WNK3 (WNK lysine deficient protein kinase 3)

2014-11-01  

Identity

HGNC
WNK3
LOCATION
Xp11.22
LOCUSID
65267
ALIAS
PRKWNK3

Other Information

Locus ID:

NCBI: 65267
MIM: 300358
HGNC: 14543
Ensembl: ENSG00000196632

Variants:

dbSNP: 65267
ClinVar: 65267
TCGA: ENSG00000196632
COSMIC: WNK3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196632ENST00000354646Q9BYP7
ENSG00000196632ENST00000375159Q9BYP7
ENSG00000196632ENST00000458404B1AQN8
ENSG00000196632ENST00000620763A0A087WYK2

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA321SLC12A3GenePathwayassociated23788015
PA33782WNK1GenePathwayassociated23788015
PA38243STK39GenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179756702007The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complex.58
208199792011Altered expression of regulators of the cortical chloride transporters NKCC1 and KCC2 in schizophrenia.37
205256932010Serum and glucocorticoid-induced kinase (SGK) 1 and the epithelial sodium channel are regulated by multiple with no lysine (WNK) family members.30
194706862009Renal and brain isoforms of WNK3 have opposite effects on NCCT expression.23
260692582015Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke.23
184983742008Autism-associated familial microdeletion of Xp11.22.22
184983742008Autism-associated familial microdeletion of Xp11.22.22
151941942004Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3).20
187016212008WNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporter.20

Citation

Dessen P

WNK3 (WNK lysine deficient protein kinase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75766/wnk3