Disease table of PSEUDOHYPOALDOSTERONISM, TYPE II OMIM ID: PS145260

Gene-disease associations table

GeneAssociated with PSEUDOHYPOALDOSTERONISM, TYPE II inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
WNK1OMIMHGNC link12p13.332PS162400, PS145260
KLHL3ClinVar, OMIM, HUMSAVARHGNC link5q31.21PS145260
WNK4ClinVar, OMIM, HUMSAVARHGNC link17q21.21PS145260
CUL3ClinVar, OMIM, HUMSAVARHGNC link2q36.21PS145260

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
WNK1KLHL3Yes3WNK1, KLHL3, WNK2
WNK1WNK4No5KLHL3, NEDD4L, YWHAQ, KLHL2, SGK1
WNK1CUL3No19FLNC, VCP, HNRNPD, KLHL3, TNRC6A, KLHL2, CSDE1, CLTC, PPP1CA, PRKAR1A, YWHAE, COPS5, YWHAB, PFKP, MMS19, YWHAG, PRKAR1B, YWHAQ, YWHAZ
KLHL3WNK4Yes3KLHL3, CUL3, AKT1
KLHL3CUL3Yes9KEAP1, RBX1, WNK4, ELAVL1, KLHL12, CUL3, PRKACA, KLHL3, SQSTM1
WNK4CUL3Yes6KLHL2, BCL6, YWHAQ, HSP90AA1, KLHL3, CUL3

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
WNK1KLHL3Yesbinding1KLHL2
WNK1WNK4No-15RPS27A, ITSN1, KCNJ1, SCNN1B, UBA52, OXSR1, KLHL2, SMAD2, SCNN1A, SCNN1D, UBC, UBB, KLHL3, SCNN1G, SGK1
WNK1CUL3No-6RPS27A, UBA52, KLHL2, UBC, UBB, KLHL3
KLHL3WNK4Yesbinding2KLHL2, CUL3
KLHL3CUL3Yesbinding22KLHL7, WNK4, KLHL22, TNFAIP1, KLHL21, KLHL25, KLHDC5, SPOPL, KEAP1, KLHL13, KBTBD10, KLHL9, ENC1, KLHL2, KCTD13, KLHL12, KCTD10, RBX1, KLHL8, SPOP, KLHL20, GLMN
WNK4CUL3Yesbinding6RPS27A, UBA52, KLHL2, UBC, UBB, KLHL3

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
KLHL3WNK4Yes2KLHL3, WNK4
KLHL3CUL3Yes2KLHL3, CUL3
WNK4CUL3No1KLHL3

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Ion channel transportR-HSA-9837125.342WNK1, WNK4
Transmembrane transport of small moleculesR-HSA-3825513.792WNK1, WNK4
Stimuli-sensing channelsR-HSA-26723516.282WNK1, WNK4

NET-GE enrichment

Term New enriched termICP valueGenes
Stimuli-sensing channels (R-HSA-2672351) -6.280.037WNK1, WNK4
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.054WNK1, KLHL3, CUL3, WNK4
transferase activity (GO:0016740) 1.954WNK1, KLHL3, CUL3, WNK4
binding (GO:0005488) 0.184WNK1, KLHL3, CUL3, WNK4
protein binding (GO:0005515) 0.464WNK1, KLHL3, CUL3, WNK4
purine ribonucleoside triphosphate binding (GO:0035639) 2.222WNK1, WNK4
enzyme binding (GO:0019899) 2.272WNK1, CUL3
protein kinase activity (GO:0004672) 3.272WNK1, WNK4
molecular function regulator (GO:0098772) 2.512WNK1, WNK4
heterocyclic compound binding (GO:1901363) 1.062WNK1, WNK4
purine nucleoside binding (GO:0001883) 2.222WNK1, WNK4
nucleoside binding (GO:0001882) 2.212WNK1, WNK4
ubiquitin-like protein transferase activity (GO:0019787) 3.692KLHL3, CUL3
ion channel inhibitor activity (GO:0008200) 6.152WNK1, WNK4
nucleotide binding (GO:0000166) 1.962WNK1, WNK4
protein serine/threonine kinase activity (GO:0004674) 3.642WNK1, WNK4
nucleoside phosphate binding (GO:1901265) 1.962WNK1, WNK4
ribonucleoside binding (GO:0032549) 2.222WNK1, WNK4
channel regulator activity (GO:0016247) 4.882WNK1, WNK4
purine nucleotide binding (GO:0017076) 2.192WNK1, WNK4
ATP binding (GO:0005524) 2.432WNK1, WNK4
kinase activity (GO:0016301) 2.932WNK1, WNK4
channel inhibitor activity (GO:0016248) 6.132WNK1, WNK4
small molecule binding (GO:0036094) 1.892WNK1, WNK4
ubiquitin-protein transferase activity (GO:0004842) 3.732KLHL3, CUL3
chloride channel inhibitor activity (GO:0019869) 7.542WNK1, WNK4
adenyl nucleotide binding (GO:0030554) 2.42WNK1, WNK4
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082WNK1, WNK4
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772WNK1, WNK4
carbohydrate derivative binding (GO:0097367) 2.032WNK1, WNK4
chloride channel regulator activity (GO:0017081) 7.032WNK1, WNK4
adenyl ribonucleotide binding (GO:0032559) 2.412WNK1, WNK4
organic cyclic compound binding (GO:0097159) 1.052WNK1, WNK4
purine ribonucleotide binding (GO:0032555) 2.22WNK1, WNK4
purine ribonucleoside binding (GO:0032550) 2.222WNK1, WNK4
ribonucleotide binding (GO:0032553) 2.192WNK1, WNK4

NET-GE enrichment

Term New enriched termICP valueGenes
solute (GO:0015294) NEW5.150.05WNK1, WNK4
chloride channel inhibitor activity (GO:0019869) -7.540.0WNK1, WNK4
chloride channel regulator activity (GO:0017081) -7.030.001WNK1, WNK4
channel inhibitor activity (GO:0016248) -6.130.012WNK1, WNK4
channel regulator activity (GO:0016247) -4.880.01WNK1, WNK4
ion channel inhibitor activity (GO:0008200) -6.150.012WNK1, WNK4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364WNK1, KLHL3, CUL3, WNK4
cellular protein metabolic process (GO:0044267) 1.634WNK1, KLHL3, CUL3, WNK4
cellular process (GO:0009987) 0.264WNK1, KLHL3, CUL3, WNK4
cellular macromolecule metabolic process (GO:0044260) 0.934WNK1, KLHL3, CUL3, WNK4
primary metabolic process (GO:0044238) 0.694WNK1, KLHL3, CUL3, WNK4
protein metabolic process (GO:0019538) 1.454WNK1, KLHL3, CUL3, WNK4
transport (GO:0006810) 1.514WNK1, KLHL3, CUL3, WNK4
cellular protein modification process (GO:0006464) 1.794WNK1, KLHL3, CUL3, WNK4
macromolecule metabolic process (GO:0043170) 0.834WNK1, KLHL3, CUL3, WNK4
single-organism developmental process (GO:0044767) 1.494WNK1, KLHL3, CUL3, WNK4
organic substance metabolic process (GO:0071704) 0.634WNK1, KLHL3, CUL3, WNK4
macromolecule modification (GO:0043412) 1.734WNK1, KLHL3, CUL3, WNK4
protein modification process (GO:0036211) 1.794WNK1, KLHL3, CUL3, WNK4
biological regulation (GO:0065007) 0.394WNK1, KLHL3, CUL3, WNK4
cellular metabolic process (GO:0044237) 0.694WNK1, KLHL3, CUL3, WNK4
metabolic process (GO:0008152) 0.584WNK1, KLHL3, CUL3, WNK4
establishment of localization (GO:0051234) 1.484WNK1, KLHL3, CUL3, WNK4
localization (GO:0051179) 1.44WNK1, KLHL3, CUL3, WNK4
single-organism process (GO:0044699) 0.484WNK1, KLHL3, CUL3, WNK4
protein phosphorylation (GO:0006468) 2.893WNK1, CUL3, WNK4
multicellular organismal process (GO:0032501) 1.453KLHL3, CUL3, WNK4
regulation of biological quality (GO:0065008) 1.683WNK1, KLHL3, WNK4
phosphorylation (GO:0016310) 2.633WNK1, CUL3, WNK4
ion transport (GO:0006811) 2.663WNK1, KLHL3, WNK4
regulation of cellular process (GO:0050794) 0.53WNK1, CUL3, WNK4
phosphate-containing compound metabolic process (GO:0006796) 2.163WNK1, CUL3, WNK4
signal transduction (GO:0007165) 1.283WNK1, CUL3, WNK4
phosphorus metabolic process (GO:0006793) 2.153WNK1, CUL3, WNK4
positive regulation of biological process (GO:0048518) 1.23WNK1, CUL3, WNK4
negative regulation of biological process (GO:0048519) 1.333WNK1, CUL3, WNK4
intracellular signal transduction (GO:0035556) 2.393WNK1, CUL3, WNK4
anatomical structure morphogenesis (GO:0009653) 2.533KLHL3, CUL3, WNK4
regulation of biological process (GO:0050789) 0.453WNK1, CUL3, WNK4
positive regulation of ion transmembrane transporter activity (GO:0032414) 5.552WNK1, WNK4
negative regulation of metabolic process (GO:0009892) 1.932WNK1, CUL3
regulation of primary metabolic process (GO:0080090) 1.082WNK1, CUL3
regulation of secretion (GO:0051046) 3.22WNK1, WNK4
negative regulation of secretion (GO:0051048) 4.442WNK1, WNK4
regulation of transport (GO:0051049) 2.242WNK1, WNK4
ion homeostasis (GO:0050801) 3.422KLHL3, WNK4
negative regulation of cellular metabolic process (GO:0031324) 2.012WNK1, CUL3
regulation of cellular metabolic process (GO:0031323) 1.072WNK1, CUL3
regulation of homeostatic process (GO:0032844) 3.652WNK1, WNK4
homeostatic process (GO:0042592) 2.612KLHL3, WNK4
renal system process (GO:0003014) 5.172KLHL3, WNK4
nephron tubule morphogenesis (GO:0072078) 7.162KLHL3, WNK4
positive regulation of transmembrane transport (GO:0034764) 4.992WNK1, WNK4
regulation of ion transmembrane transport (GO:0034765) 3.772WNK1, WNK4
distal tubule morphogenesis (GO:0072156) 8.632KLHL3, WNK4
protein polyubiquitination (GO:0000209) 4.232KLHL3, CUL3
regulation of transmembrane transport (GO:0034762) 3.742WNK1, WNK4
positive regulation of transporter activity (GO:0032411) 5.442WNK1, WNK4
negative regulation of digestive system process (GO:0060457) 7.092WNK1, WNK4
positive regulation of ion transmembrane transport (GO:0034767) 5.052WNK1, WNK4
negative regulation of macromolecule metabolic process (GO:0010605) 2.012WNK1, CUL3
regulation of metabolic process (GO:0019222) 1.022WNK1, CUL3
regulation of system process (GO:0044057) 3.532WNK1, WNK4
cellular developmental process (GO:0048869) 1.822WNK1, CUL3
negative regulation of multicellular organismal process (GO:0051241) 2.842WNK1, WNK4
protein modification by small protein conjugation or removal (GO:0070647) 2.952KLHL3, CUL3
regulation of digestive system process (GO:0044058) 6.172WNK1, WNK4
renal sodium ion transport (GO:0003096) 8.342KLHL3, WNK4
protein modification by small protein conjugation (GO:0032446) 3.12KLHL3, CUL3
regulation of transporter activity (GO:0032409) 4.452WNK1, WNK4
protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) 4.832KLHL3, CUL3
regulation of ion transport (GO:0043269) 3.42WNK1, WNK4
positive regulation of molecular function (GO:0044093) 2.232WNK1, WNK4
regulation of body fluid levels (GO:0050878) 3.762WNK1, WNK4
epithelial tube morphogenesis (GO:0060562) 5.122KLHL3, WNK4
regulation of molecular function (GO:0065009) 1.782WNK1, WNK4
monovalent inorganic cation transport (GO:0015672) 3.742KLHL3, WNK4
renal tubule morphogenesis (GO:0061333) 6.92KLHL3, WNK4
tube morphogenesis (GO:0035239) 4.352KLHL3, WNK4
tissue morphogenesis (GO:0048729) 3.872KLHL3, WNK4
negative regulation of transport (GO:0051051) 3.62WNK1, WNK4
positive regulation of transport (GO:0051050) 2.92WNK1, WNK4
regulation of macromolecule metabolic process (GO:0060255) 1.082WNK1, CUL3
cation transport (GO:0006812) 3.112KLHL3, WNK4
sodium ion transport (GO:0006814) 4.752KLHL3, WNK4
positive regulation of ion transport (GO:0043270) 4.362WNK1, WNK4
metal ion transport (GO:0030001) 3.362KLHL3, WNK4
regulation of multicellular organismal process (GO:0051239) 1.872WNK1, WNK4
negative regulation of pancreatic juice secretion (GO:0090188) 8.122WNK1, WNK4
regulation of localization (GO:0032879) 1.942WNK1, WNK4
system process (GO:0003008) 2.32KLHL3, WNK4
regulation of transmembrane transporter activity (GO:0022898) 4.522WNK1, WNK4
regulation of pancreatic juice secretion (GO:0090186) 7.652WNK1, WNK4
anatomical structure development (GO:0048856) 1.582WNK1, CUL3
chemical homeostasis (GO:0048878) 2.972KLHL3, WNK4
renal sodium ion absorption (GO:0070294) 8.632KLHL3, WNK4
protein ubiquitination (GO:0016567) 3.282KLHL3, CUL3
regulation of ion homeostasis (GO:2000021) 4.442WNK1, WNK4
negative regulation of cellular process (GO:0048523) 1.412WNK1, CUL3
renal absorption (GO:0070293) 7.242KLHL3, WNK4
single-organism cellular process (GO:0044763) 0.652WNK1, CUL3
nephron epithelium morphogenesis (GO:0072088) 7.162KLHL3, WNK4
regulation of ion transmembrane transporter activity (GO:0032412) 4.552WNK1, WNK4
morphogenesis of an epithelium (GO:0002009) 4.082KLHL3, WNK4

NET-GE enrichment

Term New enriched termICP valueGenes
renal sodium ion absorption (GO:0070294) -8.630.0KLHL3, WNK4
renal tubule morphogenesis (GO:0061333) -6.90.001KLHL3, WNK4
protein K48-linked ubiquitination (GO:0070936) NEW5.880.044KLHL3, CUL3
tube morphogenesis (GO:0035239) -4.350.043KLHL3, WNK4
distal tubule morphogenesis (GO:0072156) -8.630.0KLHL3, WNK4
negative regulation of pancreatic juice secretion (GO:0090188) -8.120.0WNK1, WNK4
regulation of pancreatic juice secretion (GO:0090186) -7.650.0WNK1, WNK4
regulation of digestive system process (GO:0044058) -6.170.032WNK1, WNK4
renal sodium ion transport (GO:0003096) -8.340.0KLHL3, WNK4
negative regulation of digestive system process (GO:0060457) -7.090.004WNK1, WNK4
renal system process (GO:0003014) -5.170.021WNK1, KLHL3, CUL3, WNK4
nephron tubule morphogenesis (GO:0072078) -7.160.009KLHL3, WNK4
renal absorption (GO:0070293) -7.240.005KLHL3, WNK4
metal ion transport (GO:0030001) -3.360.023WNK1, KLHL3, CUL3, WNK4
epithelial tube morphogenesis (GO:0060562) -5.120.035KLHL3, WNK4
nephron epithelium morphogenesis (GO:0072088) -7.160.009KLHL3, WNK4
monovalent inorganic cation transport (GO:0015672) -3.740.003WNK1, KLHL3, CUL3, WNK4
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.014WNK1, KLHL3, CUL3, WNK4
intracellular part (GO:0044424) 0.284WNK1, KLHL3, CUL3, WNK4
cytosol (GO:0005829) 1.684WNK1, KLHL3, CUL3, WNK4
cell part (GO:0044464) 0.114WNK1, KLHL3, CUL3, WNK4
cytoplasmic part (GO:0044444) 0.824WNK1, KLHL3, CUL3, WNK4
protein complex (GO:0043234) 1.512KLHL3, CUL3
macromolecular complex (GO:0032991) 1.352KLHL3, CUL3
catalytic complex (GO:1902494) 2.92KLHL3, CUL3
ubiquitin ligase complex (GO:0000151) 4.232KLHL3, CUL3
intracellular organelle (GO:0043229) 0.512KLHL3, CUL3
transferase complex (GO:1990234) 3.322KLHL3, CUL3
cullin-RING ubiquitin ligase complex (GO:0031461) 4.792KLHL3, CUL3
Cul3-RING ubiquitin ligase complex (GO:0031463) 5.642KLHL3, CUL3
organelle (GO:0043226) 0.42KLHL3, CUL3

NET-GE enrichment

Term New enriched termICP valueGenes
cullin-RING ubiquitin ligase complex (GO:0031461) -4.790.021KLHL3, CUL3
Cul3-RING ubiquitin ligase complex (GO:0031463) -5.640.0KLHL3, CUL3
ubiquitin ligase complex (GO:0000151) -4.230.022KLHL3, CUL3