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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hereditary neuropathy or pain disorder Pathogenic rs111033591 RCV005865158
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (48 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (31 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL SEROUS RETINOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acro-Osteolysis Acrosteolysis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 26378023
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12458326
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 21901538
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 27959400, 30570131, 31671079
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 12214859, 28317833
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17078054, 17493236, 9918209
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25499851, 25820700, 29207489, 30797499
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 16849549, 20556833
★☆☆☆☆
Found in Text Mining only