SCN2B

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 protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular potassium ion homeostasis (GO:0030007)6.08716424
2vocalization behavior (GO:0071625)5.90962160
3* membrane depolarization during cardiac muscle cell action potential (GO:0086012)5.83204465
4synaptic vesicle docking involved in exocytosis (GO:0016081)5.80590729
5synaptic vesicle exocytosis (GO:0016079)5.75238324
6regulation of short-term neuronal synaptic plasticity (GO:0048172)5.64203224
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.48076496
8neurotransmitter-gated ion channel clustering (GO:0072578)5.47678255
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.47299448
10sodium ion export (GO:0071436)5.45591977
11regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.30591499
12glutamate secretion (GO:0014047)5.26584265
13neuronal action potential propagation (GO:0019227)5.17840070
14regulation of synaptic vesicle exocytosis (GO:2000300)5.14985579
15regulation of glutamate receptor signaling pathway (GO:1900449)5.10441218
16neuron cell-cell adhesion (GO:0007158)4.98073002
17negative regulation of synaptic transmission, GABAergic (GO:0032229)4.93714828
18neurotransmitter secretion (GO:0007269)4.84969673
19neuron-neuron synaptic transmission (GO:0007270)4.76601036
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.75883253
21protein localization to synapse (GO:0035418)4.70916550
22presynaptic membrane assembly (GO:0097105)4.66471745
23synaptic vesicle maturation (GO:0016188)4.64631267
24locomotory exploration behavior (GO:0035641)4.60434639
25synaptic transmission, glutamatergic (GO:0035249)4.59294222
26L-amino acid import (GO:0043092)4.55327272
27regulation of synaptic vesicle transport (GO:1902803)4.53285613
28cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.52253375
29presynaptic membrane organization (GO:0097090)4.41066209
30gamma-aminobutyric acid transport (GO:0015812)4.36558322
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.31203713
32postsynaptic membrane organization (GO:0001941)4.30136713
33glutamate receptor signaling pathway (GO:0007215)4.28572918
34positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.22945971
35potassium ion import (GO:0010107)4.20529924
36long-term synaptic potentiation (GO:0060291)4.16343462
37dendritic spine morphogenesis (GO:0060997)4.14365632
38potassium ion homeostasis (GO:0055075)4.10500834
39regulation of excitatory postsynaptic membrane potential (GO:0060079)4.00785805
40central nervous system myelination (GO:0022010)4.00778464
41axon ensheathment in central nervous system (GO:0032291)4.00778464
42cerebellar granule cell differentiation (GO:0021707)3.92104562
43response to histamine (GO:0034776)3.92067458
44regulation of long-term neuronal synaptic plasticity (GO:0048169)3.91433006
45negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.89171999
46amino acid import (GO:0043090)3.89146348
47regulation of synaptic transmission, glutamatergic (GO:0051966)3.88281009
48positive regulation of dendritic spine development (GO:0060999)3.87965447
49positive regulation of synapse maturation (GO:0090129)3.83889233
50cell communication by electrical coupling (GO:0010644)3.83221977
51regulation of neuronal synaptic plasticity (GO:0048168)3.81408565
52neurotransmitter transport (GO:0006836)3.81153217
53neuromuscular process controlling balance (GO:0050885)3.79734644
54positive regulation of membrane potential (GO:0045838)3.79023557
55regulation of postsynaptic membrane potential (GO:0060078)3.78229844
56transferrin transport (GO:0033572)3.77317787
57cellular sodium ion homeostasis (GO:0006883)3.75517383
58regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.74565437
59startle response (GO:0001964)3.72728145
60energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.71908865
61ATP hydrolysis coupled proton transport (GO:0015991)3.71908865
62positive regulation of neurotransmitter transport (GO:0051590)3.70205683
63neuronal ion channel clustering (GO:0045161)3.69917966
64negative regulation of dendrite morphogenesis (GO:0050774)3.69049028
65* membrane depolarization during action potential (GO:0086010)3.68133555
66exploration behavior (GO:0035640)3.68053039
67mechanosensory behavior (GO:0007638)3.64260130
68striatum development (GO:0021756)3.63709852
69long-term memory (GO:0007616)3.62909347
70regulation of synapse structural plasticity (GO:0051823)3.60786771
71positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.60483636
72regulation of dendritic spine morphogenesis (GO:0061001)3.60353585
73cerebellar Purkinje cell differentiation (GO:0021702)3.60002804
74regulation of synaptic plasticity (GO:0048167)3.59721744
75behavioral response to cocaine (GO:0048148)3.57897353
76* regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.57245101
77regulation of neurotransmitter levels (GO:0001505)3.56935112
78regulation of neurotransmitter secretion (GO:0046928)3.56504571
79trivalent inorganic cation transport (GO:0072512)3.51363756
80ferric iron transport (GO:0015682)3.51363756
81neurotransmitter uptake (GO:0001504)3.49859171
82G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.49335567
83neuromuscular synaptic transmission (GO:0007274)3.47191240
84regulation of glutamate secretion (GO:0014048)3.46734009
85positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.45800354
86positive regulation of dendritic spine morphogenesis (GO:0061003)3.45387181
87regulation of female receptivity (GO:0045924)3.43737636
88positive regulation of synaptic transmission, GABAergic (GO:0032230)3.43656540
89regulation of neurotransmitter transport (GO:0051588)3.42894425
90neuromuscular process controlling posture (GO:0050884)3.42425302
91positive regulation of neurotransmitter secretion (GO:0001956)3.41869163
92regulation of dendritic spine development (GO:0060998)3.41648171
93female mating behavior (GO:0060180)3.41458083
94regulation of synaptic transmission, GABAergic (GO:0032228)3.40882745
95layer formation in cerebral cortex (GO:0021819)3.39553692
96positive regulation of synaptic transmission (GO:0050806)3.37783306
97auditory behavior (GO:0031223)3.36627639
98cell differentiation in hindbrain (GO:0021533)3.32648212
99proline transport (GO:0015824)3.31136665
100transmission of nerve impulse (GO:0019226)3.26721429
101detection of calcium ion (GO:0005513)3.26682068
102behavioral defense response (GO:0002209)3.23907035
103behavioral fear response (GO:0001662)3.23907035
104regulation of synapse maturation (GO:0090128)3.23603652
105acidic amino acid transport (GO:0015800)3.22815396
106* synaptic transmission (GO:0007268)3.22002377
107negative regulation of dendrite development (GO:2000171)3.21989582
108positive regulation of synapse assembly (GO:0051965)3.21575762
109regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.19971057
110regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.19971057
111learning (GO:0007612)3.18263363
112regulation of ARF protein signal transduction (GO:0032012)3.17303740
113cell communication involved in cardiac conduction (GO:0086065)3.16748354
114synaptic vesicle endocytosis (GO:0048488)3.16192833
115regulation of synaptic transmission (GO:0050804)3.15735762
116primary amino compound metabolic process (GO:1901160)3.15503946
117long term synaptic depression (GO:0060292)3.15188601
118activation of protein kinase A activity (GO:0034199)3.14715446
119neuromuscular process (GO:0050905)3.13596291
120regulation of cell communication by electrical coupling (GO:0010649)3.13252896
121* membrane depolarization (GO:0051899)3.12890591
122membrane hyperpolarization (GO:0060081)3.10396795
123regulation of voltage-gated calcium channel activity (GO:1901385)3.10243958
124chemosensory behavior (GO:0007635)3.09279085
125positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.08986099
126response to auditory stimulus (GO:0010996)3.07548130
127fear response (GO:0042596)3.05376369
128cellular potassium ion transport (GO:0071804)3.05051662
129potassium ion transmembrane transport (GO:0071805)3.05051662
130synaptic transmission, dopaminergic (GO:0001963)3.03710525
131dendritic spine organization (GO:0097061)3.03686054
132synapse assembly (GO:0007416)3.01058912
133neuron recognition (GO:0008038)3.00746360
134serotonin metabolic process (GO:0042428)3.00098913
135regulation of vesicle fusion (GO:0031338)2.99325334
136regulation of neurotransmitter uptake (GO:0051580)2.96040743
137NADH metabolic process (GO:0006734)2.95877648

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.57320787
2GBX2_23144817_ChIP-Seq_PC3_Human4.75926265
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.22375779
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09793431
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.95621160
6TAF15_26573619_Chip-Seq_HEK293_Human2.75722594
7REST_21632747_ChIP-Seq_MESCs_Mouse2.73053445
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64867371
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53145833
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53145833
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50044270
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48411567
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46824182
14* RARB_27405468_Chip-Seq_BRAIN_Mouse2.43992524
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.42564325
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.41319675
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.35884441
18MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33102933
19REST_18959480_ChIP-ChIP_MESCs_Mouse2.32407039
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.28280629
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.28251683
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.27662553
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.22932990
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.12223810
25DROSHA_22980978_ChIP-Seq_HELA_Human2.11610568
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.06263688
27SUZ12_27294783_Chip-Seq_ESCs_Mouse2.02331286
28CTBP1_25329375_ChIP-Seq_LNCAP_Human2.01288673
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.98959843
30SMAD4_21799915_ChIP-Seq_A2780_Human1.96533691
31EZH2_27294783_Chip-Seq_ESCs_Mouse1.96441328
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91238316
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90074736
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88525925
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.87352216
36P300_19829295_ChIP-Seq_ESCs_Human1.79730810
37AR_21572438_ChIP-Seq_LNCaP_Human1.67682310
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.62054160
39POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61707948
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57571781
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.57145680
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.56080059
43* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.50067475
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.48213416
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.48123542
46AR_25329375_ChIP-Seq_VCAP_Human1.47149790
47FUS_26573619_Chip-Seq_HEK293_Human1.41633000
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.41570704
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.41455578
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.40215430
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.39624160
52RNF2_27304074_Chip-Seq_NSC_Mouse1.36023588
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35817611
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.34282315
55STAT3_23295773_ChIP-Seq_U87_Human1.33436597
56VDR_22108803_ChIP-Seq_LS180_Human1.30476507
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30276011
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30124881
59TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.29995710
60ERG_21242973_ChIP-ChIP_JURKAT_Human1.27873499
61TCF4_23295773_ChIP-Seq_U87_Human1.26436366
62ER_23166858_ChIP-Seq_MCF-7_Human1.22845953
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20168808
64RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17251415
65WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15069740
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.13520358
67RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13014494
68CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12600093
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.12549181
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12358270
71IGF1R_20145208_ChIP-Seq_DFB_Human1.12074756
72MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11985516
73RUNX2_22187159_ChIP-Seq_PCA_Human1.11712759
74* AR_19668381_ChIP-Seq_PC3_Human1.10194015
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09927685
76ZNF274_21170338_ChIP-Seq_K562_Hela1.08426341
77NANOG_18555785_Chip-Seq_ESCs_Mouse1.08111349
78PRDM14_20953172_ChIP-Seq_ESCs_Human1.07988864
79JUN_21703547_ChIP-Seq_K562_Human1.07742071
80P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06091451
81CTCF_27219007_Chip-Seq_Bcells_Human1.05766862
82RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05104218
83AHR_22903824_ChIP-Seq_MCF-7_Human1.05093089
84RING1B_27294783_Chip-Seq_NPCs_Mouse1.04609070
85GATA1_26923725_Chip-Seq_HPCs_Mouse1.04577123
86EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03853080
87KDM2B_26808549_Chip-Seq_K562_Human1.03036898
88* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.03020785
89MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.02548958
90TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02005578
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00858910
92DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00483960
93CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.98397701
94RING1B_27294783_Chip-Seq_ESCs_Mouse0.97770986
95SOX9_26525672_Chip-Seq_HEART_Mouse0.97341295
96TET1_21490601_ChIP-Seq_MESCs_Mouse0.96658618
97E2F1_18555785_Chip-Seq_ESCs_Mouse0.95360341
98* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.95283975
99VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94868055
100P53_22387025_ChIP-Seq_ESCs_Mouse0.93194239
101TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92395652
102FLI1_27457419_Chip-Seq_LIVER_Mouse0.91861530
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91567880
104TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91567880
105* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.91344440
106ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91311432
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.91106828
108KDM2B_26808549_Chip-Seq_REH_Human0.91022264
109CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.90634162
110BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.89856955
111ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89430995
112PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89078062
113EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87951213
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.87815826
115NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87662396
116OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87160515
117OCT4_19829295_ChIP-Seq_ESCs_Human0.87047090
118SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85656920
119TP53_20018659_ChIP-ChIP_R1E_Mouse0.84903928
120SMAD4_21741376_ChIP-Seq_HESCs_Human0.82404575
121TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.82291887
122GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82284483
123CDX2_19796622_ChIP-Seq_MESCs_Mouse0.81874386
124SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.80698104
125SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.80406632
126LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79293084
127DPY_21335234_ChIP-Seq_ESCs_Mouse0.78331379
128SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77133223
129CTNNB1_20460455_ChIP-Seq_HCT116_Human0.76309247

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.60122498
2MP0003880_abnormal_central_pattern5.15200414
3MP0003635_abnormal_synaptic_transmissio4.12456799
4MP0009046_muscle_twitch3.92460518
5* MP0009745_abnormal_behavioral_response3.68606518
6MP0002822_catalepsy3.66881218
7* MP0002064_seizures3.45602561
8MP0002063_abnormal_learning/memory/cond3.34481929
9MP0001968_abnormal_touch/_nociception3.30191700
10MP0004270_analgesia3.15327283
11MP0002572_abnormal_emotion/affect_behav3.02212697
12MP0002736_abnormal_nociception_after2.89875235
13* MP0002272_abnormal_nervous_system2.80598927
14MP0001501_abnormal_sleep_pattern2.60397319
15MP0002734_abnormal_mechanical_nocicepti2.55076322
16MP0001486_abnormal_startle_reflex2.52209177
17MP0002735_abnormal_chemical_nociception2.39672000
18MP0003787_abnormal_imprinting2.33662946
19MP0005646_abnormal_pituitary_gland2.31481106
20MP0002067_abnormal_sensory_capabilities2.22924712
21MP0001440_abnormal_grooming_behavior2.14490789
22MP0009780_abnormal_chondrocyte_physiolo2.02579775
23MP0005423_abnormal_somatic_nervous2.00977654
24MP0003879_abnormal_hair_cell2.00521675
25MP0008569_lethality_at_weaning1.97807097
26MP0001970_abnormal_pain_threshold1.93549887
27MP0001529_abnormal_vocalization1.86006204
28MP0002733_abnormal_thermal_nociception1.84824446
29MP0003122_maternal_imprinting1.81414139
30MP0005386_behavior/neurological_phenoty1.75052959
31MP0004924_abnormal_behavior1.75052959
32MP0004142_abnormal_muscle_tone1.74091228
33MP0002557_abnormal_social/conspecific_i1.73774249
34MP0001984_abnormal_olfaction1.68751025
35MP0001188_hyperpigmentation1.68464768
36MP0002184_abnormal_innervation1.63775816
37MP0006276_abnormal_autonomic_nervous1.63104782
38MP0002876_abnormal_thyroid_physiology1.56456688
39MP0004811_abnormal_neuron_physiology1.50820137
40MP0001905_abnormal_dopamine_level1.41680505
41MP0002066_abnormal_motor_capabilities/c1.39722257
42MP0000920_abnormal_myelination1.36166958
43MP0002909_abnormal_adrenal_gland1.34693430
44MP0005645_abnormal_hypothalamus_physiol1.30610468
45MP0000778_abnormal_nervous_system1.29885351
46MP0004147_increased_porphyrin_level1.29438068
47MP0000955_abnormal_spinal_cord1.27579444
48MP0002882_abnormal_neuron_morphology1.24252227
49MP0003633_abnormal_nervous_system1.20544592
50MP0008872_abnormal_physiological_respon1.14691130
51MP0003329_amyloid_beta_deposits1.11577117
52MP0002837_dystrophic_cardiac_calcinosis1.11554447
53MP0001502_abnormal_circadian_rhythm1.07351081
54MP0003646_muscle_fatigue1.07145714
55MP0000751_myopathy1.06999437
56MP0004858_abnormal_nervous_system1.04961080
57MP0008877_abnormal_DNA_methylation1.03705684
58MP0003631_nervous_system_phenotype1.02949324
59MP0004130_abnormal_muscle_cell1.02907757
60MP0000013_abnormal_adipose_tissue1.02305473
61MP0001348_abnormal_lacrimal_gland0.93852038
62MP0010386_abnormal_urinary_bladder0.93768789
63MP0008874_decreased_physiological_sensi0.93657454
64MP0002069_abnormal_eating/drinking_beha0.93458104
65MP0001963_abnormal_hearing_physiology0.92217123
66MP0005167_abnormal_blood-brain_barrier0.91771697
67MP0002152_abnormal_brain_morphology0.90954200
68MP0004885_abnormal_endolymph0.90759315
69MP0005171_absent_coat_pigmentation0.90681897
70MP0002229_neurodegeneration0.89221285
71MP0003183_abnormal_peptide_metabolism0.87314474
72MP0004085_abnormal_heartbeat0.86785796
73MP0001986_abnormal_taste_sensitivity0.84937120
74MP0004043_abnormal_pH_regulation0.83139774
75MP0005551_abnormal_eye_electrophysiolog0.82751465
76MP0005499_abnormal_olfactory_system0.81391011
77MP0005394_taste/olfaction_phenotype0.81391011
78MP0004215_abnormal_myocardial_fiber0.81331348
79MP0001177_atelectasis0.81178318
80MP0001664_abnormal_digestion0.80345183
81MP0004484_altered_response_of0.80024343
82MP0004742_abnormal_vestibular_system0.79248880
83MP0000604_amyloidosis0.75504272
84MP0003283_abnormal_digestive_organ0.74615967
85MP0005535_abnormal_body_temperature0.73389620
86MP0004145_abnormal_muscle_electrophysio0.72725658
87MP0003121_genomic_imprinting0.72438798
88MP0001346_abnormal_lacrimal_gland0.70368310
89MP0000631_abnormal_neuroendocrine_gland0.68415847
90MP0003632_abnormal_nervous_system0.66359863
91MP0002653_abnormal_ependyma_morphology0.62894394
92MP0002752_abnormal_somatic_nervous0.62871671
93MP0003075_altered_response_to0.62587862
94MP0001485_abnormal_pinna_reflex0.60843657
95MP0003123_paternal_imprinting0.60084451
96MP0004233_abnormal_muscle_weight0.59913480
97MP0001943_abnormal_respiration0.55937676
98MP0006292_abnormal_olfactory_placode0.55809445
99MP0006035_abnormal_mitochondrial_morpho0.55095322
100MP0002638_abnormal_pupillary_reflex0.54409847
101MP0008260_abnormal_autophagy0.53957312
102MP0003938_abnormal_ear_development0.53806360
103MP0002332_abnormal_exercise_endurance0.53004898
104MP0010770_preweaning_lethality0.52591161
105MP0002082_postnatal_lethality0.52591161
106MP0000026_abnormal_inner_ear0.52315296
107MP0001765_abnormal_ion_homeostasis0.51817813
108MP0000569_abnormal_digit_pigmentation0.51651363
109MP0003137_abnormal_impulse_conducting0.51289987
110MP0010769_abnormal_survival0.51114314
111MP0003634_abnormal_glial_cell0.49113352
112MP0003690_abnormal_glial_cell0.49035626
113MP0003956_abnormal_body_size0.48770030
114MP0010768_mortality/aging0.48119340
115MP0002090_abnormal_vision0.46121083

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.25946538
2Atonic seizures (HP:0010819)6.53659205
3Epileptic encephalopathy (HP:0200134)5.93572640
4Myokymia (HP:0002411)5.89050922
5Febrile seizures (HP:0002373)5.88546277
6Focal seizures (HP:0007359)5.79701061
7Hyperventilation (HP:0002883)4.86045702
8Absence seizures (HP:0002121)4.81539268
9Dialeptic seizures (HP:0011146)4.41104433
10Progressive cerebellar ataxia (HP:0002073)4.34168570
11Visual hallucinations (HP:0002367)4.29107464
12Supranuclear gaze palsy (HP:0000605)4.28192540
13Generalized tonic-clonic seizures (HP:0002069)4.02367019
14Gaze-evoked nystagmus (HP:0000640)3.92683733
15Broad-based gait (HP:0002136)3.85816292
16Abnormal hair whorl (HP:0010721)3.54969123
17Mutism (HP:0002300)3.44563550
18Papilledema (HP:0001085)3.34317197
19Dysdiadochokinesis (HP:0002075)3.33424959
20Abnormal eating behavior (HP:0100738)3.31768922
21Cerebral hypomyelination (HP:0006808)3.31136542
22Impaired vibration sensation in the lower limbs (HP:0002166)3.23737217
23Dysmetric saccades (HP:0000641)3.15106451
24Pheochromocytoma (HP:0002666)3.12731675
25Neurofibrillary tangles (HP:0002185)3.12303724
26Poor eye contact (HP:0000817)3.04243805
27Action tremor (HP:0002345)3.01229078
28Intention tremor (HP:0002080)2.99952080
29Tetraplegia (HP:0002445)2.98419360
30Scanning speech (HP:0002168)2.96571562
31Truncal ataxia (HP:0002078)2.94525400
32Neuroendocrine neoplasm (HP:0100634)2.91178456
33Obstructive sleep apnea (HP:0002870)2.86542789
34Abnormal social behavior (HP:0012433)2.85061955
35Impaired social interactions (HP:0000735)2.85061955
36Depression (HP:0000716)2.80180510
37Polyphagia (HP:0002591)2.77553173
38Anxiety (HP:0000739)2.76260995
39Akinesia (HP:0002304)2.75663723
40Progressive inability to walk (HP:0002505)2.75056450
41Dysmetria (HP:0001310)2.73436816
42Gait imbalance (HP:0002141)2.72988753
43Delusions (HP:0000746)2.69652259
44Abnormality of binocular vision (HP:0011514)2.69002376
45Diplopia (HP:0000651)2.69002376
46Amblyopia (HP:0000646)2.66424437
47Epileptiform EEG discharges (HP:0011182)2.63597362
48Poor suck (HP:0002033)2.63394168
49Failure to thrive in infancy (HP:0001531)2.63277086
50Impaired smooth pursuit (HP:0007772)2.62465927
51Ventricular fibrillation (HP:0001663)2.61862866
52Resting tremor (HP:0002322)2.59388899
53Congenital primary aphakia (HP:0007707)2.57478119
54Abnormal mitochondria in muscle tissue (HP:0008316)2.56260023
55Abnormality of the corticospinal tract (HP:0002492)2.55670623
56Medial flaring of the eyebrow (HP:0010747)2.53366717
57Bundle branch block (HP:0011710)2.51371120
58Nephrogenic diabetes insipidus (HP:0009806)2.48827963
59Protruding tongue (HP:0010808)2.48567845
60Acute necrotizing encephalopathy (HP:0006965)2.48494380
61Oligomenorrhea (HP:0000876)2.45049905
62Lower limb muscle weakness (HP:0007340)2.43805337
63Fetal akinesia sequence (HP:0001989)2.42877088
64Status epilepticus (HP:0002133)2.42192180
65Cerebral inclusion bodies (HP:0100314)2.41789428
66Inability to walk (HP:0002540)2.40755316
67Impaired vibratory sensation (HP:0002495)2.40248278
68Drooling (HP:0002307)2.38305478
69Excessive salivation (HP:0003781)2.38305478
70Urinary bladder sphincter dysfunction (HP:0002839)2.36980856
71Blue irides (HP:0000635)2.32809619
72Clonus (HP:0002169)2.32094905
73EEG with generalized epileptiform discharges (HP:0011198)2.30230102
74Genetic anticipation (HP:0003743)2.29199819
75Neuronal loss in central nervous system (HP:0002529)2.28496619
76Abnormality of ocular smooth pursuit (HP:0000617)2.27876969
77Bradykinesia (HP:0002067)2.27552544
78Ankle clonus (HP:0011448)2.26864273
79Abnormality of the lower motor neuron (HP:0002366)2.26008414
80Abnormality of the labia minora (HP:0012880)2.24123869
81Progressive macrocephaly (HP:0004481)2.23991016
82Postural instability (HP:0002172)2.20366746
83Specific learning disability (HP:0001328)2.19104016
84Spastic tetraparesis (HP:0001285)2.18489329
85Hypsarrhythmia (HP:0002521)2.16028669
86Absent speech (HP:0001344)2.15251027
87Limb dystonia (HP:0002451)2.14895763
88Hemiplegia (HP:0002301)2.14525052
89Rigidity (HP:0002063)2.14334505
90Annular pancreas (HP:0001734)2.11120057
91Narrow nasal bridge (HP:0000446)2.10734573
92Focal dystonia (HP:0004373)2.10704284
93Morphological abnormality of the pyramidal tract (HP:0002062)2.10197846
94Heart block (HP:0012722)2.08224644
95Torticollis (HP:0000473)2.07976982
96Choreoathetosis (HP:0001266)2.04806711
97CNS hypomyelination (HP:0003429)2.04574166
98Prolonged QT interval (HP:0001657)2.04248215
99Stereotypic behavior (HP:0000733)2.01942035
100Hemiparesis (HP:0001269)2.01000959
101Gait ataxia (HP:0002066)2.00389261
102Syncope (HP:0001279)1.99977847
103Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.98205584
104Degeneration of the lateral corticospinal tracts (HP:0002314)1.98205584
105Incomplete penetrance (HP:0003829)1.98198784
106Poor coordination (HP:0002370)1.97792266
107Generalized myoclonic seizures (HP:0002123)1.97540711
108Mitochondrial inheritance (HP:0001427)1.96303819
109Abnormal EKG (HP:0003115)1.94653334
110Abnormality of saccadic eye movements (HP:0000570)1.93746842
111Hyperthyroidism (HP:0000836)1.93676844
112Sleep apnea (HP:0010535)1.93559655
113Sensory axonal neuropathy (HP:0003390)1.93263757
114Generalized hypotonia (HP:0001290)1.91890038
115Esotropia (HP:0000565)1.90905735
116Spinal canal stenosis (HP:0003416)1.90373383
117Hypoventilation (HP:0002791)1.89502082
118Urinary urgency (HP:0000012)1.89427593
119Apathy (HP:0000741)1.88726567
120Spastic gait (HP:0002064)1.88712498
121Neoplasm of the peripheral nervous system (HP:0100007)1.88700282
122Peripheral hypomyelination (HP:0007182)1.88675990
123Increased circulating renin level (HP:0000848)1.88541105
124Genital tract atresia (HP:0001827)1.87274039
125Vaginal atresia (HP:0000148)1.86738721
126Rapidly progressive (HP:0003678)1.86084688
127Confusion (HP:0001289)1.85671410
128Craniofacial dystonia (HP:0012179)1.83383379
129Hepatocellular necrosis (HP:0001404)1.83021102
130Limb ataxia (HP:0002070)1.81131334
131Acute encephalopathy (HP:0006846)1.80802335
132Abnormality of pain sensation (HP:0010832)1.79286601
133Impaired pain sensation (HP:0007328)1.79286601
134Abnormal atrioventricular conduction (HP:0005150)1.79116320
135Megalencephaly (HP:0001355)1.75496180
136Dyskinesia (HP:0100660)1.73171545
137Insomnia (HP:0100785)1.67034301

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.62382515
2NTRK34.00597796
3EPHA43.61456734
4MAP3K123.43664225
5MAP2K73.30044148
6MAP3K43.14401489
7CDK192.79405420
8DAPK22.53687897
9PRPF4B2.31400598
10MAP3K92.24733252
11DAPK12.20584489
12AKT32.19668127
13MINK12.17000285
14PLK22.09321577
15MAP2K41.95989313
16SIK31.81664573
17TSSK61.79980662
18CCNB11.69714213
19RIPK41.64007442
20NTRK21.62793328
21TNIK1.60626914
22OXSR11.54168512
23SGK21.47888454
24CAMKK21.45399880
25GRK51.42309096
26MARK11.37174398
27PRKCG1.35028725
28SGK4941.32199253
29SGK2231.32199253
30CAMKK11.29099981
31LATS21.28957701
32ARAF1.26206874
33RIPK11.25581121
34CDK51.24093201
35PDK31.19606992
36PDK41.19606992
37TYRO31.18183778
38KSR11.17570772
39MAPK131.16748938
40PAK31.15843526
41FES1.11165959
42PAK61.08598936
43CAMK2A1.06986679
44SGK31.01885515
45NME11.00163859
46CAMK2B0.96073800
47BMPR20.92654065
48BRAF0.90601137
49NTRK10.88732826
50PKN10.86953431
51CDK180.84228911
52MAPK120.84186217
53KSR20.81180058
54STK380.80017116
55PTK2B0.79366788
56CAMK10.77505029
57TNK20.77254907
58ALK0.74770632
59LIMK10.74460131
60BCR0.74064563
61MARK20.74003493
62PRKCE0.73836299
63CDK150.73641422
64PRKD30.72127804
65CDK140.70612151
66PDK20.68734245
67PRKCH0.68090012
68SGK10.67532647
69PINK10.64796043
70ADRBK20.64229544
71BRSK10.63954673
72FRK0.63586824
73NEK10.63037023
74CDK11A0.61888605
75UHMK10.61863614
76SIK20.61204821
77FGFR20.60929364
78DAPK30.58714737
79MAPK100.56101629
80CAMK2G0.55911426
81MYLK0.55690716
82GRK70.54112438
83STK110.53924318
84PNCK0.52901592
85PDK10.52644705
86CDK80.50729222
87CAMK2D0.49941651
88CAMK40.49107347
89DYRK1A0.48332827
90MAP3K130.48081646
91PRKCZ0.47013503
92MUSK0.45961057
93NEK60.45399417
94PDPK10.45245014
95ADRBK10.41776905
96CSNK1G20.41663338
97FER0.41424044
98WNK30.39976852
99RPS6KA30.39937391
100MAPKAPK50.38039304
101CDK30.37599356
102RAF10.37409805
103MAP2K60.37348639
104MAP3K110.37031977
105PRKACA0.36814877
106PRKG10.36543241
107MAP3K20.35258195
108WNK10.35170322
109MKNK20.35107715
110MAP3K10.34826999
111ERBB40.34289678
112MAPK70.33314217
113OBSCN0.31256733
114PRKCB0.30958198
115PRKCA0.30310744
116ROCK10.29980719
117MAP2K10.29980344
118CSNK1A10.29192908
119ROCK20.29098438
120ERBB20.28669215
121PHKG20.28027345
122PHKG10.28027345
123FYN0.27644104
124LMTK20.27375203
125PRKG20.27260827
126STK390.26720693
127INSRR0.24685977
128MAPK80.24364351

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.42736442
2Synaptic vesicle cycle_Homo sapiens_hsa047214.23319590
3Collecting duct acid secretion_Homo sapiens_hsa049663.25274104
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.92241109
5GABAergic synapse_Homo sapiens_hsa047272.86258655
6Olfactory transduction_Homo sapiens_hsa047402.78136538
7Morphine addiction_Homo sapiens_hsa050322.77375630
8Circadian entrainment_Homo sapiens_hsa047132.63900266
9Long-term potentiation_Homo sapiens_hsa047202.52820321
10Amphetamine addiction_Homo sapiens_hsa050312.47900044
11Glutamatergic synapse_Homo sapiens_hsa047242.42093430
12Dopaminergic synapse_Homo sapiens_hsa047282.09744434
13Taste transduction_Homo sapiens_hsa047422.01923685
14Salivary secretion_Homo sapiens_hsa049702.01095074
15Vibrio cholerae infection_Homo sapiens_hsa051101.97070688
16Insulin secretion_Homo sapiens_hsa049111.80516551
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.79701127
18Long-term depression_Homo sapiens_hsa047301.73208951
19Serotonergic synapse_Homo sapiens_hsa047261.68771232
20Calcium signaling pathway_Homo sapiens_hsa040201.65351367
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.62760692
22Cholinergic synapse_Homo sapiens_hsa047251.61198918
23Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.60115575
24Oxidative phosphorylation_Homo sapiens_hsa001901.56267970
25Gastric acid secretion_Homo sapiens_hsa049711.55889218
26Renin secretion_Homo sapiens_hsa049241.55299771
27Cocaine addiction_Homo sapiens_hsa050301.53315129
28Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.51571315
29Aldosterone synthesis and secretion_Homo sapiens_hsa049251.50405954
30Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.46422983
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.43126040
32Oxytocin signaling pathway_Homo sapiens_hsa049211.37350430
33Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.29893319
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21142774
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14797288
36cAMP signaling pathway_Homo sapiens_hsa040241.12153858
37Gap junction_Homo sapiens_hsa045401.10232128
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06616206
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.03201124
40Rheumatoid arthritis_Homo sapiens_hsa053231.01542188
41GnRH signaling pathway_Homo sapiens_hsa049121.01474125
42Parkinsons disease_Homo sapiens_hsa050121.01240751
43Alzheimers disease_Homo sapiens_hsa050100.98913192
44Cardiac muscle contraction_Homo sapiens_hsa042600.97765732
45Phototransduction_Homo sapiens_hsa047440.97513299
46Type I diabetes mellitus_Homo sapiens_hsa049400.92987091
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92056653
48Bile secretion_Homo sapiens_hsa049760.88919290
49Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.88613052
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84262335
51Type II diabetes mellitus_Homo sapiens_hsa049300.82216984
52Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.80651752
53Estrogen signaling pathway_Homo sapiens_hsa049150.78488002
54ErbB signaling pathway_Homo sapiens_hsa040120.77927093
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.77663240
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.76485568
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71268729
582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.71086139
59Melanogenesis_Homo sapiens_hsa049160.70269629
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68345451
61Glioma_Homo sapiens_hsa052140.68169601
62Axon guidance_Homo sapiens_hsa043600.68064249
63Huntingtons disease_Homo sapiens_hsa050160.63651782
64Phagosome_Homo sapiens_hsa041450.62550411
65Oocyte meiosis_Homo sapiens_hsa041140.59916300
66Pancreatic secretion_Homo sapiens_hsa049720.59731621
67Pyruvate metabolism_Homo sapiens_hsa006200.59186196
68MAPK signaling pathway_Homo sapiens_hsa040100.56193180
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55753298
70Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54279238
71Dilated cardiomyopathy_Homo sapiens_hsa054140.53568708
72Nitrogen metabolism_Homo sapiens_hsa009100.53463913
73Thyroid hormone synthesis_Homo sapiens_hsa049180.52070784
74Arginine and proline metabolism_Homo sapiens_hsa003300.51982190
75Inositol phosphate metabolism_Homo sapiens_hsa005620.49763858
76Glucagon signaling pathway_Homo sapiens_hsa049220.46012366
77Alcoholism_Homo sapiens_hsa050340.43982046
78Ras signaling pathway_Homo sapiens_hsa040140.42596440
79Mineral absorption_Homo sapiens_hsa049780.41321194
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40544870
81Arginine biosynthesis_Homo sapiens_hsa002200.39930046
82Circadian rhythm_Homo sapiens_hsa047100.39647076
83Prion diseases_Homo sapiens_hsa050200.39542541
84Histidine metabolism_Homo sapiens_hsa003400.39076220
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.38207854
86VEGF signaling pathway_Homo sapiens_hsa043700.38138385
87Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.34940166
88Rap1 signaling pathway_Homo sapiens_hsa040150.34077695
89Fatty acid biosynthesis_Homo sapiens_hsa000610.33587558
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32556971
91beta-Alanine metabolism_Homo sapiens_hsa004100.31548873
92Choline metabolism in cancer_Homo sapiens_hsa052310.28078445
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.27506715
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.26271681
95Ovarian steroidogenesis_Homo sapiens_hsa049130.24525700
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.24462066
97Wnt signaling pathway_Homo sapiens_hsa043100.23606318
98African trypanosomiasis_Homo sapiens_hsa051430.22849384
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.22641111
100Butanoate metabolism_Homo sapiens_hsa006500.22530423
101Vitamin B6 metabolism_Homo sapiens_hsa007500.22342506
102Dorso-ventral axis formation_Homo sapiens_hsa043200.22290425
103Melanoma_Homo sapiens_hsa052180.21531448
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20624467
105Regulation of autophagy_Homo sapiens_hsa041400.19702488
106Endocytosis_Homo sapiens_hsa041440.19304710
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.19072839
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.18696890
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.18684316
110Ether lipid metabolism_Homo sapiens_hsa005650.18001882
111Fructose and mannose metabolism_Homo sapiens_hsa000510.17884668
112Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.17677579
113Thyroid hormone signaling pathway_Homo sapiens_hsa049190.17630490
114Insulin signaling pathway_Homo sapiens_hsa049100.16695033
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.16520613
116Chemokine signaling pathway_Homo sapiens_hsa040620.15699290

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