Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionmetal ion transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

5.48e-124652611GO:0046873
GeneOntologyMolecularFunctionmonoatomic cation channel activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2

8.17e-123432610GO:0005261
GeneOntologyMolecularFunctioninorganic cation transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

1.35e-106272611GO:0022890
GeneOntologyMolecularFunctionmonoatomic ion channel activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2

1.43e-104592610GO:0005216
GeneOntologyMolecularFunctionmonoatomic cation transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

2.48e-106642611GO:0008324
GeneOntologyMolecularFunctionchannel activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2

5.28e-105252610GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2

5.37e-105262610GO:0022803
GeneOntologyMolecularFunctioninorganic molecular entity transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

1.01e-097582611GO:0015318
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

1.62e-097932611GO:0015075
GeneOntologyMolecularFunctiontransmembrane transporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 SLC27A6 KCNH2 SLC6A14

7.65e-0911802612GO:0022857
GeneOntologyMolecularFunctioncalcium channel activity

PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1

1.34e-08129266GO:0005262
GeneOntologyMolecularFunctiontransporter activity

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1 SLC27A6 KCNH2 SLC6A14

2.06e-0812892612GO:0005215
GeneOntologyMolecularFunctioncalcium ion transmembrane transporter activity

PSEN1 PKD2L2 SLC24A4 P2RX4 CATSPER2 SLC24A1

3.44e-08151266GO:0015085
GeneOntologyMolecularFunctionpotassium ion transmembrane transporter activity

KCNK5 KCNH6 KCNH7 SLC24A4 SLC24A1 KCNH2

6.27e-08167266GO:0015079
GeneOntologyMolecularFunctionligand-gated monoatomic cation channel activity

KCNH6 KCNH7 P2RX4 CATSPER2 KCNH2

9.21e-07140265GO:0099094
GeneOntologyMolecularFunctionvoltage-gated monoatomic cation channel activity

KCNK5 KCNH6 KCNH7 CATSPER2 KCNH2

1.38e-06152265GO:0022843
GeneOntologyMolecularFunctionvoltage-gated monoatomic ion channel activity

KCNK5 KCNH6 KCNH7 CATSPER2 KCNH2

3.35e-06182265GO:0005244
GeneOntologyMolecularFunctionvoltage-gated channel activity

KCNK5 KCNH6 KCNH7 CATSPER2 KCNH2

3.54e-06184265GO:0022832
GeneOntologyMolecularFunctiongated channel activity

KCNK5 KCNH6 KCNH7 P2RX4 CATSPER2 KCNH2

3.63e-06334266GO:0022836
GeneOntologyMolecularFunctionligand-gated monoatomic ion channel activity

KCNH6 KCNH7 P2RX4 CATSPER2 KCNH2

4.47e-06193265GO:0015276
GeneOntologyMolecularFunctionligand-gated channel activity

KCNH6 KCNH7 P2RX4 CATSPER2 KCNH2

4.94e-06197265GO:0022834
GeneOntologyMolecularFunctioninward rectifier potassium channel activity

KCNH6 KCNH7 KCNH2

6.28e-0628263GO:0005242
GeneOntologyMolecularFunctionvoltage-gated potassium channel activity

KCNK5 KCNH6 KCNH7 KCNH2

8.80e-06102264GO:0005249
GeneOntologyMolecularFunctioncalcium, potassium:sodium antiporter activity

SLC24A4 SLC24A1

1.63e-055262GO:0008273
GeneOntologyMolecularFunctionpotassium channel activity

KCNK5 KCNH6 KCNH7 KCNH2

2.16e-05128264GO:0005267
GeneOntologyMolecularFunctionaspartic endopeptidase activity, intramembrane cleaving

PSEN1 PSEN2

4.54e-058262GO:0042500
GeneOntologyMolecularFunctioncalcium:sodium antiporter activity

SLC24A4 SLC24A1

7.29e-0510262GO:0005432
GeneOntologyMolecularFunctioncalcium:monoatomic cation antiporter activity

SLC24A4 SLC24A1

1.26e-0413262GO:0015368
GeneOntologyMolecularFunctionsolute:potassium antiporter activity

SLC24A4 SLC24A1

2.75e-0419262GO:0022821
GeneOntologyMolecularFunctionsymporter activity

SLC24A4 SLC24A1 SLC6A14

9.52e-04150263GO:0015293
GeneOntologyMolecularFunctionaspartic-type endopeptidase activity

PSEN1 PSEN2

1.06e-0337262GO:0004190
GeneOntologyMolecularFunctionaspartic-type peptidase activity

PSEN1 PSEN2

1.11e-0338262GO:0070001
GeneOntologyMolecularFunctionsodium ion transmembrane transporter activity

SLC24A4 SLC24A1 SLC6A14

1.39e-03171263GO:0015081
GeneOntologyMolecularFunctionmetal cation:monoatomic cation antiporter activity

SLC24A4 SLC24A1

1.42e-0343262GO:0140828
GeneOntologyMolecularFunctionsecondary active transmembrane transporter activity

SLC24A4 SLC24A1 SLC6A14

6.51e-03296263GO:0015291
GeneOntologyMolecularFunctionactive monoatomic ion transmembrane transporter activity

SLC24A4 SLC24A1 SLC6A14

6.82e-03301263GO:0022853
GeneOntologyMolecularFunctionantiporter activity

SLC24A4 SLC24A1

1.38e-02138262GO:0015297
GeneOntologyMolecularFunctionendopeptidase activity

CAPN8 PSEN1 PSEN2

1.79e-02430263GO:0004175
GeneOntologyBiologicalProcessinorganic cation transmembrane transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

3.21e-109222612GO:0098662
GeneOntologyBiologicalProcessmonoatomic cation transmembrane transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

4.10e-109422612GO:0098655
GeneOntologyBiologicalProcessmetal ion transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

8.12e-1010002612GO:0030001
GeneOntologyBiologicalProcessinorganic ion transmembrane transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

9.85e-1010172612GO:0098660
GeneOntologyBiologicalProcessmonoatomic ion transmembrane transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

2.80e-0911152612GO:0034220
GeneOntologyBiologicalProcessmonoatomic cation transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

4.26e-0911572612GO:0006812
GeneOntologyBiologicalProcessmonoatomic ion transport

KCNK5 KCNH6 KCNH7 PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1 KCNH2 SLC6A14

2.93e-0813742612GO:0006811
GeneOntologyBiologicalProcessimport across plasma membrane

KCNK5 PSEN1 SLC24A4 SLC24A1 KCNH2 SLC6A14

3.44e-07230266GO:0098739
GeneOntologyBiologicalProcesspotassium ion transmembrane transport

KCNK5 KCNH6 KCNH7 SLC24A4 SLC24A1 KCNH2

3.62e-07232266GO:0071805
GeneOntologyBiologicalProcesscalcium ion transmembrane transport

PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1

4.09e-07392267GO:0070588
GeneOntologyBiologicalProcesspotassium ion transport

KCNK5 KCNH6 KCNH7 SLC24A4 SLC24A1 KCNH2

9.18e-07272266GO:0006813
GeneOntologyBiologicalProcesscalcium ion transport

PSEN1 PKD2L2 PSEN2 SLC24A4 P2RX4 CATSPER2 SLC24A1

2.34e-06509267GO:0006816
GeneOntologyBiologicalProcessregulation of membrane potential

KCNK5 KCNH6 KCNH7 PSEN1 SLC24A4 P2RX4 KCNH2

4.35e-06559267GO:0042391
GeneOntologyBiologicalProcessprotein catabolic process at postsynapse

PSEN1 PSEN2

9.15e-064262GO:0140249
GeneOntologyBiologicalProcessprotein catabolic process at synapse

PSEN1 PSEN2

2.28e-056262GO:0140246
GeneOntologyBiologicalProcessinorganic ion import across plasma membrane

KCNK5 SLC24A4 SLC24A1 KCNH2

2.86e-05142264GO:0099587
GeneOntologyBiologicalProcessinorganic cation import across plasma membrane

KCNK5 SLC24A4 SLC24A1 KCNH2

2.86e-05142264GO:0098659
GeneOntologyBiologicalProcessembryonic limb morphogenesis

GDF5 PSEN1 PSEN2 CPLANE1

3.37e-05148264GO:0030326
GeneOntologyBiologicalProcessembryonic appendage morphogenesis

GDF5 PSEN1 PSEN2 CPLANE1

3.37e-05148264GO:0035113
GeneOntologyBiologicalProcessmembrane repolarization

KCNH6 SLC24A4 KCNH2

4.72e-0556263GO:0086009
GeneOntologyBiologicalProcessNotch receptor processing

PSEN1 PSEN2

6.83e-0510262GO:0007220
GeneOntologyBiologicalProcessappendage morphogenesis

GDF5 PSEN1 PSEN2 CPLANE1

8.03e-05185264GO:0035107
GeneOntologyBiologicalProcesslimb morphogenesis

GDF5 PSEN1 PSEN2 CPLANE1

8.03e-05185264GO:0035108
GeneOntologyBiologicalProcessregulation of resting membrane potential

KCNK5 PSEN1

8.35e-0511262GO:0060075
GeneOntologyBiologicalProcessskin morphogenesis

PSEN1 PSEN2

1.59e-0415262GO:0043589
GeneOntologyBiologicalProcessnegative regulation of epidermal growth factor-activated receptor activity

PSEN1 PSEN2

1.59e-0415262GO:0007175
GeneOntologyBiologicalProcesslimb development

GDF5 PSEN1 PSEN2 CPLANE1

1.68e-04224264GO:0060173
GeneOntologyBiologicalProcessappendage development

GDF5 PSEN1 PSEN2 CPLANE1

1.68e-04224264GO:0048736
GeneOntologyBiologicalProcessanagen

PSEN1 PSEN2

1.81e-0416262GO:0042640
GeneOntologyBiologicalProcessmonoatomic cation homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 KCNH2 DMXL1

2.00e-04705266GO:0055080
GeneOntologyBiologicalProcessexport across plasma membrane

KCNK5 SLC24A4 KCNH2

2.01e-0491263GO:0140115
GeneOntologyBiologicalProcessresponse to light intensity

SLC24A4 SLC24A1

2.05e-0417262GO:0009642
GeneOntologyBiologicalProcessmonoatomic ion homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 KCNH2 DMXL1

2.19e-04717266GO:0050801
GeneOntologyBiologicalProcessnegative regulation of ubiquitin-protein transferase activity

PSEN1 PSEN2

2.31e-0418262GO:0051444
GeneOntologyBiologicalProcesspositive regulation of receptor recycling

PSEN1 PSEN2

2.31e-0418262GO:0001921
GeneOntologyBiologicalProcessneuroinflammatory response

POMT2 PSEN1 PSEN2

2.73e-04101263GO:0150076
GeneOntologyBiologicalProcessimport into cell

KCNK5 PSEN1 SLC24A4 SLC24A1 SLC27A6 KCNH2 SLC6A14

2.80e-041074267GO:0098657
GeneOntologyBiologicalProcesspotassium ion export across plasma membrane

KCNK5 KCNH2

3.16e-0421262GO:0097623
GeneOntologyBiologicalProcessregulation of epidermal growth factor-activated receptor activity

PSEN1 PSEN2

3.48e-0422262GO:0007176
GeneOntologyBiologicalProcesssodium ion transport

SLC24A4 P2RX4 SLC24A1 SLC6A14

3.67e-04275264GO:0006814
GeneOntologyBiologicalProcesshair cycle phase

PSEN1 PSEN2

3.80e-0423262GO:0044851
GeneOntologyBiologicalProcessorganic anion transport

PSEN1 P2RX4 SLC27A6 G6PC1 SLC6A14

4.05e-04515265GO:0015711
GeneOntologyBiologicalProcessexport from cell

KCNK5 PSEN1 SLC24A4 P2RX4 OTOF F2RL2 KCNH2

4.31e-041153267GO:0140352
GeneOntologyBiologicalProcessregulation of ventricular cardiac muscle cell membrane repolarization

KCNH6 KCNH2

4.50e-0425262GO:0060307
GeneOntologyBiologicalProcessdorsal/ventral neural tube patterning

PSEN1 PSEN2

4.50e-0425262GO:0021904
GeneOntologyBiologicalProcessheart contraction

KCNH6 PSEN2 P2RX4 KCNH2

4.97e-04298264GO:0060047
GeneOntologyBiologicalProcessmembrane repolarization during cardiac muscle cell action potential

KCNH6 KCNH2

5.26e-0427262GO:0086013
GeneOntologyBiologicalProcessheart process

KCNH6 PSEN2 P2RX4 KCNH2

5.69e-04309264GO:0003015
GeneOntologyBiologicalProcesshair follicle maturation

PSEN1 PSEN2

6.07e-0429262GO:0048820
GeneOntologyBiologicalProcessendoplasmic reticulum calcium ion homeostasis

PSEN1 PSEN2

6.07e-0429262GO:0032469
GeneOntologyBiologicalProcessventricular cardiac muscle cell membrane repolarization

KCNH6 KCNH2

6.50e-0430262GO:0099625
GeneOntologyBiologicalProcessregulation of cardiac muscle cell membrane repolarization

KCNH6 KCNH2

6.50e-0430262GO:0099623
GeneOntologyBiologicalProcessnegative regulation of protein tyrosine kinase activity

PSEN1 PSEN2

6.50e-0430262GO:0061099
GeneOntologyBiologicalProcessmembrane repolarization during action potential

KCNH6 KCNH2

6.95e-0431262GO:0086011
GeneOntologyBiologicalProcessregulation of receptor recycling

PSEN1 PSEN2

6.95e-0431262GO:0001919
GeneOntologyBiologicalProcesschemical homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 G6PC1 KCNH2 DMXL1

6.97e-041249267GO:0048878
GeneOntologyBiologicalProcessnegative regulation of epidermal growth factor receptor signaling pathway

PSEN1 PSEN2

7.40e-0432262GO:0042059
GeneOntologyBiologicalProcessnegative regulation of signaling receptor activity

PSEN1 PSEN2

7.88e-0433262GO:2000272
GeneOntologyBiologicalProcesspositive regulation of coagulation

PSEN1 PSEN2

8.36e-0434262GO:0050820
GeneOntologyBiologicalProcessintracellular monoatomic cation homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 DMXL1

8.81e-04611265GO:0030003
GeneOntologyBiologicalProcessanatomical structure maturation

PSEN1 PSEN2 SLC24A4 CATSPER2

9.46e-04354264GO:0071695
GeneOntologyBiologicalProcessintracellular monoatomic ion homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 DMXL1

9.54e-04622265GO:0006873
GeneOntologyBiologicalProcessinorganic ion homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1 KCNH2

9.54e-04622265GO:0098771
GeneOntologyBiologicalProcessnegative regulation of ERBB signaling pathway

PSEN1 PSEN2

9.90e-0437262GO:1901185
GeneOntologyBiologicalProcessintracellular calcium ion homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1

9.97e-04359264GO:0006874
GeneOntologyBiologicalProcesscardiac muscle contraction

PSEN2 P2RX4 KCNH2

1.18e-03167263GO:0060048
GeneOntologyBiologicalProcesscardiac muscle cell membrane repolarization

KCNH6 KCNH2

1.22e-0341262GO:0099622
GeneOntologyBiologicalProcessregulation of heart rate by cardiac conduction

KCNH6 KCNH2

1.22e-0341262GO:0086091
GeneOntologyBiologicalProcessregulation of membrane repolarization

KCNH6 KCNH2

1.22e-0341262GO:0060306
GeneOntologyBiologicalProcesscalcium ion homeostasis

PSEN1 PSEN2 SLC24A4 SLC24A1

1.34e-03389264GO:0055074
GeneOntologyBiologicalProcessneural tube patterning

PSEN1 PSEN2

1.46e-0345262GO:0021532
GeneOntologyBiologicalProcesscarboxylic acid transport

PSEN1 P2RX4 SLC27A6 SLC6A14

1.63e-03410264GO:0046942
GeneOntologyBiologicalProcessorganic acid transport

PSEN1 P2RX4 SLC27A6 SLC6A14

1.66e-03412264GO:0015849
GeneOntologyBiologicalProcessregulation of ubiquitin-protein transferase activity

PSEN1 PSEN2

1.66e-0348262GO:0051438
GeneOntologyBiologicalProcesscalcium ion import across plasma membrane

SLC24A4 SLC24A1

1.66e-0348262GO:0098703
GeneOntologyBiologicalProcesscalcium ion import into cytosol

SLC24A4 SLC24A1

1.66e-0348262GO:1902656
GeneOntologyBiologicalProcessbrain morphogenesis

PSEN1 PSEN2

1.73e-0349262GO:0048854
GeneOntologyBiologicalProcesspotassium ion import across plasma membrane

KCNK5 KCNH2

1.88e-0351262GO:1990573
GeneOntologyBiologicalProcessaction potential

KCNH6 P2RX4 KCNH2

2.01e-03201263GO:0001508
GeneOntologyBiologicalProcessmembrane protein ectodomain proteolysis

PSEN1 PSEN2

2.02e-0353262GO:0006509
GeneOntologyBiologicalProcessbiological phase

PSEN1 PSEN2

2.02e-0353262GO:0044848
GeneOntologyBiologicalProcessdevelopmental maturation

PSEN1 PSEN2 SLC24A4 CATSPER2

2.09e-03439264GO:0021700
GeneOntologyBiologicalProcessreceptor recycling

PSEN1 PSEN2

2.18e-0355262GO:0001881
GeneOntologyBiologicalProcesssodium ion transmembrane transport

SLC24A4 SLC24A1 SLC6A14

2.21e-03208263GO:0035725
GeneOntologyBiologicalProcessamino acid import across plasma membrane

PSEN1 SLC6A14

2.42e-0358262GO:0089718
GeneOntologyBiologicalProcessstriated muscle contraction

PSEN2 P2RX4 KCNH2

2.50e-03217263GO:0006941
GeneOntologyBiologicalProcesscalcium ion transmembrane import into cytosol

SLC24A4 P2RX4 SLC24A1

2.50e-03217263GO:0097553
GeneOntologyBiologicalProcessamyloid-beta formation

PSEN1 PSEN2

2.50e-0359262GO:0034205
GeneOntologyBiologicalProcessnegative regulation of peptidyl-tyrosine phosphorylation

PSEN1 PSEN2

2.50e-0359262GO:0050732
GeneOntologyBiologicalProcessnegative regulation of ubiquitin-dependent protein catabolic process

PSEN1 PSEN2

2.67e-0361262GO:2000059
GeneOntologyBiologicalProcessthymus development

PSEN1 PSEN2

2.67e-0361262GO:0048538
GeneOntologyBiologicalProcesspositive regulation of organic acid transport

PSEN1 P2RX4

2.85e-0363262GO:0032892
GeneOntologyBiologicalProcessmembrane protein proteolysis

PSEN1 PSEN2

2.94e-0364262GO:0033619
GeneOntologyBiologicalProcessamyloid-beta metabolic process

PSEN1 PSEN2

3.40e-0369262GO:0050435
GeneOntologyBiologicalProcessregulation of protein tyrosine kinase activity

PSEN1 PSEN2

3.40e-0369262GO:0061097
GeneOntologyCellularComponentgamma-secretase complex

PSEN1 PSEN2

5.36e-057342GO:0070765
GeneOntologyCellularComponentmonoatomic ion channel complex

KCNK5 KCNH6 KCNH7 CATSPER2 KCNH2

3.40e-04378345GO:0034702
HumanPhenoSemantic dementia

PSEN1 PSEN2

1.06e-047122HP:0030219
HumanPhenoFinger agnosia

PSEN1 PSEN2

1.06e-047122HP:0010525
HumanPhenoAbnormal atrioventricular conduction

POMT2 PSEN1 PSEN2 KCNH2

1.76e-04131124HP:0005150
HumanPhenoAtrioventricular nodal disease

POMT2 PSEN1 PSEN2 KCNH2

1.76e-04131124HP:0005142
HumanPhenoAnomic aphasia

PSEN1 PSEN2

1.81e-049122HP:0030784
HumanPhenoDeposits immunoreactive to beta-amyloid protein

PSEN1 PSEN2

1.81e-049122HP:0003791
HumanPhenoAlzheimer disease

PSEN1 PSEN2

1.81e-049122HP:0002511
HumanPhenoHeart block

POMT2 PSEN1 PSEN2 KCNH2

2.04e-04136124HP:0012722
HumanPhenoSenile plaques

PSEN1 PSEN2

2.77e-0411122HP:0100256
HumanPhenoFibular aplasia

GDF5 CPLANE1

2.77e-0411122HP:0002990
DomainK_chnl_volt-dep_ERG

KCNH6 KCNH7 KCNH2

3.37e-093293IPR003967
DomainPAS_9

KCNH6 KCNH7 KCNH2

4.01e-0710293PF13426
DomainNPIP

NPIPB3 NPIPB5 NPIPB13

1.21e-0614293IPR009443
DomainK_chnl_volt-dep_EAG/ELK/ERG

KCNH6 KCNH7 KCNH2

1.21e-0614293IPR003938
DomainPeptidase_A22A

PSEN1 PSEN2

2.33e-062292IPR001108
DomainPresenilin

PSEN1 PSEN2

2.33e-062292PF01080
DomainPAS-assoc_C

KCNH6 KCNH7 KCNH2

6.66e-0624293IPR000700
DomainPAC

KCNH6 KCNH7 KCNH2

8.54e-0626293IPR001610
DomainPAC

KCNH6 KCNH7 KCNH2

8.54e-0626293SM00086
DomainPAC

KCNH6 KCNH7 KCNH2

8.54e-0626293PS50113
DomainCNMP_BINDING_1

KCNH6 KCNH7 KCNH2

1.62e-0532293PS00888
DomainCNMP_BINDING_2

KCNH6 KCNH7 KCNH2

1.62e-0532293PS00889
DomaincNMP

KCNH6 KCNH7 KCNH2

1.95e-0534293SM00100
DomainPAS

KCNH6 KCNH7 KCNH2

1.95e-0534293IPR000014
DomainPAS

KCNH6 KCNH7 KCNH2

1.95e-0534293PS50112
DomaincNMP_binding

KCNH6 KCNH7 KCNH2

1.95e-0534293PF00027
DomaincNMP-bd_dom

KCNH6 KCNH7 KCNH2

2.13e-0535293IPR000595
DomainCNMP_BINDING_3

KCNH6 KCNH7 KCNH2

2.13e-0535293PS50042
DomainK/Na/Ca-exchanger

SLC24A4 SLC24A1

2.32e-055292IPR004481
DomaincNMP-bd-like

KCNH6 KCNH7 KCNH2

2.74e-0538293IPR018490
DomainIon_trans_dom

KCNH6 KCNH7 CATSPER2 KCNH2

2.78e-05114294IPR005821
DomainIon_trans

KCNH6 KCNH7 CATSPER2 KCNH2

2.78e-05114294PF00520
DomainPreselin/SPP

PSEN1 PSEN2

4.87e-057292IPR006639
DomainPSN

PSEN1 PSEN2

4.87e-057292SM00730
Domain-

KCNH6 KCNH7 KCNH2

5.55e-05482932.60.120.10
DomainRmlC-like_jellyroll

KCNH6 KCNH7 KCNH2

6.67e-0551293IPR014710
DomainNa_Ca_ex

SLC24A4 SLC24A1

8.32e-059292PF01699
DomainNaCa_Exmemb

SLC24A4 SLC24A1

8.32e-059292IPR004837
DomainPAS

KCNH6 KCNH2

6.83e-0425292PF00989
DomainPAS_fold

KCNH6 KCNH2

6.83e-0425292IPR013767
DomainPAS

KCNH7 KCNH2

1.12e-0332292SM00091
PathwayREACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS

KCNH6 KCNH7 KCNH2

4.43e-0541243MM14546
PathwayREACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS

KCNH6 KCNH7 KCNH2

5.12e-0543243M1056
PathwayREACTOME_NONCANONICAL_ACTIVATION_OF_NOTCH3

PSEN1 PSEN2

7.73e-058242M27887
PathwayREACTOME_NOTCH4_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS

PSEN1 PSEN2

1.51e-0411242M27882
PathwayREACTOME_SODIUM_CALCIUM_EXCHANGERS

SLC24A4 SLC24A1

1.51e-0411242M27336
PathwayREACTOME_TGFBR3_PTM_REGULATION

PSEN1 PSEN2

1.51e-0411242M48251
PathwayKEGG_MEDICUS_REFERENCE_NOTCH_PROTEOLYTIC_ACTIVATION

PSEN1 PSEN2

1.51e-0411242M47865
PathwayWP_INCLUSION_BODY_MYOSITIS

PSEN1 PSEN2

1.51e-0411242M42545
PathwayREACTOME_REGULATED_PROTEOLYSIS_OF_P75NTR

PSEN1 PSEN2

1.51e-0411242M2661
PathwayREACTOME_DISORDERS_OF_TRANSMEMBRANE_TRANSPORTERS

PSME4 SLC24A4 SLC24A1 SLC6A14

2.10e-04177244M27476
PathwayREACTOME_SODIUM_CALCIUM_EXCHANGERS

SLC24A4 SLC24A1

2.14e-0413242MM15078
PathwayKEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABERRANT_PSEN_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY

PSEN1 PSEN2

3.29e-0416242M47695
PathwayREACTOME_NRIF_SIGNALS_CELL_DEATH_FROM_THE_NUCLEUS

PSEN1 PSEN2

3.29e-0416242M7257
PathwayREACTOME_POTASSIUM_CHANNELS

KCNH6 KCNH7 KCNH2

5.93e-0498243MM14545
PathwayREACTOME_SLC_TRANSPORTER_DISORDERS

SLC24A4 SLC24A1 SLC6A14

6.11e-0499243M27474
PathwayREACTOME_NOTCH2_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS

PSEN1 PSEN2

6.28e-0422242M27210
PathwayREACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT

SLC24A4 SLC24A1 SLC27A6 SLC6A14

6.45e-04238244MM15076
PathwayREACTOME_POTASSIUM_CHANNELS

KCNH6 KCNH7 KCNH2

6.86e-04103243M1073
PathwayREACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT

SLC24A4 SLC24A1 SLC27A6 SLC6A14

7.64e-04249244M5988
PathwayREACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES

SLC24A4 SLC24A1 SLC6A14

7.87e-04108243M823
PathwayREACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES

SLC24A4 SLC24A1 SLC6A14

8.09e-04109243MM15074
PathwayREACTOME_NOTCH3_ACTIVATION_AND_TRANSMISSION_OF_SIGNAL_TO_THE_NUCLEUS

PSEN1 PSEN2

8.14e-0425242M27879
PathwayWP_CANONICAL_AND_NONCANONICAL_NOTCH_SIGNALING

PSEN1 PSEN2

9.50e-0427242M39545
PathwayREACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS

PSEN1 PSEN2

1.25e-0331242M592
PathwayREACTOME_NUCLEAR_SIGNALING_BY_ERBB4

PSEN1 PSEN2

1.34e-0332242M571
PathwayREACTOME_SIGNALING_BY_NOTCH2

PSEN1 PSEN2

1.42e-0333242M604
PathwayWP_NOTCH_SIGNALING_WP268

PSEN1 PSEN2

2.63e-0345242M39571
PathwayWP_NOTCH_SIGNALING_PATHWAY

PSEN1 PSEN2

2.75e-0346242MM15971
PathwayKEGG_NOTCH_SIGNALING_PATHWAY

PSEN1 PSEN2

2.87e-0347242M7946
PathwayREACTOME_SIGNALING_BY_TGFBR3

PSEN1 PSEN2

3.11e-0349242M48250
PathwayWP_TROP2_REGULATORY_SIGNALING

PSEN1 PSEN2

3.11e-0349242M46458
PathwayREACTOME_SIGNALING_BY_NOTCH3

PSEN1 PSEN2

3.11e-0349242M618
PathwayREACTOME_EPH_EPHRIN_MEDIATED_REPULSION_OF_CELLS

PSEN1 PSEN2

3.37e-0351242M27311
PathwayBIOCARTA_HIVNEF_PATHWAY

PSEN1 PSEN2

4.04e-0356242MM1406
PathwayBIOCARTA_HIVNEF_PATHWAY

PSEN1 PSEN2

4.04e-0356242M13968
PathwayREACTOME_SIGNALING_BY_ERBB4

PSEN1 PSEN2

4.33e-0358242M544
PathwayREACTOME_SIGNALING_BY_NOTCH1_PEST_DOMAIN_MUTANTS_IN_CANCER

PSEN1 PSEN2

4.33e-0358242M29616
Pubmed

Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome.

KCNH6 KCNH7 KCNH2

7.78e-10333335818223
Pubmed

Developmentally regulated expression of the mouse homologues of the potassium channel encoding genes m-erg1, m-erg2 and m-erg3.

KCNH6 KCNH7 KCNH2

7.78e-10333314643686
Pubmed

HERG K(+) currents in human prolactin-secreting adenoma cells.

KCNH6 KCNH7 KCNH2

7.78e-10333312634931
Pubmed

Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate.

KCNH6 KCNH7 KCNH2

9.30e-081033326503718
Pubmed

Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.

KCNK5 KCNH6 KCNH7 P2RX4 KCNH2

2.06e-0713933516985003
Pubmed

Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.

PSEN1 PSEN2

8.73e-07233221285369
Pubmed

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

PSEN1 PSEN2

8.73e-07233233973882
Pubmed

Novel role of presenilins in maturation and transport of integrin beta 1.

PSEN1 PSEN2

8.73e-07233218293935
Pubmed

gamma-Secretase complexes containing N- and C-terminal fragments of different presenilin origin retain normal gamma-secretase activity.

PSEN1 PSEN2

8.73e-07233216135086
Pubmed

Presenilin-1 mutations sensitize neurons to DNA damage-induced death by a mechanism involving perturbed calcium homeostasis and activation of calpains and caspase-12.

PSEN1 PSEN2

8.73e-07233212460542
Pubmed

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo.

PSEN1 PSEN2

8.73e-0723328755489
Pubmed

Alzheimer's Disease Associated Presenilin 1 and 2 Genes Dysregulation in Neonatal Lymphocytes Following Perinatal Asphyxia.

PSEN1 PSEN2

8.73e-07233234067945
Pubmed

Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.

PSEN1 PSEN2

8.73e-07233237864790
Pubmed

Posttranslational modification and plasma membrane localization of the Drosophila melanogaster presenilin.

PSEN1 PSEN2

8.73e-07233210662508
Pubmed

Noncognitive species-typical and home-cage behavioral alterations in conditional presenilin 1/presenilin 2 double knockout mice.

PSEN1 PSEN2

8.73e-07233234758364
Pubmed

Ibuprofen partially attenuates neurodegenerative symptoms in presenilin conditional double-knockout mice.

PSEN1 PSEN2

8.73e-07233224699228
Pubmed

Presenilins regulate synaptic plasticity in the perforant pathways of the hippocampus.

PSEN1 PSEN2

8.73e-07233236710361
Pubmed

A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis.

PSEN1 PSEN2

8.73e-07233214566063
Pubmed

Presenilin 1 and 2 are expressed differentially in the cerebral cortex of mice during development.

PSEN1 PSEN2

8.73e-07233222796216
Pubmed

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.

PSEN1 PSEN2

8.73e-0723329073509
Pubmed

Calorie restriction ameliorates neurodegenerative phenotypes in forebrain-specific presenilin-1 and presenilin-2 double knockout mice.

PSEN1 PSEN2

8.73e-07233217499883
Pubmed

Binding of transcription factors to Presenilin 1 and 2 promoter cis-acting elements varies during the development of mouse cerebral cortex.

PSEN1 PSEN2

8.73e-07233227177724
Pubmed

Endogenous beta-amyloid production in presenilin-deficient embryonic mouse fibroblasts.

PSEN1 PSEN2

8.73e-07233211715026
Pubmed

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

PSEN1 PSEN2

8.73e-07233234102969
Pubmed

Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.

PSEN1 PSEN2

8.73e-07233232556937
Pubmed

Presenilin-directed inhibitors of gamma-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells.

PSEN1 PSEN2

8.73e-07233215287885
Pubmed

Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.

PSEN1 PSEN2

8.73e-07233224704512
Pubmed

Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity.

PSEN1 PSEN2

8.73e-07233234662541
Pubmed

A sequence within the first transmembrane domain of PEN-2 is critical for PEN-2-mediated endoproteolysis of presenilin 1.

PSEN1 PSEN2

8.73e-07233215537629
Pubmed

Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.

PSEN1 PSEN2

8.73e-07233210518543
Pubmed

Histone Deacetylase Inhibitor Alleviates the Neurodegenerative Phenotypes and Histone Dysregulation in Presenilins-Deficient Mice.

PSEN1 PSEN2

8.73e-07233229867447
Pubmed

MicroRNA Profiling in Aging Brain of PSEN1/PSEN2 Double Knockout Mice.

PSEN1 PSEN2

8.73e-07233228879407
Pubmed

Presenilins mutated at Asp-257 or Asp-385 restore Pen-2 expression and Nicastrin glycosylation but remain catalytically inactive in the absence of wild type Presenilin.

PSEN1 PSEN2

8.73e-07233212885769
Pubmed

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

PSEN1 PSEN2

8.73e-07233218350357
Pubmed

Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.

PSEN1 PSEN2

8.73e-07233216620965
Pubmed

Dysregulation of hypoxia-inducible factor by presenilin/γ-secretase loss-of-function mutations.

PSEN1 PSEN2

8.73e-07233223365231
Pubmed

Changes in cholesterol metabolism are associated with PS1 and PS2 gene regulation in SK-N-BE.

PSEN1 PSEN2

8.73e-07233217401156
Pubmed

Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the γ-secretase subunit presenilin.

PSEN1 PSEN2

8.73e-07233236944398
Pubmed

Ibuprofen rescues abnormalities in periodontal tissues in conditional presenilin 1 and presenilin 2 double knockout mice.

PSEN1 PSEN2

8.73e-07233224018889
Pubmed

Age and sex dependent alteration in presenilin expression in mouse cerebral cortex.

PSEN1 PSEN2

8.73e-07233217874292
Pubmed

Role of presenilins in neuronal calcium homeostasis.

PSEN1 PSEN2

8.73e-07233220573903
Pubmed

Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks.

PSEN1 PSEN2

8.73e-07233232992716
Pubmed

Two homologous genes causing early-onset familial Alzheimer's disease.

PSEN1 PSEN2

8.73e-0723329246482
Pubmed

A {gamma}-secretase-independent mechanism of signal transduction by the amyloid precursor protein.

PSEN1 PSEN2

8.73e-07233216103124
Pubmed

Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2.

PSEN1 PSEN2

8.73e-07233232420742
Pubmed

Impaired default network functional connectivity in autosomal dominant Alzheimer disease.

PSEN1 PSEN2

8.73e-07233223884042
Pubmed

Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.

PSEN1 PSEN2

8.73e-07233212817569
Pubmed

Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

PSEN1 PSEN2

8.73e-07233228106563
Pubmed

Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.

PSEN1 PSEN2

8.73e-07233217268505
Pubmed

Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro.

PSEN1 PSEN2

8.73e-07233233413468
Pubmed

Individual and combined presenilin 1 and 2 knockouts reveal that both have highly overlapping functions in HEK293T cells.

PSEN1 PSEN2

8.73e-07233231167792
Pubmed

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

PSEN1 PSEN2

8.73e-0723327651536
Pubmed

Guizhi Fuling capsule relieves memory deficits by inhibition of microglial neuroinflammation through blocking JAK2/STAT3 pathway in presenilin1/2 conditional double knockout mice.

PSEN1 PSEN2

8.73e-07233237465679
Pubmed

Trans-cinnamaldehyde improves neuroinflammation-mediated NMDA receptor dysfunction and memory deficits through blocking NF-κB pathway in presenilin1/2 conditional double knockout mice.

PSEN1 PSEN2

8.73e-07233231376499
Pubmed

Presenilin regulates extracellular regulated kinase (Erk) activity by a protein kinase C alpha dependent mechanism.

PSEN1 PSEN2

8.73e-07233218367332
Pubmed

Dimorphic effects of Notch signaling in bone homeostasis.

PSEN1 PSEN2

8.73e-07233218297084
Pubmed

Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice.

PSEN1 PSEN2

8.73e-07233215128703
Pubmed

Endoproteolysis of presenilin in vitro: inhibition by gamma-secretase inhibitors.

PSEN1 PSEN2

8.73e-07233211876645
Pubmed

Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex.

PSEN1 PSEN2

8.73e-07233225429133
Pubmed

Presenilin is necessary for efficient proteolysis through the autophagy-lysosome system in a γ-secretase-independent manner.

PSEN1 PSEN2

8.73e-07233221414900
Pubmed

Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization.

PSEN1 PSEN2

8.73e-07233221914807
Pubmed

Ether-à-go-go-related gene K+ channels contribute to threshold excitability of mouse auditory brainstem neurons.

KCNH7 KCNH2

8.73e-07233219359372
Pubmed

Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.

PSEN1 PSEN2

8.73e-07233229078389
Pubmed

Environment enrichment rescues the neurodegenerative phenotypes in presenilins-deficient mice.

PSEN1 PSEN2

8.73e-07233217614943
Pubmed

Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria.

PSEN1 PSEN2

8.73e-07233219834068
Pubmed

Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.

PSEN1 PSEN2

8.73e-07233225323700
Pubmed

Genetic dissection of gamma-secretase-dependent and -independent functions of presenilin in regulating neuronal cell cycle and cell death.

PSEN1 PSEN2

8.73e-07233218971484
Pubmed

Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.

PSEN1 PSEN2

8.73e-07233238227890
Pubmed

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

PSEN1 PSEN2

8.73e-07233231182772
Pubmed

Inactivation of presenilins causes pre-synaptic impairment prior to post-synaptic dysfunction.

PSEN1 PSEN2

8.73e-07233220854432
Pubmed

Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes.

PSEN1 PSEN2

8.73e-07233217560791
Pubmed

Epigenetic regulation of presenilin 1 and 2 in the cerebral cortex of mice during development.

PSEN1 PSEN2

8.73e-07233225652771
Pubmed

Alpha7 nicotinic acetylcholine receptor agonist PHA-543613 improves memory deficits in presenilin 1 and presenilin 2 conditional double knockout mice.

PSEN1 PSEN2

8.73e-07233236370840
Pubmed

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

PSEN1 PSEN2

8.73e-07233222503161
Pubmed

PSEN1 and PSEN2 gene expression in Alzheimer's disease brain: a new approach.

PSEN1 PSEN2

8.73e-07233224927704
Pubmed

Age-related neuropsychiatric symptoms in presenilins conditional double knockout mice.

PSEN1 PSEN2

8.73e-07233223792007
Pubmed

Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels.

PSEN1 PSEN2

8.73e-07233222311977
Pubmed

Abnormalities in periodontal and salivary tissues in conditional presenilin 1 and presenilin 2 double knockout mice.

PSEN1 PSEN2

8.73e-07233220953898
Pubmed

Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice.

PSEN1 PSEN2

8.73e-07233218834536
Pubmed

Loss of presenilin function enhances tau phosphorylation and aggregation in mice.

PSEN1 PSEN2

8.73e-07233234593029
Pubmed

Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities.

PSEN1 PSEN2

8.73e-07233212684521
Pubmed

Loss of Spatial Memory, Learning, and Motor Function During Normal Aging Is Accompanied by Changes in Brain Presenilin 1 and 2 Expression Levels.

PSEN1 PSEN2

8.73e-07233225204494
Pubmed

Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules.

PSEN1 PSEN2

8.73e-07233211987239
Pubmed

Specificity of presenilin-1- and presenilin-2-dependent γ-secretases towards substrate processing.

PSEN1 PSEN2

8.73e-07233228994238
Pubmed

Adult neurogenesis is functionally associated with AD-like neurodegeneration.

PSEN1 PSEN2

8.73e-07233217980611
Pubmed

Phenylpiperidine-type γ-secretase modulators target the transmembrane domain 1 of presenilin 1.

PSEN1 PSEN2

8.73e-07233222002539
Pubmed

Presenilins mediate phosphatidylinositol 3-kinase/AKT and ERK activation via select signaling receptors. Selectivity of PS2 in platelet-derived growth factor signaling.

PSEN1 PSEN2

8.73e-07233216014629
Pubmed

Increased inflammatory response both in brain and in periphery in presenilin 1 and presenilin 2 conditional double knock-out mice.

PSEN1 PSEN2

8.73e-07233219584449
Pubmed

Enhanced ROS generation mediated by Alzheimer's disease presenilin regulation of InsP3R Ca2+ signaling.

PSEN1 PSEN2

8.73e-07233220701429
Pubmed

Presence of presenilin 1/2 affects the invasion and replication of Salmonella typhimurium.

PSEN1 PSEN2

8.73e-07233215922300
Pubmed

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.

PSEN1 PSEN2

8.73e-07233235949106
Pubmed

Presenilins regulate synaptic plasticity and mitochondrial calcium homeostasis in the hippocampal mossy fiber pathway.

PSEN1 PSEN2

8.73e-07233228619096
Pubmed

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

PSEN1 PSEN2

8.73e-0723328574969
Pubmed

Enhanced oxidative stress is an early event during development of Alzheimer-like pathologies in presenilin conditional knock-out mice.

PSEN1 PSEN2

8.73e-07233218539391
Pubmed

Presenilin mutations in Alzheimer's disease.

PSEN1 PSEN2

8.73e-0723329521418
Pubmed

Biology of presenilins as causative molecules for Alzheimer disease.

PSEN1 PSEN2

8.73e-07233210361981
Pubmed

In vitro characterization of the presenilin-dependent gamma-secretase complex using a novel affinity ligand.

PSEN1 PSEN2

8.73e-07233212846562
Pubmed

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.

PSEN1 PSEN2

8.73e-0723329450754
Pubmed

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.

PSEN1 PSEN2

8.73e-07233222505025
Pubmed

Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation.

PSEN1 PSEN2

8.73e-0723329298903
Cytoband16p12.2

NPIPB3 NPIPB4 NPIPB5

2.83e-063734316p12.2
CytobandEnsembl 112 genes in cytogenetic band chr16p12

NPIPB3 NPIPB4 NPIPB5

2.84e-04172343chr16p12
Cytoband16p11.2

NPIPB13 NPIPB12 NPIPB11

3.86e-0419134316p11.2
CytobandEnsembl 112 genes in cytogenetic band chr16p11

NPIPB13 NPIPB12 NPIPB11

1.14e-03278343chr16p11
CytobandEnsembl 112 genes in cytogenetic band chr5q23

SLC27A6 DMXL1

3.43e-03117342chr5q23
CytobandEnsembl 112 genes in cytogenetic band chr14q24

POMT2 PSEN1

9.67e-03200342chr14q24
GeneFamilyPotassium voltage-gated channels

KCNH6 KCNH7 KCNH2

1.30e-0540213274
GeneFamilySolute carriers

SLC24A4 SLC24A1 SLC27A6 SLC6A14

1.00e-03395214752
CoexpressionJINESH_BLEBBISHIELD_TRANSFORMED_STEM_CELL_SPHERES_DN

KCNH6 NPIPB3 CATSPER2 NPIPB13 NPIPB12 NPIPB11

2.28e-06302346M38975
CoexpressionJINESH_BLEBBISHIELD_VS_LIVE_CONTROL_UP

KCNH6 NPIPB3 CATSPER2 NPIPB13 NPIPB12 NPIPB11

8.52e-06380346M38974
CoexpressionJOHNSTONE_PARVB_TARGETS_1_DN

NPIPB4 NPIPB13 DMXL1

7.87e-0564343M2237
ToppCellPBMC-Control-Myeloid-Neutrophil-Neutrophil-|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

PKD2L2 CPLANE1 F2RL2 NPIPB11

6.57e-0616034470f3637dd0bcfcef421aa114f946fff0048f192e
DrugMK-499

KCNK5 KCNH6 KCNH7 KCNH2

1.07e-0819314CID000127718
DrugDoxazosin

KCNH6 KCNH7 KCNH2

4.56e-086313DB00590
DrugPrazosin

KCNH6 KCNH7 KCNH2

4.56e-086313DB00457
DrugTerazosin

KCNH6 KCNH7 KCNH2

4.56e-086313DB01162
DrugMiconazole

KCNH6 KCNH7 KCNH2

1.27e-078313DB01110
DrugIbutilide

KCNH6 KCNH7 KCNH2

2.72e-0710313DB00308
DrugWAY-123,398

KCNH6 KCNH7 KCNH2

2.72e-0710313CID000132160
DrugS-182

PSEN1 PSEN2

1.79e-062312CID003033995
DrugN-(1-(2,3-dimethoxyphenyl)-4-methyl-3-penten-1-yl)-1-(5-bromofurfuryl)-1-piperidyl-4-amine

KCNH6 KCNH2

1.79e-062312ctd:C531033
DrugHdba

KCNH6 KCNH7 KCNH2

2.18e-0619313CID000003896
Drugclofilium

KCNK5 KCNH6 KCNH7 KCNH2

3.03e-0674314CID000002798
Drugether-a

KCNH6 KCNH7 KCNH2

3.46e-0622313CID000501025
DrugNS1643

KCNH6 KCNH2

1.07e-054312CID010177784
Drugmethanethiosulfonate

KCNH6 KCNH7 P2RX4 KCNH2

1.13e-05103314CID004188587
DrugXE991

KCNH6 KCNH7 KCNH2

1.21e-0533313CID000656732
Drugdiazoxide

KCNK5 KCNH6 KCNH7 G6PC1 KCNH2

1.30e-05227315CID000003019
Drugreazide

PSEN1 PSEN2

1.79e-055312CID000008820
DrugmM Q

KCNH6 KCNH7 KCNH2

2.35e-0541313CID000445446
Drugniflumic acid

KCNK5 KCNH6 KCNH7 KCNH2

2.43e-05125314CID000004488
Druglinopirdine

KCNH6 KCNH7 KCNH2

2.72e-0543313CID000003932
Drugsodium

KCNK5 KCNH6 KCNH7 SLC24A4 P2RX4 SLC24A1 KCNH2 SLC6A14

2.86e-05944318CID000000923
Drugastemizole

KCNH6 KCNH7 KCNH2

3.12e-0545313CID000002247
DrugCsCl

PKD2L2 SLC24A4 SLC24A1 KCNH2

3.38e-05136314CID000024293
Drugsertindole

KCNH6 KCNH7 KCNH2

4.29e-0550313CID000060149
Drugtime t

PSEN1 PSEN2 G6PC1

5.11e-0553313CID000004790
Drugziprasidone

KCNH6 KCNH7 KCNH2

5.11e-0553313CID000060853
DrugE 4031

KCNH6 KCNH7 KCNH2

5.41e-0554313CID000003184
DrugW-A-Y

KCNH6 KCNH7 KCNH2

6.03e-0556313CID000004368
Drugquetiapine

KCNH6 KCNH7 KCNH2

6.36e-0557313CID000005002
Drugterfenadine

KCNH6 KCNH7 KCNH2

7.80e-0561313CID000005405
Drugmethylglucamine

SLC24A4 P2RX4 SLC24A1

8.19e-0562313CID000004049
Drugdofetilide

KCNH6 KCNH7 KCNH2

8.59e-0563313CID000071329
Drughydroxyethylene dipeptide isostere

PSEN1 PSEN2

9.79e-0511312CID005479484
Drugcarbanilide

KCNH6 KCNH2

9.79e-0511312CID000007595
DrugL-364,373

PSEN1 PSEN2

1.17e-0412312CID000656755
DrugExiproben

PSEN1 PSEN2

1.17e-0412312CID000018995
DrugImidurea [39236-46-9]; Up 200; 10.4uM; MCF7; HT_HG-U133A

KCNK5 KCNH6 SLC24A1 KCNH2

1.37e-041953143522_UP
DrugAC1L9QP0

PSEN1 PSEN2

1.39e-0413312CID000453015
DrugNSC 670881

PSEN1 PSEN2

1.39e-0413312CID000060874
DrugAC1L6KTW

KCNH6 KCNH7 KCNH2

1.39e-0474313CID000247705
DrugRubidium chromate

SLC24A4 P2RX4 KCNH2

1.39e-0474313CID000061605
DrugRifampicin [13292-46-1]; Up 200; 4.8uM; MCF7; HT_HG-U133A

PSEN2 CATSPER2 SLC24A1 KCNH2

1.40e-041963142847_UP
DrugPhenelzine sulfate [156-51-4]; Down 200; 17uM; MCF7; HT_HG-U133A

KCNK5 PSEN2 KCNH2 SLC6A14

1.42e-041973143884_DN
DrugGentamicine sulfate [1405-41-0]; Up 200; 2.6uM; PC3; HT_HG-U133A

KCNH6 PKD2L2 CPLANE1 SLC24A1

1.42e-041973145883_UP
DrugHarmaline hydrochloride dihydrate [6027-98-1]; Up 200; 14uM; MCF7; HT_HG-U133A

POMT2 KCNK5 SLC24A1 KCNH2

1.42e-041973144968_UP
DrugCeftazidime pentahydrate [78439-06-2]; Up 200; 6.2uM; PC3; HT_HG-U133A

POMT2 GDF5 CATSPER2 CPLANE1

1.42e-041973145054_UP
Drugestradiol, USP; Down 200; 0.01uM; MCF7; HT_HG-U133A

POMT2 PSEN2 SLC24A1 KCNH2

1.48e-041993145601_DN
Drugpisatin

KCNH7 KCNH2

1.62e-0414312CID000101689
Drugmatrine

CATSPER2 KCNH2

1.62e-0414312ctd:C034244
Drugthioridazine

KCNH6 KCNH7 KCNH2

1.68e-0479313CID000005452
Drug77 B

PSEN1 PSEN2

2.41e-0417312CID005494400
Drug3-(1H-pyrrole-2-carboxylate

PSEN1 SLC24A4 SLC24A1 KCNH2

2.71e-04233314CID000005114
DrugP-F-H

PSEN1 PSEN2

3.02e-0419312CID000053657
DrugLeu-asp-val

PSEN1 PSEN2

3.36e-0420312CID000130816
Drugpotassium

KCNK5 KCNH6 KCNH7 SLC24A4 P2RX4 SLC24A1 KCNH2

3.37e-041008317CID000000813
Drugitraconazole oral solution

KCNH6 KCNH7 PSEN2

3.48e-04101313CID000003793
Drugpyraclofos

KCNH6 KCNH7 KCNH2

4.01e-04106313CID000093460
DrugAC1NDOB4

POMT2 PSEN1

4.46e-0423312CID004629010
Drugcisapride

KCNH6 KCNH7 KCNH2

4.71e-04112313CID000002769
Drugether

KCNH6 KCNH7 KCNH2

4.84e-04113313CID000003283
DrugAd41

PSEN1 PSEN2

5.28e-0425312CID000073551
Drugpimozide

KCNH6 KCNH7 KCNH2

6.80e-04127313CID000016362
Drugolanzapine

KCNH6 KCNH7 KCNH2

7.11e-04129313CID000004585
Drugpiperidine

KCNH6 KCNH7 KCNH2

7.27e-04130313CID000008082
Drugrisperidone

KCNH6 KCNH7 KCNH2

8.29e-04136313CID000005073
Drugamiloride

PKD2L2 SLC24A4 P2RX4 SLC24A1

8.42e-04315314CID000016230
Druglithium aluminum hydride

PSEN1 PKD2L2 PSEN2 SLC24A1

8.93e-04320314CID000028112
Drugchromanol 293B

KCNK5 KCNH2

9.23e-0433312CID000121846
Drugropinirole

GDF5 KCNH2

9.23e-0433312CID000005095
DrugCID5311039

KCNH6 KCNH7

1.04e-0335312CID005311039
Drugbarium

KCNK5 PKD2L2 KCNH2

1.06e-03148313CID000104810
DrugAC1NDT8A

SLC24A4 SLC24A1

1.16e-0337312CID004631218
DrugAC1L1JOI

PSEN1 PSEN2

1.16e-0337312CID000005135
DrugCHAPSO

PSEN1 PSEN2

1.22e-0338312CID000122145
DrugLIGA20

SLC24A4 SLC24A1

1.29e-0339312CID006441213
DrugIl 10

PSEN1 PSEN2

1.36e-0340312CID000146070
Diseaseheart conduction disease (implicated_via_orthology)

KCNK5 KCNH6 KCNH7 KCNH2

3.06e-0832304DOID:10273 (implicated_via_orthology)
Diseaselong QT syndrome (implicated_via_orthology)

KCNH6 KCNH7 KCNH2

1.13e-0710303DOID:2843 (implicated_via_orthology)
DiseaseAlzheimer's disease 3 (implicated_via_orthology)

PSEN1 PSEN2

9.99e-072302DOID:0110042 (implicated_via_orthology)
Diseaseshort QT syndrome (implicated_via_orthology)

KCNH6 KCNH2

3.00e-063302DOID:0050793 (implicated_via_orthology)
Diseaseearly-onset Parkinson's disease (implicated_via_orthology)

PSEN1 PSEN2

1.50e-056302DOID:0060894 (implicated_via_orthology)
DiseaseAsphyxia Neonatorum

PSEN1 PSEN2

1.50e-056302C0004045
DiseaseEarly-onset autosomal dominant Alzheimer disease

PSEN1 PSEN2

2.09e-057302cv:CN043596
Diseaseepilepsy (implicated_via_orthology)

KCNH6 KCNH7 SLC24A4 KCNH2

2.20e-05163304DOID:1826 (implicated_via_orthology)
DiseaseAlzheimer disease

PSEN1 PSEN2

2.79e-058302cv:C0002395
Diseaseatrial fibrillation

PKD2L2 SLC24A4 SLC27A6 KCNH2

5.20e-04371304EFO_0000275
DiseasePrimary dilated cardiomyopathy

PSEN1 PSEN2

5.49e-0434302cv:C0007193
DiseaseDuchenne muscular dystrophy (implicated_via_orthology)

CAPN8 SLC6A14

6.16e-0436302DOID:11723 (implicated_via_orthology)
Diseasebody weights and measures

GDF5 KCNH2

6.87e-0438302EFO_0004324
DiseaseFamilial dilated cardiomyopathy

PSEN1 PSEN2

9.21e-0444302C0340427

Protein segments in the cluster

PeptideGeneStartEntry
WFILLIFILEILLKW

CATSPER2

151

Q96P56
KTLWLKIQKYLEIYW

CAPN8

601

A6NHC0
KIDLAYIWEEWPLLI

DMXL1

1016

Q9Y485
IVWWEGLVLIILYVF

SLC24A4

226

Q8NFF2
YKVVITLWIVYLWVS

NPIPB3

71

Q92617
QLLILAYVIGWVFVW

P2RX4

36

Q99571
YKVVITLWIVYLWVS

NPIPB12

71

F8W0I5
LLTFLLWYLAWLDLE

GDF5

6

P43026
LWYLAWLDLEFICTV

GDF5

11

P43026
IAWWESLLLLLAYAF

SLC24A1

581

O60721
FKAVWDWLILLLVIY

KCNH7

406

Q9NS40
FKAVWDWLILLLVIY

KCNH2

406

Q12809
KAVWDWLILLLVIYT

KCNH6

256

Q9H252
FVELWIYLGLAWLSL

KCNK5

226

O95279
YKVVITLWIVYLWVS

NPIPB5

71

A8MRT5
YKVVITLWIVYLWVS

NPIPB4

71

C9JG80
WLWYVKASLLILVIF

F2RL2

296

O00254
YKVVITLWIVYLWVS

NPIPB11

71

E5RHQ5
RVVELSYWEWLPLLK

FASTKD5

731

Q7L8L6
LILWRILYKKTLWYQ

CPLANE1

766

Q9H799
EAELLWEVYLVLWAV

C7orf61

151

Q8IZ16
VIGDWLNLVFKWILF

G6PC1

66

P35575
YFLWHTYRWLLLKLL

OTOF

1956

Q9HC10
YKVVITLWIVYLWVS

NPIPB13

71

A6NJU9
WCLFWATVLLLIIYL

RTP1

241

P59025
VVWWLNLLSIALYLL

POMT2

596

Q9UKY4
VFIKYLPEWTAWLIL

PSEN1

236

P49768
LMLEAAYKLLWLLLW

SMIM40

46

Q5STR5
HLWYIWLLVVIGALL

TMEM52B

41

Q4KMG9
LVFIKYLPEWSAWVI

PSEN2

241

P49810
YFKSIWNWLELLLLL

PKD2L2

311

Q9NZM6
FKLWFDELIGLWVSV

PSME4

231

Q14997
IYFVSLLAPWLEFWK

XKR3

271

Q5GH77
YFWDDFWFVLKVVLI

SLC27A6

26

Q9Y2P4
VWYLALCLLLAWLIV

SLC6A14

236

Q9UN76
EIRWLLIVYAVLITW

TSPAN19

81

P0C672