GRIA2

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: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.70121540
2* ionotropic glutamate receptor signaling pathway (GO:0035235)5.62655553
3vocalization behavior (GO:0071625)5.40766340
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.37708852
5neuron cell-cell adhesion (GO:0007158)5.30137926
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.28165157
7* glutamate receptor signaling pathway (GO:0007215)5.27625263
8protein localization to synapse (GO:0035418)5.01223165
9regulation of glutamate receptor signaling pathway (GO:1900449)4.90552312
10* synaptic transmission, glutamatergic (GO:0035249)4.88751000
11glutamate secretion (GO:0014047)4.83182416
12locomotory exploration behavior (GO:0035641)4.77248656
13synaptic vesicle exocytosis (GO:0016079)4.71195158
14regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.66794930
15* neuron-neuron synaptic transmission (GO:0007270)4.66331294
16neuron recognition (GO:0008038)4.64500021
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.55471814
18gamma-aminobutyric acid signaling pathway (GO:0007214)4.44709304
19neuronal action potential propagation (GO:0019227)4.43664675
20synaptic vesicle docking involved in exocytosis (GO:0016081)4.40651119
21auditory behavior (GO:0031223)4.32523415
22G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.31753209
23regulation of synaptic vesicle exocytosis (GO:2000300)4.28042820
24regulation of excitatory postsynaptic membrane potential (GO:0060079)4.27786799
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.27521649
26presynaptic membrane assembly (GO:0097105)4.26911492
27neurotransmitter-gated ion channel clustering (GO:0072578)4.25060296
28exploration behavior (GO:0035640)4.20083733
29behavioral defense response (GO:0002209)4.14913985
30behavioral fear response (GO:0001662)4.14913985
31regulation of postsynaptic membrane potential (GO:0060078)4.09627319
32positive regulation of synapse maturation (GO:0090129)4.07312806
33regulation of neuronal synaptic plasticity (GO:0048168)4.05333123
34negative regulation of synaptic transmission, glutamatergic (GO:0051967)4.02869621
35regulation of synaptic vesicle transport (GO:1902803)4.01393170
36axonal fasciculation (GO:0007413)3.95759536
37synaptic vesicle maturation (GO:0016188)3.95281751
38negative regulation of synaptic transmission, GABAergic (GO:0032229)3.94928835
39response to histamine (GO:0034776)3.90976826
40presynaptic membrane organization (GO:0097090)3.90756375
41fear response (GO:0042596)3.89574161
42long-term memory (GO:0007616)3.89211243
43regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.86032891
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.86014316
45postsynaptic membrane organization (GO:0001941)3.85678671
46L-amino acid import (GO:0043092)3.85563470
47regulation of synaptic transmission, glutamatergic (GO:0051966)3.82661681
48neurotransmitter secretion (GO:0007269)3.81960041
49pyrimidine nucleobase catabolic process (GO:0006208)3.79106649
50mechanosensory behavior (GO:0007638)3.78865450
51long-term synaptic potentiation (GO:0060291)3.75290992
52sodium ion export (GO:0071436)3.73734300
53transmission of nerve impulse (GO:0019226)3.73062787
54regulation of dendritic spine morphogenesis (GO:0061001)3.68419464
55regulation of synaptic plasticity (GO:0048167)3.67120394
56gamma-aminobutyric acid transport (GO:0015812)3.63247214
57membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59321909
58positive regulation of neurotransmitter secretion (GO:0001956)3.57864330
59synaptic vesicle endocytosis (GO:0048488)3.57016729
60startle response (GO:0001964)3.56440171
61C4-dicarboxylate transport (GO:0015740)3.53502395
62positive regulation of membrane potential (GO:0045838)3.52046372
63neuronal ion channel clustering (GO:0045161)3.48116790
64positive regulation of dendritic spine morphogenesis (GO:0061003)3.48106035
65amino acid import (GO:0043090)3.45727828
66membrane depolarization (GO:0051899)3.45646465
67dendrite morphogenesis (GO:0048813)3.44978580
68response to auditory stimulus (GO:0010996)3.40676366
69regulation of synapse maturation (GO:0090128)3.39278045
70cerebellar granule cell differentiation (GO:0021707)3.38618286
71regulation of synapse structural plasticity (GO:0051823)3.38466304
72dendritic spine morphogenesis (GO:0060997)3.38443377
73regulation of vesicle fusion (GO:0031338)3.34079060
74nucleobase catabolic process (GO:0046113)3.33091938
75regulation of respiratory system process (GO:0044065)3.32269497
76membrane depolarization during action potential (GO:0086010)3.31358519
77regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.30359538
78central nervous system myelination (GO:0022010)3.30247386
79axon ensheathment in central nervous system (GO:0032291)3.30247386
80cellular potassium ion homeostasis (GO:0030007)3.29337269
81positive regulation of dendritic spine development (GO:0060999)3.27209068
82regulation of dendritic spine development (GO:0060998)3.26549982
83innervation (GO:0060384)3.25787350
84learning (GO:0007612)3.25682223
85neurotransmitter transport (GO:0006836)3.25366883
86cochlea development (GO:0090102)3.23052404
87positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.22476420
88cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.20576717
89regulation of glutamate secretion (GO:0014048)3.18789873
90negative regulation of dendrite development (GO:2000171)3.17807716
91regulation of axon regeneration (GO:0048679)3.16098745
92regulation of neuron projection regeneration (GO:0070570)3.16098745
93synapse assembly (GO:0007416)3.15094150
94regulation of neurotransmitter secretion (GO:0046928)3.15030077
95central nervous system projection neuron axonogenesis (GO:0021952)3.14685885
96cell migration in hindbrain (GO:0021535)3.14345542
97positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.14271894
98G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.12490768
99cerebellar Purkinje cell differentiation (GO:0021702)3.12010406
100positive regulation of synapse assembly (GO:0051965)3.10929751
101long term synaptic depression (GO:0060292)3.10796112
102adult walking behavior (GO:0007628)3.10514155
103potassium ion homeostasis (GO:0055075)3.09731818
104positive regulation of neurotransmitter transport (GO:0051590)3.09619994
105serotonin metabolic process (GO:0042428)3.08999232
106proline transport (GO:0015824)3.08254121
107regulation of voltage-gated calcium channel activity (GO:1901385)3.05852278
108positive regulation of synaptic transmission, GABAergic (GO:0032230)3.04906241
109layer formation in cerebral cortex (GO:0021819)3.04775675
110* synaptic transmission (GO:0007268)3.03862682
111regulation of synaptic transmission (GO:0050804)3.02684668
112regulation of neurotransmitter transport (GO:0051588)3.02409747
113neurotransmitter uptake (GO:0001504)3.00849102
114regulation of neurotransmitter levels (GO:0001505)3.00005014
115neuromuscular process controlling balance (GO:0050885)2.99936173
116glycosphingolipid biosynthetic process (GO:0006688)2.99859167
117membrane hyperpolarization (GO:0060081)2.98541237
118acidic amino acid transport (GO:0015800)2.98497859
119cellular sodium ion homeostasis (GO:0006883)2.97269220
120behavioral response to cocaine (GO:0048148)2.96925114
121suckling behavior (GO:0001967)2.96262621
122regulation of synapse assembly (GO:0051963)2.95858193
123dendritic spine organization (GO:0097061)2.95555939
124positive regulation of synaptic transmission (GO:0050806)2.92149787
125regulation of respiratory gaseous exchange (GO:0043576)2.92135014
126detection of calcium ion (GO:0005513)2.91667149
127regulation of synapse organization (GO:0050807)2.90436431
128synapse organization (GO:0050808)2.86492161

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.44609911
2GBX2_23144817_ChIP-Seq_PC3_Human4.51082511
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01851604
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94166154
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92444875
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58812389
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52169641
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52169641
9* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48129083
10REST_21632747_ChIP-Seq_MESCs_Mouse2.46833345
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.45405118
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.41045768
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.32323665
14* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.31654210
15TAF15_26573619_Chip-Seq_HEK293_Human2.29485374
16* EED_16625203_ChIP-ChIP_MESCs_Mouse2.28811785
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.27337571
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.20213660
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.17520115
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.14306436
21DROSHA_22980978_ChIP-Seq_HELA_Human2.13504731
22CTBP1_25329375_ChIP-Seq_LNCAP_Human2.12867477
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09754862
24* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02544972
25* EZH2_27294783_Chip-Seq_ESCs_Mouse2.01638138
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.00188245
27SUZ12_27294783_Chip-Seq_ESCs_Mouse1.96713736
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.96488256
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.90342943
30* REST_18959480_ChIP-ChIP_MESCs_Mouse1.90292319
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86104863
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.85778463
33IKZF1_21737484_ChIP-ChIP_HCT116_Human1.83086383
34P300_19829295_ChIP-Seq_ESCs_Human1.76450232
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72706629
36AR_21572438_ChIP-Seq_LNCaP_Human1.71198397
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.68983459
38FUS_26573619_Chip-Seq_HEK293_Human1.64677018
39* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.59800168
40PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.57248643
41VDR_22108803_ChIP-Seq_LS180_Human1.56255437
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.54581462
43ZNF274_21170338_ChIP-Seq_K562_Hela1.53421808
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.51526641
45CBX2_27304074_Chip-Seq_ESCs_Mouse1.51435453
46BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51320855
47HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48631156
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.48496042
49AR_25329375_ChIP-Seq_VCAP_Human1.44292975
50SMAD_19615063_ChIP-ChIP_OVARY_Human1.42791510
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41798614
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39269287
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38787436
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36587757
55IGF1R_20145208_ChIP-Seq_DFB_Human1.35677729
56MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35190001
57STAT3_23295773_ChIP-Seq_U87_Human1.34239299
58* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34212089
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.33619601
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33548412
61TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32546847
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.28511970
63* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26377125
64* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.25749947
65ERG_21242973_ChIP-ChIP_JURKAT_Human1.24940309
66* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24654728
67UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.22590666
68TP53_16413492_ChIP-PET_HCT116_Human1.21304921
69* TCF4_23295773_ChIP-Seq_U87_Human1.20740569
70RNF2_27304074_Chip-Seq_NSC_Mouse1.19619146
71AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18856868
72TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17667106
73RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.16132960
74EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15963066
75RING1B_27294783_Chip-Seq_ESCs_Mouse1.15854818
76NANOG_18555785_Chip-Seq_ESCs_Mouse1.14884493
77AR_19668381_ChIP-Seq_PC3_Human1.14454468
78* PRDM14_20953172_ChIP-Seq_ESCs_Human1.13056270
79LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12428887
80SOX9_26525672_Chip-Seq_HEART_Mouse1.11987454
81RUNX2_22187159_ChIP-Seq_PCA_Human1.10595277
82* ARNT_22903824_ChIP-Seq_MCF-7_Human1.10285868
83TP53_18474530_ChIP-ChIP_U2OS_Human1.10159586
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09596471
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09556494
86JUN_21703547_ChIP-Seq_K562_Human1.08992262
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.06642020
88TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06642020
89YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06618412
90P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04319592
91FLI1_21867929_ChIP-Seq_TH2_Mouse1.03912324
92KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03529632
93* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03231441
94ER_23166858_ChIP-Seq_MCF-7_Human1.02496280
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02218338
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01871070
97IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.01226549
98CBP_20019798_ChIP-Seq_JUKART_Human1.01226549
99E2F1_18555785_Chip-Seq_ESCs_Mouse1.01055994
100SMAD3_21741376_ChIP-Seq_ESCs_Human1.00906202
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00651368
102CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.99788082
103RING1B_27294783_Chip-Seq_NPCs_Mouse0.99420589
104* AHR_22903824_ChIP-Seq_MCF-7_Human0.99053390
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98381290
106BCAT_22108803_ChIP-Seq_LS180_Human0.97259789
107TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.96861436
108EWS_26573619_Chip-Seq_HEK293_Human0.96533661
109TAL1_26923725_Chip-Seq_HPCs_Mouse0.96139547
110KDM2B_26808549_Chip-Seq_REH_Human0.95738153
111WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95097893
112FLI1_27457419_Chip-Seq_LIVER_Mouse0.94721172
113RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.94296228
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93280844

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0004859_abnormal_synaptic_plasticity6.06003402
2MP0003880_abnormal_central_pattern6.04593604
3* MP0003635_abnormal_synaptic_transmissio4.17475958
4MP0009745_abnormal_behavioral_response3.68387622
5* MP0002063_abnormal_learning/memory/cond3.49343107
6MP0004270_analgesia3.39536289
7* MP0002064_seizures3.16516300
8* MP0002572_abnormal_emotion/affect_behav3.06116661
9* MP0001968_abnormal_touch/_nociception2.87793497
10MP0009046_muscle_twitch2.84916528
11MP0001501_abnormal_sleep_pattern2.83722951
12* MP0002272_abnormal_nervous_system2.66854349
13MP0001486_abnormal_startle_reflex2.51388135
14MP0002822_catalepsy2.40784005
15MP0005423_abnormal_somatic_nervous2.35836811
16* MP0002735_abnormal_chemical_nociception2.33996380
17MP0002734_abnormal_mechanical_nocicepti2.32961846
18* MP0002736_abnormal_nociception_after2.26688209
19* MP0001440_abnormal_grooming_behavior2.21296532
20* MP0002067_abnormal_sensory_capabilities2.14085347
21MP0000778_abnormal_nervous_system2.01911261
22MP0002184_abnormal_innervation1.91469377
23MP0000569_abnormal_digit_pigmentation1.91207775
24MP0006276_abnormal_autonomic_nervous1.90371282
25MP0002733_abnormal_thermal_nociception1.89691886
26MP0001188_hyperpigmentation1.87710105
27MP0004924_abnormal_behavior1.74160296
28MP0005386_behavior/neurological_phenoty1.74160296
29* MP0001970_abnormal_pain_threshold1.73326056
30MP0003329_amyloid_beta_deposits1.67854396
31* MP0002557_abnormal_social/conspecific_i1.67553454
32MP0003787_abnormal_imprinting1.65340654
33MP0003879_abnormal_hair_cell1.59200616
34MP0008569_lethality_at_weaning1.57765681
35MP0001984_abnormal_olfaction1.55467796
36MP0005646_abnormal_pituitary_gland1.51424973
37MP0001529_abnormal_vocalization1.50296184
38MP0009780_abnormal_chondrocyte_physiolo1.49807740
39* MP0000955_abnormal_spinal_cord1.49606361
40* MP0004811_abnormal_neuron_physiology1.43036851
41MP0004885_abnormal_endolymph1.40878398
42* MP0002882_abnormal_neuron_morphology1.39892436
43* MP0002066_abnormal_motor_capabilities/c1.38738510
44MP0002909_abnormal_adrenal_gland1.34847778
45MP0004858_abnormal_nervous_system1.34223088
46MP0001502_abnormal_circadian_rhythm1.31842944
47MP0008877_abnormal_DNA_methylation1.31682213
48MP0002837_dystrophic_cardiac_calcinosis1.27559901
49MP0004142_abnormal_muscle_tone1.26304457
50MP0005409_darkened_coat_color1.25952649
51MP0001905_abnormal_dopamine_level1.24926837
52MP0005645_abnormal_hypothalamus_physiol1.23350394
53MP0006292_abnormal_olfactory_placode1.22407084
54MP0003121_genomic_imprinting1.18465272
55MP0003633_abnormal_nervous_system1.17355396
56MP0004145_abnormal_muscle_electrophysio1.14593023
57MP0002876_abnormal_thyroid_physiology1.12816732
58MP0005551_abnormal_eye_electrophysiolog1.11988386
59MP0004742_abnormal_vestibular_system1.10702090
60MP0001986_abnormal_taste_sensitivity1.08064655
61* MP0002152_abnormal_brain_morphology1.08019478
62MP0003631_nervous_system_phenotype1.02499649
63MP0001963_abnormal_hearing_physiology0.97769773
64MP0005187_abnormal_penis_morphology0.96620818
65MP0002069_abnormal_eating/drinking_beha0.95981560
66MP0008872_abnormal_physiological_respon0.93041620
67MP0003122_maternal_imprinting0.92172974
68MP0004085_abnormal_heartbeat0.92005213
69MP0010386_abnormal_urinary_bladder0.89829504
70MP0004215_abnormal_myocardial_fiber0.86826796
71MP0008874_decreased_physiological_sensi0.86720642
72MP0005171_absent_coat_pigmentation0.85397269
73MP0002752_abnormal_somatic_nervous0.84910245
74MP0004043_abnormal_pH_regulation0.84106007
75* MP0002229_neurodegeneration0.83287665
76MP0000631_abnormal_neuroendocrine_gland0.82390656
77MP0004484_altered_response_of0.81851672
78MP0003123_paternal_imprinting0.81056990
79MP0000751_myopathy0.80842908
80MP0001485_abnormal_pinna_reflex0.80131332
81MP0004510_myositis0.78512842
82MP0005253_abnormal_eye_physiology0.76029126
83MP0004147_increased_porphyrin_level0.75715904
84MP0000013_abnormal_adipose_tissue0.74709872
85MP0001177_atelectasis0.74586002
86MP0003632_abnormal_nervous_system0.73457280
87MP0005535_abnormal_body_temperature0.72911549
88MP0000026_abnormal_inner_ear0.71904986
89MP0002234_abnormal_pharynx_morphology0.68370603
90MP0000604_amyloidosis0.67252326
91MP0005499_abnormal_olfactory_system0.66349415
92MP0005394_taste/olfaction_phenotype0.66349415
93MP0001664_abnormal_digestion0.66299354
94* MP0010768_mortality/aging0.63220771
95MP0002751_abnormal_autonomic_nervous0.63188597
96MP0004133_heterotaxia0.61830723
97MP0002102_abnormal_ear_morphology0.61201230
98* MP0003861_abnormal_nervous_system0.59032527
99* MP0003634_abnormal_glial_cell0.58640489
100* MP0002082_postnatal_lethality0.54762818
101* MP0010770_preweaning_lethality0.54762818
102MP0002638_abnormal_pupillary_reflex0.54676078
103MP0001943_abnormal_respiration0.54086006
104MP0003137_abnormal_impulse_conducting0.53977560
105* MP0010769_abnormal_survival0.53752399
106MP0001765_abnormal_ion_homeostasis0.52899298
107MP0005367_renal/urinary_system_phenotyp0.52724618
108MP0000516_abnormal_urinary_system0.52724618
109MP0003690_abnormal_glial_cell0.52128331
110MP0006072_abnormal_retinal_apoptosis0.51291048
111* MP0003956_abnormal_body_size0.51283963
112MP0000920_abnormal_myelination0.51252243
113MP0003938_abnormal_ear_development0.51108422
114MP0001299_abnormal_eye_distance/0.48555205
115MP0002081_perinatal_lethality0.48543499
116MP0005195_abnormal_posterior_eye0.44796142

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.01748389
2Focal seizures (HP:0007359)5.98748538
3Epileptic encephalopathy (HP:0200134)5.75333189
4Myokymia (HP:0002411)5.36663487
5Febrile seizures (HP:0002373)5.31919531
6Atonic seizures (HP:0010819)5.08661889
7Hyperventilation (HP:0002883)5.03053149
8Visual hallucinations (HP:0002367)4.70336162
9Absence seizures (HP:0002121)4.52387234
10Dialeptic seizures (HP:0011146)4.31521460
11Broad-based gait (HP:0002136)4.20089913
12Progressive cerebellar ataxia (HP:0002073)4.17830581
13Generalized tonic-clonic seizures (HP:0002069)3.99747617
14Limb dystonia (HP:0002451)3.98615370
15Amblyopia (HP:0000646)3.68401339
16Poor eye contact (HP:0000817)3.57868292
17Gaze-evoked nystagmus (HP:0000640)3.49423660
18Drooling (HP:0002307)3.41278061
19Excessive salivation (HP:0003781)3.41278061
20Absent speech (HP:0001344)3.12185900
21Impaired social interactions (HP:0000735)3.10132714
22Abnormal social behavior (HP:0012433)3.10132714
23Supranuclear gaze palsy (HP:0000605)3.06160963
24Protruding tongue (HP:0010808)2.97043360
25Epileptiform EEG discharges (HP:0011182)2.95691247
26Dysdiadochokinesis (HP:0002075)2.92246304
27Dysmetria (HP:0001310)2.89323446
28Hemiparesis (HP:0001269)2.88349885
29Truncal ataxia (HP:0002078)2.87816073
30Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.85205863
31Degeneration of the lateral corticospinal tracts (HP:0002314)2.85205863
32Cerebral inclusion bodies (HP:0100314)2.84856831
33Abnormality of binocular vision (HP:0011514)2.82565446
34Diplopia (HP:0000651)2.82565446
35Action tremor (HP:0002345)2.72116034
36Impaired vibration sensation in the lower limbs (HP:0002166)2.70729746
37Abnormality of the lower motor neuron (HP:0002366)2.66219274
38EEG with generalized epileptiform discharges (HP:0011198)2.60194834
39Impaired smooth pursuit (HP:0007772)2.55920014
40Type II lissencephaly (HP:0007260)2.54472242
41Anxiety (HP:0000739)2.53033897
42Neurofibrillary tangles (HP:0002185)2.50752357
43Fair hair (HP:0002286)2.47097840
44Abnormal eating behavior (HP:0100738)2.46847974
45Genetic anticipation (HP:0003743)2.46173645
46Blue irides (HP:0000635)2.42274539
47Urinary bladder sphincter dysfunction (HP:0002839)2.40676599
48Megalencephaly (HP:0001355)2.39687545
49Scanning speech (HP:0002168)2.39159981
50Depression (HP:0000716)2.37616286
51Stereotypic behavior (HP:0000733)2.36008105
52Inability to walk (HP:0002540)2.33230034
53Hypsarrhythmia (HP:0002521)2.32977268
54Postural instability (HP:0002172)2.32812242
55Akinesia (HP:0002304)2.32169009
56Hypoventilation (HP:0002791)2.31536658
57Abnormality of salivation (HP:0100755)2.28475390
58Spastic tetraplegia (HP:0002510)2.28098329
59Status epilepticus (HP:0002133)2.26842055
60Torticollis (HP:0000473)2.26402079
61Generalized hypopigmentation of hair (HP:0011358)2.23403010
62Peripheral hypomyelination (HP:0007182)2.19995025
63Abnormality of ocular smooth pursuit (HP:0000617)2.18758325
64Cerebral hypomyelination (HP:0006808)2.16823381
65Widely spaced teeth (HP:0000687)2.16135156
66Fetal akinesia sequence (HP:0001989)2.12531191
67Thickened helices (HP:0000391)2.11192588
68Shoulder girdle muscle weakness (HP:0003547)2.11180863
69Oligodactyly (hands) (HP:0001180)2.09752805
70Bradykinesia (HP:0002067)2.09063154
71Progressive inability to walk (HP:0002505)2.08357446
72Lissencephaly (HP:0001339)2.07257824
73Exotropia (HP:0000577)2.05531113
74Morphological abnormality of the pyramidal tract (HP:0002062)2.05424894
75Gastroesophageal reflux (HP:0002020)1.99200457
76Generalized myoclonic seizures (HP:0002123)1.99193756
77Muscle hypertrophy of the lower extremities (HP:0008968)1.98243525
78Insidious onset (HP:0003587)1.96544212
79Termporal pattern (HP:0011008)1.96544212
80Dynein arm defect of respiratory motile cilia (HP:0012255)1.96515405
81Absent/shortened dynein arms (HP:0200106)1.96515405
82Esotropia (HP:0000565)1.96160664
83Abnormality of the corticospinal tract (HP:0002492)1.96122795
84Spastic gait (HP:0002064)1.95842237
85Focal dystonia (HP:0004373)1.95643592
86Polyphagia (HP:0002591)1.95389365
87Gait imbalance (HP:0002141)1.95387436
88Sleep apnea (HP:0010535)1.93559623
89Calf muscle hypertrophy (HP:0008981)1.93188226
90Mutism (HP:0002300)1.91880299
91Clumsiness (HP:0002312)1.91295935
92Vitreoretinal degeneration (HP:0000655)1.91138280
93Dysmetric saccades (HP:0000641)1.90736454
94Inappropriate behavior (HP:0000719)1.90653023
95Intellectual disability, severe (HP:0010864)1.90543959
96Prolonged QT interval (HP:0001657)1.89895310
97Urinary urgency (HP:0000012)1.89387294
98Gait ataxia (HP:0002066)1.88610930
99Hemiplegia (HP:0002301)1.88470008
100Amyotrophic lateral sclerosis (HP:0007354)1.88355751
101Optic nerve hypoplasia (HP:0000609)1.88119505
102Agitation (HP:0000713)1.85321073
103Hypoplasia of the corpus callosum (HP:0002079)1.83394887
104Impaired vibratory sensation (HP:0002495)1.82304415
105Ankle clonus (HP:0011448)1.81906739
106Papilledema (HP:0001085)1.81153943
107Specific learning disability (HP:0001328)1.81103114
108Nephrogenic diabetes insipidus (HP:0009806)1.79390173
109Psychosis (HP:0000709)1.79281158
110Congenital primary aphakia (HP:0007707)1.78576638
111Incomplete penetrance (HP:0003829)1.77429810
112Autism (HP:0000717)1.76487038
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.76049863
114Abnormal EKG (HP:0003115)1.75320876
115Medial flaring of the eyebrow (HP:0010747)1.75263602
116Syncope (HP:0001279)1.74980726
117Retinal dysplasia (HP:0007973)1.74552546
118Deeply set eye (HP:0000490)1.73432272
119Clonus (HP:0002169)1.72917873
120Aplasia/Hypoplasia of the brainstem (HP:0007362)1.71676584
121Hypoplasia of the brainstem (HP:0002365)1.71676584
122Aqueductal stenosis (HP:0002410)1.71519877
123Muscular hypotonia of the trunk (HP:0008936)1.71505596
124Split foot (HP:0001839)1.71377113
125Decreased circulating renin level (HP:0003351)1.71269359
126Delusions (HP:0000746)1.71234567
127Tetraplegia (HP:0002445)1.70100089
128Pachygyria (HP:0001302)1.70041534
129Genital tract atresia (HP:0001827)1.68208662
130Abnormality of the labia minora (HP:0012880)1.67057711
131Intention tremor (HP:0002080)1.65079573
132Lower limb muscle weakness (HP:0007340)1.64906744

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.66994348
2NTRK35.23524455
3CASK3.35175859
4RIPK43.06637984
5MAP3K42.98738395
6MAP2K72.72934297
7MAP3K92.66045716
8MARK12.50554146
9TNIK2.22173445
10MINK12.18139601
11DAPK22.03931808
12PLK22.01403960
13MAP3K121.98767950
14PNCK1.94097709
15NTRK21.82244247
16MAP2K41.81405893
17DAPK11.75467714
18SIK21.62458117
19PRPF4B1.59061388
20KSR11.59057120
21PAK61.50841256
22BMPR21.49334012
23FES1.48768880
24MAPK131.43439757
25KSR21.42120881
26CDK51.36260029
27FRK1.35165750
28CAMK2A1.33679680
29GRK51.29361053
30PRKCG1.26957367
31CAMK2B1.25250393
32PTK2B1.23735994
33MAP3K131.23070685
34CDK191.20880029
35CAMKK11.16671248
36CAMKK21.16634024
37NTRK11.15828542
38STK381.03820200
39DYRK21.01567050
40FGR0.99605755
41NME10.99428936
42ARAF0.99322535
43AKT30.98301184
44CSNK1G30.98271944
45BCR0.97299094
46MAP4K20.93821403
47PKN10.88907219
48STK160.88423495
49SGK10.86902036
50CSNK1A1L0.86803856
51CSNK1G10.84849197
52DYRK1A0.84606300
53CAMK10.84324787
54OXSR10.81284855
55SGK20.78438861
56RAF10.77443317
57SIK30.76053305
58SGK2230.75627888
59SGK4940.75627888
60CAMK40.74635392
61CAMK2D0.72691719
62MARK20.71103099
63MAP3K20.70121690
64CDK180.69552234
65PRKCE0.69078188
66PRKD30.69034173
67TYRO30.67861726
68CDK150.66327865
69FGFR20.66133518
70CDK140.63800219
71TAOK20.63203314
72UHMK10.61233708
73MAP3K60.60342101
74STK110.59160417
75CAMK1G0.58754887
76ERBB30.56861863
77CDK11A0.56772456
78MKNK20.56027922
79FER0.54415770
80CSNK1G20.54405647
81PHKG20.53431212
82PHKG10.53431212
83GRK70.52089680
84PINK10.51368848
85PAK30.49972878
86CSNK1D0.48936483
87CDK30.48651159
88CCNB10.48562609
89CAMK2G0.47550481
90MUSK0.47126359
91TNK20.46279006
92MAP3K70.45699801
93SGK30.43250030
94WNK30.43081050
95RPS6KA30.42888511
96MAP2K10.42704564
97NEK60.41094499
98PDPK10.41094305
99GRK60.40787850
100INSRR0.40559941
101BRAF0.40234594
102PRKCZ0.39787684
103CSNK1A10.39572445
104RET0.39529590
105CSNK1E0.39307850
106FYN0.38773810
107MAPK100.38762667
108ROCK20.38310631
109DMPK0.37778608
110MAP2K60.37373939
111PRKG10.37180098
112LATS20.37123222
113PRKACA0.36576991
114PRKCH0.36123107
115ROCK10.35983717
116PDK10.35510134
117TRIM280.34691079
118STK390.34462498
119MAPK120.34417543
120CDC42BPA0.32951120
121* PRKCB0.32458550
122* PRKCA0.31791033
123PRKACB0.29331484
124GSK3B0.29076576
125WNK10.27108228

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.67445677
2* Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.06721862
3* Long-term potentiation_Homo sapiens_hsa047202.99894549
4* Glutamatergic synapse_Homo sapiens_hsa047242.96300693
5Synaptic vesicle cycle_Homo sapiens_hsa047212.93425377
6* Circadian entrainment_Homo sapiens_hsa047132.83140241
7GABAergic synapse_Homo sapiens_hsa047272.82817305
8Morphine addiction_Homo sapiens_hsa050322.76123487
9* Amphetamine addiction_Homo sapiens_hsa050312.61969997
10Olfactory transduction_Homo sapiens_hsa047402.45115193
11Salivary secretion_Homo sapiens_hsa049702.34550038
12Taste transduction_Homo sapiens_hsa047422.24744350
13* Dopaminergic synapse_Homo sapiens_hsa047282.13883746
14Renin secretion_Homo sapiens_hsa049241.97454035
15Serotonergic synapse_Homo sapiens_hsa047261.96490078
16Calcium signaling pathway_Homo sapiens_hsa040201.94027326
17Insulin secretion_Homo sapiens_hsa049111.89618621
18Collecting duct acid secretion_Homo sapiens_hsa049661.85896285
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.85559255
20* Long-term depression_Homo sapiens_hsa047301.80793093
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75762157
22Cholinergic synapse_Homo sapiens_hsa047251.75649127
23Gastric acid secretion_Homo sapiens_hsa049711.74402812
24Oxytocin signaling pathway_Homo sapiens_hsa049211.74268687
25* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.49831532
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.46988119
27GnRH signaling pathway_Homo sapiens_hsa049121.41183941
28Axon guidance_Homo sapiens_hsa043601.38982399
29* Cocaine addiction_Homo sapiens_hsa050301.34229248
30Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.32820524
31* cAMP signaling pathway_Homo sapiens_hsa040241.29787352
32Vibrio cholerae infection_Homo sapiens_hsa051101.24591976
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24499855
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23998468
35Gap junction_Homo sapiens_hsa045401.23765003
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21736147
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15331367
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.11360357
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09632527
40Cardiac muscle contraction_Homo sapiens_hsa042601.05961081
41Phototransduction_Homo sapiens_hsa047441.02411206
42Type II diabetes mellitus_Homo sapiens_hsa049301.01404371
43Estrogen signaling pathway_Homo sapiens_hsa049151.00309039
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.97314159
45Melanogenesis_Homo sapiens_hsa049160.96106161
46Pancreatic secretion_Homo sapiens_hsa049720.94793732
47Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.92293479
48ErbB signaling pathway_Homo sapiens_hsa040120.92135012
49Glioma_Homo sapiens_hsa052140.90771202
50* Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85001873
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.82188640
52Butanoate metabolism_Homo sapiens_hsa006500.79815806
53Oocyte meiosis_Homo sapiens_hsa041140.79369719
54Choline metabolism in cancer_Homo sapiens_hsa052310.78817267
55Alzheimers disease_Homo sapiens_hsa050100.76022884
56Dilated cardiomyopathy_Homo sapiens_hsa054140.72142775
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.70543789
58MAPK signaling pathway_Homo sapiens_hsa040100.70016400
59African trypanosomiasis_Homo sapiens_hsa051430.65293715
60Dorso-ventral axis formation_Homo sapiens_hsa043200.65062003
61Thyroid hormone synthesis_Homo sapiens_hsa049180.63617841
62Ether lipid metabolism_Homo sapiens_hsa005650.63331321
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59570234
64Nitrogen metabolism_Homo sapiens_hsa009100.59529676
65Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59253737
66Oxidative phosphorylation_Homo sapiens_hsa001900.57728249
67Glucagon signaling pathway_Homo sapiens_hsa049220.57444035
68Circadian rhythm_Homo sapiens_hsa047100.57185815
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56358908
70Ras signaling pathway_Homo sapiens_hsa040140.55653111
71VEGF signaling pathway_Homo sapiens_hsa043700.55311671
72Fatty acid biosynthesis_Homo sapiens_hsa000610.54267212
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53430132
74Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52415926
75Rap1 signaling pathway_Homo sapiens_hsa040150.50806704
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50347803
77Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49442993
78Inositol phosphate metabolism_Homo sapiens_hsa005620.48909546
79Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48536288
80Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45775418
81Wnt signaling pathway_Homo sapiens_hsa043100.43785056
82Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43150706
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40264538
84Alcoholism_Homo sapiens_hsa050340.38088731
85Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.37544513
86Type I diabetes mellitus_Homo sapiens_hsa049400.37390396
87Vitamin B6 metabolism_Homo sapiens_hsa007500.36418271
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34949284
89Rheumatoid arthritis_Homo sapiens_hsa053230.34337668
90beta-Alanine metabolism_Homo sapiens_hsa004100.33472169
91Ovarian steroidogenesis_Homo sapiens_hsa049130.33331785
92Sphingolipid signaling pathway_Homo sapiens_hsa040710.33113258
93Prion diseases_Homo sapiens_hsa050200.32339940
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31730294
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.31594873
96Mineral absorption_Homo sapiens_hsa049780.30122113
97Regulation of autophagy_Homo sapiens_hsa041400.29387490
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29224243
99Bile secretion_Homo sapiens_hsa049760.28320635
100Histidine metabolism_Homo sapiens_hsa003400.27926334
101Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26431315
102Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25326236
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25199857
104mTOR signaling pathway_Homo sapiens_hsa041500.24524685
105Endometrial cancer_Homo sapiens_hsa052130.24075202
106AMPK signaling pathway_Homo sapiens_hsa041520.23774234
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.23733537
108Huntingtons disease_Homo sapiens_hsa050160.22608004
109Tight junction_Homo sapiens_hsa045300.22246033
110Parkinsons disease_Homo sapiens_hsa050120.19565052
111Arginine biosynthesis_Homo sapiens_hsa002200.17552126
112Insulin signaling pathway_Homo sapiens_hsa049100.17144425
113Non-small cell lung cancer_Homo sapiens_hsa052230.16766705
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.16409046

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