Free for academic non-profit institutions. Other users need a Commercial license

Aliases for WNK1 Gene

Aliases for WNK1 Gene

  • WNK Lysine Deficient Protein Kinase 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 167 2 3
  • Protein Kinase With No Lysine 1 3 4
  • Erythrocyte 65 KDa Protein 3 4
  • EC 2.7.11.1 4 58
  • PRKWNK1 3 4
  • HSN2 3 4
  • P65 3 4
  • KDP 3 4
  • WNK Lysine Deficient Protein Kinase 1 Isoform 3
  • Prostate-Derived Sterile 20-Like Kinase 3
  • Hereditary Sensory Neuropathy, Type II 2
  • Serine/Threonine-Protein Kinase WNK1 1 3
  • Serine/Threonine-Protein Kinase WNK1 2 3
  • Serine/Threonine-Protein Kinase WNK1 3
  • Protein Kinase, Lysine Deficient 1 2
  • Protein Kinase Lysine-Deficient 1 4
  • Kinase Deficient Protein 4
  • EC 2.7.11 58
  • PPP1R167 3
  • KIAA0344 4
  • HSAN2 3
  • HWNK1 4
  • PSK 3

External Ids for WNK1 Gene

Previous HGNC Symbols for WNK1 Gene

  • PRKWNK1
  • HSN2

Previous GeneCards Identifiers for WNK1 Gene

  • GC12P000862

Summaries for WNK1 Gene

Entrez Gene Summary for WNK1 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 pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

GeneCards Summary for WNK1 Gene

WNK1 (WNK Lysine Deficient Protein Kinase 1) is a Protein Coding gene. Diseases associated with WNK1 include Neuropathy, Hereditary Sensory And Autonomic, Type Ii and Pseudohypoaldosteronism, Type Iic. Among its related pathways are Akt Signaling and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is WNK2.

UniProtKB/Swiss-Prot for WNK1 Gene

  • Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).

  • Isoform 3: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.

Gene Wiki entry for WNK1 Gene

Additional gene information for WNK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WNK1 Gene

Genomics for WNK1 Gene

Regulatory Elements for WNK1 Gene

Enhancers for WNK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H000615 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.2 -135.8 -135782 3 ELF3 FOXA2 ARID4B ZSCAN9 RAD21 RARA YY1 SLC30A9 MIXL1 THAP11 LOC100049716 KDM5A WNK1 LOC105369595 NINJ2 CCDC77 GC12M000616
GH12H000805 1.5 Ensembl ENCODE dbSUPER 17.9 +54.6 54621 2 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 YY1 ZNF121 KLF7 RUNX3 TSHZ1 RAD52 WNK1 RNU4ATAC16P LOC101929384 ENSG00000261799 KDM5A GC12P000887
GH12H000569 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -181.5 -181501 3 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 LOC100049716 LOC105369595 WNK1 NINJ2 ENSG00000250132 ERC1 RAD52 GC12M000554 PIR38262
GH12H000621 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -130.0 -129993 2 SP5 JUN CEBPB CEBPG ELF1 RARA TEAD3 ZNF121 JUND CEBPA LOC100049716 NINJ2 WNK1 KDM5A CCDC77 GC12M000616
GH12H000666 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -85.5 -85493 1 PKNOX1 INSM2 GLI4 BATF ZNF2 ZBTB40 ZSCAN5C SCRT2 ZNF143 ZNF207 LOC100049716 WNK1 ENSG00000250132 ERC1 RAD52 NINJ2 GC12M000678 PIR42004
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WNK1 on UCSC Golden Path with GeneCards custom track

Promoters for WNK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000047585 -1393 801 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CBX5 ZNF207
ENSR00000266766 1407 4401 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for WNK1 Gene

Chromosome:
12
Start:
752,593 bp from pter
End:
911,452 bp from pter
Size:
158,860 bases
Orientation:
Plus strand

Genomic View for WNK1 Gene

Genes around WNK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WNK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WNK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WNK1 Gene

Proteins for WNK1 Gene

  • Protein details for WNK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4A3-WNK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase WNK1
    Protein Accession:
    Q9H4A3
    Secondary Accessions:
    • A1L4B0
    • C5HTZ5
    • C5HTZ6
    • C5HTZ7
    • H6WZW3
    • O15052
    • P54963
    • Q4VBX9
    • Q6IFS5
    • Q86WL5
    • Q8N673
    • Q96CZ6
    • Q9P1S9

    Protein attributes for WNK1 Gene

    Size:
    2382 amino acids
    Molecular mass:
    250794 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with SYT2 (By similarity). Interacts with WNK3 and WNK4 (By similarity). Interacts with KLHL3 (PubMed:23387299, PubMed:23576762). Isoform 3: Interacts with isoform 1 (By similarity).
    SequenceCaution:
    • Sequence=AAF31483.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAI30468.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI30470.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=DAA04494.1; Type=Erroneous gene model prediction; Note=Includes 3 and 3 intronic sequences.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WNK1 Gene

    Alternative splice isoforms for WNK1 Gene

neXtProt entry for WNK1 Gene

Selected DME Specific Peptides for WNK1 Gene

Q9H4A3:
  • FTDDLHKLVD
  • PPIIHRD
  • EIGRGSF
  • PLLPQVP
  • QRFKEEAEMLKGLQHPNIVRFYDSWES
  • EYPYSEC
  • KMVTFKFD
  • KIGDLGLA
  • VIGTPEFMAPE
  • PEVKEIIEGCIR
  • FGMCMLEM
  • TELMTSGTL
  • KDNEAIEFSF
  • GTPEFMAPE
  • DLLNHAFF
  • IHRDLKCDNIF
  • YDESVDV
  • VEVAWCELQDRKLTK
  • MSSDNES

Post-translational modifications for WNK1 Gene

  • Autophosphorylation at Ser-382 is inhibited by intracellular calcium.
  • May be O-glycosylated.
  • Ubiquitinated in vitro by the BCR(KLHL3) complex and in vivo by a BCR(KLHL2) complex, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for WNK1 (WNK1)

Domains & Families for WNK1 Gene

Gene Families for WNK1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for WNK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4A3

UniProtKB/Swiss-Prot:

WNK1_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily.
genes like me logo Genes that share domains with WNK1: view

Function for WNK1 Gene

Molecular function for WNK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
By hypertonicity. Activation requires autophosphorylation of Ser-382, that may be regulated by calcium. Phosphorylation of Ser-378 also promotes increased activity.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D and SGK1. Controls sodium and chloride ion transport by inhibiting the activity of WNK4, by either phosphorylating the kinase or via an interaction between WNK4 and the autoinhibitory domain of WNK1. WNK4 regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation. WNK1 may also play a role in actin cytoskeletal reorganization. Phosphorylates NEDD4L. Acts as a scaffold to inhibit SLC4A4, SLC26A6 as well as CFTR activities and surface expression, recruits STK39 which mediates the inhibition (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 3: Dominant-negative regulator of the longer isoform 1. Does not have kinase activity, does not directly inhibit WNK4 and has no direct effect on sodium and chloride ion transport. Downregulates sodium-chloride cotransporter activity indirectly by inhibiting isoform 1, it associates with isoform 1 and attenuates its kinase activity. In kidney, may play an important role regulating sodium and potassium balance.

Enzyme Numbers (IUBMB) for WNK1 Gene

Phenotypes From GWAS Catalog for WNK1 Gene

Gene Ontology (GO) - Molecular Function for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004672 protein kinase activity IMP 16669787
GO:0004674 protein serine/threonine kinase activity TAS 24393035
GO:0004860 protein kinase inhibitor activity IEA --
GO:0005515 protein binding IPI 15350218
genes like me logo Genes that share ontologies with WNK1: view
genes like me logo Genes that share phenotypes with WNK1: view

Human Phenotype Ontology for WNK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for WNK1

CRISPR Products

miRNA for WNK1 Gene

miRTarBase miRNAs that target WNK1

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for WNK1 Gene

Localization for WNK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WNK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WNK1 gene
Compartment Confidence
cytosol 5
plasma membrane 2
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 10660600
GO:0005829 cytosol ISS --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with WNK1: view

Pathways & Interactions for WNK1 Gene

genes like me logo Genes that share pathways with WNK1: view

Pathways by source for WNK1 Gene

1 Cell Signaling Technology pathway for WNK1 Gene
1 PharmGKB pathway for WNK1 Gene
3 Qiagen pathways for WNK1 Gene

SIGNOR curated interactions for WNK1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for WNK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport ISS --
GO:0003084 positive regulation of systemic arterial blood pressure IEA --
GO:0006468 protein phosphorylation IMP 16669787
GO:0006469 negative regulation of protein kinase activity IEA --
GO:0006811 ion transport ISS --
genes like me logo Genes that share ontologies with WNK1: view

Drugs & Compounds for WNK1 Gene

(12) Drugs for WNK1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrochlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor 421
ATP Nutra Agonist 0
Magnesium Nutra 0

(8) Additional Compounds for WNK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with WNK1: view

Transcripts for WNK1 Gene

Unigene Clusters for WNK1 Gene

WNK lysine deficient protein kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for WNK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for WNK1 Gene

GeneLoc Exon Structure for
WNK1
ECgene alternative splicing isoforms for
WNK1

Expression for WNK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WNK1 Gene

Protein differential expression in normal tissues from HIPED for WNK1 Gene

This gene is overexpressed in Adrenal (38.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WNK1 Gene



Protein tissue co-expression partners for WNK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WNK1 Gene:

WNK1

SOURCE GeneReport for Unigene cluster for WNK1 Gene:

Hs.744906

mRNA Expression by UniProt/SwissProt for WNK1 Gene:

Q9H4A3-WNK1_HUMAN
Tissue specificity: Widely expressed, with highest levels observed in the testis, heart, kidney and skeletal muscle. Isoform 3 is kidney-specific and specifically expressed in the distal convoluted tubule (DCT) and connecting tubule (CNT) of the nephron.

Evidence on tissue expression from TISSUES for WNK1 Gene

  • Nervous system(5)
  • Liver(4.3)
  • Kidney(3.8)
  • Intestine(2.9)
  • Lung(2.9)
  • Blood(2.5)
  • Skin(2.4)
  • Eye(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WNK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with WNK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for WNK1 Gene

Orthologs for WNK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WNK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WNK1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WNK1 33 34
  • 91.13 (n)
rat
(Rattus norvegicus)
Mammalia Wnk1 33
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia Wnk1 33 16 34
  • 86.87 (n)
cow
(Bos Taurus)
Mammalia WNK1 33 34
  • 82.45 (n)
oppossum
(Monodelphis domestica)
Mammalia WNK1 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WNK1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves WNK1 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WNK1 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8259 33
zebrafish
(Danio rerio)
Actinopterygii wnk1a 34
  • 51 (a)
OneToMany
wnk1b 34
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Wnk 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wnk-1 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 79 (a)
OneToMany
Species where no ortholog for WNK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WNK1 Gene

ENSEMBL:
Gene Tree for WNK1 (if available)
TreeFam:
Gene Tree for WNK1 (if available)

Paralogs for WNK1 Gene

Variants for WNK1 Gene

Sequence variations from dbSNP and Humsavar for WNK1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_035640 A colorectal cancer sample
VAR_035641 Breast cancer samples
VAR_041311 A breast pleomorphic lobular carcinoma sample
VAR_041320 A breast pleomorphic lobular carcinoma sample
VAR_041321 A lung adenocarcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for WNK1 Gene

Variant ID Type Subtype PubMed ID
dgv1335n100 CNV loss 25217958
dgv1336n100 CNV loss 25217958
dgv2251n54 CNV gain 21841781
dgv2253n54 CNV loss 21841781
dgv2254n54 CNV loss 21841781
dgv2255n54 CNV loss 21841781
dgv2256n54 CNV loss 21841781
dgv2257n54 CNV loss 21841781
dgv2258n54 CNV loss 21841781
dgv2259n54 CNV loss 21841781
dgv2260n54 CNV loss 21841781
dgv242e214 CNV gain 21293372
dgv254e199 CNV deletion 23128226
dgv27e180 CNV deletion 20482838
dgv41n73 CNV deletion 24416366
dgv431e212 CNV loss 25503493
dgv432e212 CNV loss 25503493
dgv433e212 CNV loss 25503493
esv2422082 CNV deletion 20811451
esv24614 CNV gain 19812545
esv2745368 CNV deletion 23290073
esv2745369 CNV deletion 23290073
esv2759875 CNV gain+loss 17122850
esv2760258 CNV loss 21179565
esv2760688 CNV loss 21179565
esv2870457 CNV deletion 24192839
esv3304974 CNV mobile element insertion 20981092
esv3405389 CNV insertion 20981092
esv3548603 CNV deletion 23714750
esv3580021 CNV loss 25503493
esv3628254 CNV loss 21293372
esv3628255 CNV gain 21293372
esv3628256 CNV loss 21293372
esv3628259 CNV gain 21293372
esv3628261 CNV gain 21293372
nsv1038532 CNV gain 25217958
nsv1042333 CNV gain 25217958
nsv1070999 CNV deletion 25765185
nsv1119925 CNV deletion 24896259
nsv1122686 CNV deletion 24896259
nsv1159950 CNV duplication 26073780
nsv1159951 CNV deletion 26073780
nsv1159952 CNV duplication 26073780
nsv437133 CNV loss 16327808
nsv442628 CNV gain+loss 18776908
nsv468959 CNV loss 19166990
nsv478837 CNV novel sequence insertion 20440878
nsv511011 OTHER complex 20534489
nsv514674 CNV loss 21397061
nsv518946 CNV loss 19592680
nsv522901 CNV gain 19592680
nsv524544 CNV gain 19592680
nsv556887 CNV gain 21841781
nsv556893 CNV gain 21841781
nsv556899 CNV loss 21841781
nsv556901 CNV gain 21841781
nsv556935 CNV loss 21841781
nsv819875 CNV gain 19587683
nsv821212 CNV deletion 20802225
nsv826175 CNV loss 20364138
nsv8888 CNV gain 18304495
nsv952782 CNV duplication 24416366

Variation tolerance for WNK1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.68; 96.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WNK1 Gene

Human Gene Mutation Database (HGMD)
WNK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WNK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WNK1 Gene

Disorders for WNK1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for WNK1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory and autonomic, type ii
  • neuropathy, hereditary sensory and autonomic, type iib
pseudohypoaldosteronism, type iic
  • pseudohypoaldosteronism type iic
pseudohypoaldosteronism
paronychia
  • fungal nail infection
neuropathy
  • peripheral neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search WNK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WNK1_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 2A (HSAN2A) [MIM:201300]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves. {ECO:0000269 PubMed:15060842, ECO:0000269 PubMed:15911806, ECO:0000269 PubMed:18521183}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudohypoaldosteronism 2C (PHA2C) [MIM:614492]: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics. {ECO:0000269 PubMed:11498583}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WNK1

Genetic Association Database (GAD)
WNK1
Human Genome Epidemiology (HuGE) Navigator
WNK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WNK1
genes like me logo Genes that share disorders with WNK1: view

No data available for Genatlas for WNK1 Gene

Publications for WNK1 Gene

  1. Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination. (PMID: 19609280) Osada Y … Yamakawa-Kobayashi K (Journal of human genetics 2009) 3 22 45 60
  2. Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion. (PMID: 19347040) Newhouse S … Munroe PB (PloS one 2009) 3 22 45 60
  3. Common variation in the WNK1 gene and blood pressure in childhood: the Avon Longitudinal Study of Parents and Children. (PMID: 18809789) Tobin MD … Burton PR (Hypertension (Dallas, Tex. : 1979) 2008) 3 22 45 60
  4. Physiological interaction between alpha-adducin and WNK1-NEDD4L pathways on sodium-related blood pressure regulation. (PMID: 18591455) Manunta P … Samani NJ (Hypertension (Dallas, Tex. : 1979) 2008) 3 22 45 60
  5. WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic. (PMID: 16172412) Turner ST … Boerwinkle E (Hypertension (Dallas, Tex. : 1979) 2005) 3 22 45 60

Products for WNK1 Gene

  • Addgene plasmids for WNK1

Sources for WNK1 Gene

Content
Loading form....