Disease table of JERVELL AND LANGE-NIELSEN SYNDROME 1 OMIM ID: 220400

Gene-disease associations table

GeneAssociated with JERVELL AND LANGE-NIELSEN SYNDROME 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KCNE1ClinVarHGNC link21q22.125612347, 115000, 613035, 220400, PS192500
KCNQ1ClinVar, OMIM, HUMSAVARHGNC link11p15.56115000, 272120, PS609620, PS608583, PS192500, 220400

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
KCNE1KCNQ1Yes0

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
KCNE1KCNQ1yes, complexThey are in interaction. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Adrenergic signaling in cardiomyocyteshsa042615.442KCNQ1, KCNE1

NET-GE enrichment

Term New enriched termICP valueGenes
Circulatory systemNEW4.630.021KCNQ1, KCNE1
Adrenergic signaling in cardiomyocytes (hsa04261) -5.440.019KCNQ1, KCNE1
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
potassium channel activity (GO:0005267) 4.942KCNQ1, KCNE1
cation channel activity (GO:0005261) 4.042KCNQ1, KCNE1
binding (GO:0005488) 0.182KCNQ1, KCNE1
substrate-specific channel activity (GO:0022838) 3.672KCNQ1, KCNE1
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008) 7.792KCNQ1, KCNE1
transmembrane transporter activity (GO:0022857) 2.822KCNQ1, KCNE1
voltage-gated cation channel activity (GO:0022843) 4.832KCNQ1, KCNE1
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282) 8.352KCNQ1, KCNE1
delayed rectifier potassium channel activity (GO:0005251) 6.152KCNQ1, KCNE1
metal ion transmembrane transporter activity (GO:0046873) 3.712KCNQ1, KCNE1
protein binding (GO:0005515) 0.462KCNQ1, KCNE1
transporter activity (GO:0005215) 2.572KCNQ1, KCNE1
ion channel activity (GO:0005216) 3.712KCNQ1, KCNE1
cation transmembrane transporter activity (GO:0008324) 3.322KCNQ1, KCNE1
passive transmembrane transporter activity (GO:0022803) 3.62KCNQ1, KCNE1
substrate-specific transmembrane transporter activity (GO:0022891) 2.92KCNQ1, KCNE1
inorganic cation transmembrane transporter activity (GO:0022890) 3.492KCNQ1, KCNE1
substrate-specific transporter activity (GO:0022892) 2.722KCNQ1, KCNE1
ion transmembrane transporter activity (GO:0015075) 3.042KCNQ1, KCNE1
voltage-gated channel activity (GO:0022832) 4.492KCNQ1, KCNE1
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872KCNQ1, KCNE1
channel activity (GO:0015267) 3.62KCNQ1, KCNE1
gated channel activity (GO:0022836) 3.962KCNQ1, KCNE1
voltage-gated potassium channel activity (GO:0005249) 5.242KCNQ1, KCNE1
voltage-gated ion channel activity (GO:0005244) 4.492KCNQ1, KCNE1
potassium ion transmembrane transporter activity (GO:0015079) 4.772KCNQ1, KCNE1

NET-GE enrichment

Term New enriched termICP valueGenes
potassium channel regulator activity (GO:0015459) NEW5.930.001KCNQ1, KCNE1
channel regulator activity (GO:0016247) NEW4.880.014KCNQ1, KCNE1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of transport (GO:0051049) 2.242KCNQ1, KCNE1
positive regulation of transmembrane transport (GO:0034764) 4.992KCNQ1, KCNE1
regulation of ion transmembrane transport (GO:0034765) 3.772KCNQ1, KCNE1
negative regulation of ion transmembrane transport (GO:0034766) 5.472KCNQ1, KCNE1
positive regulation of ion transmembrane transport (GO:0034767) 5.052KCNQ1, KCNE1
regulation of transmembrane transport (GO:0034762) 3.742KCNQ1, KCNE1
negative regulation of transmembrane transport (GO:0034763) 5.382KCNQ1, KCNE1
cellular response to stimulus (GO:0051716) 1.972KCNQ1, KCNE1
negative regulation of molecular function (GO:0044092) 2.742KCNQ1, KCNE1
positive regulation of biological process (GO:0048518) 1.22KCNQ1, KCNE1
negative regulation of biological process (GO:0048519) 1.332KCNQ1, KCNE1
negative regulation of transport (GO:0051051) 3.62KCNQ1, KCNE1
positive regulation of transport (GO:0051050) 2.92KCNQ1, KCNE1
sensory perception of sound (GO:0007605) 4.822KCNQ1, KCNE1
sensory perception (GO:0007600) 2.932KCNQ1, KCNE1
response to cAMP (GO:0051591) 5.082KCNQ1, KCNE1
regulation of potassium ion transmembrane transport (GO:1901379) 5.622KCNQ1, KCNE1
negative regulation of voltage-gated potassium channel activity (GO:1903817) 7.532KCNQ1, KCNE1
response to organic substance (GO:0010033) 2.22KCNQ1, KCNE1
system process (GO:0003008) 2.32KCNQ1, KCNE1
single organism signaling (GO:0044700) 3.252KCNQ1, KCNE1
single-multicellular organism process (GO:0044707) 1.782KCNQ1, KCNE1
response to organonitrogen compound (GO:0010243) 3.22KCNQ1, KCNE1
cellular response to cAMP (GO:0071320) 5.822KCNQ1, KCNE1
positive regulation of potassium ion transmembrane transport (GO:1901381) 6.432KCNQ1, KCNE1
membrane repolarization during ventricular cardiac muscle cell action potential (GO:0098915) 8.342KCNQ1, KCNE1
regulation of delayed rectifier potassium channel activity (GO:1902259) 6.842KCNQ1, KCNE1
regulation of membrane potential (GO:0042391) 3.892KCNQ1, KCNE1
negative regulation of transporter activity (GO:0032410) 5.592KCNQ1, KCNE1
regulation of ion transmembrane transporter activity (GO:0032412) 4.552KCNQ1, KCNE1
negative regulation of ion transmembrane transporter activity (GO:0032413) 5.742KCNQ1, KCNE1
regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) 6.842KCNQ1, KCNE1
regulation of membrane repolarization (GO:0060306) 6.42KCNQ1, KCNE1
action potential (GO:0001508) 5.422KCNQ1, KCNE1
response to organic cyclic compound (GO:0014070) 3.072KCNQ1, KCNE1
regulation of biological process (GO:0050789) 0.452KCNQ1, KCNE1
biological regulation (GO:0065007) 0.392KCNQ1, KCNE1
inorganic cation transmembrane transport (GO:0098662) 3.552KCNQ1, KCNE1
inorganic ion transmembrane transport (GO:0098660) 3.382KCNQ1, KCNE1
regulation of molecular function (GO:0065009) 1.782KCNQ1, KCNE1
regulation of biological quality (GO:0065008) 1.682KCNQ1, KCNE1
regulation of heart contraction (GO:0008016) 4.352KCNQ1, KCNE1
potassium ion transport (GO:0006813) 4.682KCNQ1, KCNE1
cation transport (GO:0006812) 3.112KCNQ1, KCNE1
ion transport (GO:0006811) 2.662KCNQ1, KCNE1
transport (GO:0006810) 1.512KCNQ1, KCNE1
potassium ion export (GO:0071435) 7.432KCNQ1, KCNE1
regulation of cellular process (GO:0050794) 0.52KCNQ1, KCNE1
cellular potassium ion transport (GO:0071804) 4.792KCNQ1, KCNE1
regulation of blood circulation (GO:1903522) 4.052KCNQ1, KCNE1
regulation of multicellular organismal process (GO:0051239) 1.872KCNQ1, KCNE1
establishment of localization (GO:0051234) 1.482KCNQ1, KCNE1
regulation of system process (GO:0044057) 3.532KCNQ1, KCNE1
regulation of transmembrane transporter activity (GO:0022898) 4.522KCNQ1, KCNE1
response to stimulus (GO:0050896) 1.222KCNQ1, KCNE1
cellular response to nitrogen compound (GO:1901699) 3.792KCNQ1, KCNE1
cardiac muscle cell membrane repolarization (GO:0099622) 7.432KCNQ1, KCNE1
regulation of cardiac muscle cell membrane repolarization (GO:0099623) 6.682KCNQ1, KCNE1
ventricular cardiac muscle cell membrane repolarization (GO:0099625) 8.342KCNQ1, KCNE1
negative regulation of cation channel activity (GO:2001258) 6.262KCNQ1, KCNE1
regulation of cation channel activity (GO:2001257) 5.272KCNQ1, KCNE1
metabolic process (GO:0008152) 0.582KCNQ1, KCNE1
multicellular organismal signaling (GO:0035637) 5.362KCNQ1, KCNE1
signaling (GO:0023052) 3.252KCNQ1, KCNE1
cellular response to chemical stimulus (GO:0070887) 2.572KCNQ1, KCNE1
response to purine-containing compound (GO:0014074) 4.672KCNQ1, KCNE1
single-organism process (GO:0044699) 0.482KCNQ1, KCNE1
response to endogenous stimulus (GO:0009719) 2.792KCNQ1, KCNE1
ventricular cardiac muscle cell action potential (GO:0086005) 7.022KCNQ1, KCNE1
cardiac muscle cell action potential (GO:0086001) 6.332KCNQ1, KCNE1
cardiac muscle cell action potential involved in contraction (GO:0086002) 6.472KCNQ1, KCNE1
potassium ion transmembrane transport (GO:0071805) 4.792KCNQ1, KCNE1
membrane repolarization (GO:0086009) 7.022KCNQ1, KCNE1
regulation of heart rate (GO:0002027) 5.292KCNQ1, KCNE1
regulation of transporter activity (GO:0032409) 4.452KCNQ1, KCNE1
sensory perception of mechanical stimulus (GO:0050954) 4.792KCNQ1, KCNE1
monovalent inorganic cation transport (GO:0015672) 3.742KCNQ1, KCNE1
cellular response to endogenous stimulus (GO:0071495) 3.332KCNQ1, KCNE1
multicellular organismal process (GO:0032501) 1.452KCNQ1, KCNE1
negative regulation of delayed rectifier potassium channel activity (GO:1902260) 7.532KCNQ1, KCNE1
primary metabolic process (GO:0044238) 0.692KCNQ1, KCNE1
neurological system process (GO:0050877) 2.642KCNQ1, KCNE1
cellular process (GO:0009987) 0.262KCNQ1, KCNE1
positive regulation of ion transport (GO:0043270) 4.362KCNQ1, KCNE1
negative regulation of ion transport (GO:0043271) 4.942KCNQ1, KCNE1
metal ion transport (GO:0030001) 3.362KCNQ1, KCNE1
membrane repolarization during cardiac muscle cell action potential (GO:0086013) 7.432KCNQ1, KCNE1
membrane repolarization during action potential (GO:0086011) 7.432KCNQ1, KCNE1
regulation of localization (GO:0032879) 1.942KCNQ1, KCNE1
transmembrane transport (GO:0055085) 2.722KCNQ1, KCNE1
cellular response to organic cyclic compound (GO:0071407) 3.932KCNQ1, KCNE1
positive regulation of cation transmembrane transport (GO:1904064) 5.172KCNQ1, KCNE1
regulation of cation transmembrane transport (GO:1904062) 4.42KCNQ1, KCNE1
negative regulation of cation transmembrane transport (GO:1904063) 5.652KCNQ1, KCNE1
regulation of heart rate by cardiac conduction (GO:0086091) 6.332KCNQ1, KCNE1
response to nitrogen compound (GO:1901698) 3.122KCNQ1, KCNE1
negative regulation of potassium ion transport (GO:0043267) 6.262KCNQ1, KCNE1
regulation of potassium ion transport (GO:0043266) 5.312KCNQ1, KCNE1
cellular metabolic process (GO:0044237) 0.692KCNQ1, KCNE1
regulation of ion transport (GO:0043269) 3.42KCNQ1, KCNE1
positive regulation of potassium ion transport (GO:0043268) 6.092KCNQ1, KCNE1
cellular response to organonitrogen compound (GO:0071417) 3.872KCNQ1, KCNE1
organic substance metabolic process (GO:0071704) 0.632KCNQ1, KCNE1
cellular response to organic substance (GO:0071310) 2.782KCNQ1, KCNE1
negative regulation of potassium ion transmembrane transport (GO:1901380) 6.682KCNQ1, KCNE1
response to organophosphorus (GO:0046683) 4.792KCNQ1, KCNE1
cardiac conduction (GO:0061337) 5.542KCNQ1, KCNE1
regulation of metal ion transport (GO:0010959) 3.942KCNQ1, KCNE1
ion transmembrane transport (GO:0034220) 3.082KCNQ1, KCNE1
single-organism transport (GO:0044765) 2.182KCNQ1, KCNE1
single-organism cellular process (GO:0044763) 0.652KCNQ1, KCNE1
response to chemical (GO:0042221) 1.982KCNQ1, KCNE1
localization (GO:0051179) 1.42KCNQ1, KCNE1
single-organism localization (GO:1902578) 2.092KCNQ1, KCNE1
response to oxygen-containing compound (GO:1901700) 2.572KCNQ1, KCNE1
cellular response to oxygen-containing compound (GO:1901701) 3.222KCNQ1, KCNE1
regulation of potassium ion transmembrane transporter activity (GO:1901016) 6.022KCNQ1, KCNE1
negative regulation of potassium ion transmembrane transporter activity (GO:1901017) 6.962KCNQ1, KCNE1
cation transmembrane transport (GO:0098655) 3.432KCNQ1, KCNE1
negative regulation of cellular process (GO:0048523) 1.412KCNQ1, KCNE1
positive regulation of cellular process (GO:0048522) 1.32KCNQ1, KCNE1

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of membrane potential (GO:0042391) -3.890.036KCNQ1, KCNE1
multicellular organismal signaling (GO:0035637) -5.360.004KCNQ1, KCNE1
regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) -6.840.0KCNQ1, KCNE1
regulation of membrane repolarization (GO:0060306) -6.40.001KCNQ1, KCNE1
positive regulation of transmembrane transport (GO:0034764) -4.990.001KCNQ1, KCNE1
regulation of potassium ion transport (GO:0043266) -5.310.007KCNQ1, KCNE1
action potential (GO:0001508) -5.420.014KCNQ1, KCNE1
response to purine-containing compound (GO:0014074) -4.670.009KCNQ1, KCNE1
positive regulation of ion transmembrane transport (GO:0034767) -5.050.001KCNQ1, KCNE1
positive regulation of potassium ion transport (GO:0043268) -6.090.0KCNQ1, KCNE1
ventricular cardiac muscle cell action potential (GO:0086005) -7.020.0KCNQ1, KCNE1
potassium ion export (GO:0071435) -7.430.0KCNQ1, KCNE1
cardiac muscle cell action potential (GO:0086001) -6.330.001KCNQ1, KCNE1
cardiac muscle cell action potential involved in contraction (GO:0086002) -6.470.001KCNQ1, KCNE1
potassium ion transmembrane transport (GO:0071805) -4.790.009KCNQ1, KCNE1
membrane repolarization (GO:0086009) -7.020.0KCNQ1, KCNE1
potassium ion transport (GO:0006813) -4.680.013KCNQ1, KCNE1
response to organophosphorus (GO:0046683) -4.790.007KCNQ1, KCNE1
cardiac conduction (GO:0061337) -5.540.0KCNQ1, KCNE1
sensory perception of sound (GO:0007605) -4.820.008KCNQ1, KCNE1
sensory perception of mechanical stimulus (GO:0050954) -4.790.009KCNQ1, KCNE1
regulation of heart contraction (GO:0008016) -4.350.01KCNQ1, KCNE1
positive regulation of ion transport (GO:0043270) -4.360.013KCNQ1, KCNE1
response to cAMP (GO:0051591) -5.080.004KCNQ1, KCNE1
regulation of potassium ion transmembrane transport (GO:1901379) -5.620.0KCNQ1, KCNE1
membrane repolarization during cardiac muscle cell action potential (GO:0086013) -7.430.0KCNQ1, KCNE1
membrane repolarization during action potential (GO:0086011) -7.430.0KCNQ1, KCNE1
regulation of heart rate (GO:0002027) -5.290.003KCNQ1, KCNE1
regulation of metal ion transport (GO:0010959) -3.940.032KCNQ1, KCNE1
cellular potassium ion transport (GO:0071804) -4.790.009KCNQ1, KCNE1
cellular response to organic cyclic compound (GO:0071407) -3.930.047KCNQ1, KCNE1
cellular response to cAMP (GO:0071320) -5.820.008KCNQ1, KCNE1
regulation of potassium ion transmembrane transporter activity (GO:1901016) -6.020.001KCNQ1, KCNE1
positive regulation of potassium ion transmembrane transport (GO:1901381) -6.430.0KCNQ1, KCNE1
regulation of heart rate by cardiac conduction (GO:0086091) -6.330.0KCNQ1, KCNE1
regulation of delayed rectifier potassium channel activity (GO:1902259) -6.840.0KCNQ1, KCNE1
regulation of cation channel activity (GO:2001257) -5.270.015KCNQ1, KCNE1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972KCNQ1, KCNE1
lytic vacuole (GO:0000323) 3.892KCNQ1, KCNE1
intracellular organelle (GO:0043229) 0.512KCNQ1, KCNE1
potassium channel complex (GO:0034705) 5.322KCNQ1, KCNE1
ion channel complex (GO:0034702) 4.182KCNQ1, KCNE1
cation channel complex (GO:0034703) 4.692KCNQ1, KCNE1
membrane-bounded organelle (GO:0043227) 0.472KCNQ1, KCNE1
organelle (GO:0043226) 0.42KCNQ1, KCNE1
intrinsic component of membrane (GO:0031224) 1.132KCNQ1, KCNE1
plasma membrane protein complex (GO:0098797) 3.552KCNQ1, KCNE1
vacuole (GO:0005773) 2.922KCNQ1, KCNE1
integral component of membrane (GO:0016021) 1.142KCNQ1, KCNE1
membrane (GO:0016020) 0.682KCNQ1, KCNE1
plasma membrane part (GO:0044459) 1.952KCNQ1, KCNE1
transmembrane transporter complex (GO:1902495) 4.062KCNQ1, KCNE1
membrane region (GO:0098589) 3.952KCNQ1, KCNE1
transporter complex (GO:1990351) 4.042KCNQ1, KCNE1
voltage-gated potassium channel complex (GO:0008076) 5.342KCNQ1, KCNE1
plasma membrane (GO:0005886) 1.392KCNQ1, KCNE1
protein complex (GO:0043234) 1.512KCNQ1, KCNE1
macromolecular complex (GO:0032991) 1.352KCNQ1, KCNE1
intracellular membrane-bounded organelle (GO:0043231) 0.62KCNQ1, KCNE1
membrane raft (GO:0045121) 4.182KCNQ1, KCNE1
cell part (GO:0044464) 0.112KCNQ1, KCNE1
lysosome (GO:0005764) 3.892KCNQ1, KCNE1
membrane protein complex (GO:0098796) 2.842KCNQ1, KCNE1
cytoplasmic part (GO:0044444) 0.822KCNQ1, KCNE1
intracellular part (GO:0044424) 0.282KCNQ1, KCNE1
membrane part (GO:0044425) 0.952KCNQ1, KCNE1
membrane microdomain (GO:0098857) 4.172KCNQ1, KCNE1
organelle part (GO:0044422) 0.792KCNQ1, KCNE1

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) -4.060.01KCNQ1, KCNE1
vacuole (GO:0005773) -2.920.007KCNQ1, KCNE1
transporter complex (GO:1990351) -4.040.01KCNQ1, KCNE1
voltage-gated potassium channel complex (GO:0008076) -5.340.001KCNQ1, KCNE1
lysosome (GO:0005764) -3.890.006KCNQ1, KCNE1
potassium channel complex (GO:0034705) -5.320.003KCNQ1, KCNE1
ion channel complex (GO:0034702) -4.180.043KCNQ1, KCNE1
cation channel complex (GO:0034703) -4.690.012KCNQ1, KCNE1
lytic vacuole (GO:0000323) -3.890.006KCNQ1, KCNE1
Z disc (GO:0030018) NEW5.110.013KCNQ1, KCNE1
contractile fiber part (GO:0044449) NEW4.530.038KCNQ1, KCNE1