CACNG2

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 a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause the disorder autosomal dominant mental retardation-10 (MRD10). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)6.05220079
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.79989772
3synaptic vesicle exocytosis (GO:0016079)5.52865744
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.43764411
5neuron cell-cell adhesion (GO:0007158)5.33185558
6locomotory exploration behavior (GO:0035641)5.22842251
7* regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.22036817
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.14555186
9neuronal action potential propagation (GO:0019227)5.14261374
10protein localization to synapse (GO:0035418)5.04121195
11synaptic vesicle maturation (GO:0016188)4.97330152
12ionotropic glutamate receptor signaling pathway (GO:0035235)4.94690494
13glutamate secretion (GO:0014047)4.80612304
14* regulation of glutamate receptor signaling pathway (GO:1900449)4.78356928
15regulation of synaptic vesicle exocytosis (GO:2000300)4.74844856
16neurotransmitter secretion (GO:0007269)4.63680093
17behavioral response to nicotine (GO:0035095)4.61320253
18glutamate receptor signaling pathway (GO:0007215)4.57301741
19exploration behavior (GO:0035640)4.37233501
20regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.36119393
21synaptic transmission, glutamatergic (GO:0035249)4.28766473
22neuron-neuron synaptic transmission (GO:0007270)4.24185092
23regulation of synaptic vesicle transport (GO:1902803)4.21417799
24layer formation in cerebral cortex (GO:0021819)4.15755669
25dendritic spine morphogenesis (GO:0060997)4.14748184
26gamma-aminobutyric acid transport (GO:0015812)4.14384070
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.12996388
28synaptic vesicle docking involved in exocytosis (GO:0016081)4.11387508
29gamma-aminobutyric acid signaling pathway (GO:0007214)4.09512936
30neuron recognition (GO:0008038)4.05706361
31regulation of neuronal synaptic plasticity (GO:0048168)3.95963154
32regulation of excitatory postsynaptic membrane potential (GO:0060079)3.91972725
33neurotransmitter transport (GO:0006836)3.88481941
34negative regulation of synaptic transmission, GABAergic (GO:0032229)3.87932689
35neurotransmitter-gated ion channel clustering (GO:0072578)3.86561421
36long-term memory (GO:0007616)3.83911936
37regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.78167152
38regulation of postsynaptic membrane potential (GO:0060078)3.76770962
39serotonin metabolic process (GO:0042428)3.76486479
40positive regulation of membrane potential (GO:0045838)3.75645425
41cerebellar Purkinje cell differentiation (GO:0021702)3.72282254
42positive regulation of synapse maturation (GO:0090129)3.71249629
43postsynaptic membrane organization (GO:0001941)3.71084262
44proline transport (GO:0015824)3.68850834
45G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.68557330
46presynaptic membrane assembly (GO:0097105)3.65348686
47regulation of neurotransmitter levels (GO:0001505)3.60426798
48axonal fasciculation (GO:0007413)3.57804904
49regulation of synapse structural plasticity (GO:0051823)3.57070728
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.53892283
51positive regulation of synapse assembly (GO:0051965)3.51616364
52presynaptic membrane organization (GO:0097090)3.51490630
53mechanosensory behavior (GO:0007638)3.49278835
54cerebellar granule cell differentiation (GO:0021707)3.48557791
55cellular potassium ion homeostasis (GO:0030007)3.44340736
56axon ensheathment in central nervous system (GO:0032291)3.43422223
57central nervous system myelination (GO:0022010)3.43422223
58response to histamine (GO:0034776)3.43069434
59neuromuscular process controlling posture (GO:0050884)3.42986730
60potassium ion import (GO:0010107)3.42685920
61synaptic vesicle endocytosis (GO:0048488)3.42396944
62regulation of synaptic transmission, glutamatergic (GO:0051966)3.42162906
63positive regulation of potassium ion transmembrane transport (GO:1901381)3.41714528
64positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.41145150
65regulation of vesicle fusion (GO:0031338)3.39855091
66regulation of neurotransmitter secretion (GO:0046928)3.38381248
67regulation of dendritic spine morphogenesis (GO:0061001)3.36893982
68cochlea development (GO:0090102)3.34559501
69negative regulation of response to food (GO:0032096)3.33270703
70negative regulation of appetite (GO:0032099)3.33270703
71long-term synaptic potentiation (GO:0060291)3.32931299
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.32711723
73neuromuscular synaptic transmission (GO:0007274)3.30136798
74synapse assembly (GO:0007416)3.29682389
75primary amino compound metabolic process (GO:1901160)3.28807401
76regulation of synaptic plasticity (GO:0048167)3.27920308
77negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.26971800
78behavioral response to cocaine (GO:0048148)3.26708156
79* transmission of nerve impulse (GO:0019226)3.24940509
80neurofilament cytoskeleton organization (GO:0060052)3.24742016
81potassium ion homeostasis (GO:0055075)3.23736684
82* membrane depolarization (GO:0051899)3.23364380
83mating behavior (GO:0007617)3.21431934
84startle response (GO:0001964)3.21280527
85positive regulation of synaptic transmission, GABAergic (GO:0032230)3.18640886
86negative regulation of cytosolic calcium ion concentration (GO:0051481)3.18397979
87auditory behavior (GO:0031223)3.17922177
88mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.16687731
89social behavior (GO:0035176)3.16148967
90intraspecies interaction between organisms (GO:0051703)3.16148967
91regulation of neurotransmitter transport (GO:0051588)3.13289117
92parturition (GO:0007567)3.11198945
93learning (GO:0007612)3.10961291
94membrane depolarization during action potential (GO:0086010)3.10508540
95pyrimidine nucleobase catabolic process (GO:0006208)3.10306871
96positive regulation of dendritic spine development (GO:0060999)3.08105821
97activation of protein kinase A activity (GO:0034199)3.07719140
98regulation of synapse maturation (GO:0090128)3.07221758
99prepulse inhibition (GO:0060134)3.07135550
100dendrite morphogenesis (GO:0048813)3.06998768
101* synaptic transmission (GO:0007268)3.05322889
102negative regulation of microtubule polymerization (GO:0031115)3.04830179
103neuromuscular process controlling balance (GO:0050885)3.03961037
104regulation of dendritic spine development (GO:0060998)3.02495511
105response to auditory stimulus (GO:0010996)3.02480201
106sodium ion export (GO:0071436)3.01626124
107regulation of voltage-gated calcium channel activity (GO:1901385)3.01369350
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.00148824
109regulation of glutamate secretion (GO:0014048)2.99922861
110adult walking behavior (GO:0007628)2.98655451
111positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.98431593
112cell migration in hindbrain (GO:0021535)2.98055291
113positive regulation of neurotransmitter secretion (GO:0001956)2.97612703
114positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.97569589
115positive regulation of neurotransmitter transport (GO:0051590)2.95084498
116* membrane hyperpolarization (GO:0060081)2.94989694
117phosphorelay signal transduction system (GO:0000160)2.94733938
118behavioral fear response (GO:0001662)2.94575279
119behavioral defense response (GO:0002209)2.94575279
120detection of light stimulus involved in sensory perception (GO:0050962)2.94527202
121detection of light stimulus involved in visual perception (GO:0050908)2.94527202
122regulation of synaptic transmission (GO:0050804)2.94080395
123regulation of respiratory system process (GO:0044065)2.93578719
124cell differentiation in hindbrain (GO:0021533)2.91976775
125mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.91119467
126cellular potassium ion transport (GO:0071804)2.88701828
127potassium ion transmembrane transport (GO:0071805)2.88701828
128positive regulation of dendritic spine morphogenesis (GO:0061003)2.88469412
129positive regulation of glomerulus development (GO:0090193)2.85360561
130neuronal action potential (GO:0019228)2.84810971
131cellular sodium ion homeostasis (GO:0006883)2.80586463
132neuronal ion channel clustering (GO:0045161)2.79481372
133* multicellular organismal signaling (GO:0035637)2.79311569
134regulation of neurotransmitter uptake (GO:0051580)2.76371303
135energy coupled proton transport, down electrochemical gradient (GO:0015985)2.74489038
136ATP synthesis coupled proton transport (GO:0015986)2.74489038
137sulfation (GO:0051923)2.74228472
138regulation of glomerulus development (GO:0090192)2.74047664

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EZH2_22144423_ChIP-Seq_EOC_Human6.00273094
2GBX2_23144817_ChIP-Seq_PC3_Human3.71647848
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.27604232
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.22372034
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17188683
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79818331
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79818331
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75315101
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.74901790
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.69590982
11* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.68037588
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.64575542
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56525541
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52086649
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48907412
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.45184125
17TAF15_26573619_Chip-Seq_HEK293_Human2.33799796
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.31633250
19* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.30969377
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.27879744
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.22628568
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.20436986
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.18116269
24* DROSHA_22980978_ChIP-Seq_HELA_Human2.16916467
25* RARB_27405468_Chip-Seq_BRAIN_Mouse2.16080842
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.14520956
27CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07340516
28AR_21572438_ChIP-Seq_LNCaP_Human1.94701360
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.94659464
30* CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.85470739
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.82571460
32HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.77678866
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76951919
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74295287
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.70710303
36SMAD4_21799915_ChIP-Seq_A2780_Human1.70651484
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.68016908
38ZNF274_21170338_ChIP-Seq_K562_Hela1.62080880
39* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.59364189
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57430102
41* P300_19829295_ChIP-Seq_ESCs_Human1.56362951
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.55616733
43ERG_21242973_ChIP-ChIP_JURKAT_Human1.53921080
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46608232
45RNF2_27304074_Chip-Seq_NSC_Mouse1.43784195
46* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41885176
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39581234
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39322835
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38761357
50* SMAD3_21741376_ChIP-Seq_EPCs_Human1.35383410
51IGF1R_20145208_ChIP-Seq_DFB_Human1.34823133
52* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32859694
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32161834
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.31736808
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.31117570
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.30391259
57EWS_26573619_Chip-Seq_HEK293_Human1.30209166
58AR_25329375_ChIP-Seq_VCAP_Human1.30113786
59PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.29563368
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27811115
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25271681
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22753651
63FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.22126764
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20413032
65FUS_26573619_Chip-Seq_HEK293_Human1.20340415
66VDR_22108803_ChIP-Seq_LS180_Human1.19345287
67STAT3_23295773_ChIP-Seq_U87_Human1.19029886
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.17944590
69* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15437624
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14372304
71P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12824522
72* AR_19668381_ChIP-Seq_PC3_Human1.12081838
73MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.09756022
74RING1B_27294783_Chip-Seq_NPCs_Mouse1.08872670
75SMAD_19615063_ChIP-ChIP_OVARY_Human1.08848766
76TCF4_23295773_ChIP-Seq_U87_Human1.08823000
77RUNX2_22187159_ChIP-Seq_PCA_Human1.08679472
78CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07113673
79GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06966131
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06747711
81* ER_23166858_ChIP-Seq_MCF-7_Human1.04878717
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04439077
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03974265
84CBP_20019798_ChIP-Seq_JUKART_Human1.03974265
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02159865
86MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00622313
87ARNT_22903824_ChIP-Seq_MCF-7_Human0.99491184
88PRDM14_20953172_ChIP-Seq_ESCs_Human0.99159111
89DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98597816
90TCF4_22108803_ChIP-Seq_LS180_Human0.97543505
91TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96608440
92NANOG_18555785_Chip-Seq_ESCs_Mouse0.95919013
93KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.95743206
94JUN_21703547_ChIP-Seq_K562_Human0.95714347
95YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95575805
96NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95445335
97TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94457455
98* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94138965
99* POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94138965
100AHR_22903824_ChIP-Seq_MCF-7_Human0.92203351
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.92192266
102FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.91865658
103* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91277445
104FLI1_21867929_ChIP-Seq_TH2_Mouse0.90972551
105ZNF217_24962896_ChIP-Seq_MCF-7_Human0.90720475
106BCAT_22108803_ChIP-Seq_LS180_Human0.89818711
107TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.89187065
108TP53_16413492_ChIP-PET_HCT116_Human0.89065267
109* SMAD4_21741376_ChIP-Seq_EPCs_Human0.88861645
110RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88244454
111TP53_18474530_ChIP-ChIP_U2OS_Human0.87007872
112CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.86584841
113KDM2B_26808549_Chip-Seq_REH_Human0.85596866
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.82704102
115MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.82279744

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.57416579
2MP0003880_abnormal_central_pattern5.11795984
3* MP0003635_abnormal_synaptic_transmissio4.08481901
4MP0009046_muscle_twitch3.62359578
5MP0009745_abnormal_behavioral_response3.49262238
6MP0004270_analgesia3.28166095
7MP0002063_abnormal_learning/memory/cond3.22531578
8* MP0002064_seizures3.20920330
9MP0001968_abnormal_touch/_nociception3.11832524
10MP0005423_abnormal_somatic_nervous3.02472471
11MP0002572_abnormal_emotion/affect_behav2.92084503
12MP0002734_abnormal_mechanical_nocicepti2.72830420
13* MP0002272_abnormal_nervous_system2.71087471
14* MP0001486_abnormal_startle_reflex2.56399124
15MP0001501_abnormal_sleep_pattern2.46979183
16MP0002736_abnormal_nociception_after2.46128031
17MP0001440_abnormal_grooming_behavior2.45483939
18MP0006276_abnormal_autonomic_nervous2.42985904
19MP0002735_abnormal_chemical_nociception2.41689566
20MP0002822_catalepsy2.22487936
21* MP0002067_abnormal_sensory_capabilities2.19808223
22MP0002733_abnormal_thermal_nociception2.14814255
23MP0001970_abnormal_pain_threshold2.04348640
24MP0008877_abnormal_DNA_methylation2.02610992
25* MP0002184_abnormal_innervation2.01002537
26MP0008569_lethality_at_weaning1.93670803
27MP0002557_abnormal_social/conspecific_i1.91877062
28MP0000778_abnormal_nervous_system1.90550265
29MP0005386_behavior/neurological_phenoty1.88762497
30MP0004924_abnormal_behavior1.88762497
31MP0004142_abnormal_muscle_tone1.78304922
32MP0001529_abnormal_vocalization1.75356982
33MP0003122_maternal_imprinting1.70383100
34MP0005645_abnormal_hypothalamus_physiol1.63307383
35MP0003329_amyloid_beta_deposits1.63273217
36MP0001984_abnormal_olfaction1.62968719
37MP0004811_abnormal_neuron_physiology1.58593582
38MP0001905_abnormal_dopamine_level1.57923522
39MP0001188_hyperpigmentation1.50668506
40* MP0000955_abnormal_spinal_cord1.48223314
41* MP0002066_abnormal_motor_capabilities/c1.47376491
42MP0003879_abnormal_hair_cell1.45427686
43MP0005646_abnormal_pituitary_gland1.43235171
44* MP0002882_abnormal_neuron_morphology1.42392166
45MP0003646_muscle_fatigue1.42144343
46MP0002653_abnormal_ependyma_morphology1.39636905
47MP0006292_abnormal_olfactory_placode1.39374513
48MP0002909_abnormal_adrenal_gland1.37796482
49MP0009780_abnormal_chondrocyte_physiolo1.34122770
50MP0001502_abnormal_circadian_rhythm1.34097292
51MP0001986_abnormal_taste_sensitivity1.28379675
52MP0004742_abnormal_vestibular_system1.27964316
53MP0003787_abnormal_imprinting1.27004755
54MP0003123_paternal_imprinting1.26628054
55MP0004145_abnormal_muscle_electrophysio1.24175221
56MP0004858_abnormal_nervous_system1.22265813
57MP0004885_abnormal_endolymph1.19913902
58MP0004147_increased_porphyrin_level1.16105166
59MP0000751_myopathy1.12909979
60* MP0002152_abnormal_brain_morphology1.11811214
61MP0003633_abnormal_nervous_system1.11628301
62MP0005551_abnormal_eye_electrophysiolog1.05867854
63MP0008872_abnormal_physiological_respon1.04671089
64MP0010386_abnormal_urinary_bladder1.04339210
65MP0000569_abnormal_digit_pigmentation1.03083587
66MP0002837_dystrophic_cardiac_calcinosis1.01846350
67MP0003631_nervous_system_phenotype1.01706864
68MP0002229_neurodegeneration1.00930159
69MP0002638_abnormal_pupillary_reflex0.99514514
70MP0003283_abnormal_digestive_organ0.95468403
71MP0003938_abnormal_ear_development0.94937841
72MP0002069_abnormal_eating/drinking_beha0.93399890
73* MP0001963_abnormal_hearing_physiology0.89999849
74MP0004043_abnormal_pH_regulation0.89490232
75MP0003011_delayed_dark_adaptation0.88187847
76MP0005535_abnormal_body_temperature0.87349879
77* MP0002752_abnormal_somatic_nervous0.87289384
78MP0004085_abnormal_heartbeat0.86903228
79MP0005409_darkened_coat_color0.86739714
80MP0000631_abnormal_neuroendocrine_gland0.85925661
81MP0002160_abnormal_reproductive_system0.82918034
82MP0003632_abnormal_nervous_system0.82566664
83MP0005499_abnormal_olfactory_system0.82371324
84MP0005394_taste/olfaction_phenotype0.82371324
85MP0008874_decreased_physiological_sensi0.81736907
86MP0002876_abnormal_thyroid_physiology0.81494645
87MP0003878_abnormal_ear_physiology0.76380059
88MP0005377_hearing/vestibular/ear_phenot0.76380059
89MP0003634_abnormal_glial_cell0.75259488
90MP0004130_abnormal_muscle_cell0.75235381
91MP0003137_abnormal_impulse_conducting0.74502859
92MP0008875_abnormal_xenobiotic_pharmacok0.74049456
93MP0000013_abnormal_adipose_tissue0.73865682
94MP0001177_atelectasis0.72431198
95MP0005084_abnormal_gallbladder_morpholo0.72109439
96MP0004215_abnormal_myocardial_fiber0.71931145
97MP0000920_abnormal_myelination0.71635286
98MP0002234_abnormal_pharynx_morphology0.69427357
99MP0005253_abnormal_eye_physiology0.68553194
100MP0004484_altered_response_of0.67662863
101MP0001485_abnormal_pinna_reflex0.67095692
102MP0005389_reproductive_system_phenotype0.66962930
103MP0000604_amyloidosis0.66186838
104MP0005195_abnormal_posterior_eye0.65577690
105MP0004134_abnormal_chest_morphology0.64475571
106MP0006072_abnormal_retinal_apoptosis0.64409858
107MP0002090_abnormal_vision0.64096629
108MP0003690_abnormal_glial_cell0.63186619
109MP0001664_abnormal_digestion0.62807648
110MP0003121_genomic_imprinting0.61901753
111MP0000230_abnormal_systemic_arterial0.61532716
112MP0001943_abnormal_respiration0.61107872
113MP0004133_heterotaxia0.60921023
114* MP0000026_abnormal_inner_ear0.60355590
115MP0002102_abnormal_ear_morphology0.59669356
116* MP0003861_abnormal_nervous_system0.57003787
117MP0001919_abnormal_reproductive_system0.56447922
118MP0005187_abnormal_penis_morphology0.55892970
119MP0009379_abnormal_foot_pigmentation0.54898290
120* MP0010769_abnormal_survival0.54429911
121* MP0010770_preweaning_lethality0.54213222
122* MP0002082_postnatal_lethality0.54213222
123* MP0010768_mortality/aging0.51668784
124* MP0003956_abnormal_body_size0.49543487
125MP0005623_abnormal_meninges_morphology0.46703447
126MP0001299_abnormal_eye_distance/0.46392359

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.09383511
2Myokymia (HP:0002411)6.18857216
3Focal seizures (HP:0007359)6.02791586
4Atonic seizures (HP:0010819)5.58546724
5Visual hallucinations (HP:0002367)5.51337923
6Febrile seizures (HP:0002373)5.07425391
7Epileptic encephalopathy (HP:0200134)4.97853178
8Progressive cerebellar ataxia (HP:0002073)4.92127680
9Absence seizures (HP:0002121)4.75156710
10Dialeptic seizures (HP:0011146)4.29576916
11Generalized tonic-clonic seizures (HP:0002069)4.10210650
12Broad-based gait (HP:0002136)3.96960557
13Action tremor (HP:0002345)3.67931339
14Gaze-evoked nystagmus (HP:0000640)3.63203002
15Hyperventilation (HP:0002883)3.56123614
16Dysdiadochokinesis (HP:0002075)3.23789247
17Truncal ataxia (HP:0002078)3.15931307
18Progressive inability to walk (HP:0002505)3.14500114
19Supranuclear gaze palsy (HP:0000605)3.12913886
20Amblyopia (HP:0000646)3.12372736
21Abnormal eating behavior (HP:0100738)3.12368782
22Poor eye contact (HP:0000817)3.11424481
23Limb dystonia (HP:0002451)3.02566432
24Dysmetria (HP:0001310)3.00753866
25Anxiety (HP:0000739)3.00389715
26Mutism (HP:0002300)2.97772017
27Congenital stationary night blindness (HP:0007642)2.93188096
28Impaired vibration sensation in the lower limbs (HP:0002166)2.87053689
29Abnormal social behavior (HP:0012433)2.86116078
30Impaired social interactions (HP:0000735)2.86116078
31Polyphagia (HP:0002591)2.83651017
32Ankle clonus (HP:0011448)2.81297889
33Depression (HP:0000716)2.80975978
34Hemiparesis (HP:0001269)2.77673653
35Drooling (HP:0002307)2.74884077
36Excessive salivation (HP:0003781)2.74884077
37Scanning speech (HP:0002168)2.70360967
38Pancreatic cysts (HP:0001737)2.68876949
39Diplopia (HP:0000651)2.63631655
40Abnormality of binocular vision (HP:0011514)2.63631655
41Impaired smooth pursuit (HP:0007772)2.60395086
42Urinary bladder sphincter dysfunction (HP:0002839)2.59435223
43Genetic anticipation (HP:0003743)2.57956239
44Vaginal atresia (HP:0000148)2.57616195
45Chorioretinal atrophy (HP:0000533)2.57255314
46Optic nerve hypoplasia (HP:0000609)2.57006056
47Abnormality of macular pigmentation (HP:0008002)2.56520867
48Septo-optic dysplasia (HP:0100842)2.55238840
49Pancreatic fibrosis (HP:0100732)2.53545550
50Genital tract atresia (HP:0001827)2.53354372
51Abolished electroretinogram (ERG) (HP:0000550)2.47982416
52Epileptiform EEG discharges (HP:0011182)2.47882836
53Abnormality of the labia minora (HP:0012880)2.47626124
54Status epilepticus (HP:0002133)2.45087027
55Potter facies (HP:0002009)2.44679183
56Facial shape deformation (HP:0011334)2.44679183
57Fetal akinesia sequence (HP:0001989)2.42807182
58Medial flaring of the eyebrow (HP:0010747)2.42738454
59Inability to walk (HP:0002540)2.41564833
60Absent speech (HP:0001344)2.40678679
61EEG with generalized epileptiform discharges (HP:0011198)2.38620486
62Spastic gait (HP:0002064)2.38590548
63Mitochondrial inheritance (HP:0001427)2.38044093
64Pendular nystagmus (HP:0012043)2.37283130
65Abnormality of midbrain morphology (HP:0002418)2.36572889
66Molar tooth sign on MRI (HP:0002419)2.36572889
67Agitation (HP:0000713)2.35419181
68Cerebral inclusion bodies (HP:0100314)2.35279636
69Abnormality of the corticospinal tract (HP:0002492)2.33624166
70Pheochromocytoma (HP:0002666)2.33607778
71Hemiplegia (HP:0002301)2.32574831
72True hermaphroditism (HP:0010459)2.32432278
73Type II lissencephaly (HP:0007260)2.30594139
74Neurofibrillary tangles (HP:0002185)2.29795202
75Failure to thrive in infancy (HP:0001531)2.29564648
76Abnormality of ocular smooth pursuit (HP:0000617)2.28877875
77Postural instability (HP:0002172)2.28441549
78Nephronophthisis (HP:0000090)2.27837469
79Intention tremor (HP:0002080)2.26463572
80Urinary urgency (HP:0000012)2.26244390
81Generalized myoclonic seizures (HP:0002123)2.26221341
82Gait imbalance (HP:0002141)2.25845743
83Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.23547521
84Sleep apnea (HP:0010535)2.23282536
85Hypsarrhythmia (HP:0002521)2.22655499
86Stereotypic behavior (HP:0000733)2.18832175
87Absent rod-and cone-mediated responses on ERG (HP:0007688)2.18268259
88Insidious onset (HP:0003587)2.18132879
89Termporal pattern (HP:0011008)2.18132879
90Torticollis (HP:0000473)2.16770824
91Dysmetric saccades (HP:0000641)2.16096794
92Decreased central vision (HP:0007663)2.15832743
93Bradykinesia (HP:0002067)2.13825673
94Psychosis (HP:0000709)2.12466406
95Acute encephalopathy (HP:0006846)2.11061826
96Focal dystonia (HP:0004373)2.08150562
97Esotropia (HP:0000565)2.07550383
98Amyotrophic lateral sclerosis (HP:0007354)2.06877246
99Protruding tongue (HP:0010808)2.05926928
100Papilledema (HP:0001085)2.05116166
101Neuroendocrine neoplasm (HP:0100634)2.05049494
102Confusion (HP:0001289)2.04123651
103Specific learning disability (HP:0001328)2.03368292
104Polydipsia (HP:0001959)2.02303231
105Abnormal drinking behavior (HP:0030082)2.02303231
106Abnormal hair whorl (HP:0010721)2.00917912
107Acute necrotizing encephalopathy (HP:0006965)2.00350557
108Gait ataxia (HP:0002066)1.95514521
109Progressive macrocephaly (HP:0004481)1.94700232
110Hypoventilation (HP:0002791)1.94356293
111Abnormality of the lower motor neuron (HP:0002366)1.93022355
112Abnormal rod and cone electroretinograms (HP:0008323)1.91272287
113Impaired vibratory sensation (HP:0002495)1.90481916
114Blue irides (HP:0000635)1.89850802
115Hyperthyroidism (HP:0000836)1.89134841
116Absent/shortened dynein arms (HP:0200106)1.88332738
117Dynein arm defect of respiratory motile cilia (HP:0012255)1.88332738
118Abnormality of salivation (HP:0100755)1.87877211
119Neuronal loss in central nervous system (HP:0002529)1.87520113
120Incomplete penetrance (HP:0003829)1.86812650
121Keratoconus (HP:0000563)1.85268328
122Increased corneal curvature (HP:0100692)1.85268328
123Delusions (HP:0000746)1.84041187
124Craniofacial dystonia (HP:0012179)1.83959023
125Poor suck (HP:0002033)1.83318720
126Growth hormone deficiency (HP:0000824)1.83015835
127Postural tremor (HP:0002174)1.82865021
128Increased CSF lactate (HP:0002490)1.82779867
129Abnormal mitochondria in muscle tissue (HP:0008316)1.81491862
130Lower limb muscle weakness (HP:0007340)1.81489570
131Abnormality of saccadic eye movements (HP:0000570)1.81129388
132Congenital primary aphakia (HP:0007707)1.80728801
133Narrow nasal bridge (HP:0000446)1.79767401
134Ventricular fibrillation (HP:0001663)1.79115054
135Abnormality of the renal medulla (HP:0100957)1.78427738
136Retinal dysplasia (HP:0007973)1.78407447
137Asplenia (HP:0001746)1.76291273
138Absent septum pellucidum (HP:0001331)1.74575520
139Increased hepatocellular lipid droplets (HP:0006565)1.70674342
140Severe visual impairment (HP:0001141)1.69063478
141Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.68935547
142Degeneration of the lateral corticospinal tracts (HP:0002314)1.68935547
143Sclerocornea (HP:0000647)1.67011591
144Hepatocellular necrosis (HP:0001404)1.66593994
145Akinesia (HP:0002304)1.64359491

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.23530693
2EPHA43.52698628
3MAP3K43.50737202
4MARK13.36144120
5MAP3K93.35966153
6MAP2K73.17898825
7CASK2.85787283
8MAP3K122.75013327
9MINK12.72495950
10NTRK22.42161293
11PNCK2.31896771
12MAP2K42.25494405
13FRK2.24972582
14DAPK22.13626471
15PAK62.04845938
16GRK11.92445052
17RIPK41.78297528
18SIK21.75952898
19TNIK1.75204130
20MAPK131.73841742
21WNK41.66360792
22CDK191.63646956
23GRK51.62491745
24PLK21.59006673
25ZAK1.57617871
26CDK51.49748105
27NTRK11.43366455
28UHMK11.41323518
29DAPK11.37541596
30CAMKK11.36191404
31STK161.35552714
32KSR11.33625201
33DYRK21.33159308
34PRPF4B1.32341252
35KSR21.31325911
36PRKCG1.29014547
37CAMKK21.26187531
38FES1.25898576
39ARAF1.15325881
40CAMK2A1.15140257
41OXSR11.10340513
42STK381.10191015
43MAP4K21.09054850
44PHKG10.99361579
45PHKG20.99361579
46CAMK2B0.98737160
47TLK10.97279727
48TAOK30.96432426
49PRKD30.96378487
50NME10.95278069
51CDK180.94596783
52CDK150.92011916
53MAPK150.89516467
54CDK140.89128577
55MAP3K110.86242065
56SGK4940.85365427
57SGK2230.85365427
58STK110.84577040
59TYRO30.84469265
60DYRK1A0.84311098
61LATS20.81579439
62CAMK10.80542703
63CDK11A0.80473345
64CSNK1G20.78071229
65BMPR20.77329445
66PAK30.76359406
67BMPR1B0.74349286
68WNK10.74136861
69MAPKAPK30.73297167
70GRK70.72151363
71SGK20.71262024
72INSRR0.69257431
73FGR0.67042300
74MAP3K130.64755570
75PTK2B0.64163205
76ACVR1B0.63595284
77PRKCE0.62811733
78PRKCA0.62738849
79PRKCQ0.62714844
80SGK10.61898630
81CDC70.61067824
82CAMK2G0.60907291
83CAMK2D0.59864976
84WNK30.59536114
85PRKCH0.58792752
86TNK20.58780314
87PRKG10.58287716
88VRK10.58065536
89MARK20.57013755
90CSNK1G10.56326912
91RET0.56210197
92MUSK0.54459653
93NUAK10.52854533
94BCR0.52410850
95CAMK1G0.51343560
96AKT30.51227389
97PINK10.50719831
98ROCK20.50562064
99MAP3K60.50414005
100STK390.49978238
101CSNK1A1L0.49868642
102PRKCZ0.49212141
103TXK0.49118327
104RAF10.48724301
105ADRBK10.48205372
106MAP3K20.47744305
107SIK30.47530413
108CCNB10.47112022
109CSNK1A10.46407612
110ERBB20.45982934
111PKN10.45723965
112LIMK10.44590937
113RPS6KA30.43999682
114SGK30.42515423
115FER0.41453552
116MAPK120.41314530
117ALK0.41298797
118FYN0.40672955
119CSNK1G30.40598137
120PRKCB0.40160663
121MAPKAPK50.40090623
122GRK60.40007040
123CAMK40.39405652
124ADRBK20.38785462
125MAPK100.38214365
126CDC42BPA0.37416701
127* PRKACA0.37208268
128LMTK20.36024210
129PDPK10.35992580

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.43300324
2Synaptic vesicle cycle_Homo sapiens_hsa047213.50814910
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.95139612
4GABAergic synapse_Homo sapiens_hsa047272.85310424
5Glutamatergic synapse_Homo sapiens_hsa047242.66742008
6Long-term potentiation_Homo sapiens_hsa047202.59785814
7Morphine addiction_Homo sapiens_hsa050322.59120261
8Circadian entrainment_Homo sapiens_hsa047132.58496850
9Olfactory transduction_Homo sapiens_hsa047402.50609851
10Amphetamine addiction_Homo sapiens_hsa050312.41206952
11Taste transduction_Homo sapiens_hsa047422.19376331
12Dopaminergic synapse_Homo sapiens_hsa047282.19363117
13Salivary secretion_Homo sapiens_hsa049702.13015728
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.03278140
15Collecting duct acid secretion_Homo sapiens_hsa049661.96207242
16Long-term depression_Homo sapiens_hsa047301.95473673
17Serotonergic synapse_Homo sapiens_hsa047261.92976232
18Insulin secretion_Homo sapiens_hsa049111.87056791
19Cholinergic synapse_Homo sapiens_hsa047251.82759960
20Gastric acid secretion_Homo sapiens_hsa049711.78495251
21Cocaine addiction_Homo sapiens_hsa050301.71891720
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68326077
23Renin secretion_Homo sapiens_hsa049241.66486216
24Oxidative phosphorylation_Homo sapiens_hsa001901.65585255
25Nitrogen metabolism_Homo sapiens_hsa009101.61381659
26Calcium signaling pathway_Homo sapiens_hsa040201.60275082
27* Oxytocin signaling pathway_Homo sapiens_hsa049211.51425439
28* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.50611282
29* Cardiac muscle contraction_Homo sapiens_hsa042601.45986622
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.41508889
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37291268
32Alzheimers disease_Homo sapiens_hsa050101.36616325
33GnRH signaling pathway_Homo sapiens_hsa049121.35823256
34Gap junction_Homo sapiens_hsa045401.31806048
35Parkinsons disease_Homo sapiens_hsa050121.30832437
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29990634
37Vibrio cholerae infection_Homo sapiens_hsa051101.17977177
38Axon guidance_Homo sapiens_hsa043601.17679916
39cAMP signaling pathway_Homo sapiens_hsa040241.12616673
40Linoleic acid metabolism_Homo sapiens_hsa005911.10844346
41Estrogen signaling pathway_Homo sapiens_hsa049151.07841003
42Phototransduction_Homo sapiens_hsa047441.07044687
43Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.05438068
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.01769669
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.01441162
46Phosphatidylinositol signaling system_Homo sapiens_hsa040701.00686104
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.99000343
48Type II diabetes mellitus_Homo sapiens_hsa049300.97354041
49Melanogenesis_Homo sapiens_hsa049160.95224829
50Protein export_Homo sapiens_hsa030600.93462226
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92758538
52ErbB signaling pathway_Homo sapiens_hsa040120.92426169
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90809042
54Huntingtons disease_Homo sapiens_hsa050160.90204188
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.83592642
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.82555181
57Glioma_Homo sapiens_hsa052140.81578477
58Pancreatic secretion_Homo sapiens_hsa049720.80598826
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76400652
60Oocyte meiosis_Homo sapiens_hsa041140.74384132
61Thyroid hormone synthesis_Homo sapiens_hsa049180.71621639
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70823778
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.70305318
64Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68771236
65Steroid hormone biosynthesis_Homo sapiens_hsa001400.67349037
66Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.64454032
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.63370036
68* MAPK signaling pathway_Homo sapiens_hsa040100.63109827
69Dorso-ventral axis formation_Homo sapiens_hsa043200.62440939
70Maturity onset diabetes of the young_Homo sapiens_hsa049500.61484656
71beta-Alanine metabolism_Homo sapiens_hsa004100.61371685
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61221376
73Choline metabolism in cancer_Homo sapiens_hsa052310.60551342
74Caffeine metabolism_Homo sapiens_hsa002320.60339244
75Ether lipid metabolism_Homo sapiens_hsa005650.59626606
76Chemical carcinogenesis_Homo sapiens_hsa052040.58885165
77RNA polymerase_Homo sapiens_hsa030200.58363152
78Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.56092971
79Ribosome_Homo sapiens_hsa030100.55210345
80* Dilated cardiomyopathy_Homo sapiens_hsa054140.54762238
81Mineral absorption_Homo sapiens_hsa049780.54041418
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53997729
83Type I diabetes mellitus_Homo sapiens_hsa049400.53581660
84Retinol metabolism_Homo sapiens_hsa008300.53318104
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52592608
86Alcoholism_Homo sapiens_hsa050340.51389768
87Ras signaling pathway_Homo sapiens_hsa040140.49419226
88Inositol phosphate metabolism_Homo sapiens_hsa005620.45188474
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.45059743
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.44376842
91Regulation of autophagy_Homo sapiens_hsa041400.44267968
92Glucagon signaling pathway_Homo sapiens_hsa049220.43956682
93Tryptophan metabolism_Homo sapiens_hsa003800.43309617
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.42983167
95Histidine metabolism_Homo sapiens_hsa003400.42853695
96Primary bile acid biosynthesis_Homo sapiens_hsa001200.42829342
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.42117193
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.41524611
99Rheumatoid arthritis_Homo sapiens_hsa053230.41499521
100African trypanosomiasis_Homo sapiens_hsa051430.41219929
101Glycerolipid metabolism_Homo sapiens_hsa005610.40715359
102Rap1 signaling pathway_Homo sapiens_hsa040150.40618253
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.38291579
104Wnt signaling pathway_Homo sapiens_hsa043100.37275419
105VEGF signaling pathway_Homo sapiens_hsa043700.37231734
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36994407
107Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36312964
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34317827
109Circadian rhythm_Homo sapiens_hsa047100.34065058
110Ovarian steroidogenesis_Homo sapiens_hsa049130.33331080
111Renal cell carcinoma_Homo sapiens_hsa052110.33122530
112Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32657743
113Butanoate metabolism_Homo sapiens_hsa006500.32615585
114Prion diseases_Homo sapiens_hsa050200.29904160
115Bile secretion_Homo sapiens_hsa049760.29533220
116Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28338834
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27933549
118Endocytosis_Homo sapiens_hsa041440.27175370
119Phagosome_Homo sapiens_hsa041450.25117018
120Fatty acid biosynthesis_Homo sapiens_hsa000610.24745348
121Arachidonic acid metabolism_Homo sapiens_hsa005900.24658714
122* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.24292137
123Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23472771
124Insulin signaling pathway_Homo sapiens_hsa049100.22458148
125Hedgehog signaling pathway_Homo sapiens_hsa043400.22349732
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.21458084
127Melanoma_Homo sapiens_hsa052180.20659772

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