLNHAFF
Q
EETGVRVELAEEDDGEKIAIKLWLRIEDIKKLKGKYKDNEAIEFSFDLERDVPEDVAQEM
VESGYVCEGDHKTMAKAIKDRVS
LIKRKREQRQLVREEQEKKKQEESSLKQQVEQSSASQ
TGIKQLPSASTGIPTASTTSASVSTQVEPEEPEADQHQQLQYQQPSISVLSDGTVDSGQG
SSVFTESRVSSQQTVSYGSQHEQAHSTGTVPGHIPSTVQAQSQPHGVYPPSSVAQGQSQG
QPSSSSLTGVSSSQPIQHPQQQQGIQQTAPPQQTVQYSLSQTSTSSEATTAQPVSQPQAP
QVLPQVSAGKQLPVSQPVPTIQGEPQIPVATQPSVVPVHSGAHFLPVGQPLPTPLLPQYP
VSQIPISTPHVSTAQTGFSSLPITMAAGITQPLLTLASSATTAAIPGVSTVVPSQLPTLL
QPVTQLPSQVHPQLLQPAVQSMGIPANLGQAAEVPLSSGDVLYQGFPPRLPPQYPGDSNI
APSSNVASVCIHSTVLSPPMPTEVLATPGYFPTVVQPYVESNLLVPMGGVGGQVQVSQPG
GSLAQAPTTSSQQAVLESTQGVSQVAPAEPVAVAQTQATQPTTLASSVDSAHSDVASGMS
DGNENVPSSSGRHEGRTTKRHYRKSVRSRSRHEKTSRPKLRILNVSNKGDRVVECQLETH
NRKMVTFKFDLDGDNPEEIATIMVNNDFILAIERESFVDQVREIIEKADEMLSEDVSVEP
EGDQGLESLQGKDDYGFSGSQKLEGEFKQPIPASSMPQQIGIPTSSLTQVVHSAGRRFIV
SPVPESRLRESKVFPSEITDTVAASTAQSPGMNLSHSASSLSLQQAFSELRRAQMTEGPN
TAPPNFSHTGPTFPVVPPFLSSIAGVPTTAAATAPVPATSSPPNDISTSVIQSEVTVPTE
EGIAGVATSTGVVTSGGLPIPPVSESPVLSSVVSSITIPAVVSISTTSPSLQVPTSTSEI
VVSSTALYPSVTVSATSASAGGSTATPGPKPPAVVSQQAAGSTTVGATLTSVSTTTSFPS
TASQLCIQLSSSTSTPTLAETVVVSAHSLDKTSHSSTTGLAFSLSAPSSSSSPGAGVSSY
ISQPGGLHPLVIPSVIASTPILPQAAGPTSTPLLPQVPSIPPLVQPVANVPAVQQTLIHS
QPQPALLPNQPHTHCPEVDSDTQPKAPGIDDIKTLEEKLRSLFSEHSSSGAQHASVSLET
SLVIESTVTPGIPTTAVAPSKLLTSTTSTCLPPTNLPLGTVALPVTPVVTPGQVSTPVST
TTSGVKPGTAPSKPPLTKAPVLPVGTELPAGTLPSEQLPPFPGPSLTQSQQPLEDLDAQL
RRTLSPEMITVTSAVGPVSMAAPTAITEAGTQPQKGVSQVKEGPVLATSSGAGVFKMGRF
QVSVAADGAQKEGKNKSEDAKSVHFESSTSESSVLSSSSPESTLVKPEPNGITIPGISSD
VPESAHKTTASEAKSDTGQPTKVGRFQVTTTANKVGRFSVSKTEDKITDTKKEGPVASPP
FMDLEQAVLPAVIPKKEKPELSEPSHLNGPSSDPEAAFLSRDVDDGSGSPHSPHQLSSKS
LPSQNLSQSLSNSFNSSYMSSDNESDIEDEDLKLELRRLRDKHLKEIQDLQSRQKHEIES
LYTKLGKVPPAVIIPPAAPLSGRRRRPTKSKGSKSSRSSSLGNKSPQLSGNLSGQSAASV
LHPQQTLHPPGNIPESGQNQLLQPLKPSPSSDNLYSAFTSDGAISVPSLSAPGQGTSSTN
TVGATVNSQAAQAQPPAMTSSRKGTFTDDLHKLVDNWARDAMNLSGRRGSKGHMNYEGPG
MARKFSAPGQLCISMTSNLGGSAPISAASATSLGHFTKSMCPPQQYGFPATPFGAQWSGT
GGPAPQPLGQFQPVGTASLQNFNISNLQKSISNPPGSNLRTT
Sequence length 2382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Parathyroid hormone synthesis, secretion and action   Stimuli-sensing channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3458
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary neuropathy or pain disorder Pathogenic rs111033591 RCV005865158
Neuropathy, hereditary sensory and autonomic, type 2A Pathogenic; Likely pathogenic rs2154071377, rs2154071399, rs2154071927, rs2154096075, rs2154072180, rs2154071932, rs1951918264, rs750907088, rs768622577, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332, rs1194157372
View all (38 more)
RCV001381962
RCV001383729
RCV001389427
RCV002050443
RCV001900804
RCV002035446
RCV001994487
RCV003062474
RCV003084515
RCV000005471
RCV000020433
RCV000005475
RCV000005477
RCV000005478
RCV002810493
RCV002880923
RCV002872169
RCV002853072
RCV002898590
RCV003029175
RCV003057806
RCV002518469
RCV005216025
RCV003782797
RCV003792054
RCV003808064
RCV003799075
RCV003809704
RCV000020431
RCV000020432
RCV000788052
RCV000815973
RCV000815873
RCV000797300
RCV001078194
RCV001219379
RCV001228794
RCV001239765
RCV001249536
RCV001249537
RCV001249538
RCV001249540
RCV001249541
RCV001249542
RCV001249543
RCV001249544
RCV001249545
RCV001249546
RCV001249547
RCV001249548
RCV001249549
RCV001249550
RCV001249539
Pseudohypoaldosteronism type 2C Likely pathogenic; Pathogenic rs746484082, rs2154071377, rs2154071399, rs2154071927, rs2154096075, rs2154072180, rs2154071932, rs1951918264, rs750907088, rs768622577, rs111033590, rs111033591, rs1194157372, rs2548597368, rs2548836529
View all (21 more)
RCV004577622
RCV001381962
RCV001383729
RCV001389427
RCV002050443
RCV001900804
RCV002035446
RCV001994487
RCV003062474
RCV003084515
RCV005222668
RCV000822434
RCV002810493
RCV002880923
RCV002872169
RCV002853072
RCV002898590
RCV003029175
RCV003057806
RCV002518469
RCV005216025
RCV003782797
RCV003792054
RCV003808064
RCV003799075
RCV003809704
RCV001851969
RCV000647840
RCV001869016
RCV000815973
RCV000815873
RCV000797300
RCV001219379
RCV001228794
RCV001239765
RCV002568696
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs72650719 RCV005893166
Cervical cancer Benign rs72650719 RCV005893168
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Uncertain significance rs1591543044, rs1591818480, rs1591884457, rs1591884532, rs1591884667 RCV000790295
RCV000790266
RCV000790264
RCV000790294
RCV000790265
Clear cell carcinoma of kidney Benign; Likely benign rs72650719, rs201726656, rs149186881 RCV005893169
RCV005893171
RCV005896882
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 31821324
Alzheimer Disease Associate 18842138, 27050411
Autonomic Nervous System Diseases Associate 27765018
Brain Diseases Associate 27050411
Breast Neoplasms Associate 37307465
Cancer Pain Associate 27765018
Carcinoma Hepatocellular Associate 32871793, 36618969, 37787401
Cardiovascular Diseases Associate 18842138
Charcot Marie Tooth disease Type 4E Associate 36151370
Colorectal Neoplasms Associate 22860045