SCN2A

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: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.15321749
2synaptic vesicle docking involved in exocytosis (GO:0016081)6.64000707
3glutamate secretion (GO:0014047)6.49346378
4regulation of short-term neuronal synaptic plasticity (GO:0048172)6.46534099
5synaptic vesicle exocytosis (GO:0016079)6.18871217
6membrane depolarization during cardiac muscle cell action potential (GO:0086012)5.75143924
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.59142450
8ionotropic glutamate receptor signaling pathway (GO:0035235)5.51133815
9regulation of synaptic vesicle exocytosis (GO:2000300)5.48342340
10neurotransmitter secretion (GO:0007269)5.17642481
11vocalization behavior (GO:0071625)5.11058233
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.98526405
13protein localization to synapse (GO:0035418)4.94353582
14regulation of synaptic vesicle transport (GO:1902803)4.93036973
15synaptic transmission, glutamatergic (GO:0035249)4.89829113
16cellular potassium ion homeostasis (GO:0030007)4.87652115
17neuronal action potential propagation (GO:0019227)4.86591563
18neurotransmitter-gated ion channel clustering (GO:0072578)4.76328363
19postsynaptic membrane organization (GO:0001941)4.74140216
20neuron cell-cell adhesion (GO:0007158)4.72101002
21positive regulation of synapse maturation (GO:0090129)4.71945484
22glutamate receptor signaling pathway (GO:0007215)4.63741028
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.62430578
24locomotory exploration behavior (GO:0035641)4.62123985
25exploration behavior (GO:0035640)4.58393654
26regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.56719653
27sodium ion export (GO:0071436)4.54845790
28neuron-neuron synaptic transmission (GO:0007270)4.54268782
29cerebellar granule cell differentiation (GO:0021707)4.38936759
30gamma-aminobutyric acid signaling pathway (GO:0007214)4.34436635
31regulation of neuronal synaptic plasticity (GO:0048168)4.32910177
32gamma-aminobutyric acid transport (GO:0015812)4.32167877
33regulation of glutamate receptor signaling pathway (GO:1900449)4.25300340
34neurotransmitter transport (GO:0006836)4.23805093
35auditory behavior (GO:0031223)4.20431431
36negative regulation of synaptic transmission, GABAergic (GO:0032229)4.18588713
37presynaptic membrane assembly (GO:0097105)4.16774365
38regulation of synapse structural plasticity (GO:0051823)4.16327314
39regulation of long-term neuronal synaptic plasticity (GO:0048169)4.11885285
40presynaptic membrane organization (GO:0097090)4.07810956
41regulation of excitatory postsynaptic membrane potential (GO:0060079)4.02173942
42positive regulation of membrane potential (GO:0045838)3.94333517
43regulation of neurotransmitter levels (GO:0001505)3.90162683
44regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.89106722
45regulation of synapse maturation (GO:0090128)3.88006770
46L-amino acid import (GO:0043092)3.85891367
47regulation of postsynaptic membrane potential (GO:0060078)3.79389957
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.78273725
49* membrane depolarization during action potential (GO:0086010)3.76810414
50dendritic spine morphogenesis (GO:0060997)3.73319756
51regulation of neurotransmitter secretion (GO:0046928)3.71406316
52response to auditory stimulus (GO:0010996)3.71246858
53layer formation in cerebral cortex (GO:0021819)3.71008352
54positive regulation of dendritic spine development (GO:0060999)3.64334087
55positive regulation of dendritic spine morphogenesis (GO:0061003)3.64017810
56cerebellar Purkinje cell differentiation (GO:0021702)3.62696465
57regulation of vesicle fusion (GO:0031338)3.62659346
58neuronal ion channel clustering (GO:0045161)3.60716652
59* membrane depolarization (GO:0051899)3.55407801
60synaptic vesicle endocytosis (GO:0048488)3.54887416
61transmission of nerve impulse (GO:0019226)3.54815393
62long-term memory (GO:0007616)3.54416332
63regulation of voltage-gated calcium channel activity (GO:1901385)3.54106622
64regulation of synaptic transmission, glutamatergic (GO:0051966)3.53520206
65neuron recognition (GO:0008038)3.53085286
66regulation of synaptic plasticity (GO:0048167)3.41881664
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.41420302
68regulation of neurotransmitter transport (GO:0051588)3.40849155
69G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.39262141
70amino acid import (GO:0043090)3.38893470
71serotonin metabolic process (GO:0042428)3.36463744
72mechanosensory behavior (GO:0007638)3.36224862
73startle response (GO:0001964)3.35759367
74potassium ion homeostasis (GO:0055075)3.33895777
75regulation of dendritic spine morphogenesis (GO:0061001)3.32688681
76proline transport (GO:0015824)3.29689992
77axonal fasciculation (GO:0007413)3.28499860
78synaptic transmission (GO:0007268)3.27869542
79negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.27021533
80detection of calcium ion (GO:0005513)3.26284575
81cellular sodium ion homeostasis (GO:0006883)3.25341205
82cell communication by electrical coupling (GO:0010644)3.24765575
83neuromuscular process controlling balance (GO:0050885)3.23883463
84establishment of mitochondrion localization (GO:0051654)3.20864991
85potassium ion import (GO:0010107)3.19882644
86regulation of dendritic spine development (GO:0060998)3.18495380
87dendrite morphogenesis (GO:0048813)3.17823354
88central nervous system myelination (GO:0022010)3.16273537
89axon ensheathment in central nervous system (GO:0032291)3.16273537
90positive regulation of neurotransmitter secretion (GO:0001956)3.15942782
91positive regulation of neurotransmitter transport (GO:0051590)3.12589017
92regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.11447085
93establishment of synaptic vesicle localization (GO:0097480)3.10581005
94synaptic vesicle transport (GO:0048489)3.10581005
95adult walking behavior (GO:0007628)3.10508897
96positive regulation of synapse assembly (GO:0051965)3.07395538
97cell differentiation in hindbrain (GO:0021533)3.02428689
98regulation of synaptic transmission (GO:0050804)3.01882051
99negative regulation of dendrite morphogenesis (GO:0050774)3.01511230
100neuromuscular process (GO:0050905)3.01032665

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.50746272
2GBX2_23144817_ChIP-Seq_PC3_Human3.72600025
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.69892805
4REST_21632747_ChIP-Seq_MESCs_Mouse3.10045392
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.96193390
6DROSHA_22980978_ChIP-Seq_HELA_Human2.82086794
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79313028
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.78730370
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.59944166
10REST_18959480_ChIP-ChIP_MESCs_Mouse2.45396258
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37503093
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.35843953
13CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.35425270
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.34583616
15RARB_27405468_Chip-Seq_BRAIN_Mouse2.31520143
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.28914931
17RNF2_18974828_ChIP-Seq_MESCs_Mouse2.28272424
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.28272424
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.26393315
20SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.24605110
21SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.23407945
22SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.21229754
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.14606883
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.13622223
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.13533934
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.06660387
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02070814
28TAF15_26573619_Chip-Seq_HEK293_Human2.00936976
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.99722786
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94156282
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.85914353
32AR_21572438_ChIP-Seq_LNCaP_Human1.77095096
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73679394
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.68527739
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63033692
36SMAD4_21799915_ChIP-Seq_A2780_Human1.62254013
37RNF2_27304074_Chip-Seq_NSC_Mouse1.58923120
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57790017
39RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.52777245
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52637780
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.50920936
42RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.49761569
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46261797
44POU3F2_20337985_ChIP-ChIP_501MEL_Human1.41511954
45IKZF1_21737484_ChIP-ChIP_HCT116_Human1.41001643
46NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40063527
47IGF1R_20145208_ChIP-Seq_DFB_Human1.38704821
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33442980
49SOX2_21211035_ChIP-Seq_LN229_Gbm1.33052943
50P300_19829295_ChIP-Seq_ESCs_Human1.32917430
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.31601836
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.30296727
53STAT3_23295773_ChIP-Seq_U87_Human1.27127279
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25182152
55RING1B_27294783_Chip-Seq_ESCs_Mouse1.24139506
56AR_19668381_ChIP-Seq_PC3_Human1.23724824
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23246984
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.21641354
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.21588226
60* TCF4_23295773_ChIP-Seq_U87_Human1.21124827
61TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20698233
62TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20441478
63AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20154662
64TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20060681
65TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19940570
66POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19940570
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19803699
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18921699
69AR_25329375_ChIP-Seq_VCAP_Human1.16631762
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13966493
71YAP1_20516196_ChIP-Seq_MESCs_Mouse1.12990498
72WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11145924
73MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09816298
74MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08659106
75FUS_26573619_Chip-Seq_HEK293_Human1.07164998
76DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05412064
77LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05271732
78CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04531458
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00242582
80KDM2B_26808549_Chip-Seq_REH_Human0.97816482
81GATA1_26923725_Chip-Seq_HPCs_Mouse0.97802954
82TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97138579
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97050254
84NANOG_18555785_Chip-Seq_ESCs_Mouse0.97002921
85CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.95655868
86RUNX2_22187159_ChIP-Seq_PCA_Human0.95430748
87PRDM14_20953172_ChIP-Seq_ESCs_Human0.95103938
88SOX9_26525672_Chip-Seq_HEART_Mouse0.95094434
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.94728135
90RING1B_27294783_Chip-Seq_NPCs_Mouse0.94574429
91ERG_21242973_ChIP-ChIP_JURKAT_Human0.93887506
92JUN_21703547_ChIP-Seq_K562_Human0.93821821
93NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91796990
94SMAD3_21741376_ChIP-Seq_ESCs_Human0.91733865
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89472208
96FLI1_21867929_ChIP-Seq_TH2_Mouse0.89353367
97TP53_16413492_ChIP-PET_HCT116_Human0.88248562
98TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.87557106
99FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.87119710
100KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.86405365

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.15779353
2MP0003880_abnormal_central_pattern5.25593308
3MP0004270_analgesia4.50295793
4MP0003635_abnormal_synaptic_transmissio4.03371039
5MP0005423_abnormal_somatic_nervous3.68192621
6MP0002064_seizures3.55281505
7MP0009046_muscle_twitch3.49953257
8MP0009745_abnormal_behavioral_response3.46025780
9MP0002063_abnormal_learning/memory/cond3.21691302
10MP0001968_abnormal_touch/_nociception3.13319332
11MP0002272_abnormal_nervous_system3.07090061
12MP0002734_abnormal_mechanical_nocicepti2.92269260
13MP0001486_abnormal_startle_reflex2.89635803
14MP0002572_abnormal_emotion/affect_behav2.76658425
15MP0002735_abnormal_chemical_nociception2.74305729
16MP0001501_abnormal_sleep_pattern2.46938580
17MP0002736_abnormal_nociception_after2.36213598
18MP0008569_lethality_at_weaning2.20296255
19MP0003787_abnormal_imprinting2.08676460
20MP0001970_abnormal_pain_threshold2.06011209
21MP0002067_abnormal_sensory_capabilities2.00835660
22MP0002733_abnormal_thermal_nociception1.98669410
23MP0000778_abnormal_nervous_system1.90277212
24MP0003879_abnormal_hair_cell1.87838435
25MP0001440_abnormal_grooming_behavior1.87770284
26MP0000569_abnormal_digit_pigmentation1.84664181
27MP0002822_catalepsy1.81475168
28MP0005386_behavior/neurological_phenoty1.79274564
29MP0004924_abnormal_behavior1.79274564
30MP0004811_abnormal_neuron_physiology1.72442769
31MP0002557_abnormal_social/conspecific_i1.71169350
32MP0003122_maternal_imprinting1.70134572
33MP0003329_amyloid_beta_deposits1.67167529
34MP0003633_abnormal_nervous_system1.66336112
35MP0006276_abnormal_autonomic_nervous1.65804648
36MP0001905_abnormal_dopamine_level1.50509348
37MP0000955_abnormal_spinal_cord1.49813569
38MP0002882_abnormal_neuron_morphology1.49657722
39MP0002066_abnormal_motor_capabilities/c1.49491916
40MP0005646_abnormal_pituitary_gland1.45533673
41MP0001984_abnormal_olfaction1.44290491
42MP0002184_abnormal_innervation1.44027187
43MP0001529_abnormal_vocalization1.41465882
44MP0003631_nervous_system_phenotype1.41383496
45MP0009780_abnormal_chondrocyte_physiolo1.41131218
46MP0004885_abnormal_endolymph1.36800578
47MP0004742_abnormal_vestibular_system1.32150598
48MP0003690_abnormal_glial_cell1.30767491
49MP0001502_abnormal_circadian_rhythm1.20164142
50MP0000920_abnormal_myelination1.19118911
51MP0001177_atelectasis1.13569805
52MP0002152_abnormal_brain_morphology1.12987601
53MP0002229_neurodegeneration1.12224948
54MP0001188_hyperpigmentation1.12154244
55MP0005551_abnormal_eye_electrophysiolog1.10182438
56MP0004147_increased_porphyrin_level1.07480442
57MP0008877_abnormal_DNA_methylation1.06905942
58MP0003632_abnormal_nervous_system1.01796086
59MP0003121_genomic_imprinting1.00171689
60MP0005645_abnormal_hypothalamus_physiol0.94881405
61MP0002909_abnormal_adrenal_gland0.93987701
62MP0008872_abnormal_physiological_respon0.93652658
63MP0003123_paternal_imprinting0.93155245
64MP0004142_abnormal_muscle_tone0.93143541
65MP0001963_abnormal_hearing_physiology0.91611135
66MP0010386_abnormal_urinary_bladder0.91181099
67MP0003634_abnormal_glial_cell0.89959394
68MP0002638_abnormal_pupillary_reflex0.86949730
69MP0008874_decreased_physiological_sensi0.86438338
70MP0002069_abnormal_eating/drinking_beha0.83028841
71MP0001485_abnormal_pinna_reflex0.82653337
72MP0002752_abnormal_somatic_nervous0.79144971
73MP0001986_abnormal_taste_sensitivity0.76644817
74MP0000631_abnormal_neuroendocrine_gland0.68191786
75MP0005535_abnormal_body_temperature0.67895319
76MP0000604_amyloidosis0.66991497
77MP0010769_abnormal_survival0.62546141
78MP0004043_abnormal_pH_regulation0.62411020
79MP0002082_postnatal_lethality0.61489637
80MP0010770_preweaning_lethality0.61489637
81MP0003861_abnormal_nervous_system0.59967743
82MP0010768_mortality/aging0.59262106
83MP0001943_abnormal_respiration0.57309842
84MP0003137_abnormal_impulse_conducting0.56944614
85MP0005187_abnormal_penis_morphology0.55031196
86MP0004085_abnormal_heartbeat0.53897939
87MP0004145_abnormal_muscle_electrophysio0.52497541
88MP0003956_abnormal_body_size0.51670403
89MP0001299_abnormal_eye_distance/0.51470727
90MP0005623_abnormal_meninges_morphology0.51020808
91MP0002876_abnormal_thyroid_physiology0.50146873
92MP0000026_abnormal_inner_ear0.50127417
93MP0004130_abnormal_muscle_cell0.49929265
94MP0001348_abnormal_lacrimal_gland0.49867267
95MP0001346_abnormal_lacrimal_gland0.47286630
96MP0000751_myopathy0.47000818
97MP0004215_abnormal_myocardial_fiber0.45663543
98MP0005167_abnormal_blood-brain_barrier0.44704292
99MP0002090_abnormal_vision0.41154910
100MP0002081_perinatal_lethality0.38519303

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.29769272
2* Focal motor seizures (HP:0011153)7.04227390
3Febrile seizures (HP:0002373)6.48004811
4* Focal seizures (HP:0007359)6.30148554
5Atonic seizures (HP:0010819)6.09192161
6Epileptic encephalopathy (HP:0200134)6.06130197
7Limb dystonia (HP:0002451)5.12761981
8Action tremor (HP:0002345)4.92801238
9Absence seizures (HP:0002121)4.33319033
10Supranuclear gaze palsy (HP:0000605)4.32472650
11Progressive cerebellar ataxia (HP:0002073)4.20671074
12Abnormality of binocular vision (HP:0011514)4.17937081
13Diplopia (HP:0000651)4.17937081
14* Generalized tonic-clonic seizures (HP:0002069)4.03842882
15Ankle clonus (HP:0011448)3.92050751
16* Dialeptic seizures (HP:0011146)3.77944683
17Hyperventilation (HP:0002883)3.71543550
18Spastic gait (HP:0002064)3.63659752
19Abnormal eating behavior (HP:0100738)3.58392724
20Broad-based gait (HP:0002136)3.51745284
21Truncal ataxia (HP:0002078)3.49062284
22Mutism (HP:0002300)3.43200715
23Postural instability (HP:0002172)3.39932201
24Epileptiform EEG discharges (HP:0011182)3.34749494
25Drooling (HP:0002307)3.24642309
26Impaired vibration sensation in the lower limbs (HP:0002166)3.23044215
27Visual hallucinations (HP:0002367)3.21830187
28Neurofibrillary tangles (HP:0002185)3.19013044
29Urinary bladder sphincter dysfunction (HP:0002839)3.17342389
30Poor eye contact (HP:0000817)3.17186780
31Torticollis (HP:0000473)3.15140953
32Abnormality of the corticospinal tract (HP:0002492)3.12309818
33Dysmetria (HP:0001310)3.10436260
34Akinesia (HP:0002304)3.08027498
35Gaze-evoked nystagmus (HP:0000640)3.07269014
36Urinary urgency (HP:0000012)3.05169595
37Excessive salivation (HP:0003781)3.02225999
38EEG with generalized epileptiform discharges (HP:0011198)2.99099985
39Hemiparesis (HP:0001269)2.97551203
40Hemiplegia (HP:0002301)2.92973751
41Papilledema (HP:0001085)2.89893282
42Polyphagia (HP:0002591)2.89247312
43Hypsarrhythmia (HP:0002521)2.84820684
44Amblyopia (HP:0000646)2.74639372
45Dysdiadochokinesis (HP:0002075)2.73242773
46Impaired social interactions (HP:0000735)2.72745627
47Abnormal social behavior (HP:0012433)2.72745627
48Lower limb muscle weakness (HP:0007340)2.71304162
49Intention tremor (HP:0002080)2.69280105
50Cerebral hypomyelination (HP:0006808)2.68131249
51Anxiety (HP:0000739)2.64060724
52Bradykinesia (HP:0002067)2.57305621
53Absent speech (HP:0001344)2.55124043
54Cerebral inclusion bodies (HP:0100314)2.53328533
55Morphological abnormality of the pyramidal tract (HP:0002062)2.51671987
56Impaired smooth pursuit (HP:0007772)2.51095061
57Focal dystonia (HP:0004373)2.50143052
58Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.47722760
59Degeneration of the lateral corticospinal tracts (HP:0002314)2.47722760
60* Status epilepticus (HP:0002133)2.47309498
61Depression (HP:0000716)2.47268229
62Amyotrophic lateral sclerosis (HP:0007354)2.44391954
63Abnormality of the lower motor neuron (HP:0002366)2.38450601
64Delusions (HP:0000746)2.31713831
65Craniofacial dystonia (HP:0012179)2.29825542
66Scanning speech (HP:0002168)2.29530397
67Clonus (HP:0002169)2.26434612
68Impaired vibratory sensation (HP:0002495)2.25662913
69Fetal akinesia sequence (HP:0001989)2.24990234
70Inability to walk (HP:0002540)2.24917145
71Sleep apnea (HP:0010535)2.22486853
72Genetic anticipation (HP:0003743)2.21091291
73Neuronal loss in central nervous system (HP:0002529)2.20788155
74Abnormality of ocular smooth pursuit (HP:0000617)2.19967964
75Tetraplegia (HP:0002445)2.12021343
76Protruding tongue (HP:0010808)2.11149143
77Peripheral hypomyelination (HP:0007182)2.08737415
78Gait imbalance (HP:0002141)2.08477462
79Agitation (HP:0000713)2.08363088
80Obstructive sleep apnea (HP:0002870)2.04806161
81Annular pancreas (HP:0001734)2.04037654
82Stereotypic behavior (HP:0000733)2.03822225
83Rigidity (HP:0002063)2.02047624
84Apathy (HP:0000741)1.99726143
85Spastic tetraparesis (HP:0001285)1.95784090
86Incomplete penetrance (HP:0003829)1.94665688
87Abnormality of salivation (HP:0100755)1.94259247
88Pheochromocytoma (HP:0002666)1.92830760
89CNS hypomyelination (HP:0003429)1.88933055
90Rapidly progressive (HP:0003678)1.87909637
91Prolonged QT interval (HP:0001657)1.86961705
92Generalized myoclonic seizures (HP:0002123)1.84418288
93Muscular hypotonia of the trunk (HP:0008936)1.81270411
94Megalencephaly (HP:0001355)1.79792168
95Paraplegia (HP:0010550)1.79447933
96Gait ataxia (HP:0002066)1.79356089
97Dysmetric saccades (HP:0000641)1.78825420
98Abnormal EKG (HP:0003115)1.77725332
99Diminished motivation (HP:0000745)1.77522773
100Inappropriate behavior (HP:0000719)1.76996230

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK15.42315747
2CASK4.38315942
3EPHA44.27864055
4NTRK33.84179797
5NTRK22.87471572
6DAPK22.84236685
7PAK62.80818656
8MAPK132.74763798
9UHMK12.48844271
10MINK12.28097466
11MAP3K92.22062849
12CAMKK12.14346752
13MAP3K42.05257334
14CAMKK21.80341531
15MAP2K71.70907643
16NTRK11.70403680
17SIK21.69617661
18PINK11.67195986
19PRKCG1.59797677
20CAMK2B1.56843755
21CDK51.55059523
22PLK21.51269637
23PRKD31.49460031
24PHKG11.35753670
25PHKG21.35753670
26SGK4941.31530902
27SGK2231.31530902
28LATS21.31312715
29CAMK2A1.29028705
30DAPK11.26403091
31MAP2K41.25391587
32CDK191.22764694
33GRK51.22645489
34CAMK11.20667908
35PAK31.18577380
36PNCK1.14217051
37CSNK1G21.12178806
38DYRK1A1.09166453
39SGK21.07339302
40CDK151.07320264
41CDK181.06100275
42TYRO31.02275626
43CDK140.99790597
44CDK11A0.96426938
45RIPK40.95002738
46CAMK40.91630994
47PRKCH0.91518656
48CCNB10.90103763
49FRK0.83435466
50MAP3K120.83309103
51OXSR10.81038983
52MAPK120.78623656
53PKN10.77853898
54DYRK20.77467305
55CAMK2G0.74092514
56WNK30.73595194
57* SGK10.72088179
58STK110.71622110
59KSR20.71592977
60RIPK10.69029906
61SGK30.68674616
62STK380.66983658
63MARK20.66723495
64PRKCE0.64164107
65CSNK1G30.62729113
66PRKCZ0.62121689
67ARAF0.61545284
68CAMK2D0.59657615
69ADRBK20.58991564
70TNIK0.58873425
71MAPKAPK50.58326486
72KSR10.57952309
73MAPK100.55915700
74* RPS6KA30.55749178
75BCR0.55148646
76ALK0.53658191
77CSNK1A1L0.47558657
78WNK10.45900904
79CSNK1G10.42475374
80MAP3K110.41279380
81FYN0.40639618
82BMPR20.38978698
83CAMK1G0.37986221
84LIMK10.37757725
85PRKG10.37663577
86PRKACA0.37344236
87PDK10.36847008
88CSNK1D0.36346996
89MAP4K20.34457154
90FGFR20.34273765
91* PRKCA0.33850822
92CSNK1E0.33542701
93NEK60.32658323
94MAPK40.32398409
95* PRKCB0.32218990
96ROCK20.30808948
97RET0.30750367
98CSNK1A10.29042088
99PRKACB0.26917456
100MAPK80.25748771

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050335.26536283
2Synaptic vesicle cycle_Homo sapiens_hsa047213.70129828
3GABAergic synapse_Homo sapiens_hsa047273.11715005
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.07023124
5Glutamatergic synapse_Homo sapiens_hsa047242.96878161
6Morphine addiction_Homo sapiens_hsa050322.95540289
7Amphetamine addiction_Homo sapiens_hsa050312.95283996
8Circadian entrainment_Homo sapiens_hsa047132.92740868
9Long-term potentiation_Homo sapiens_hsa047202.83488351
10Cocaine addiction_Homo sapiens_hsa050302.44417975
11Dopaminergic synapse_Homo sapiens_hsa047282.41770046
12Insulin secretion_Homo sapiens_hsa049112.32351376
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05713763
14Gastric acid secretion_Homo sapiens_hsa049711.91879249
15Cholinergic synapse_Homo sapiens_hsa047251.83212736
16Salivary secretion_Homo sapiens_hsa049701.82504329
17* Taste transduction_Homo sapiens_hsa047421.81262842
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76808282
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62643764
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.59634905
21Long-term depression_Homo sapiens_hsa047301.57492846
22Oxytocin signaling pathway_Homo sapiens_hsa049211.55434033
23Calcium signaling pathway_Homo sapiens_hsa040201.52905783
24Renin secretion_Homo sapiens_hsa049241.51464877
25Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.50968290
26Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.46777973
27Serotonergic synapse_Homo sapiens_hsa047261.43760811
28cAMP signaling pathway_Homo sapiens_hsa040241.39148598
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.31596528
30Olfactory transduction_Homo sapiens_hsa047401.29527103
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27580302
32Gap junction_Homo sapiens_hsa045401.18917141
33Collecting duct acid secretion_Homo sapiens_hsa049661.16272948
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15163346
35Estrogen signaling pathway_Homo sapiens_hsa049151.12841736
36GnRH signaling pathway_Homo sapiens_hsa049121.10916108
37Phototransduction_Homo sapiens_hsa047441.04577104
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03924162
39Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03201087
40Axon guidance_Homo sapiens_hsa043601.02936853
41Cardiac muscle contraction_Homo sapiens_hsa042600.98632456
42cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95728574
43Type II diabetes mellitus_Homo sapiens_hsa049300.92997590
44Pancreatic secretion_Homo sapiens_hsa049720.90294239
45Melanogenesis_Homo sapiens_hsa049160.84623925
46ErbB signaling pathway_Homo sapiens_hsa040120.82403163
47Oocyte meiosis_Homo sapiens_hsa041140.80272599
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78553596
49Glioma_Homo sapiens_hsa052140.78494158
50Vitamin B6 metabolism_Homo sapiens_hsa007500.76610949
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.74925479
52Thyroid hormone synthesis_Homo sapiens_hsa049180.74852515
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.73624639
54Dorso-ventral axis formation_Homo sapiens_hsa043200.72879280
55Vibrio cholerae infection_Homo sapiens_hsa051100.69654472
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68177810
57Ras signaling pathway_Homo sapiens_hsa040140.67765969
58Bile secretion_Homo sapiens_hsa049760.66403969
59MAPK signaling pathway_Homo sapiens_hsa040100.66129588
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.65200959
61Rap1 signaling pathway_Homo sapiens_hsa040150.59136149
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56836517
63Alcoholism_Homo sapiens_hsa050340.55189984
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.51266332
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.50941564
66Glucagon signaling pathway_Homo sapiens_hsa049220.49594598
67Dilated cardiomyopathy_Homo sapiens_hsa054140.48756188
68Circadian rhythm_Homo sapiens_hsa047100.47312121
69Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46924343
70Inositol phosphate metabolism_Homo sapiens_hsa005620.46584832
71Fatty acid biosynthesis_Homo sapiens_hsa000610.42682746
72Alzheimers disease_Homo sapiens_hsa050100.42391239
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.41653616
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40892911
75Choline metabolism in cancer_Homo sapiens_hsa052310.39466773
76Prion diseases_Homo sapiens_hsa050200.38427575
77Ovarian steroidogenesis_Homo sapiens_hsa049130.38045643
78VEGF signaling pathway_Homo sapiens_hsa043700.36977636
79Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.35870000
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35413094
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34328500
82Butanoate metabolism_Homo sapiens_hsa006500.33859403
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.33373733
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28055712
85Wnt signaling pathway_Homo sapiens_hsa043100.27734954
86Endocytosis_Homo sapiens_hsa041440.26070817
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25185510
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.24973857
89Mineral absorption_Homo sapiens_hsa049780.24548049
90Arginine biosynthesis_Homo sapiens_hsa002200.23438828
91mTOR signaling pathway_Homo sapiens_hsa041500.21088987
92Ether lipid metabolism_Homo sapiens_hsa005650.21071528
93Regulation of autophagy_Homo sapiens_hsa041400.19980280
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.18362442
95Histidine metabolism_Homo sapiens_hsa003400.18237082
96AMPK signaling pathway_Homo sapiens_hsa041520.16508939
97Tight junction_Homo sapiens_hsa045300.16438574
98Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.15147572
99ABC transporters_Homo sapiens_hsa020100.14928377
100Arginine and proline metabolism_Homo sapiens_hsa003300.13352707

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