CAMK2B

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 product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.37270388
2synaptic vesicle maturation (GO:0016188)6.32098879
3locomotory exploration behavior (GO:0035641)6.24018502
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.05099182
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.72983146
6vocalization behavior (GO:0071625)5.53597890
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.46658218
8synaptic vesicle exocytosis (GO:0016079)5.27062576
9regulation of glutamate receptor signaling pathway (GO:1900449)5.21190495
10regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)5.07625043
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.04313218
12glutamate secretion (GO:0014047)5.01462997
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.97512999
14regulation of synaptic vesicle exocytosis (GO:2000300)4.93119541
15exploration behavior (GO:0035640)4.81315650
16cerebellar granule cell differentiation (GO:0021707)4.77086131
17* regulation of neuronal synaptic plasticity (GO:0048168)4.70676754
18protein localization to synapse (GO:0035418)4.69322364
19* regulation of long-term neuronal synaptic plasticity (GO:0048169)4.50526681
20regulation of synaptic vesicle transport (GO:1902803)4.47064188
21neuronal action potential propagation (GO:0019227)4.45585003
22neurotransmitter secretion (GO:0007269)4.44075138
23synaptic transmission, glutamatergic (GO:0035249)4.44051697
24neurotransmitter-gated ion channel clustering (GO:0072578)4.37896172
25glutamate receptor signaling pathway (GO:0007215)4.34782727
26L-amino acid import (GO:0043092)4.32268162
27dendritic spine morphogenesis (GO:0060997)4.28051397
28long-term memory (GO:0007616)4.26402428
29potassium ion import (GO:0010107)4.23792264
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.23421384
31layer formation in cerebral cortex (GO:0021819)4.21481067
32potassium ion homeostasis (GO:0055075)4.17608312
33neuron-neuron synaptic transmission (GO:0007270)4.13490787
34membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.11127067
35regulation of voltage-gated calcium channel activity (GO:1901385)4.08063766
36positive regulation of membrane potential (GO:0045838)4.05414760
37regulation of excitatory postsynaptic membrane potential (GO:0060079)4.03611207
38cellular potassium ion homeostasis (GO:0030007)4.01379627
39neuron cell-cell adhesion (GO:0007158)3.98638719
40* positive regulation of synapse maturation (GO:0090129)3.94762285
41gamma-aminobutyric acid transport (GO:0015812)3.94229174
42axon ensheathment in central nervous system (GO:0032291)3.88622808
43central nervous system myelination (GO:0022010)3.88622808
44* regulation of synapse structural plasticity (GO:0051823)3.87518652
45* regulation of synaptic plasticity (GO:0048167)3.78010417
46regulation of postsynaptic membrane potential (GO:0060078)3.77488451
47amino acid import (GO:0043090)3.75442375
48sodium ion export (GO:0071436)3.74749835
49positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.72951566
50activation of protein kinase A activity (GO:0034199)3.67148616
51positive regulation of synaptic transmission, GABAergic (GO:0032230)3.62766628
52transmission of nerve impulse (GO:0019226)3.60705502
53cellular sodium ion homeostasis (GO:0006883)3.60523626
54auditory behavior (GO:0031223)3.60400712
55regulation of cell communication by electrical coupling (GO:0010649)3.59330723
56* neuromuscular process controlling balance (GO:0050885)3.58760811
57proline transport (GO:0015824)3.57845848
58neuromuscular synaptic transmission (GO:0007274)3.56767012
59prepulse inhibition (GO:0060134)3.55851092
60long-term synaptic potentiation (GO:0060291)3.53211190
61* regulation of dendritic spine morphogenesis (GO:0061001)3.52096349
62neurotransmitter transport (GO:0006836)3.50719854
63regulation of synaptic transmission, glutamatergic (GO:0051966)3.50489568
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.48461715
65synaptic vesicle endocytosis (GO:0048488)3.45668765
66behavioral defense response (GO:0002209)3.40921963
67behavioral fear response (GO:0001662)3.40921963
68G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.40363114
69regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.38067614
70regulation of neurotransmitter secretion (GO:0046928)3.37951547
71negative regulation of dendrite morphogenesis (GO:0050774)3.37349605
72dendritic spine organization (GO:0097061)3.36670915
73* positive regulation of dendritic spine development (GO:0060999)3.36006925
74cell communication by electrical coupling (GO:0010644)3.35429952
75regulation of vesicle fusion (GO:0031338)3.34773774
76positive regulation of neurotransmitter secretion (GO:0001956)3.34360931
77response to auditory stimulus (GO:0010996)3.33204545
78regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.32944598
79neuron recognition (GO:0008038)3.32422779
80detection of calcium ion (GO:0005513)3.31798465
81regulation of neurotransmitter levels (GO:0001505)3.31355914
82positive regulation of neurotransmitter transport (GO:0051590)3.31193122
83cell differentiation in hindbrain (GO:0021533)3.28164362
84neuromuscular process controlling posture (GO:0050884)3.27916249
85dendrite morphogenesis (GO:0048813)3.27883199
86neurotransmitter uptake (GO:0001504)3.25275041
87neuronal ion channel clustering (GO:0045161)3.24274042
88membrane depolarization (GO:0051899)3.23711581
89positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.22763772
90gamma-aminobutyric acid signaling pathway (GO:0007214)3.22159422
91cerebellar Purkinje cell differentiation (GO:0021702)3.21734974
92glycine transport (GO:0015816)3.20325463
93membrane depolarization during action potential (GO:0086010)3.19969748
94cell communication involved in cardiac conduction (GO:0086065)3.19440124
95learning (GO:0007612)3.17996793
96G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.17752457
97regulation of neurotransmitter transport (GO:0051588)3.17466695
98fear response (GO:0042596)3.16481142
99regulation of ARF protein signal transduction (GO:0032012)3.16366692
100regulation of female receptivity (GO:0045924)3.16034645
101acidic amino acid transport (GO:0015800)3.15056520
102innervation (GO:0060384)3.14728478
103chemosensory behavior (GO:0007635)3.14330708
104vesicle transport along microtubule (GO:0047496)3.14327153
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.12221090
106postsynaptic membrane organization (GO:0001941)3.12128820
107membrane hyperpolarization (GO:0060081)3.09015208
108positive regulation of synaptic transmission (GO:0050806)3.08376319
109* regulation of synapse maturation (GO:0090128)3.08036192
110serotonin metabolic process (GO:0042428)3.05894460
111axonal fasciculation (GO:0007413)3.05489390
112* regulation of synaptic transmission (GO:0050804)3.03044442
113long term synaptic depression (GO:0060292)3.01191572
114negative regulation of synaptic transmission, GABAergic (GO:0032229)2.98744194
115positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.98653378
116response to histamine (GO:0034776)2.98633642
117establishment of synaptic vesicle localization (GO:0097480)2.96739153
118synaptic vesicle transport (GO:0048489)2.96739153
119vesicle docking involved in exocytosis (GO:0006904)2.95237034
120regulation of sodium ion transmembrane transporter activity (GO:2000649)2.95002539
121intraspecies interaction between organisms (GO:0051703)2.93809988
122social behavior (GO:0035176)2.93809988
123* neuromuscular process (GO:0050905)2.93683677
124* synaptic transmission (GO:0007268)2.93521691
125dopamine receptor signaling pathway (GO:0007212)2.93519161
126* regulation of dendritic spine development (GO:0060998)2.91647324
127visual learning (GO:0008542)2.91483160

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.06557843
2GBX2_23144817_ChIP-Seq_PC3_Human3.20629585
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11176477
4* RARB_27405468_Chip-Seq_BRAIN_Mouse3.07114511
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04177708
6* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02895833
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.86856292
8DROSHA_22980978_ChIP-Seq_HELA_Human2.80730726
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.75571545
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.75571545
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68000881
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59748919
13* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58859782
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57930485
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47465072
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.45173666
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42739985
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.37701915
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.37148191
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.36391283
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31682627
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.30818681
23* RNF2_27304074_Chip-Seq_ESCs_Mouse2.20336373
24* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.19407814
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.15962839
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09106968
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.06609642
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.03470453
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86161185
30AR_21572438_ChIP-Seq_LNCaP_Human1.80172496
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.69228914
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.64992813
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59623487
34SMAD4_21799915_ChIP-Seq_A2780_Human1.50671427
35* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.45482400
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.43230827
37RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.42880187
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.39324350
39* RING1B_27294783_Chip-Seq_ESCs_Mouse1.33926843
40ZNF274_21170338_ChIP-Seq_K562_Hela1.33350788
41KDM2B_26808549_Chip-Seq_K562_Human1.29309274
42NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27507943
43* SOX2_21211035_ChIP-Seq_LN229_Gbm1.26987622
44* AR_19668381_ChIP-Seq_PC3_Human1.24804697
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24377664
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24372947
47* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24351354
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22616955
49WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.22273512
50* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.21957189
51* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19747254
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18811702
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.15594108
54* STAT3_23295773_ChIP-Seq_U87_Human1.15170244
55GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14264961
56* RING1B_27294783_Chip-Seq_NPCs_Mouse1.13933122
57* AR_25329375_ChIP-Seq_VCAP_Human1.12409705
58P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09436410
59P300_19829295_ChIP-Seq_ESCs_Human1.08725627
60TAF15_26573619_Chip-Seq_HEK293_Human1.08650331
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08499179
62CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.07787911
63RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07403432
64SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07121575
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06934941
66ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.05095023
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.04309718
68PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03493791
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03478179
70* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01639066
71VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.01227467
72ZFP57_27257070_Chip-Seq_ESCs_Mouse1.01022609
73GATA1_26923725_Chip-Seq_HPCs_Mouse1.00732762
74PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00134198
75TCF4_23295773_ChIP-Seq_U87_Human0.99934832
76GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98347669
77OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98187615
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97613021
79ARNT_22903824_ChIP-Seq_MCF-7_Human0.97505708
80SMAD3_21741376_ChIP-Seq_HESCs_Human0.97479779
81* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97381745
82OCT4_19829295_ChIP-Seq_ESCs_Human0.97280698
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96779713
84SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95937314
85CTCF_27219007_Chip-Seq_Bcells_Human0.95641195
86CBX2_27304074_Chip-Seq_ESCs_Mouse0.95507250
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.94580007
88SMAD3_21741376_ChIP-Seq_ESCs_Human0.93883435
89AHR_22903824_ChIP-Seq_MCF-7_Human0.93285874
90TET1_21490601_ChIP-Seq_MESCs_Mouse0.93064632
91* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92113472
92* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92066563
93PIAS1_25552417_ChIP-Seq_VCAP_Human0.91017076
94ESR2_21235772_ChIP-Seq_MCF-7_Human0.89930122
95SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89568530
96TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89360276
97TP53_20018659_ChIP-ChIP_R1E_Mouse0.88791218
98NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88754810
99DPY_21335234_ChIP-Seq_ESCs_Mouse0.87237631
100RXR_22108803_ChIP-Seq_LS180_Human0.87047631
101PRDM14_20953172_ChIP-Seq_ESCs_Human0.86713857
102CDX2_19796622_ChIP-Seq_MESCs_Mouse0.85436275
103RUNX2_22187159_ChIP-Seq_PCA_Human0.85378772
104AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85177774
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.85113958
106SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.84030044
107DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.83803335
108TP53_16413492_ChIP-PET_HCT116_Human0.83793831
109KLF4_19829295_ChIP-Seq_ESCs_Human0.81187592
110RNF2_27304074_Chip-Seq_NSC_Mouse0.80919466
111BMI1_23680149_ChIP-Seq_NPCS_Mouse0.80755187
112TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79922492
113SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79243074
114* LXR_22292898_ChIP-Seq_THP-1_Human0.78462402
115SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78303959
116RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77762637
117KDM2B_26808549_Chip-Seq_SUP-B15_Human0.77720886
118BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.77154587
119* SMC4_20622854_ChIP-Seq_HELA_Human0.75677526
120EP300_21415370_ChIP-Seq_HL-1_Mouse0.74358440
121RUNX1_26923725_Chip-Seq_HPCs_Mouse0.73797386
122SMAD4_21741376_ChIP-Seq_ESCs_Human0.71846698
123LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71511626
124TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71393622

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity7.14029292
2MP0003880_abnormal_central_pattern4.62129524
3* MP0003635_abnormal_synaptic_transmissio4.39160100
4MP0002822_catalepsy3.94405291
5MP0004270_analgesia3.80227264
6MP0009745_abnormal_behavioral_response3.58796834
7MP0002063_abnormal_learning/memory/cond3.56505671
8MP0002064_seizures3.21315971
9MP0009046_muscle_twitch2.99499405
10MP0002572_abnormal_emotion/affect_behav2.87149582
11MP0001968_abnormal_touch/_nociception2.75289718
12MP0005423_abnormal_somatic_nervous2.72661508
13MP0002272_abnormal_nervous_system2.59414672
14MP0001486_abnormal_startle_reflex2.56344360
15MP0002734_abnormal_mechanical_nocicepti2.51879456
16MP0001501_abnormal_sleep_pattern2.24673616
17MP0009780_abnormal_chondrocyte_physiolo2.23130359
18MP0002909_abnormal_adrenal_gland2.13254492
19MP0001440_abnormal_grooming_behavior2.05826188
20MP0002735_abnormal_chemical_nociception2.05640127
21MP0002736_abnormal_nociception_after2.02452056
22MP0008569_lethality_at_weaning1.99939653
23MP0002733_abnormal_thermal_nociception1.91709353
24MP0001970_abnormal_pain_threshold1.87851579
25MP0003329_amyloid_beta_deposits1.86444742
26MP0004811_abnormal_neuron_physiology1.85171469
27MP0002067_abnormal_sensory_capabilities1.83166210
28MP0002557_abnormal_social/conspecific_i1.76497965
29MP0004924_abnormal_behavior1.73990569
30MP0005386_behavior/neurological_phenoty1.73990569
31MP0002184_abnormal_innervation1.71825612
32MP0005646_abnormal_pituitary_gland1.70340107
33MP0004858_abnormal_nervous_system1.70139705
34MP0003879_abnormal_hair_cell1.65142425
35MP0000778_abnormal_nervous_system1.63467791
36MP0004885_abnormal_endolymph1.58633964
37MP0000955_abnormal_spinal_cord1.55050989
38MP0001984_abnormal_olfaction1.45742796
39MP0003787_abnormal_imprinting1.43042851
40* MP0002066_abnormal_motor_capabilities/c1.41210143
41MP0003633_abnormal_nervous_system1.40157992
42MP0002882_abnormal_neuron_morphology1.37873417
43MP0003123_paternal_imprinting1.24522447
44MP0001502_abnormal_circadian_rhythm1.23530738
45MP0001529_abnormal_vocalization1.23036709
46MP0005645_abnormal_hypothalamus_physiol1.19615011
47MP0003075_altered_response_to1.18800241
48MP0003631_nervous_system_phenotype1.14947525
49MP0003283_abnormal_digestive_organ1.14620574
50MP0006276_abnormal_autonomic_nervous1.14172080
51MP0004145_abnormal_muscle_electrophysio1.10836756
52MP0002152_abnormal_brain_morphology1.08410166
53MP0004142_abnormal_muscle_tone1.08081104
54MP0001905_abnormal_dopamine_level1.05966568
55MP0000013_abnormal_adipose_tissue1.04576048
56MP0008961_abnormal_basal_metabolism1.03870150
57MP0008872_abnormal_physiological_respon1.02451028
58MP0002069_abnormal_eating/drinking_beha0.99732894
59MP0000751_myopathy0.99190402
60MP0008874_decreased_physiological_sensi0.98933375
61MP0001177_atelectasis0.98174906
62MP0000569_abnormal_digit_pigmentation0.94379827
63MP0001188_hyperpigmentation0.93476772
64MP0001348_abnormal_lacrimal_gland0.93398712
65MP0002229_neurodegeneration0.92296869
66MP0003122_maternal_imprinting0.90961648
67MP0004147_increased_porphyrin_level0.89966907
68MP0005535_abnormal_body_temperature0.88329306
69MP0004085_abnormal_heartbeat0.87958584
70MP0003690_abnormal_glial_cell0.85406714
71MP0005551_abnormal_eye_electrophysiolog0.82742746
72MP0010386_abnormal_urinary_bladder0.82722910
73MP0000604_amyloidosis0.81951285
74MP0008877_abnormal_DNA_methylation0.81781396
75MP0003634_abnormal_glial_cell0.79723654
76MP0003632_abnormal_nervous_system0.78907409
77MP0002090_abnormal_vision0.78171080
78MP0004036_abnormal_muscle_relaxation0.77702937
79MP0004043_abnormal_pH_regulation0.76536610
80MP0005167_abnormal_blood-brain_barrier0.76527725
81MP0010234_abnormal_vibrissa_follicle0.74657047
82MP0000749_muscle_degeneration0.74320192
83MP0005499_abnormal_olfactory_system0.73821316
84MP0005394_taste/olfaction_phenotype0.73821316
85MP0004510_myositis0.73103196
86MP0000920_abnormal_myelination0.72791735
87MP0000747_muscle_weakness0.71764711
88MP0001346_abnormal_lacrimal_gland0.71070982
89MP0000631_abnormal_neuroendocrine_gland0.70663218
90MP0001986_abnormal_taste_sensitivity0.69890901
91MP0003646_muscle_fatigue0.69766357
92MP0005409_darkened_coat_color0.69262501
93MP0004233_abnormal_muscle_weight0.68932444
94MP0004215_abnormal_myocardial_fiber0.68156858
95MP0003137_abnormal_impulse_conducting0.67930057
96MP0001963_abnormal_hearing_physiology0.67394136
97MP0004742_abnormal_vestibular_system0.66645118
98MP0003172_abnormal_lysosome_physiology0.64930692
99MP0002234_abnormal_pharynx_morphology0.63360326
100MP0002752_abnormal_somatic_nervous0.62238004
101MP0002837_dystrophic_cardiac_calcinosis0.60939609
102MP0001664_abnormal_digestion0.59359863
103MP0004484_altered_response_of0.58826840
104MP0005620_abnormal_muscle_contractility0.55733291
105MP0001485_abnormal_pinna_reflex0.55339462
106MP0002638_abnormal_pupillary_reflex0.53008456
107MP0003045_fibrosis0.51630818
108MP0010769_abnormal_survival0.51357985
109MP0000026_abnormal_inner_ear0.51251577
110MP0003956_abnormal_body_size0.51220113
111MP0003861_abnormal_nervous_system0.50269885
112MP0010768_mortality/aging0.49536907
113MP0004130_abnormal_muscle_cell0.48724858
114MP0001943_abnormal_respiration0.48575012
115MP0002106_abnormal_muscle_physiology0.47281893

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.75065647
2Myokymia (HP:0002411)7.72970659
3Focal seizures (HP:0007359)5.80862153
4Visual hallucinations (HP:0002367)5.56153801
5Epileptic encephalopathy (HP:0200134)4.59975419
6Action tremor (HP:0002345)4.32397733
7Progressive cerebellar ataxia (HP:0002073)4.29519814
8Febrile seizures (HP:0002373)4.13623090
9Atonic seizures (HP:0010819)4.08404157
10Absence seizures (HP:0002121)3.97808872
11Generalized tonic-clonic seizures (HP:0002069)3.84195570
12Poor eye contact (HP:0000817)3.74915436
13Supranuclear gaze palsy (HP:0000605)3.68430560
14Dialeptic seizures (HP:0011146)3.68230336
15Broad-based gait (HP:0002136)3.62291079
16Depression (HP:0000716)3.53785028
17Ankle clonus (HP:0011448)3.52601617
18Impaired vibration sensation in the lower limbs (HP:0002166)3.48638833
19Gaze-evoked nystagmus (HP:0000640)3.42738553
20Abnormality of the lower motor neuron (HP:0002366)3.41894728
21Impaired social interactions (HP:0000735)3.37248159
22Abnormal social behavior (HP:0012433)3.37248159
23Dysdiadochokinesis (HP:0002075)3.35719025
24Cerebral hypomyelination (HP:0006808)3.34849363
25Anxiety (HP:0000739)3.30965972
26Dysmetria (HP:0001310)3.21473842
27Mutism (HP:0002300)3.20473430
28Papilledema (HP:0001085)3.18817635
29Postural instability (HP:0002172)3.12991092
30Urinary bladder sphincter dysfunction (HP:0002839)3.06051831
31Torticollis (HP:0000473)3.05064630
32Truncal ataxia (HP:0002078)2.97210301
33Akinesia (HP:0002304)2.95463224
34Impaired smooth pursuit (HP:0007772)2.94829060
35Abnormal eating behavior (HP:0100738)2.88965505
36Genetic anticipation (HP:0003743)2.88111776
37Focal dystonia (HP:0004373)2.84891354
38Annular pancreas (HP:0001734)2.79870432
39Hyperventilation (HP:0002883)2.79221741
40Amblyopia (HP:0000646)2.77149826
41Intention tremor (HP:0002080)2.75111637
42Hemiparesis (HP:0001269)2.73199083
43Stereotypic behavior (HP:0000733)2.72740683
44Scanning speech (HP:0002168)2.71262421
45Hemiplegia (HP:0002301)2.67544552
46Urinary urgency (HP:0000012)2.67046729
47Excessive salivation (HP:0003781)2.63209353
48Drooling (HP:0002307)2.63209353
49Ventricular fibrillation (HP:0001663)2.59912494
50Dysmetric saccades (HP:0000641)2.58470641
51Abnormality of ocular smooth pursuit (HP:0000617)2.57658693
52Bradykinesia (HP:0002067)2.57400023
53Spastic gait (HP:0002064)2.57178108
54Epileptiform EEG discharges (HP:0011182)2.53760046
55Craniofacial dystonia (HP:0012179)2.52717717
56Neurofibrillary tangles (HP:0002185)2.52541741
57Cerebral inclusion bodies (HP:0100314)2.52254833
58Sleep apnea (HP:0010535)2.51104456
59Megalencephaly (HP:0001355)2.50801933
60Abnormality of binocular vision (HP:0011514)2.49947418
61Diplopia (HP:0000651)2.49947418
62Sudden death (HP:0001699)2.46157260
63EEG with generalized epileptiform discharges (HP:0011198)2.44590756
64Pointed chin (HP:0000307)2.41963178
65Heart block (HP:0012722)2.38912123
66Impaired vibratory sensation (HP:0002495)2.34233237
67Hypsarrhythmia (HP:0002521)2.33974532
68Progressive inability to walk (HP:0002505)2.30863333
69Status epilepticus (HP:0002133)2.27625914
70Bundle branch block (HP:0011710)2.26727252
71Syncope (HP:0001279)2.24302794
72Obstructive sleep apnea (HP:0002870)2.24078706
73Hyporeflexia of lower limbs (HP:0002600)2.19392674
74Resting tremor (HP:0002322)2.18583811
75Insomnia (HP:0100785)2.18192120
76Amyotrophic lateral sclerosis (HP:0007354)2.15710135
77Choreoathetosis (HP:0001266)2.12883712
78Abnormal atrioventricular conduction (HP:0005150)2.12730668
79Fetal akinesia sequence (HP:0001989)2.11987868
80Lower limb muscle weakness (HP:0007340)2.10481431
81Ankyloglossia (HP:0010296)2.09918272
82Abnormal EKG (HP:0003115)2.09212562
83Spastic tetraparesis (HP:0001285)2.07002627
84Myotonia (HP:0002486)2.06817470
85Absent speech (HP:0001344)2.06407688
86Generalized myoclonic seizures (HP:0002123)2.03827857
87Clonus (HP:0002169)2.03563149
88Incomplete penetrance (HP:0003829)2.02580523
89Agitation (HP:0000713)2.02487089
90CNS hypomyelination (HP:0003429)2.01262453
91Limb dystonia (HP:0002451)1.99892288
92Spinal canal stenosis (HP:0003416)1.99582983
93Gait ataxia (HP:0002066)1.99147028
94Abnormality of the corticospinal tract (HP:0002492)1.98196333
95Exercise-induced myalgia (HP:0003738)1.98058305
96Morphological abnormality of the pyramidal tract (HP:0002062)1.97595941
97Termporal pattern (HP:0011008)1.96184441
98Insidious onset (HP:0003587)1.96184441
99Muscle fiber inclusion bodies (HP:0100299)1.94564055
100Lower limb amyotrophy (HP:0007210)1.94544913
101Polyphagia (HP:0002591)1.94004006
102Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.93891458
103Peripheral hypomyelination (HP:0007182)1.92072614
104Lower limb asymmetry (HP:0100559)1.91271805
105Neuronal loss in central nervous system (HP:0002529)1.90984678
106Rigidity (HP:0002063)1.87816051
107Aplasia involving bones of the upper limbs (HP:0009823)1.87615912
108Aplasia of the phalanges of the hand (HP:0009802)1.87615912
109Aplasia involving bones of the extremities (HP:0009825)1.87615912
110Abnormality of saccadic eye movements (HP:0000570)1.86376607
111Exercise-induced muscle cramps (HP:0003710)1.85865312
112Degeneration of the lateral corticospinal tracts (HP:0002314)1.84736213
113Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.84736213
114Unsteady gait (HP:0002317)1.84177080
115Apathy (HP:0000741)1.82909567
116Rapidly progressive (HP:0003678)1.81916860
117Pheochromocytoma (HP:0002666)1.81665243
118Inappropriate behavior (HP:0000719)1.80938089
119Prolonged QT interval (HP:0001657)1.80619057
120Inability to walk (HP:0002540)1.79412102
121Blue irides (HP:0000635)1.75171016
122Tetraplegia (HP:0002445)1.75104841
123Psychosis (HP:0000709)1.74553116
124Delusions (HP:0000746)1.73670374
125Abnormality of the periventricular white matter (HP:0002518)1.73369240

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.28402476
2NTRK34.80009912
3MAP3K94.00293249
4MARK13.02622794
5MINK12.65105751
6DAPK22.64656850
7MAP3K42.60274999
8PRKD32.56988395
9KSR22.49926157
10PAK62.33713304
11CAMKK12.15743241
12MAP2K72.01808061
13NTRK21.99179884
14RIPK41.85237285
15KSR11.77364835
16NTRK11.76066762
17MAP2K41.64792107
18CDK51.61557281
19DAPK11.59635386
20ARAF1.52606748
21MAP3K131.50966363
22TNIK1.50621952
23PRPF4B1.45811587
24STK381.45360747
25FES1.44526447
26MAP3K21.38985093
27MAP3K121.31136895
28SIK21.29674953
29CAMKK21.23250444
30PRKCG1.21061731
31TAOK11.19766451
32TYRO31.18473157
33MAPK121.17076792
34MAPK131.14889027
35GRK51.14723933
36OBSCN1.13949631
37PLK21.10682458
38UHMK11.06527379
39CAMK11.04725736
40PHKG11.02809196
41PHKG21.02809196
42RAF11.00360830
43PRKCH0.96860052
44CDK190.96232314
45CAMK2A0.91467684
46CDK180.91423302
47CDK150.91214012
48PINK10.91201901
49STK110.90399456
50PKN10.89925738
51PNCK0.88069010
52CDK140.86066848
53SGK2230.85512908
54SGK4940.85512908
55ALK0.85437451
56CASK0.84481704
57MARK20.83502414
58PTK2B0.83502110
59CDK11A0.79614396
60RET0.79388600
61LATS20.76028737
62PDK10.74765429
63MAP3K10.74548976
64LIMK10.74543901
65SGK10.73956607
66PAK30.72968328
67SGK20.72929888
68SGK30.71016388
69DYRK1A0.69340998
70PDPK10.68853347
71MAP3K110.68743182
72RIPK10.68719592
73BMPR20.67005421
74LMTK20.62324558
75MAP3K70.59060402
76NEK10.58990245
77RPS6KA30.54164741
78CDC42BPA0.53469735
79PRKCZ0.52289251
80NME10.52083322
81MAP2K60.52015615
82NEK60.51399634
83FGFR20.50578851
84CCNB10.50530490
85CSNK1G20.49909069
86TNK20.49644190
87CAMK40.49635515
88FYN0.48963559
89* CAMK2B0.48493817
90SCYL20.46348258
91DMPK0.45817339
92BRSK10.44907711
93FER0.44859232
94MAPK100.44653515
95MAP2K10.44425331
96CAMK2D0.44354139
97CAMK2G0.42106988
98PRKCE0.41063735
99PRKCA0.40829964
100ROCK10.40093154
101OXSR10.38725185
102PRKACA0.38446889
103ROCK20.37909232
104WNK10.36234779
105CAMK1G0.36049492
106PRKG10.35947917
107DAPK30.35306527
108PRKG20.35132813
109PRKD20.33037930
110PRKCB0.31714459
111RPS6KA20.31359680
112ERBB20.30677136
113MAPK40.30436530
114MAPK80.30392558
115BRAF0.29757899
116WNK30.29548240
117FGR0.29331074
118PRKAA10.29056536
119MAPKAPK50.27237409

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.53578459
2Synaptic vesicle cycle_Homo sapiens_hsa047213.12610961
3* Circadian entrainment_Homo sapiens_hsa047132.77621907
4GABAergic synapse_Homo sapiens_hsa047272.73307921
5* Long-term potentiation_Homo sapiens_hsa047202.72364367
6* Olfactory transduction_Homo sapiens_hsa047402.72305225
7Glutamatergic synapse_Homo sapiens_hsa047242.67541221
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63988634
9Morphine addiction_Homo sapiens_hsa050322.56116067
10* Amphetamine addiction_Homo sapiens_hsa050312.48652424
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30779107
12Salivary secretion_Homo sapiens_hsa049702.22978702
13* Dopaminergic synapse_Homo sapiens_hsa047282.16787662
14* Insulin secretion_Homo sapiens_hsa049112.06528440
15* Cholinergic synapse_Homo sapiens_hsa047251.96658648
16* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91186367
17* Gastric acid secretion_Homo sapiens_hsa049711.83151174
18Cocaine addiction_Homo sapiens_hsa050301.81737355
19Long-term depression_Homo sapiens_hsa047301.72911468
20Renin secretion_Homo sapiens_hsa049241.71626949
21* Oxytocin signaling pathway_Homo sapiens_hsa049211.70677147
22* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68947094
23Taste transduction_Homo sapiens_hsa047421.66667612
24* Calcium signaling pathway_Homo sapiens_hsa040201.61450099
25Serotonergic synapse_Homo sapiens_hsa047261.55892861
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50255609
27* GnRH signaling pathway_Homo sapiens_hsa049121.43761771
28Gap junction_Homo sapiens_hsa045401.40435256
29Type II diabetes mellitus_Homo sapiens_hsa049301.38655290
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.37184244
31Vitamin B6 metabolism_Homo sapiens_hsa007501.36877735
32* cAMP signaling pathway_Homo sapiens_hsa040241.32396733
33Nitrogen metabolism_Homo sapiens_hsa009101.29308859
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.23857418
35Estrogen signaling pathway_Homo sapiens_hsa049151.21472639
36* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20700318
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18876623
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.12263774
39* Glioma_Homo sapiens_hsa052141.06444593
40Collecting duct acid secretion_Homo sapiens_hsa049661.04069904
41Axon guidance_Homo sapiens_hsa043601.02001345
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.99820860
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97680292
44Pancreatic secretion_Homo sapiens_hsa049720.96827255
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96652647
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.93626488
47* Melanogenesis_Homo sapiens_hsa049160.93374497
48* ErbB signaling pathway_Homo sapiens_hsa040120.90924500
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89354081
50Thyroid hormone synthesis_Homo sapiens_hsa049180.85907164
51Dorso-ventral axis formation_Homo sapiens_hsa043200.84664462
52Cardiac muscle contraction_Homo sapiens_hsa042600.82896372
53* Oocyte meiosis_Homo sapiens_hsa041140.80220996
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79462905
55Choline metabolism in cancer_Homo sapiens_hsa052310.78968188
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.78856496
57Dilated cardiomyopathy_Homo sapiens_hsa054140.76854045
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73025805
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.73024320
60Alzheimers disease_Homo sapiens_hsa050100.72857265
61VEGF signaling pathway_Homo sapiens_hsa043700.72379578
62Vibrio cholerae infection_Homo sapiens_hsa051100.71704480
63MAPK signaling pathway_Homo sapiens_hsa040100.70390089
64Phototransduction_Homo sapiens_hsa047440.66720860
65Arginine and proline metabolism_Homo sapiens_hsa003300.66101804
66mTOR signaling pathway_Homo sapiens_hsa041500.63708591
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62335305
68* Neurotrophin signaling pathway_Homo sapiens_hsa047220.60990847
69Type I diabetes mellitus_Homo sapiens_hsa049400.60053536
70Rap1 signaling pathway_Homo sapiens_hsa040150.59583375
71Bile secretion_Homo sapiens_hsa049760.59020488
72Non-small cell lung cancer_Homo sapiens_hsa052230.56480204
73Alcoholism_Homo sapiens_hsa050340.56279402
74Ras signaling pathway_Homo sapiens_hsa040140.55987343
75* Glucagon signaling pathway_Homo sapiens_hsa049220.55490464
76Inositol phosphate metabolism_Homo sapiens_hsa005620.53805914
77Circadian rhythm_Homo sapiens_hsa047100.53597083
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.52861878
79Arginine biosynthesis_Homo sapiens_hsa002200.52748751
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52318981
81Endocytosis_Homo sapiens_hsa041440.52308268
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.51967716
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.50118853
84Endometrial cancer_Homo sapiens_hsa052130.49426042
85Prion diseases_Homo sapiens_hsa050200.48656858
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46733272
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46217125
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45325547
89Histidine metabolism_Homo sapiens_hsa003400.45099583
90Insulin signaling pathway_Homo sapiens_hsa049100.43728703
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42014158
92Mineral absorption_Homo sapiens_hsa049780.40358301
93Chemokine signaling pathway_Homo sapiens_hsa040620.40216487
94Renal cell carcinoma_Homo sapiens_hsa052110.40090431
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38777054
962-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37642233
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.36716449
98Oxidative phosphorylation_Homo sapiens_hsa001900.36426166
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34971411
100Ovarian steroidogenesis_Homo sapiens_hsa049130.34259317
101African trypanosomiasis_Homo sapiens_hsa051430.33300892
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32427089
103Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30797063
104Parkinsons disease_Homo sapiens_hsa050120.29684520
105* Wnt signaling pathway_Homo sapiens_hsa043100.29551059
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.28978350
107Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28252737
108AMPK signaling pathway_Homo sapiens_hsa041520.27507521
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27087649
110Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26399990
111beta-Alanine metabolism_Homo sapiens_hsa004100.25727942
112Fatty acid biosynthesis_Homo sapiens_hsa000610.25613336
113Platelet activation_Homo sapiens_hsa046110.25404729
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23366573

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