KCNQ2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.38506301
2synaptic vesicle maturation (GO:0016188)6.12628608
3locomotory exploration behavior (GO:0035641)6.11769001
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.97032984
5vocalization behavior (GO:0071625)5.70349412
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.57035390
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.57006742
8synaptic vesicle exocytosis (GO:0016079)5.25346822
9regulation of glutamate receptor signaling pathway (GO:1900449)5.25013941
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.11962909
11ionotropic glutamate receptor signaling pathway (GO:0035235)5.01275036
12glutamate secretion (GO:0014047)4.99872961
13regulation of synaptic vesicle exocytosis (GO:2000300)4.91613868
14protein localization to synapse (GO:0035418)4.82822328
15regulation of neuronal synaptic plasticity (GO:0048168)4.80477034
16cerebellar granule cell differentiation (GO:0021707)4.78609483
17regulation of synapse structural plasticity (GO:0051823)4.76970664
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.74805120
19exploration behavior (GO:0035640)4.74673894
20synaptic transmission, glutamatergic (GO:0035249)4.49162606
21neurotransmitter secretion (GO:0007269)4.46636821
22regulation of synaptic vesicle transport (GO:1902803)4.45065096
23L-amino acid import (GO:0043092)4.42213247
24dendritic spine morphogenesis (GO:0060997)4.41183461
25neuron cell-cell adhesion (GO:0007158)4.40325306
26neuronal action potential propagation (GO:0019227)4.38688456
27layer formation in cerebral cortex (GO:0021819)4.35630785
28glutamate receptor signaling pathway (GO:0007215)4.30359828
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.26378598
30neurotransmitter-gated ion channel clustering (GO:0072578)4.23775855
31regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.19672129
32neuron-neuron synaptic transmission (GO:0007270)4.18769177
33long-term memory (GO:0007616)4.15392812
34membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.09977520
35gamma-aminobutyric acid transport (GO:0015812)4.04462488
36amino acid import (GO:0043090)4.03239631
37positive regulation of membrane potential (GO:0045838)3.98314409
38regulation of excitatory postsynaptic membrane potential (GO:0060079)3.97425031
39regulation of dendritic spine morphogenesis (GO:0061001)3.89603770
40presynaptic membrane assembly (GO:0097105)3.85785790
41proline transport (GO:0015824)3.83450911
42axon ensheathment in central nervous system (GO:0032291)3.82836732
43central nervous system myelination (GO:0022010)3.82836732
44presynaptic membrane organization (GO:0097090)3.82038938
45potassium ion homeostasis (GO:0055075)3.79427345
46regulation of postsynaptic membrane potential (GO:0060078)3.76695872
47auditory behavior (GO:0031223)3.73890129
48regulation of synaptic plasticity (GO:0048167)3.72977743
49cellular potassium ion homeostasis (GO:0030007)3.72507283
50positive regulation of synapse maturation (GO:0090129)3.72290618
51neuromuscular process controlling balance (GO:0050885)3.71828509
52regulation of synapse maturation (GO:0090128)3.67598809
53neuron recognition (GO:0008038)3.66747472
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.64473910
55positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.61826934
56positive regulation of synaptic transmission, GABAergic (GO:0032230)3.60873285
57prepulse inhibition (GO:0060134)3.59573010
58neurotransmitter transport (GO:0006836)3.58727297
59potassium ion import (GO:0010107)3.58512462
60regulation of voltage-gated calcium channel activity (GO:1901385)3.57698039
61activation of protein kinase A activity (GO:0034199)3.53503110
62negative regulation of dendrite morphogenesis (GO:0050774)3.49959473
63positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.48658945
64response to auditory stimulus (GO:0010996)3.48590638
65neuromuscular synaptic transmission (GO:0007274)3.48090472
66regulation of synaptic transmission, glutamatergic (GO:0051966)3.48038252
67establishment of mitochondrion localization (GO:0051654)3.46322295
68axonal fasciculation (GO:0007413)3.44725298
69sodium ion export (GO:0071436)3.44697410
70cerebellar Purkinje cell differentiation (GO:0021702)3.43919656
71positive regulation of neurotransmitter secretion (GO:0001956)3.43245582
72regulation of neurotransmitter secretion (GO:0046928)3.41477192
73positive regulation of neurotransmitter transport (GO:0051590)3.41084744
74synaptic vesicle endocytosis (GO:0048488)3.39903047
75dendrite morphogenesis (GO:0048813)3.39147558
76G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.38145130
77neuronal ion channel clustering (GO:0045161)3.38070525
78regulation of neurotransmitter levels (GO:0001505)3.36459804
79long-term synaptic potentiation (GO:0060291)3.35320339
80membrane depolarization during action potential (GO:0086010)3.29295894
81postsynaptic membrane organization (GO:0001941)3.28585213
82membrane depolarization (GO:0051899)3.28342452
83cellular sodium ion homeostasis (GO:0006883)3.27922932
84dendritic spine organization (GO:0097061)3.24798613
85membrane hyperpolarization (GO:0060081)3.24260452
86neuromuscular process controlling posture (GO:0050884)3.24177358
87glycine transport (GO:0015816)3.23970499
88regulation of dendritic spine development (GO:0060998)3.23944353
89gamma-aminobutyric acid signaling pathway (GO:0007214)3.22210325
90cell differentiation in hindbrain (GO:0021533)3.21777361
91positive regulation of dendritic spine development (GO:0060999)3.21513456
92* transmission of nerve impulse (GO:0019226)3.21215878
93behavioral defense response (GO:0002209)3.20973972
94behavioral fear response (GO:0001662)3.20973972
95regulation of neurotransmitter transport (GO:0051588)3.20234044
96cell communication by electrical coupling (GO:0010644)3.19738290
97regulation of vesicle fusion (GO:0031338)3.19329866
98negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.18085161
99learning (GO:0007612)3.17860931
100cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16218611
101positive regulation of dendritic spine morphogenesis (GO:0061003)3.13406894
102cerebellar Purkinje cell layer development (GO:0021680)3.12865327
103vesicle transport along microtubule (GO:0047496)3.12548531
104regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.09590864
105mechanosensory behavior (GO:0007638)3.08508550
106G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.08313394
107acidic amino acid transport (GO:0015800)3.08126144
108neuromuscular process (GO:0050905)3.07414484
109positive regulation of synaptic transmission (GO:0050806)3.07031177
110social behavior (GO:0035176)3.06514325
111intraspecies interaction between organisms (GO:0051703)3.06514325
112positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.06204817
113response to histamine (GO:0034776)3.04694898
114negative regulation of synaptic transmission, GABAergic (GO:0032229)3.04122474
115regulation of synaptic transmission (GO:0050804)3.03560137
116* synaptic transmission (GO:0007268)3.01907599
117cell migration in hindbrain (GO:0021535)3.01499537
118regulation of ARF protein signal transduction (GO:0032012)3.01462028
119synapse assembly (GO:0007416)3.01119700
120innervation (GO:0060384)3.01017272
121synaptic vesicle transport (GO:0048489)3.00647313
122establishment of synaptic vesicle localization (GO:0097480)3.00647313
123adult walking behavior (GO:0007628)2.98560184

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.51295082
2GBX2_23144817_ChIP-Seq_PC3_Human3.40565202
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12862588
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07018432
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01016769
6* RARB_27405468_Chip-Seq_BRAIN_Mouse2.83786329
7REST_21632747_ChIP-Seq_MESCs_Mouse2.81912825
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76517748
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76517748
10DROSHA_22980978_ChIP-Seq_HELA_Human2.73905060
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66576713
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.57603695
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53070176
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51645978
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50048294
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.49422866
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42633075
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31553091
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.29981333
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.28540778
21IKZF1_21737484_ChIP-ChIP_HCT116_Human2.22851324
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.22151058
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.21763149
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.21711114
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.16749175
26* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08347266
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07733005
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.04579764
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98350545
30AR_21572438_ChIP-Seq_LNCaP_Human1.83782875
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.74558761
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.67385395
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.62150487
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60615691
35SMAD4_21799915_ChIP-Seq_A2780_Human1.54409300
36OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.45997055
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45880196
38TAF15_26573619_Chip-Seq_HEK293_Human1.39964991
39ZNF274_21170338_ChIP-Seq_K562_Hela1.37577087
40RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36818250
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.36412436
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34112246
43DNAJC2_21179169_ChIP-ChIP_NT2_Human1.29338644
44* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28576347
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27959647
46GATA1_26923725_Chip-Seq_HPCs_Mouse1.26741568
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26460287
48AR_19668381_ChIP-Seq_PC3_Human1.24665035
49SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.24534703
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.23857836
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.21070933
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.20773220
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.20329697
54P300_19829295_ChIP-Seq_ESCs_Human1.19747481
55KDM2B_26808549_Chip-Seq_K562_Human1.19614691
56STAT3_23295773_ChIP-Seq_U87_Human1.18786686
57* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18761610
58AR_25329375_ChIP-Seq_VCAP_Human1.17061662
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.16978561
60RING1B_27294783_Chip-Seq_NPCs_Mouse1.16258391
61CBX2_27304074_Chip-Seq_ESCs_Mouse1.14925590
62WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13706210
63TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.13229084
64* TET1_21490601_ChIP-Seq_MESCs_Mouse1.12843017
65* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11390160
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10924434
67* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09902324
68* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.09558305
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09010254
70TP53_20018659_ChIP-ChIP_R1E_Mouse1.08045339
71RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07549082
72IGF1R_20145208_ChIP-Seq_DFB_Human1.07528355
73TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06360498
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.06149637
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05535930
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04619443
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04542134
78TCF4_23295773_ChIP-Seq_U87_Human1.04233755
79YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03200797
80OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02992924
81SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.02661622
82GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01869078
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.01181449
84BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99984120
85SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99098439
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98740693
87ARNT_22903824_ChIP-Seq_MCF-7_Human0.98569323
88CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.98514371
89RNF2_27304074_Chip-Seq_NSC_Mouse0.98467256
90SRY_22984422_ChIP-ChIP_TESTIS_Rat0.98454684
91SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96514167
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.95692549
93PIAS1_25552417_ChIP-Seq_VCAP_Human0.95564824
94AHR_22903824_ChIP-Seq_MCF-7_Human0.95187405
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.95168186
96TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93869058
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.93192331
98NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92937907
99DPY_21335234_ChIP-Seq_ESCs_Mouse0.91330670
100CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90862179
101ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.90350901
102RUNX2_22187159_ChIP-Seq_PCA_Human0.90216913
103* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89736372
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89579959
105AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89470163
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.89159506
107TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88979356
108PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88609762
109* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.87615001
110TP53_16413492_ChIP-PET_HCT116_Human0.87367929
111RUNX1_26923725_Chip-Seq_HPCs_Mouse0.86721058
112RXR_22108803_ChIP-Seq_LS180_Human0.86707399
113CTCF_27219007_Chip-Seq_Bcells_Human0.86659478
114* OCT4_19829295_ChIP-Seq_ESCs_Human0.85941702
115POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.85445171
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85445171
117KDM2B_26808549_Chip-Seq_SUP-B15_Human0.85398871
118LXR_22292898_ChIP-Seq_THP-1_Human0.84456668
119DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.81762683
120SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.78036858
121SOX9_26525672_Chip-Seq_HEART_Mouse0.76870250
122* SMC4_20622854_ChIP-Seq_HELA_Human0.76640212
123KLF4_19829295_ChIP-Seq_ESCs_Human0.76627726
124FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.75548468
125LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72358650
126NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.72333558
127SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.71444362
128PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.71437843

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.21265904
2MP0003880_abnormal_central_pattern4.84536381
3* MP0003635_abnormal_synaptic_transmissio4.30591911
4MP0004270_analgesia3.76662805
5MP0002822_catalepsy3.69881343
6MP0002063_abnormal_learning/memory/cond3.51871843
7* MP0009745_abnormal_behavioral_response3.50585726
8* MP0002064_seizures3.14989252
9MP0009046_muscle_twitch3.03400921
10MP0001968_abnormal_touch/_nociception3.01273785
11MP0005423_abnormal_somatic_nervous2.98259020
12MP0002572_abnormal_emotion/affect_behav2.87564216
13MP0001486_abnormal_startle_reflex2.67569650
14MP0002734_abnormal_mechanical_nocicepti2.65661597
15* MP0002272_abnormal_nervous_system2.52141874
16MP0001501_abnormal_sleep_pattern2.35034851
17MP0002735_abnormal_chemical_nociception2.22719522
18MP0002736_abnormal_nociception_after2.22100444
19MP0001440_abnormal_grooming_behavior2.14366917
20MP0002733_abnormal_thermal_nociception2.01817074
21MP0001970_abnormal_pain_threshold1.97158483
22MP0008569_lethality_at_weaning1.91846862
23MP0002067_abnormal_sensory_capabilities1.89676802
24MP0009780_abnormal_chondrocyte_physiolo1.87351360
25* MP0004811_abnormal_neuron_physiology1.84373459
26MP0000778_abnormal_nervous_system1.83189514
27MP0002909_abnormal_adrenal_gland1.82641775
28MP0002557_abnormal_social/conspecific_i1.80512899
29MP0002184_abnormal_innervation1.79809981
30MP0005646_abnormal_pituitary_gland1.77257375
31MP0004924_abnormal_behavior1.75314714
32MP0005386_behavior/neurological_phenoty1.75314714
33MP0004858_abnormal_nervous_system1.75029052
34MP0003329_amyloid_beta_deposits1.70627922
35MP0000955_abnormal_spinal_cord1.57927600
36MP0003787_abnormal_imprinting1.56312432
37MP0003123_paternal_imprinting1.55789658
38MP0006276_abnormal_autonomic_nervous1.55676059
39MP0003879_abnormal_hair_cell1.54924515
40MP0004885_abnormal_endolymph1.53832672
41MP0001984_abnormal_olfaction1.48716273
42MP0001529_abnormal_vocalization1.46193267
43MP0002066_abnormal_motor_capabilities/c1.42687204
44MP0005645_abnormal_hypothalamus_physiol1.42141331
45MP0002882_abnormal_neuron_morphology1.41865863
46MP0003633_abnormal_nervous_system1.36030954
47MP0000569_abnormal_digit_pigmentation1.34650220
48MP0001502_abnormal_circadian_rhythm1.20928110
49MP0001905_abnormal_dopamine_level1.16019048
50MP0003631_nervous_system_phenotype1.12859933
51MP0002152_abnormal_brain_morphology1.12295621
52MP0004142_abnormal_muscle_tone1.12140894
53MP0008872_abnormal_physiological_respon1.08412520
54MP0001188_hyperpigmentation1.07940699
55MP0003122_maternal_imprinting1.07080274
56MP0003121_genomic_imprinting0.99648877
57MP0008874_decreased_physiological_sensi0.97505329
58MP0002069_abnormal_eating/drinking_beha0.97468607
59MP0008961_abnormal_basal_metabolism0.95762266
60MP0003075_altered_response_to0.95426886
61MP0003283_abnormal_digestive_organ0.94669527
62MP0000751_myopathy0.90920557
63MP0001346_abnormal_lacrimal_gland0.89738285
64MP0002229_neurodegeneration0.88989035
65MP0010386_abnormal_urinary_bladder0.87229995
66MP0004145_abnormal_muscle_electrophysio0.85511073
67MP0005409_darkened_coat_color0.85114944
68MP0003690_abnormal_glial_cell0.84281068
69MP0002653_abnormal_ependyma_morphology0.84009550
70MP0004085_abnormal_heartbeat0.83655505
71MP0004742_abnormal_vestibular_system0.80782239
72MP0005535_abnormal_body_temperature0.79749458
73MP0003938_abnormal_ear_development0.79559110
74MP0005551_abnormal_eye_electrophysiolog0.78485410
75MP0008877_abnormal_DNA_methylation0.77328897
76MP0000631_abnormal_neuroendocrine_gland0.77251962
77MP0005499_abnormal_olfactory_system0.76647800
78MP0005394_taste/olfaction_phenotype0.76647800
79MP0003632_abnormal_nervous_system0.76511231
80MP0000920_abnormal_myelination0.76470615
81* MP0001177_atelectasis0.76092879
82MP0003634_abnormal_glial_cell0.74867272
83MP0001348_abnormal_lacrimal_gland0.73033345
84MP0001963_abnormal_hearing_physiology0.72396723
85MP0000579_abnormal_nail_morphology0.71981469
86MP0000604_amyloidosis0.71464824
87MP0002638_abnormal_pupillary_reflex0.70705849
88MP0000026_abnormal_inner_ear0.70470323
89MP0000566_synostosis0.69942194
90MP0005167_abnormal_blood-brain_barrier0.69506839
91MP0002752_abnormal_somatic_nervous0.68645611
92MP0004510_myositis0.68129564
93MP0002249_abnormal_larynx_morphology0.67434913
94MP0003137_abnormal_impulse_conducting0.66734387
95MP0006292_abnormal_olfactory_placode0.65590090
96MP0002090_abnormal_vision0.65289915
97MP0000013_abnormal_adipose_tissue0.64955783
98MP0005623_abnormal_meninges_morphology0.59816092
99MP0004215_abnormal_myocardial_fiber0.58879550
100MP0001664_abnormal_digestion0.58766676
101MP0003861_abnormal_nervous_system0.58731481
102MP0001485_abnormal_pinna_reflex0.58576686
103MP0001299_abnormal_eye_distance/0.57721466
104MP0009379_abnormal_foot_pigmentation0.56876319
105MP0004133_heterotaxia0.56538306
106MP0004147_increased_porphyrin_level0.55794246
107MP0003172_abnormal_lysosome_physiology0.55076070
108* MP0002081_perinatal_lethality0.54545051
109* MP0010769_abnormal_survival0.53908261
110MP0001943_abnormal_respiration0.53769023
111MP0004484_altered_response_of0.52467339
112* MP0010770_preweaning_lethality0.51324154
113* MP0002082_postnatal_lethality0.51324154
114MP0005187_abnormal_penis_morphology0.50654416
115* MP0010768_mortality/aging0.50566436
116MP0002876_abnormal_thyroid_physiology0.49996111
117MP0004233_abnormal_muscle_weight0.49755183
118* MP0003956_abnormal_body_size0.49250657

Predicted human phenotypes

RankGene SetZ-score
1* Myokymia (HP:0002411)6.82290426
2* Focal motor seizures (HP:0011153)6.76019658
3* Focal seizures (HP:0007359)5.58312377
4Visual hallucinations (HP:0002367)5.25710179
5Epileptic encephalopathy (HP:0200134)4.71134603
6Progressive cerebellar ataxia (HP:0002073)4.43236493
7Action tremor (HP:0002345)4.22624736
8Atonic seizures (HP:0010819)4.20342006
9Absence seizures (HP:0002121)3.96660052
10Ankle clonus (HP:0011448)3.91326837
11Broad-based gait (HP:0002136)3.84679359
12Poor eye contact (HP:0000817)3.82435873
13Supranuclear gaze palsy (HP:0000605)3.72779395
14Impaired vibration sensation in the lower limbs (HP:0002166)3.72264584
15Dialeptic seizures (HP:0011146)3.68460152
16* Febrile seizures (HP:0002373)3.60084221
17Gaze-evoked nystagmus (HP:0000640)3.52298285
18Impaired social interactions (HP:0000735)3.48367893
19Abnormal social behavior (HP:0012433)3.48367893
20* Generalized tonic-clonic seizures (HP:0002069)3.44174770
21Depression (HP:0000716)3.42095731
22Urinary bladder sphincter dysfunction (HP:0002839)3.35400429
23Dysdiadochokinesis (HP:0002075)3.28808286
24Papilledema (HP:0001085)3.27121813
25Mutism (HP:0002300)3.21768206
26Dysmetria (HP:0001310)3.19506400
27Anxiety (HP:0000739)3.16229863
28Abnormality of the lower motor neuron (HP:0002366)3.12031662
29Postural instability (HP:0002172)3.09783878
30Abnormal eating behavior (HP:0100738)3.07414804
31Cerebral hypomyelination (HP:0006808)3.04501786
32Truncal ataxia (HP:0002078)3.02520805
33Torticollis (HP:0000473)3.01989453
34Hyperventilation (HP:0002883)3.01756475
35Amblyopia (HP:0000646)2.97541399
36Genetic anticipation (HP:0003743)2.94216904
37Urinary urgency (HP:0000012)2.93967209
38Tetraplegia (HP:0002445)2.93909030
39Spastic gait (HP:0002064)2.85478172
40Impaired smooth pursuit (HP:0007772)2.81608027
41Focal dystonia (HP:0004373)2.80304803
42Sleep apnea (HP:0010535)2.79253787
43Hemiparesis (HP:0001269)2.78634947
44Excessive salivation (HP:0003781)2.77761511
45Drooling (HP:0002307)2.77761511
46Stereotypic behavior (HP:0000733)2.73451652
47Intention tremor (HP:0002080)2.62018103
48Scanning speech (HP:0002168)2.61676921
49Hemiplegia (HP:0002301)2.59444576
50Annular pancreas (HP:0001734)2.58343186
51Bradykinesia (HP:0002067)2.55741858
52Progressive inability to walk (HP:0002505)2.54062882
53Abnormality of binocular vision (HP:0011514)2.52557398
54Diplopia (HP:0000651)2.52557398
55Abnormality of ocular smooth pursuit (HP:0000617)2.51372050
56Craniofacial dystonia (HP:0012179)2.50783166
57Fetal akinesia sequence (HP:0001989)2.48085786
58Delusions (HP:0000746)2.46373129
59Pointed chin (HP:0000307)2.44614580
60Impaired vibratory sensation (HP:0002495)2.43806154
61Ventricular fibrillation (HP:0001663)2.39943193
62Epileptiform EEG discharges (HP:0011182)2.39905521
63Neurofibrillary tangles (HP:0002185)2.39297619
64Dysmetric saccades (HP:0000641)2.34956320
65Limb dystonia (HP:0002451)2.34192110
66Megalencephaly (HP:0001355)2.33690664
67Peripheral hypomyelination (HP:0007182)2.32961517
68Cerebral inclusion bodies (HP:0100314)2.32579859
69Lower limb muscle weakness (HP:0007340)2.32468063
70Morphological abnormality of the pyramidal tract (HP:0002062)2.31351979
71Status epilepticus (HP:0002133)2.30485767
72EEG with generalized epileptiform discharges (HP:0011198)2.30431220
73Abnormality of the corticospinal tract (HP:0002492)2.29619860
74Split foot (HP:0001839)2.29433935
75Absent speech (HP:0001344)2.28148914
76Insidious onset (HP:0003587)2.27168827
77Termporal pattern (HP:0011008)2.27168827
78Hypsarrhythmia (HP:0002521)2.21584055
79Insomnia (HP:0100785)2.20632076
80Obstructive sleep apnea (HP:0002870)2.18243455
81Polyphagia (HP:0002591)2.16833942
82Diminished motivation (HP:0000745)2.15569135
83Amyotrophic lateral sclerosis (HP:0007354)2.15132280
84Clonus (HP:0002169)2.10287195
85Turricephaly (HP:0000262)2.10256519
86Aplasia involving bones of the upper limbs (HP:0009823)2.10135954
87Aplasia of the phalanges of the hand (HP:0009802)2.10135954
88Aplasia involving bones of the extremities (HP:0009825)2.10135954
89Lower limb amyotrophy (HP:0007210)2.08790595
90Incomplete penetrance (HP:0003829)2.07983287
91Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.06528768
92Degeneration of the lateral corticospinal tracts (HP:0002314)2.06528768
93CNS hypomyelination (HP:0003429)2.05720259
94Abnormal EKG (HP:0003115)2.05456509
95Agitation (HP:0000713)2.04145914
96Inappropriate behavior (HP:0000719)2.02298475
97Inability to walk (HP:0002540)2.01583114
98Generalized myoclonic seizures (HP:0002123)1.99314809
99Resting tremor (HP:0002322)1.98968108
100Gait ataxia (HP:0002066)1.97868023
101Bundle branch block (HP:0011710)1.96239669
102Choreoathetosis (HP:0001266)1.95809986
103Pheochromocytoma (HP:0002666)1.94601716
104Neuronal loss in central nervous system (HP:0002529)1.92887678
105Ankyloglossia (HP:0010296)1.90218270
106Bronchomalacia (HP:0002780)1.89705189
107Blue irides (HP:0000635)1.89027458
108Abnormality of saccadic eye movements (HP:0000570)1.86458649
109Lower limb asymmetry (HP:0100559)1.84502434
110Abnormality of salivation (HP:0100755)1.83715885
111Apathy (HP:0000741)1.81474633
112Protruding tongue (HP:0010808)1.80854683
113Rapidly progressive (HP:0003678)1.79778995
114Rigidity (HP:0002063)1.79138809
115Spastic tetraplegia (HP:0002510)1.79059116
116Psychosis (HP:0000709)1.74991004
117Akinesia (HP:0002304)1.73264119
118Prolonged QT interval (HP:0001657)1.72923389
119Aqueductal stenosis (HP:0002410)1.72403450
120Spinal canal stenosis (HP:0003416)1.72088057
121Overriding aorta (HP:0002623)1.65695915
122Failure to thrive in infancy (HP:0001531)1.64304215

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.08782342
2NTRK34.79557013
3MAP3K93.82262269
4MARK13.40222977
5MAP3K42.92589474
6MINK12.68855847
7DAPK22.63306977
8MAP2K72.42650233
9PRKD32.27555620
10PAK62.24994563
11NTRK22.19781462
12KSR22.12202094
13CAMKK12.06778778
14RIPK41.86749197
15MAP2K41.79800056
16NTRK11.78311556
17KSR11.74887472
18SIK21.64831088
19CDK51.62647934
20MAP3K121.61233946
21TNIK1.58436916
22DAPK11.58134686
23FES1.41992578
24STK381.41332051
25MAPK131.38982046
26PRPF4B1.38244343
27CASK1.22289854
28TYRO31.21168375
29PRKCG1.18299434
30ARAF1.15047423
31MAP3K21.14033387
32UHMK11.13227023
33GRK51.12096693
34CDK191.11832777
35MAP3K131.10458039
36TAOK11.10044274
37PLK21.08762986
38CAMKK21.04705966
39PNCK1.02517464
40CAMK11.01024971
41PHKG10.96344005
42PHKG20.96344005
43SGK4940.92667379
44SGK2230.92667379
45STK110.91755994
46PKN10.91602397
47CAMK2A0.91172569
48CDK180.90071048
49CDK150.88129956
50DYRK20.87102355
51PRKCH0.86827311
52LATS20.86388011
53CDK140.81231801
54SGK20.81149662
55RET0.80776329
56RAF10.80299860
57CAMK2B0.79998627
58PINK10.79464464
59ALK0.79207065
60FGFR20.77370672
61CDK11A0.76874342
62MARK20.76553272
63SGK10.74143299
64SGK30.73671011
65BMPR20.68491066
66PTK2B0.67339665
67LMTK20.67293098
68PAK30.66344605
69DYRK1A0.64641156
70PDK10.63677771
71TNK20.61999389
72MAPK120.61412622
73CSNK1G20.60716247
74PDPK10.58379856
75RIPK10.56448503
76BRAF0.55214980
77PRKCZ0.54667603
78CDC42BPA0.53982026
79CAMK1G0.53224526
80RPS6KA30.53039485
81MAP3K10.52240239
82CAMK40.51195305
83SIK30.51148764
84ROCK20.50923194
85OXSR10.50255389
86FYN0.50067243
87NEK60.47741461
88CAMK1D0.47530691
89ERBB20.46760452
90MAP3K110.45741915
91MAPK100.45401306
92BRSK10.44446137
93LIMK10.44323030
94MAP3K70.44303622
95PRKCE0.42266813
96MAP3K60.40846006
97CAMK2D0.39415937
98RPS6KA20.39249659
99WNK10.38724360
100CAMK2G0.38425091
101NEK10.38416802
102FER0.37542490
103SCYL20.37336851
104CSNK1E0.35472305
105DAPK30.35094329
106MAP2K10.34664242
107CCNB10.34499231
108WNK30.33449707
109PRKCB0.33243428
110ERBB30.32225763
111DMPK0.31840371
112FGR0.30641502
113MAPK80.30343402
114CSNK1D0.28801254
115GSK3B0.28354839
116CSNK1G30.27770737
117ROCK10.27438105
118ICK0.26075400
119* PRKCA0.25834703
120PRKDC0.25083611
121CSNK1A1L0.24606784
122PRKACA0.23939042

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.69596240
2Synaptic vesicle cycle_Homo sapiens_hsa047213.17169649
3Olfactory transduction_Homo sapiens_hsa047402.92077902
4Circadian entrainment_Homo sapiens_hsa047132.78668277
5Long-term potentiation_Homo sapiens_hsa047202.71669624
6GABAergic synapse_Homo sapiens_hsa047272.69254868
7Glutamatergic synapse_Homo sapiens_hsa047242.66670026
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.61906572
9Morphine addiction_Homo sapiens_hsa050322.55568072
10Amphetamine addiction_Homo sapiens_hsa050312.52562476
11Dopaminergic synapse_Homo sapiens_hsa047282.23347364
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.16769337
13Salivary secretion_Homo sapiens_hsa049702.14366561
14Insulin secretion_Homo sapiens_hsa049111.99619475
15* Cholinergic synapse_Homo sapiens_hsa047251.93719367
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.92749785
17Gastric acid secretion_Homo sapiens_hsa049711.89166429
18Cocaine addiction_Homo sapiens_hsa050301.78744677
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70337354
20Oxytocin signaling pathway_Homo sapiens_hsa049211.69063996
21Long-term depression_Homo sapiens_hsa047301.67408545
22Taste transduction_Homo sapiens_hsa047421.67307726
23Vitamin B6 metabolism_Homo sapiens_hsa007501.63359067
24Renin secretion_Homo sapiens_hsa049241.63152103
25Calcium signaling pathway_Homo sapiens_hsa040201.61983799
26Serotonergic synapse_Homo sapiens_hsa047261.61312806
27GnRH signaling pathway_Homo sapiens_hsa049121.51217218
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39048507
29Gap junction_Homo sapiens_hsa045401.37477537
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35215070
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34088703
32cAMP signaling pathway_Homo sapiens_hsa040241.33229142
33Type II diabetes mellitus_Homo sapiens_hsa049301.31430746
34Glioma_Homo sapiens_hsa052141.20027264
35Nitrogen metabolism_Homo sapiens_hsa009101.19661039
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18019152
37Axon guidance_Homo sapiens_hsa043601.17940466
38Estrogen signaling pathway_Homo sapiens_hsa049151.15968284
39ErbB signaling pathway_Homo sapiens_hsa040121.10018130
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.08834336
41Collecting duct acid secretion_Homo sapiens_hsa049661.08636613
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04022814
43Melanogenesis_Homo sapiens_hsa049161.01773614
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00547153
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.00502453
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.91977364
47Oocyte meiosis_Homo sapiens_hsa041140.88205992
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.87899431
49Pancreatic secretion_Homo sapiens_hsa049720.83801542
50Dorso-ventral axis formation_Homo sapiens_hsa043200.82365812
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.81372204
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.79662988
53Choline metabolism in cancer_Homo sapiens_hsa052310.79085537
54Cardiac muscle contraction_Homo sapiens_hsa042600.77958410
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77241953
56Thyroid hormone synthesis_Homo sapiens_hsa049180.75456036
57Phototransduction_Homo sapiens_hsa047440.74524826
58MAPK signaling pathway_Homo sapiens_hsa040100.73147383
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.72978599
60Dilated cardiomyopathy_Homo sapiens_hsa054140.72125203
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71318677
62VEGF signaling pathway_Homo sapiens_hsa043700.68185024
63Vibrio cholerae infection_Homo sapiens_hsa051100.65704948
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63335137
65Rap1 signaling pathway_Homo sapiens_hsa040150.61165369
66mTOR signaling pathway_Homo sapiens_hsa041500.61164323
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59804445
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59265415
69Ras signaling pathway_Homo sapiens_hsa040140.59200081
70Type I diabetes mellitus_Homo sapiens_hsa049400.57711937
71Alcoholism_Homo sapiens_hsa050340.56769561
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.56694996
73Glucagon signaling pathway_Homo sapiens_hsa049220.55117967
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54288521
75Non-small cell lung cancer_Homo sapiens_hsa052230.53951967
76Hippo signaling pathway_Homo sapiens_hsa043900.52993204
77Endocytosis_Homo sapiens_hsa041440.52858864
78Endometrial cancer_Homo sapiens_hsa052130.51693142
79Inositol phosphate metabolism_Homo sapiens_hsa005620.50704584
80Bile secretion_Homo sapiens_hsa049760.50065601
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47847565
82Alzheimers disease_Homo sapiens_hsa050100.47155799
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46168093
84Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.45326844
85Circadian rhythm_Homo sapiens_hsa047100.45166956
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45018492
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44982764
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44082328
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42618171
90Wnt signaling pathway_Homo sapiens_hsa043100.42071316
91Insulin signaling pathway_Homo sapiens_hsa049100.41370202
92Chemokine signaling pathway_Homo sapiens_hsa040620.40940563
93Arginine and proline metabolism_Homo sapiens_hsa003300.39969939
94Tight junction_Homo sapiens_hsa045300.39004025
95Renal cell carcinoma_Homo sapiens_hsa052110.38987055
96Prion diseases_Homo sapiens_hsa050200.38352382
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38334055
98Ovarian steroidogenesis_Homo sapiens_hsa049130.37008947
99African trypanosomiasis_Homo sapiens_hsa051430.36913921
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.36836737
101Hedgehog signaling pathway_Homo sapiens_hsa043400.33758246
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33473094
103Fatty acid biosynthesis_Homo sapiens_hsa000610.31966444
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30027804
105Colorectal cancer_Homo sapiens_hsa052100.29869374
106AMPK signaling pathway_Homo sapiens_hsa041520.29537746
107Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.27996568
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27705320
109Prolactin signaling pathway_Homo sapiens_hsa049170.25006518
110Arginine biosynthesis_Homo sapiens_hsa002200.22012886
111Basal cell carcinoma_Homo sapiens_hsa052170.20187304
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19197063
113Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.17721466

Most similar genes based on co-expression Upload to Enrichr

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