Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65125
Gene name Gene Name - the full gene name approved by the HGNC.
WNK lysine deficient protein kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
WNK1
Synonyms (NCBI Gene) Gene synonyms aliases
HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005582 hsa-miR-192-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20813867
MIRT005583 hsa-miR-215-5p Luciferase reporter assay, Northern blot, qRT-PCR, Western 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002028 Process Regulation of sodium ion transport ISS
GO:0004672 Function Protein kinase activity IMP 16669787
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 10660600
GO:0004674 Function Protein serine/threonine kinase activity ISS 27400149
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605232 14540 ENSG00000060237
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Dysautonomia Hereditary Motor and Sensory-Neuropathy Type II rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
15060842
Hereditary sensory and autonomic neuropathy Hereditary Sensory Autonomic Neuropathy, Type 2, Hereditary sensory and autonomic neuropathy type 2 rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332
View all (41 more)
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Metabolic Syndrome Metabolic Syndrome GWAS
Psoriasis Psoriasis GWAS
Uterine Fibroids Uterine Fibroids GWAS
Associations from Text Mining
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