CAMK2A

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 kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.16010446
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.89325360
3locomotory exploration behavior (GO:0035641)6.84199966
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.62448277
5synaptic vesicle docking involved in exocytosis (GO:0016081)6.07932790
6glutamate secretion (GO:0014047)5.93269773
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.80660169
8vocalization behavior (GO:0071625)5.80134597
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.75821614
10synaptic vesicle exocytosis (GO:0016079)5.72844123
11regulation of glutamate receptor signaling pathway (GO:1900449)5.63515487
12* regulation of neuronal synaptic plasticity (GO:0048168)5.26130269
13regulation of synaptic vesicle exocytosis (GO:2000300)5.21513853
14regulation of long-term neuronal synaptic plasticity (GO:0048169)5.16387914
15exploration behavior (GO:0035640)5.08033959
16ionotropic glutamate receptor signaling pathway (GO:0035235)5.02116238
17regulation of synapse structural plasticity (GO:0051823)4.93378870
18protein localization to synapse (GO:0035418)4.91794119
19dendritic spine morphogenesis (GO:0060997)4.79447188
20regulation of synaptic vesicle transport (GO:1902803)4.77032002
21neuronal action potential propagation (GO:0019227)4.75483679
22cerebellar granule cell differentiation (GO:0021707)4.69461132
23synaptic transmission, glutamatergic (GO:0035249)4.51381876
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.50469945
25neurotransmitter secretion (GO:0007269)4.49813691
26long-term memory (GO:0007616)4.47959757
27neurotransmitter-gated ion channel clustering (GO:0072578)4.42382659
28positive regulation of membrane potential (GO:0045838)4.39603861
29regulation of dendritic spine morphogenesis (GO:0061001)4.27265461
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.26358910
31potassium ion homeostasis (GO:0055075)4.23186890
32glutamate receptor signaling pathway (GO:0007215)4.21397859
33regulation of voltage-gated calcium channel activity (GO:1901385)4.20894473
34negative regulation of dendrite morphogenesis (GO:0050774)4.19453434
35potassium ion import (GO:0010107)4.14706367
36* regulation of synaptic plasticity (GO:0048167)4.14222279
37layer formation in cerebral cortex (GO:0021819)4.12881281
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.11391136
39cellular potassium ion homeostasis (GO:0030007)4.02856896
40G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)4.01237651
41proline transport (GO:0015824)4.00754349
42neuron-neuron synaptic transmission (GO:0007270)3.95436232
43regulation of postsynaptic membrane potential (GO:0060078)3.94765465
44sodium ion export (GO:0071436)3.92163983
45axon ensheathment in central nervous system (GO:0032291)3.87363375
46central nervous system myelination (GO:0022010)3.87363375
47L-amino acid import (GO:0043092)3.85981713
48neuromuscular process controlling balance (GO:0050885)3.85552147
49dendritic spine organization (GO:0097061)3.85492186
50positive regulation of synapse maturation (GO:0090129)3.74572881
51regulation of synapse maturation (GO:0090128)3.74026738
52neuron cell-cell adhesion (GO:0007158)3.72534163
53postsynaptic membrane organization (GO:0001941)3.72136766
54positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.70155081
55long-term synaptic potentiation (GO:0060291)3.66531505
56activation of protein kinase A activity (GO:0034199)3.65398075
57chemosensory behavior (GO:0007635)3.60429026
58regulation of ARF protein signal transduction (GO:0032012)3.57214689
59cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.54992207
60gamma-aminobutyric acid transport (GO:0015812)3.54465452
61positive regulation of neurotransmitter secretion (GO:0001956)3.53913423
62neurotransmitter transport (GO:0006836)3.52520701
63regulation of dendritic spine development (GO:0060998)3.52474069
64synaptic vesicle endocytosis (GO:0048488)3.52166623
65positive regulation of dendritic spine development (GO:0060999)3.50593907
66neurotransmitter uptake (GO:0001504)3.44158066
67acidic amino acid transport (GO:0015800)3.43597447
68cell communication by electrical coupling (GO:0010644)3.42116736
69positive regulation of synaptic transmission, GABAergic (GO:0032230)3.40828571
70positive regulation of neurotransmitter transport (GO:0051590)3.39185087
71regulation of vesicle fusion (GO:0031338)3.38455266
72regulation of synaptic transmission, glutamatergic (GO:0051966)3.37155167
73positive regulation of dendritic spine morphogenesis (GO:0061003)3.36725807
74neuromuscular synaptic transmission (GO:0007274)3.36342052
75vesicle docking involved in exocytosis (GO:0006904)3.33992128
76regulation of neurotransmitter levels (GO:0001505)3.32536178
77transmission of nerve impulse (GO:0019226)3.32313355
78neuronal ion channel clustering (GO:0045161)3.31634039
79membrane depolarization (GO:0051899)3.30566994
80* regulation of neurotransmitter secretion (GO:0046928)3.29151369
81neuromuscular process controlling posture (GO:0050884)3.28876028
82auditory behavior (GO:0031223)3.26546502
83cytoskeletal anchoring at plasma membrane (GO:0007016)3.25475299
84innervation (GO:0060384)3.22186246
85positive regulation of synaptic transmission (GO:0050806)3.20701801
86* regulation of synaptic transmission (GO:0050804)3.18190137
87serotonin metabolic process (GO:0042428)3.17616855
88detection of calcium ion (GO:0005513)3.17404567
89learning (GO:0007612)3.16208583
90cell communication involved in cardiac conduction (GO:0086065)3.15350097
91behavioral defense response (GO:0002209)3.15329522
92behavioral fear response (GO:0001662)3.15329522
93glycine transport (GO:0015816)3.13662761
94response to auditory stimulus (GO:0010996)3.13544978
95regulation of cell communication by electrical coupling (GO:0010649)3.13421705
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.12589443
97positive regulation of fibroblast migration (GO:0010763)3.11979675
98establishment of synaptic vesicle localization (GO:0097480)3.11737675
99synaptic vesicle transport (GO:0048489)3.11737675
100regulation of exocytosis (GO:0017157)3.10747367
101membrane depolarization during action potential (GO:0086010)3.10673591
102neuron recognition (GO:0008038)3.10576122
103vesicle docking (GO:0048278)3.10287086
104regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09979790
105dendrite morphogenesis (GO:0048813)3.09326605
106neuromuscular process (GO:0050905)3.06143244
107* regulation of neurotransmitter transport (GO:0051588)3.05558145
108cellular sodium ion homeostasis (GO:0006883)3.04974617
109regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.04066961
110signal complex assembly (GO:0007172)3.01511709
111vesicle transport along microtubule (GO:0047496)3.01045612
112intraspecies interaction between organisms (GO:0051703)3.00585856
113social behavior (GO:0035176)3.00585856
114prepulse inhibition (GO:0060134)3.00309620
115cerebellar Purkinje cell differentiation (GO:0021702)2.99539788
116regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.99454132
117membrane hyperpolarization (GO:0060081)2.97686717
118negative regulation of synaptic transmission, GABAergic (GO:0032229)2.95856530
119* synaptic transmission (GO:0007268)2.95745267
120long term synaptic depression (GO:0060292)2.95403988
121amino acid import (GO:0043090)2.94144024
122gamma-aminobutyric acid signaling pathway (GO:0007214)2.90670598
123axonal fasciculation (GO:0007413)2.89874362

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.44098440
2* RARB_27405468_Chip-Seq_BRAIN_Mouse3.18640772
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.16521858
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.16173855
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07186411
6DROSHA_22980978_ChIP-Seq_HELA_Human2.89785792
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.88869841
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.88869841
9GBX2_23144817_ChIP-Seq_PC3_Human2.84336715
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.83062729
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.78583872
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.66408845
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.64790853
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.62428572
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.54465786
16MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.51002201
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.44436457
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43531578
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39887615
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.35929432
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.33077723
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.31257955
23EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.28636123
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.19273620
25* IKZF1_21737484_ChIP-ChIP_HCT116_Human2.01782080
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.91218909
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.80144887
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.77851186
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.68729931
30AR_21572438_ChIP-Seq_LNCaP_Human1.67697858
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.54870871
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50335824
33RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.48301193
34RING1B_27294783_Chip-Seq_ESCs_Mouse1.43782893
35KDM2B_26808549_Chip-Seq_K562_Human1.41098131
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.39634352
37SMAD4_21799915_ChIP-Seq_A2780_Human1.38688372
38WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.34870592
39* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.34622371
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.33549859
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.31926317
42WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31797111
43GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31403653
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.29843581
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27646675
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24139798
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.21879151
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.21428178
49AR_19668381_ChIP-Seq_PC3_Human1.20171866
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19313900
51* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17320879
52ESR2_21235772_ChIP-Seq_MCF-7_Human1.16717133
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15995234
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.15248353
55* RING1B_27294783_Chip-Seq_NPCs_Mouse1.14206723
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10396401
57ZFP281_27345836_Chip-Seq_ESCs_Mouse1.10146931
58RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09140271
59CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.08951685
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.08272229
61AR_25329375_ChIP-Seq_VCAP_Human1.07933061
62ZNF274_21170338_ChIP-Seq_K562_Hela1.07828843
63P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07341146
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.07262225
65VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03234588
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03143021
67PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02954795
68KDM2B_26808549_Chip-Seq_SUP-B15_Human1.02668182
69SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02620342
70CTCF_27219007_Chip-Seq_Bcells_Human1.02442207
71SMAD3_21741376_ChIP-Seq_HESCs_Human1.01900594
72STAT3_23295773_ChIP-Seq_U87_Human1.01876852
73GATA1_26923725_Chip-Seq_HPCs_Mouse1.01443685
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97851270
75* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97693941
76RXR_22108803_ChIP-Seq_LS180_Human0.97609881
77DPY_21335234_ChIP-Seq_ESCs_Mouse0.96743855
78OCT4_19829295_ChIP-Seq_ESCs_Human0.96499238
79RNF2_27304074_Chip-Seq_NSC_Mouse0.95882892
80TET1_21490601_ChIP-Seq_MESCs_Mouse0.95350907
81YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95254514
82TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94702921
83P300_19829295_ChIP-Seq_ESCs_Human0.94674894
84CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93194393
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91623250
86* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90758567
87PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90207568
88SMAD4_21741376_ChIP-Seq_HESCs_Human0.89976609
89TCF4_23295773_ChIP-Seq_U87_Human0.89183800
90ARNT_22903824_ChIP-Seq_MCF-7_Human0.88926910
91TP53_16413492_ChIP-PET_HCT116_Human0.87598376
92NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87520272
93DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87190824
94TAF15_26573619_Chip-Seq_HEK293_Human0.86733553
95* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86548225
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85846859
97PRDM14_20953172_ChIP-Seq_ESCs_Human0.85343458
98AHR_22903824_ChIP-Seq_MCF-7_Human0.84476047
99KLF4_19829295_ChIP-Seq_ESCs_Human0.84466633
100* SMAD3_21741376_ChIP-Seq_ESCs_Human0.84383301
101SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.83728646
102EGR1_19032775_ChIP-ChIP_M12_Human0.83552197
103SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.82987839
104ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82586008
105* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.82544526
106* LXR_22292898_ChIP-Seq_THP-1_Human0.81719976
107PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81641067
108ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.81283940
109CBX2_27304074_Chip-Seq_ESCs_Mouse0.80375375
110TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79701590
111TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79524284
112* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79342040
113CDX2_19796622_ChIP-Seq_MESCs_Mouse0.78921617
114* SMC4_20622854_ChIP-Seq_HELA_Human0.78756847
115RUNX1_26923725_Chip-Seq_HPCs_Mouse0.77662599
116SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.77563340
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77051856
118SMAD4_21741376_ChIP-Seq_ESCs_Human0.75862015
119TP53_20018659_ChIP-ChIP_R1E_Mouse0.74894871
120BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.74110893
121SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.73663532
122* CREB1_26743006_Chip-Seq_LNCaP_Human0.73171555
123* MYC_19915707_ChIP-ChIP_AK7_Human0.73021331
124LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70454045
125TP53_23651856_ChIP-Seq_MEFs_Mouse0.66625795

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity8.24075366
2MP0003880_abnormal_central_pattern4.83331683
3* MP0003635_abnormal_synaptic_transmissio4.58527696
4MP0004270_analgesia4.09841429
5MP0009745_abnormal_behavioral_response3.69431402
6* MP0002063_abnormal_learning/memory/cond3.67267090
7MP0002822_catalepsy3.54728467
8* MP0002064_seizures3.31533001
9MP0001968_abnormal_touch/_nociception2.87726567
10* MP0002572_abnormal_emotion/affect_behav2.82220198
11MP0009046_muscle_twitch2.78690899
12MP0001486_abnormal_startle_reflex2.66302861
13MP0002272_abnormal_nervous_system2.62332887
14MP0005423_abnormal_somatic_nervous2.60599233
15MP0002734_abnormal_mechanical_nocicepti2.52422969
16MP0001501_abnormal_sleep_pattern2.32072694
17MP0009780_abnormal_chondrocyte_physiolo2.22496435
18MP0004858_abnormal_nervous_system2.11514358
19MP0002736_abnormal_nociception_after2.09311199
20MP0008569_lethality_at_weaning2.04984183
21MP0002735_abnormal_chemical_nociception2.04525040
22MP0001440_abnormal_grooming_behavior1.96518389
23MP0004811_abnormal_neuron_physiology1.93960888
24MP0003329_amyloid_beta_deposits1.85335942
25MP0001970_abnormal_pain_threshold1.84108183
26MP0003879_abnormal_hair_cell1.80402822
27MP0002733_abnormal_thermal_nociception1.77496577
28MP0002909_abnormal_adrenal_gland1.74346866
29MP0002067_abnormal_sensory_capabilities1.66694952
30MP0002557_abnormal_social/conspecific_i1.62011263
31MP0005646_abnormal_pituitary_gland1.60385007
32MP0003633_abnormal_nervous_system1.54025213
33MP0004885_abnormal_endolymph1.51286055
34MP0004924_abnormal_behavior1.49059163
35MP0005386_behavior/neurological_phenoty1.49059163
36MP0002184_abnormal_innervation1.48661993
37MP0000778_abnormal_nervous_system1.46900312
38MP0000955_abnormal_spinal_cord1.46036048
39MP0003787_abnormal_imprinting1.40334141
40* MP0002066_abnormal_motor_capabilities/c1.38092552
41MP0003123_paternal_imprinting1.37179020
42* MP0002882_abnormal_neuron_morphology1.33704300
43* MP0003075_altered_response_to1.28725906
44MP0003631_nervous_system_phenotype1.24551613
45MP0001984_abnormal_olfaction1.14870524
46MP0001905_abnormal_dopamine_level1.13435748
47MP0004147_increased_porphyrin_level1.12251811
48MP0008961_abnormal_basal_metabolism1.11685413
49MP0001177_atelectasis1.11181676
50MP0000751_myopathy1.10595156
51MP0001502_abnormal_circadian_rhythm1.09312923
52MP0008874_decreased_physiological_sensi1.09296510
53MP0008872_abnormal_physiological_respon1.09164164
54MP0004510_myositis1.08311590
55MP0005167_abnormal_blood-brain_barrier1.05272713
56MP0002152_abnormal_brain_morphology1.04008349
57MP0001346_abnormal_lacrimal_gland1.03200283
58MP0003690_abnormal_glial_cell1.02954396
59MP0010234_abnormal_vibrissa_follicle1.02121478
60MP0005645_abnormal_hypothalamus_physiol0.99076243
61MP0002069_abnormal_eating/drinking_beha0.98351103
62MP0003283_abnormal_digestive_organ0.95190808
63MP0000569_abnormal_digit_pigmentation0.91815929
64MP0005535_abnormal_body_temperature0.90676098
65MP0004142_abnormal_muscle_tone0.89939437
66MP0000920_abnormal_myelination0.87274347
67MP0000604_amyloidosis0.85508914
68MP0006276_abnormal_autonomic_nervous0.84051552
69MP0001348_abnormal_lacrimal_gland0.83780036
70MP0001529_abnormal_vocalization0.82963679
71MP0002638_abnormal_pupillary_reflex0.81428749
72MP0004085_abnormal_heartbeat0.80769552
73MP0002229_neurodegeneration0.79914530
74MP0002090_abnormal_vision0.79699507
75MP0001986_abnormal_taste_sensitivity0.77761911
76MP0003632_abnormal_nervous_system0.77154388
77MP0003634_abnormal_glial_cell0.73769103
78MP0003172_abnormal_lysosome_physiology0.72903573
79MP0004145_abnormal_muscle_electrophysio0.72272358
80MP0005166_decreased_susceptibility_to0.71488238
81MP0004484_altered_response_of0.71047292
82MP0010386_abnormal_urinary_bladder0.71037526
83MP0003122_maternal_imprinting0.70009643
84MP0001963_abnormal_hearing_physiology0.69906232
85MP0008877_abnormal_DNA_methylation0.65555933
86MP0004130_abnormal_muscle_cell0.65074919
87MP0004215_abnormal_myocardial_fiber0.64295542
88MP0000013_abnormal_adipose_tissue0.63845298
89MP0001664_abnormal_digestion0.62540452
90MP0005394_taste/olfaction_phenotype0.62492709
91MP0005499_abnormal_olfactory_system0.62492709
92MP0005623_abnormal_meninges_morphology0.60442781
93MP0001485_abnormal_pinna_reflex0.58285451
94MP0003137_abnormal_impulse_conducting0.58228019
95MP0005551_abnormal_eye_electrophysiolog0.57288848
96MP0004043_abnormal_pH_regulation0.57013069
97MP0004233_abnormal_muscle_weight0.55012706
98MP0000579_abnormal_nail_morphology0.54671721
99MP0001765_abnormal_ion_homeostasis0.51688144
100MP0005409_darkened_coat_color0.50794677
101MP0003183_abnormal_peptide_metabolism0.49758608
102MP0004742_abnormal_vestibular_system0.48870107
103MP0003956_abnormal_body_size0.48522174
104* MP0010768_mortality/aging0.48001643
105* MP0002752_abnormal_somatic_nervous0.47925318
106* MP0010769_abnormal_survival0.47637748
107MP0010770_preweaning_lethality0.47501062
108MP0002082_postnatal_lethality0.47501062
109MP0001943_abnormal_respiration0.46875576
110MP0000747_muscle_weakness0.46685869
111MP0000631_abnormal_neuroendocrine_gland0.46059970
112MP0001188_hyperpigmentation0.46001227
113MP0003045_fibrosis0.45894966
114MP0002873_normal_phenotype0.43558549

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.86062014
2Focal motor seizures (HP:0011153)8.25640308
3Focal seizures (HP:0007359)6.07201835
4Visual hallucinations (HP:0002367)5.52305043
5Epileptic encephalopathy (HP:0200134)4.76719412
6Atonic seizures (HP:0010819)4.34816943
7Febrile seizures (HP:0002373)4.34816424
8Action tremor (HP:0002345)4.34782531
9Progressive cerebellar ataxia (HP:0002073)4.29134179
10Impaired vibration sensation in the lower limbs (HP:0002166)4.14215102
11Generalized tonic-clonic seizures (HP:0002069)4.04095195
12Absence seizures (HP:0002121)4.00656404
13Ankle clonus (HP:0011448)3.76318148
14Dialeptic seizures (HP:0011146)3.73897601
15Abnormality of the lower motor neuron (HP:0002366)3.71205325
16Depression (HP:0000716)3.68634027
17Poor eye contact (HP:0000817)3.66380049
18Papilledema (HP:0001085)3.55604028
19Postural instability (HP:0002172)3.50061552
20Dysmetria (HP:0001310)3.48026431
21Supranuclear gaze palsy (HP:0000605)3.47452484
22Gaze-evoked nystagmus (HP:0000640)3.46640424
23Broad-based gait (HP:0002136)3.39141620
24Annular pancreas (HP:0001734)3.35232606
25Urinary bladder sphincter dysfunction (HP:0002839)3.34397483
26Cerebral hypomyelination (HP:0006808)3.29721159
27Dysdiadochokinesis (HP:0002075)3.29372674
28Impaired social interactions (HP:0000735)3.27546991
29Abnormal social behavior (HP:0012433)3.27546991
30Anxiety (HP:0000739)3.24526007
31Ventricular fibrillation (HP:0001663)3.15924509
32Amblyopia (HP:0000646)3.12132454
33Torticollis (HP:0000473)3.08810513
34Limb dystonia (HP:0002451)3.06522597
35Focal dystonia (HP:0004373)3.05972442
36Urinary urgency (HP:0000012)2.96160104
37Mutism (HP:0002300)2.92683914
38Abnormal eating behavior (HP:0100738)2.91983241
39Impaired smooth pursuit (HP:0007772)2.87221719
40Bundle branch block (HP:0011710)2.85151794
41Intention tremor (HP:0002080)2.84060788
42Impaired vibratory sensation (HP:0002495)2.83356131
43Stereotypic behavior (HP:0000733)2.82046507
44Hemiplegia (HP:0002301)2.81325486
45Akinesia (HP:0002304)2.80259934
46Truncal ataxia (HP:0002078)2.76002587
47Genetic anticipation (HP:0003743)2.72572991
48Bradykinesia (HP:0002067)2.71872627
49Spastic gait (HP:0002064)2.65057539
50Megalencephaly (HP:0001355)2.64820724
51Pointed chin (HP:0000307)2.62920089
52Hyperventilation (HP:0002883)2.60716508
53Craniofacial dystonia (HP:0012179)2.54557001
54Abnormality of ocular smooth pursuit (HP:0000617)2.49979395
55Abnormality of the corticospinal tract (HP:0002492)2.47181893
56Sleep apnea (HP:0010535)2.42426634
57Peripheral hypomyelination (HP:0007182)2.40597637
58Scanning speech (HP:0002168)2.40047832
59Dysmetric saccades (HP:0000641)2.37400104
60Hemiparesis (HP:0001269)2.33945090
61Obstructive sleep apnea (HP:0002870)2.32520093
62Insomnia (HP:0100785)2.31444490
63Diminished motivation (HP:0000745)2.27782396
64Neurofibrillary tangles (HP:0002185)2.26574250
65Excessive salivation (HP:0003781)2.26474496
66Drooling (HP:0002307)2.26474496
67Status epilepticus (HP:0002133)2.24360160
68Ankyloglossia (HP:0010296)2.23522112
69Cerebral inclusion bodies (HP:0100314)2.22720485
70Generalized myoclonic seizures (HP:0002123)2.21727382
71Epileptiform EEG discharges (HP:0011182)2.20941387
72Incomplete penetrance (HP:0003829)2.20450132
73Abnormality of binocular vision (HP:0011514)2.19733010
74Diplopia (HP:0000651)2.19733010
75Lower limb muscle weakness (HP:0007340)2.16649833
76Progressive inability to walk (HP:0002505)2.16273864
77Lower limb asymmetry (HP:0100559)2.15460285
78Choreoathetosis (HP:0001266)2.15144191
79Abnormality of the periventricular white matter (HP:0002518)2.14201522
80EEG with generalized epileptiform discharges (HP:0011198)2.08448496
81Fetal akinesia sequence (HP:0001989)2.07992382
82Abnormal EKG (HP:0003115)2.04554277
83CNS hypomyelination (HP:0003429)2.04252779
84Absent speech (HP:0001344)2.02501063
85Hypsarrhythmia (HP:0002521)2.02019041
86Degeneration of the lateral corticospinal tracts (HP:0002314)2.00503972
87Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.00503972
88Clonus (HP:0002169)1.99234875
89Delusions (HP:0000746)1.99003394
90Gait ataxia (HP:0002066)1.98993211
91Lower limb amyotrophy (HP:0007210)1.98665428
92Resting tremor (HP:0002322)1.98404033
93Rapidly progressive (HP:0003678)1.97871653
94Heart block (HP:0012722)1.95836896
95Rigidity (HP:0002063)1.93609800
96Insidious onset (HP:0003587)1.93165964
97Termporal pattern (HP:0011008)1.93165964
98Abnormality of saccadic eye movements (HP:0000570)1.90025423
99Morphological abnormality of the pyramidal tract (HP:0002062)1.89277501
100Memory impairment (HP:0002354)1.88066792
101Split foot (HP:0001839)1.87810847
102Spinal canal stenosis (HP:0003416)1.85492039
103Polyphagia (HP:0002591)1.84779387
104Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.80894039
105Apathy (HP:0000741)1.80286612
106Anosmia (HP:0000458)1.79480228
107Achilles tendon contracture (HP:0001771)1.78778769
108Intellectual disability, profound (HP:0002187)1.77736422
109Abnormal atrioventricular conduction (HP:0005150)1.76965743
110Unsteady gait (HP:0002317)1.73742642
111Inability to walk (HP:0002540)1.71337466
112Neuronal loss in central nervous system (HP:0002529)1.70538292
113Spastic tetraparesis (HP:0001285)1.70490177
114Tetraplegia (HP:0002445)1.66878112
115Increased circulating renin level (HP:0000848)1.65247919
116Aplasia involving bones of the upper limbs (HP:0009823)1.62552764
117Aplasia of the phalanges of the hand (HP:0009802)1.62552764
118Aplasia involving bones of the extremities (HP:0009825)1.62552764

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.33476493
2NTRK34.75640519
3MAP3K94.11230370
4PRKD33.29799966
5DAPK23.12748120
6KSR22.75595090
7MINK12.61351301
8PAK62.55749992
9MAP3K42.39575294
10CAMKK12.25619948
11RIPK41.88905133
12DAPK11.87865827
13MAP2K71.86792280
14PRPF4B1.83228207
15MAP3K131.79058762
16NTRK11.78763778
17MARK11.76742427
18KSR11.76209083
19NTRK21.75259577
20ARAF1.73482974
21STK381.67059328
22CDK51.65084430
23MAP2K41.59711461
24MAP3K21.46806045
25FES1.46512611
26MAP3K121.41557266
27TYRO31.38563954
28TNIK1.33269291
29TAOK11.31412094
30CDK191.29582534
31GRK51.25312342
32PRKCG1.21061029
33SIK21.18687380
34RAF11.18433892
35PLK21.15006758
36PTK2B1.14703322
37UHMK11.06463455
38PRKCH1.02320815
39MAPK121.01922833
40ALK0.99816652
41PDK10.98914143
42PINK10.97355886
43STK110.92818401
44CDK180.90654816
45CDK150.90564726
46MAP3K70.87794343
47MAPK130.83837937
48PDPK10.82639255
49CDK140.82472460
50LMTK20.81299385
51MAP3K10.80785844
52CDK11A0.79573535
53SGK4940.79405116
54SGK2230.79405116
55* CAMK10.78314799
56LATS20.77546029
57RET0.76568770
58CAMK2B0.76155738
59* CAMK2A0.75726905
60MAP3K110.75365260
61PAK30.74340020
62SGK30.72164111
63SGK10.68614927
64BRSK10.68115437
65CAMKK20.67930002
66MARK20.67881663
67NEK10.65836362
68LIMK10.65772765
69DMPK0.65338712
70SGK20.64896231
71NME10.64161043
72BMPR20.62502739
73TNK20.62041139
74RIPK10.61989727
75PHKG20.61116315
76PHKG10.61116315
77PKN10.61100071
78PNCK0.58991897
79DAPK30.57791159
80NEK60.57553103
81DYRK1A0.54375905
82CCNB10.52951678
83RPS6KA30.52511420
84OXSR10.51734789
85MAP2K10.49261415
86DDR20.45157196
87FYN0.44365375
88CDC42BPA0.43312511
89MAPK100.43303101
90PRKCZ0.43250515
91FER0.42429714
92TAOK20.40385060
93ROCK20.39756521
94MOS0.39511809
95PRKD20.36927404
96CAMK2G0.36661377
97MAP2K60.36367971
98CASK0.36229843
99PRKG20.35096476
100WNK10.34959210
101FGR0.33675635
102TESK10.33200850
103CAMK2D0.33160555
104BRAF0.31278018
105CSNK1G20.31172757
106CAMK1G0.30252039
107ROCK10.29470287
108PRKCE0.29237262
109OBSCN0.29020965
110BMX0.28663997
111FGFR20.28123156
112PRKG10.26399631
113* PRKCA0.25677576
114TRIB30.25010087
115MAPK80.24845844
116ERBB20.24404554
117JAK20.23823649
118IRAK20.23643885
119PRKACA0.22638326

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.29291403
2Synaptic vesicle cycle_Homo sapiens_hsa047213.25203130
3* Olfactory transduction_Homo sapiens_hsa047402.80117872
4* Circadian entrainment_Homo sapiens_hsa047132.72650675
5* Long-term potentiation_Homo sapiens_hsa047202.72395595
6Glutamatergic synapse_Homo sapiens_hsa047242.70090395
7GABAergic synapse_Homo sapiens_hsa047272.53514541
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53349395
9* Amphetamine addiction_Homo sapiens_hsa050312.43320241
10Morphine addiction_Homo sapiens_hsa050322.38768615
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.35309794
12Salivary secretion_Homo sapiens_hsa049702.33541315
13Nitrogen metabolism_Homo sapiens_hsa009102.12631043
14* Insulin secretion_Homo sapiens_hsa049112.03596634
15* Dopaminergic synapse_Homo sapiens_hsa047282.01258210
16* Gastric acid secretion_Homo sapiens_hsa049711.97497763
17* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.97090631
18* Cholinergic synapse_Homo sapiens_hsa047251.93750291
19* Oxytocin signaling pathway_Homo sapiens_hsa049211.76464376
20* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76061513
21Vitamin B6 metabolism_Homo sapiens_hsa007501.72458963
22* Calcium signaling pathway_Homo sapiens_hsa040201.67161128
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.66684942
24Long-term depression_Homo sapiens_hsa047301.58823909
25Renin secretion_Homo sapiens_hsa049241.56800589
26* GnRH signaling pathway_Homo sapiens_hsa049121.51320608
27Cocaine addiction_Homo sapiens_hsa050301.50972199
28Serotonergic synapse_Homo sapiens_hsa047261.38526211
29Taste transduction_Homo sapiens_hsa047421.37321632
30Gap junction_Homo sapiens_hsa045401.29912434
31Type II diabetes mellitus_Homo sapiens_hsa049301.29090424
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.28832511
33* cAMP signaling pathway_Homo sapiens_hsa040241.28367906
34* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27769745
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26227117
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23407881
37* Glioma_Homo sapiens_hsa052141.23030142
38Estrogen signaling pathway_Homo sapiens_hsa049151.17832453
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13219962
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.08444075
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02631378
42Vascular smooth muscle contraction_Homo sapiens_hsa042701.02334968
43Phospholipase D signaling pathway_Homo sapiens_hsa040721.00315888
44* ErbB signaling pathway_Homo sapiens_hsa040120.99136360
45Collecting duct acid secretion_Homo sapiens_hsa049660.99084529
46* Melanogenesis_Homo sapiens_hsa049160.98650712
47Axon guidance_Homo sapiens_hsa043600.94295618
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93717333
49Dorso-ventral axis formation_Homo sapiens_hsa043200.91725900
50Pancreatic secretion_Homo sapiens_hsa049720.91277938
51VEGF signaling pathway_Homo sapiens_hsa043700.87010687
52Thyroid hormone synthesis_Homo sapiens_hsa049180.85581755
53* Oocyte meiosis_Homo sapiens_hsa041140.83060280
54Choline metabolism in cancer_Homo sapiens_hsa052310.81686469
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80645327
56Cardiac muscle contraction_Homo sapiens_hsa042600.79797301
57Dilated cardiomyopathy_Homo sapiens_hsa054140.78597002
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.77404649
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73631047
60MAPK signaling pathway_Homo sapiens_hsa040100.72628977
61Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71601904
62Rap1 signaling pathway_Homo sapiens_hsa040150.67517877
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65843706
64mTOR signaling pathway_Homo sapiens_hsa041500.64954636
65Endocytosis_Homo sapiens_hsa041440.63867974
66* Neurotrophin signaling pathway_Homo sapiens_hsa047220.63216249
67Non-small cell lung cancer_Homo sapiens_hsa052230.63013165
68Vibrio cholerae infection_Homo sapiens_hsa051100.61670940
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.61010139
70Bile secretion_Homo sapiens_hsa049760.60498902
71Ras signaling pathway_Homo sapiens_hsa040140.60334549
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58423405
73African trypanosomiasis_Homo sapiens_hsa051430.54501523
74* Glucagon signaling pathway_Homo sapiens_hsa049220.53726365
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53661051
76Inositol phosphate metabolism_Homo sapiens_hsa005620.53464038
77Type I diabetes mellitus_Homo sapiens_hsa049400.53145566
78Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52616032
79Prion diseases_Homo sapiens_hsa050200.49997057
80Arginine and proline metabolism_Homo sapiens_hsa003300.49850841
81Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48372980
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45075113
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44321409
84Chemokine signaling pathway_Homo sapiens_hsa040620.43528820
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42725218
86Phototransduction_Homo sapiens_hsa047440.42376829
87Endometrial cancer_Homo sapiens_hsa052130.42290622
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41891876
89Arginine biosynthesis_Homo sapiens_hsa002200.41361497
90Insulin signaling pathway_Homo sapiens_hsa049100.40852957
91Circadian rhythm_Homo sapiens_hsa047100.40101896
92Alcoholism_Homo sapiens_hsa050340.40052476
93Mineral absorption_Homo sapiens_hsa049780.37878699
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.37675653
95Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37474982
96Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36370092
97Alzheimers disease_Homo sapiens_hsa050100.35894408
98Renal cell carcinoma_Homo sapiens_hsa052110.35375124
99Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33746585
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33681229
101Histidine metabolism_Homo sapiens_hsa003400.30835764
102Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30757619
103Ovarian steroidogenesis_Homo sapiens_hsa049130.30225089
104* Wnt signaling pathway_Homo sapiens_hsa043100.30057163
1052-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29505701
106Platelet activation_Homo sapiens_hsa046110.29323810
107Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.28632909
108Fatty acid biosynthesis_Homo sapiens_hsa000610.28500665
109Tight junction_Homo sapiens_hsa045300.26334075
110AMPK signaling pathway_Homo sapiens_hsa041520.23671595
111beta-Alanine metabolism_Homo sapiens_hsa004100.19706648
112Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.16531069
113Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.16495120

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