Disease table of PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE OMIM ID: 264350

Gene-disease associations table

GeneAssociated with PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SCNN1GClinVar, OMIMHGNC link16p12.23177200, 264350, PS211400
SCNN1BClinVar, OMIM, HUMSAVARHGNC link16p12.23177200, 264350, PS211400
SCNN1AClinVar, OMIM, HUMSAVARHGNC link12p13.312PS211400, 264350

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Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 6972SCNN1B, SCNN1G
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
16p12.22SCNN1B, SCNN1G
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
16p122SCNN1B, SCNN1G
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
16p12SCNN1B, SCNN1G
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
16p2SCNN1B, SCNN1G
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162SCNN1B, SCNN1G
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SCNN1BYES1SP10
SCNN1AYES2MLLT3, NR3C10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SCNN1GSCNN1BYes10COMMD1, STX1A, AP1M2, USP2, NEDD4L, SERP1, WWP2, USP8, EPN1, NEDD4
SCNN1GSCNN1ANo10STX1A, AP1M2, SCNN1B, USP2, NEDD4L, SERP1, WWP2, USP8, EPN1, NEDD4
SCNN1BSCNN1AYes12USP8, AP1M2, HGS, USP2, NEDD4L, SERP1, STX1A, ITCH, EPN1, HECW1, NEDD4, WWP2

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
SCNN1GSCNN1BYesbinding23SGK2, WWP1, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, SCNN1A, WNK2, WNK1, NEDD4, UBC, SCN8A, SGK1
SCNN1GSCNN1AYesbinding24SGK2, NEDD4, WWP1, USP2, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, WNK1, WNK2, SCNN1B, UBC, SCN8A, SGK1
SCNN1BSCNN1AYesbinding23SGK2, WWP1, SCNN1D, NEDD4L, SCN3B, UBB, RPS27A, WNK4, RAF1, SCN2A, SCNN1G, SCN2B, SGK3, UBA52, TSC22D3, SCN1B, SCN10A, WNK1, WNK2, NEDD4, UBC, SCN8A, SGK1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
SCNN1ASCNN1Byes, complexHeterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt]
SCNN1ASCNN1Gyes, complexHeterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt]
SCNN1BSCNN1Gyes, complexThey form a heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Aldosterone-regulated sodium reabsorptionhsa049607.413SCNN1G, SCNN1A, SCNN1B
Taste transductionhsa047426.993SCNN1G, SCNN1A, SCNN1B

NET-GE enrichment

Term New enriched termICP valueGenes
Sensory systemNEW3.670.014SCNN1G, SCNN1A, SCNN1B
Excretory systemNEW5.450.0SCNN1G, SCNN1A, SCNN1B
Aldosterone-regulated sodium reabsorption (hsa04960) -7.410.0SCNN1G, SCNN1A, SCNN1B
Taste transduction (hsa04742) -6.990.0SCNN1G, SCNN1A, SCNN1B
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Ion channel transportR-HSA-9837125.343SCNN1G, SCNN1A, SCNN1B
Transmembrane transport of small moleculesR-HSA-3825513.793SCNN1G, SCNN1A, SCNN1B
Stimuli-sensing channelsR-HSA-26723516.283SCNN1G, SCNN1A, SCNN1B

NET-GE enrichment

Term New enriched termICP valueGenes
Ion channel transport (R-HSA-983712) -5.340.0SCNN1G, SCNN1A, SCNN1B
L1CAM interactions (R-HSA-373760) NEW6.190.015SCNN1G, SCNN1A
Transmembrane transport of small molecules (R-HSA-382551) -3.790.025SCNN1G, SCNN1A, SCNN1B
Stimuli-sensing channels (R-HSA-2672351) -6.280.0SCNN1G, SCNN1A, SCNN1B
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation channel activity (GO:0005261) 4.043SCNN1G, SCNN1A, SCNN1B
ligand-gated sodium channel activity (GO:0015280) 7.543SCNN1G, SCNN1A, SCNN1B
molecular transducer activity (GO:0060089) 2.323SCNN1G, SCNN1A, SCNN1B
receptor activity (GO:0004872) 2.323SCNN1G, SCNN1A, SCNN1B
sodium ion transmembrane transporter activity (GO:0015081) 4.833SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.873SCNN1G, SCNN1A, SCNN1B
ligand-gated ion channel activity (GO:0015276) 4.83SCNN1G, SCNN1A, SCNN1B
passive transmembrane transporter activity (GO:0022803) 3.63SCNN1G, SCNN1A, SCNN1B
metal ion transmembrane transporter activity (GO:0046873) 3.713SCNN1G, SCNN1A, SCNN1B
sodium channel activity (GO:0005272) 6.133SCNN1G, SCNN1A, SCNN1B
WW domain binding (GO:0050699) 6.343SCNN1G, SCNN1A, SCNN1B
transporter activity (GO:0005215) 2.573SCNN1G, SCNN1A, SCNN1B
ion channel activity (GO:0005216) 3.713SCNN1G, SCNN1A, SCNN1B
cation transmembrane transporter activity (GO:0008324) 3.323SCNN1G, SCNN1A, SCNN1B
protein domain specific binding (GO:0019904) 3.323SCNN1G, SCNN1A, SCNN1B
substrate-specific transmembrane transporter activity (GO:0022891) 2.93SCNN1G, SCNN1A, SCNN1B
inorganic cation transmembrane transporter activity (GO:0022890) 3.493SCNN1G, SCNN1A, SCNN1B
substrate-specific transporter activity (GO:0022892) 2.723SCNN1G, SCNN1A, SCNN1B
ion transmembrane transporter activity (GO:0015075) 3.043SCNN1G, SCNN1A, SCNN1B
transmembrane transporter activity (GO:0022857) 2.823SCNN1G, SCNN1A, SCNN1B
channel activity (GO:0015267) 3.63SCNN1G, SCNN1A, SCNN1B
gated channel activity (GO:0022836) 3.963SCNN1G, SCNN1A, SCNN1B
protein binding (GO:0005515) 0.463SCNN1G, SCNN1A, SCNN1B
ligand-gated channel activity (GO:0022834) 4.83SCNN1G, SCNN1A, SCNN1B
substrate-specific channel activity (GO:0022838) 3.673SCNN1G, SCNN1A, SCNN1B
transmembrane receptor activity (GO:0099600) 2.533SCNN1G, SCNN1A, SCNN1B
binding (GO:0005488) 0.183SCNN1G, SCNN1A, SCNN1B

NET-GE enrichment

Term New enriched termICP valueGenes
cation channel activity (GO:0005261) -4.040.0SCNN1G, SCNN1A, SCNN1B
ligand-gated sodium channel activity (GO:0015280) -7.540.0SCNN1A, SCNN1B
sodium ion transmembrane transporter activity (GO:0015081) -4.830.0SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.005SCNN1G, SCNN1A, SCNN1B
ligand-gated ion channel activity (GO:0015276) -4.80.006SCNN1A, SCNN1B
passive transmembrane transporter activity (GO:0022803) -3.60.013SCNN1G, SCNN1A, SCNN1B
metal ion transmembrane transporter activity (GO:0046873) -3.710.009SCNN1G, SCNN1A, SCNN1B
ion channel activity (GO:0005216) -3.710.0SCNN1G, SCNN1A, SCNN1B
sodium channel activity (GO:0005272) -6.130.0SCNN1G, SCNN1A, SCNN1B
WW domain binding (GO:0050699) -6.340.0SCNN1G, SCNN1A, SCNN1B
transporter activity (GO:0005215) -2.570.011SCNN1G, SCNN1A, SCNN1B
potassium channel regulator activity (GO:0015459) NEW5.930.006SCNN1G, SCNN1A
cation transmembrane transporter activity (GO:0008324) -3.320.001SCNN1G, SCNN1A, SCNN1B
protein domain specific binding (GO:0019904) -3.320.001SCNN1G, SCNN1A, SCNN1B
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.004SCNN1G, SCNN1A, SCNN1B
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.001SCNN1G, SCNN1A, SCNN1B
substrate-specific transporter activity (GO:0022892) -2.720.006SCNN1G, SCNN1A, SCNN1B
ion transmembrane transporter activity (GO:0015075) -3.040.003SCNN1G, SCNN1A, SCNN1B
transmembrane transporter activity (GO:0022857) -2.820.005SCNN1G, SCNN1A, SCNN1B
channel activity (GO:0015267) -3.60.013SCNN1G, SCNN1A, SCNN1B
gated channel activity (GO:0022836) -3.960.027SCNN1G, SCNN1A, SCNN1B
ligand-gated channel activity (GO:0022834) -4.80.006SCNN1A, SCNN1B
substrate-specific channel activity (GO:0022838) -3.670.0SCNN1G, SCNN1A, SCNN1B
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
ion homeostasis (GO:0050801) 3.423SCNN1G, SCNN1A, SCNN1B
homeostatic process (GO:0042592) 2.613SCNN1G, SCNN1A, SCNN1B
cation homeostasis (GO:0055080) 3.463SCNN1G, SCNN1A, SCNN1B
inorganic ion homeostasis (GO:0098771) 3.433SCNN1G, SCNN1A, SCNN1B
sodium ion homeostasis (GO:0055078) 6.363SCNN1G, SCNN1A, SCNN1B
sensory perception of taste (GO:0050909) 5.783SCNN1G, SCNN1A, SCNN1B
single-organism process (GO:0044699) 0.483SCNN1G, SCNN1A, SCNN1B
transmembrane transport (GO:0055085) 2.723SCNN1G, SCNN1A, SCNN1B
sodium ion transmembrane transport (GO:0035725) 5.233SCNN1G, SCNN1A, SCNN1B
biological regulation (GO:0065007) 0.393SCNN1G, SCNN1A, SCNN1B
inorganic cation transmembrane transport (GO:0098662) 3.553SCNN1G, SCNN1A, SCNN1B
inorganic ion transmembrane transport (GO:0098660) 3.383SCNN1G, SCNN1A, SCNN1B
sensory perception of chemical stimulus (GO:0007606) 3.493SCNN1G, SCNN1A, SCNN1B
regulation of biological quality (GO:0065008) 1.683SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation transport (GO:0015672) 3.743SCNN1G, SCNN1A, SCNN1B
multicellular organismal process (GO:0032501) 1.453SCNN1G, SCNN1A, SCNN1B
regulation of body fluid levels (GO:0050878) 3.763SCNN1G, SCNN1A, SCNN1B
neurological system process (GO:0050877) 2.643SCNN1G, SCNN1A, SCNN1B
ion transport (GO:0006811) 2.663SCNN1G, SCNN1A, SCNN1B
transport (GO:0006810) 1.513SCNN1G, SCNN1A, SCNN1B
sensory perception (GO:0007600) 2.933SCNN1G, SCNN1A, SCNN1B
sodium ion transport (GO:0006814) 4.753SCNN1G, SCNN1A, SCNN1B
ion transmembrane transport (GO:0034220) 3.083SCNN1G, SCNN1A, SCNN1B
metal ion transport (GO:0030001) 3.363SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation homeostasis (GO:0055067) 4.933SCNN1G, SCNN1A, SCNN1B
metal ion homeostasis (GO:0055065) 3.613SCNN1G, SCNN1A, SCNN1B
water homeostasis (GO:0030104) 5.483SCNN1G, SCNN1A, SCNN1B
establishment of localization (GO:0051234) 1.483SCNN1G, SCNN1A, SCNN1B
localization (GO:0051179) 1.43SCNN1G, SCNN1A, SCNN1B
system process (GO:0003008) 2.33SCNN1G, SCNN1A, SCNN1B
multicellular organismal homeostasis (GO:0048871) 5.073SCNN1G, SCNN1A, SCNN1B
single-multicellular organism process (GO:0044707) 1.783SCNN1G, SCNN1A, SCNN1B
response to stimulus (GO:0050896) 1.223SCNN1G, SCNN1A, SCNN1B
multicellular organismal water homeostasis (GO:0050891) 5.73SCNN1G, SCNN1A, SCNN1B
chemical homeostasis (GO:0048878) 2.973SCNN1G, SCNN1A, SCNN1B
cation transport (GO:0006812) 3.113SCNN1G, SCNN1A, SCNN1B
cation transmembrane transport (GO:0098655) 3.433SCNN1G, SCNN1A, SCNN1B
excretion (GO:0007588) 6.042SCNN1G, SCNN1B

NET-GE enrichment

Term New enriched termICP valueGenes
ion homeostasis (GO:0050801) -3.420.001SCNN1G, SCNN1A, SCNN1B
neuronal action potential (GO:0019228) NEW6.40.009SCNN1G, SCNN1A
inorganic ion transmembrane transport (GO:0098660) -3.380.001SCNN1G, SCNN1A, SCNN1B
homeostatic process (GO:0042592) -2.610.008SCNN1G, SCNN1A, SCNN1B
water homeostasis (GO:0030104) -5.480.0SCNN1G, SCNN1A, SCNN1B
regulation of protein catabolic process (GO:0042176) NEW3.830.013SCNN1G, SCNN1A, SCNN1B
regulation of cellular protein catabolic process (GO:1903362) NEW4.230.001SCNN1G, SCNN1A, SCNN1B
sodium ion homeostasis (GO:0055078) -6.360.0SCNN1G, SCNN1A, SCNN1B
sensory perception of taste (GO:0050909) -5.780.0SCNN1G, SCNN1A, SCNN1B
excretion (GO:0007588) -6.040.0SCNN1G, SCNN1A, SCNN1B
sodium ion transmembrane transport (GO:0035725) -5.230.0SCNN1G, SCNN1A, SCNN1B
inorganic cation transmembrane transport (GO:0098662) -3.550.041SCNN1G, SCNN1A, SCNN1B
neurological system process (GO:0050877) -2.640.003SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation transport (GO:0015672) -3.740.0SCNN1G, SCNN1A, SCNN1B
regulation of body fluid levels (GO:0050878) -3.760.001SCNN1G, SCNN1A, SCNN1B
cation transport (GO:0006812) -3.110.004SCNN1G, SCNN1A, SCNN1B
ion transport (GO:0006811) -2.660.014SCNN1G, SCNN1A, SCNN1B
sensory perception of chemical stimulus (GO:0007606) -3.490.0SCNN1G, SCNN1A, SCNN1B
sensory perception (GO:0007600) -2.930.001SCNN1G, SCNN1A, SCNN1B
sodium ion transport (GO:0006814) -4.750.0SCNN1G, SCNN1A, SCNN1B
ion transmembrane transport (GO:0034220) -3.080.003SCNN1G, SCNN1A, SCNN1B
metal ion transport (GO:0030001) -3.360.001SCNN1G, SCNN1A, SCNN1B
monovalent inorganic cation homeostasis (GO:0055067) -4.930.0SCNN1G, SCNN1A, SCNN1B
metal ion homeostasis (GO:0055065) -3.610.047SCNN1G, SCNN1A, SCNN1B
cation homeostasis (GO:0055080) -3.460.001SCNN1G, SCNN1A, SCNN1B
transmembrane transport (GO:0055085) -2.720.011SCNN1G, SCNN1A, SCNN1B
system process (GO:0003008) -2.30.009SCNN1G, SCNN1A, SCNN1B
multicellular organismal water homeostasis (GO:0050891) -5.70.0SCNN1G, SCNN1A, SCNN1B
chemical homeostasis (GO:0048878) -2.970.002SCNN1G, SCNN1A, SCNN1B
cation transmembrane transport (GO:0098655) -3.430.001SCNN1G, SCNN1A, SCNN1B
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.973SCNN1G, SCNN1A, SCNN1B
sodium channel complex (GO:0034706) 6.973SCNN1G, SCNN1A, SCNN1B
ion channel complex (GO:0034702) 4.183SCNN1G, SCNN1A, SCNN1B
cation channel complex (GO:0034703) 4.693SCNN1G, SCNN1A, SCNN1B
intrinsic component of plasma membrane (GO:0031226) 2.533SCNN1G, SCNN1A, SCNN1B
organelle (GO:0043226) 0.43SCNN1G, SCNN1A, SCNN1B
intrinsic component of membrane (GO:0031224) 1.133SCNN1G, SCNN1A, SCNN1B
vesicle (GO:0031982) 1.643SCNN1G, SCNN1A, SCNN1B
membrane-bounded organelle (GO:0043227) 0.473SCNN1G, SCNN1A, SCNN1B
integral component of membrane (GO:0016021) 1.143SCNN1G, SCNN1A, SCNN1B
membrane (GO:0016020) 0.683SCNN1G, SCNN1A, SCNN1B
membrane-bounded vesicle (GO:0031988) 1.713SCNN1G, SCNN1A, SCNN1B
plasma membrane part (GO:0044459) 1.953SCNN1G, SCNN1A, SCNN1B
transmembrane transporter complex (GO:1902495) 4.063SCNN1G, SCNN1A, SCNN1B
apical plasma membrane (GO:0016324) 4.133SCNN1G, SCNN1A, SCNN1B
transporter complex (GO:1990351) 4.043SCNN1G, SCNN1A, SCNN1B
integral component of plasma membrane (GO:0005887) 2.573SCNN1G, SCNN1A, SCNN1B
plasma membrane (GO:0005886) 1.393SCNN1G, SCNN1A, SCNN1B
extracellular organelle (GO:0043230) 1.893SCNN1G, SCNN1A, SCNN1B
extracellular vesicle (GO:1903561) 1.893SCNN1G, SCNN1A, SCNN1B
extracellular exosome (GO:0070062) 1.893SCNN1G, SCNN1A, SCNN1B
protein complex (GO:0043234) 1.513SCNN1G, SCNN1A, SCNN1B
macromolecular complex (GO:0032991) 1.353SCNN1G, SCNN1A, SCNN1B
cell part (GO:0044464) 0.113SCNN1G, SCNN1A, SCNN1B
membrane protein complex (GO:0098796) 2.843SCNN1G, SCNN1A, SCNN1B
membrane part (GO:0044425) 0.953SCNN1G, SCNN1A, SCNN1B
extracellular region part (GO:0044421) 1.573SCNN1G, SCNN1A, SCNN1B
external side of plasma membrane (GO:0009897) 4.462SCNN1G, SCNN1B
organelle membrane (GO:0031090) 1.972SCNN1A, SCNN1B
intracellular organelle part (GO:0044446) 0.812SCNN1A, SCNN1B
cytoplasmic part (GO:0044444) 0.822SCNN1A, SCNN1B
side of membrane (GO:0098552) 4.222SCNN1G, SCNN1B
intracellular part (GO:0044424) 0.282SCNN1A, SCNN1B
organelle part (GO:0044422) 0.792SCNN1A, SCNN1B

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) -2.970.027SCNN1G, SCNN1A, SCNN1B
transmembrane transporter complex (GO:1902495) -4.060.0SCNN1G, SCNN1A, SCNN1B
external side of plasma membrane (GO:0009897) -4.460.003SCNN1G, SCNN1A, SCNN1B
apical plasma membrane (GO:0016324) -4.130.006SCNN1G, SCNN1A, SCNN1B
membrane region (GO:0098589) NEW3.950.017SCNN1G, SCNN1A, SCNN1B
transporter complex (GO:1990351) -4.040.002SCNN1G, SCNN1A, SCNN1B
sodium channel complex (GO:0034706) -6.970.0SCNN1G, SCNN1A, SCNN1B
ion channel complex (GO:0034702) -4.180.001SCNN1G, SCNN1A, SCNN1B
cation channel complex (GO:0034703) -4.690.0SCNN1G, SCNN1A, SCNN1B
integral component of plasma membrane (GO:0005887) -2.570.009SCNN1G, SCNN1A, SCNN1B
side of membrane (GO:0098552) -4.220.0SCNN1G, SCNN1A, SCNN1B