GABRB2

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 gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.07537547
2vocalization behavior (GO:0071625)5.98414961
3locomotory exploration behavior (GO:0035641)5.91172194
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.86341943
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.71705106
6synaptic vesicle exocytosis (GO:0016079)5.38462653
7ionotropic glutamate receptor signaling pathway (GO:0035235)5.30093435
8regulation of glutamate receptor signaling pathway (GO:1900449)5.29764769
9synaptic vesicle maturation (GO:0016188)5.23925056
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.08449284
11glutamate secretion (GO:0014047)5.08175976
12neuron cell-cell adhesion (GO:0007158)5.07779476
13neuronal action potential propagation (GO:0019227)5.03560682
14protein localization to synapse (GO:0035418)4.99079089
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.94581323
16L-amino acid import (GO:0043092)4.93167270
17regulation of synaptic vesicle exocytosis (GO:2000300)4.92636891
18glutamate receptor signaling pathway (GO:0007215)4.90083454
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.78728449
20exploration behavior (GO:0035640)4.72356314
21synaptic transmission, glutamatergic (GO:0035249)4.68725054
22neurotransmitter-gated ion channel clustering (GO:0072578)4.52546023
23neurotransmitter secretion (GO:0007269)4.45927192
24* neuron-neuron synaptic transmission (GO:0007270)4.44871657
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.38654539
26regulation of synaptic vesicle transport (GO:1902803)4.36876127
27gamma-aminobutyric acid transport (GO:0015812)4.35939168
28amino acid import (GO:0043090)4.35938528
29regulation of neuronal synaptic plasticity (GO:0048168)4.24333031
30long-term memory (GO:0007616)4.19135561
31regulation of excitatory postsynaptic membrane potential (GO:0060079)4.11858828
32potassium ion homeostasis (GO:0055075)4.11110069
33G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.10615876
34* gamma-aminobutyric acid signaling pathway (GO:0007214)4.03995271
35positive regulation of synapse maturation (GO:0090129)4.03895924
36potassium ion import (GO:0010107)3.96476202
37regulation of synapse structural plasticity (GO:0051823)3.95862409
38positive regulation of membrane potential (GO:0045838)3.95727606
39cerebellar granule cell differentiation (GO:0021707)3.94205847
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.93942683
41regulation of postsynaptic membrane potential (GO:0060078)3.93769428
42cellular sodium ion homeostasis (GO:0006883)3.88721100
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.87351691
44dendritic spine morphogenesis (GO:0060997)3.83565530
45postsynaptic membrane organization (GO:0001941)3.82861648
46neuronal ion channel clustering (GO:0045161)3.82847576
47cerebellar Purkinje cell differentiation (GO:0021702)3.82021616
48cellular potassium ion homeostasis (GO:0030007)3.81983204
49axon ensheathment in central nervous system (GO:0032291)3.81704160
50central nervous system myelination (GO:0022010)3.81704160
51long-term synaptic potentiation (GO:0060291)3.81589416
52cell communication by electrical coupling (GO:0010644)3.80915896
53negative regulation of synaptic transmission, GABAergic (GO:0032229)3.80422857
54proline transport (GO:0015824)3.80203321
55layer formation in cerebral cortex (GO:0021819)3.80032738
56regulation of voltage-gated calcium channel activity (GO:1901385)3.78680729
57presynaptic membrane assembly (GO:0097105)3.77955094
58regulation of synaptic transmission, glutamatergic (GO:0051966)3.77265450
59positive regulation of dendritic spine development (GO:0060999)3.75464759
60neuron recognition (GO:0008038)3.75177605
61regulation of synaptic plasticity (GO:0048167)3.67186550
62neurotransmitter transport (GO:0006836)3.63662785
63transmission of nerve impulse (GO:0019226)3.63341430
64negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.59913023
65negative regulation of dendrite morphogenesis (GO:0050774)3.59415100
66positive regulation of dendritic spine morphogenesis (GO:0061003)3.57952089
67presynaptic membrane organization (GO:0097090)3.56458313
68synaptic vesicle endocytosis (GO:0048488)3.49013467
69regulation of dendritic spine morphogenesis (GO:0061001)3.48968267
70regulation of neurotransmitter secretion (GO:0046928)3.44984171
71axonal fasciculation (GO:0007413)3.42064562
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.41307405
73neurotransmitter uptake (GO:0001504)3.37779128
74positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.37406962
75membrane depolarization (GO:0051899)3.37235822
76regulation of neurotransmitter levels (GO:0001505)3.35861793
77serotonin metabolic process (GO:0042428)3.35730186
78neuromuscular process controlling posture (GO:0050884)3.34667133
79positive regulation of neurotransmitter secretion (GO:0001956)3.33912490
80membrane hyperpolarization (GO:0060081)3.33148169
81behavioral defense response (GO:0002209)3.32339939
82behavioral fear response (GO:0001662)3.32339939
83auditory behavior (GO:0031223)3.32245373
84activation of protein kinase A activity (GO:0034199)3.31327650
85sodium ion export (GO:0071436)3.29808422
86regulation of ARF protein signal transduction (GO:0032012)3.29767127
87neuromuscular process controlling balance (GO:0050885)3.29371399
88acidic amino acid transport (GO:0015800)3.28612396
89regulation of synapse maturation (GO:0090128)3.22675243
90membrane depolarization during action potential (GO:0086010)3.22584220
91learning (GO:0007612)3.22297453
92startle response (GO:0001964)3.19525549
93regulation of vesicle fusion (GO:0031338)3.17441671
94cell communication involved in cardiac conduction (GO:0086065)3.17094566
95synapse assembly (GO:0007416)3.16657996
96regulation of neurotransmitter transport (GO:0051588)3.15105388
97fear response (GO:0042596)3.14005190
98regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.13185717
99positive regulation of neurotransmitter transport (GO:0051590)3.12852836
100positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12662524
101* synaptic transmission (GO:0007268)3.12602408
102response to auditory stimulus (GO:0010996)3.12472384
103detection of calcium ion (GO:0005513)3.12300486
104regulation of synaptic transmission (GO:0050804)3.10729160
105dendrite morphogenesis (GO:0048813)3.10520783
106establishment of synaptic vesicle localization (GO:0097480)3.10295606
107synaptic vesicle transport (GO:0048489)3.10295606
108behavioral response to cocaine (GO:0048148)3.10143596
109cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.09665850
110positive regulation of synaptic transmission (GO:0050806)3.09399221
111regulation of dendritic spine development (GO:0060998)3.05462978
112regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.04293553
113C4-dicarboxylate transport (GO:0015740)3.04264910
114neuromuscular synaptic transmission (GO:0007274)3.03485906
115long term synaptic depression (GO:0060292)3.01990192
116mechanosensory behavior (GO:0007638)3.00964634
117positive regulation of synapse assembly (GO:0051965)3.00937140
118regulation of cell communication by electrical coupling (GO:0010649)3.00327859
119social behavior (GO:0035176)2.99991501
120intraspecies interaction between organisms (GO:0051703)2.99991501
121neuromuscular process (GO:0050905)2.99965034
122prepulse inhibition (GO:0060134)2.99031971
123adult walking behavior (GO:0007628)2.96633463
124* response to histamine (GO:0034776)2.96391264
125cell differentiation in hindbrain (GO:0021533)2.95477398

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.38315332
2GBX2_23144817_ChIP-Seq_PC3_Human4.00108739
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.19108275
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.16312916
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.14660335
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73797277
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73797277
8REST_21632747_ChIP-Seq_MESCs_Mouse2.73130469
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67792804
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63500731
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53385850
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.53083245
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49165559
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49144584
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43701664
16DROSHA_22980978_ChIP-Seq_HELA_Human2.41280054
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.40943578
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.37629725
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20815191
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.20613720
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.17556580
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.15135733
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.14875562
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.05724317
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05330861
26CTBP2_25329375_ChIP-Seq_LNCAP_Human2.04455477
27TAF15_26573619_Chip-Seq_HEK293_Human2.00398542
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95731348
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91090493
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89547001
31SMAD4_21799915_ChIP-Seq_A2780_Human1.79541470
32* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78577216
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.77785951
34AR_21572438_ChIP-Seq_LNCaP_Human1.75226998
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.71963885
36* P300_19829295_ChIP-Seq_ESCs_Human1.55251208
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55166842
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54691265
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51930044
40ZNF274_21170338_ChIP-Seq_K562_Hela1.49836778
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.47316091
42THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.46072732
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.42618178
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41525831
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41509959
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.40545916
47TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38445849
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.37696477
49AR_25329375_ChIP-Seq_VCAP_Human1.35781643
50SMAD_19615063_ChIP-ChIP_OVARY_Human1.34909982
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33124698
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31886007
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28946142
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28867659
55* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28186128
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.28059619
57POU3F2_20337985_ChIP-ChIP_501MEL_Human1.27665298
58RING1B_27294783_Chip-Seq_ESCs_Mouse1.26569993
59STAT3_23295773_ChIP-Seq_U87_Human1.26073855
60FUS_26573619_Chip-Seq_HEK293_Human1.24255759
61AR_19668381_ChIP-Seq_PC3_Human1.21887473
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21360252
63TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19664500
64RNF2_27304074_Chip-Seq_NSC_Mouse1.19503080
65IGF1R_20145208_ChIP-Seq_DFB_Human1.17213244
66* TCF4_23295773_ChIP-Seq_U87_Human1.15984531
67RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15752384
68CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13643938
69ARNT_22903824_ChIP-Seq_MCF-7_Human1.11821475
70P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11452286
71* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07416167
72* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06216878
73RUNX2_22187159_ChIP-Seq_PCA_Human1.06189093
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05698518
75SMAD3_21741376_ChIP-Seq_HESCs_Human1.05580980
76MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04584234
77VDR_22108803_ChIP-Seq_LS180_Human1.04366629
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.04123486
79AHR_22903824_ChIP-Seq_MCF-7_Human1.04059516
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04047827
81RING1B_27294783_Chip-Seq_NPCs_Mouse1.03651816
82TP53_16413492_ChIP-PET_HCT116_Human1.02814000
83WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02770353
84KDM2B_26808549_Chip-Seq_K562_Human1.02571049
85LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01499252
86ER_23166858_ChIP-Seq_MCF-7_Human1.00958129
87* PRDM14_20953172_ChIP-Seq_ESCs_Human1.00547479
88GATA1_26923725_Chip-Seq_HPCs_Mouse1.00312715
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00309842
90CDX2_19796622_ChIP-Seq_MESCs_Mouse0.99288736
91* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98294509
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98157270
93POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.97524027
94TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97524027
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.96557774
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.96293167
97NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95994419
98NANOG_18555785_Chip-Seq_ESCs_Mouse0.94562360
99* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93797469
100TP53_18474530_ChIP-ChIP_U2OS_Human0.93421353
101JUN_21703547_ChIP-Seq_K562_Human0.93337039
102ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92589442
103SMAD3_21741376_ChIP-Seq_ESCs_Human0.92196017
104KDM2B_26808549_Chip-Seq_REH_Human0.91987297
105BCAT_22108803_ChIP-Seq_LS180_Human0.91369304
106BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.91039005
107PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91029073
108WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90854187
109MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89787315
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89129499
111CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88549871
112RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87981430
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86967725
114TET1_21490601_ChIP-Seq_MESCs_Mouse0.85991670
115RXR_22108803_ChIP-Seq_LS180_Human0.85972011
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85522338
117* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85483232
118* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.83851888

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.43016861
2MP0003880_abnormal_central_pattern5.19682957
3* MP0003635_abnormal_synaptic_transmissio4.28034750
4MP0009745_abnormal_behavioral_response3.69030921
5MP0009046_muscle_twitch3.62446316
6MP0004270_analgesia3.50759603
7MP0002063_abnormal_learning/memory/cond3.43375856
8MP0002064_seizures3.37764043
9MP0001968_abnormal_touch/_nociception3.14217651
10MP0002572_abnormal_emotion/affect_behav2.99898068
11MP0005423_abnormal_somatic_nervous2.78799488
12MP0002272_abnormal_nervous_system2.77615059
13MP0001486_abnormal_startle_reflex2.65818776
14MP0002734_abnormal_mechanical_nocicepti2.61636047
15MP0002822_catalepsy2.57223893
16MP0001501_abnormal_sleep_pattern2.52507258
17MP0002736_abnormal_nociception_after2.49755298
18MP0002735_abnormal_chemical_nociception2.32065395
19MP0001440_abnormal_grooming_behavior2.26757377
20MP0002067_abnormal_sensory_capabilities2.18313393
21MP0008569_lethality_at_weaning2.00221344
22MP0002733_abnormal_thermal_nociception1.93616563
23MP0001970_abnormal_pain_threshold1.88307956
24* MP0002184_abnormal_innervation1.86804497
25MP0005386_behavior/neurological_phenoty1.83551710
26MP0004924_abnormal_behavior1.83551710
27MP0002557_abnormal_social/conspecific_i1.81341022
28MP0009780_abnormal_chondrocyte_physiolo1.79013953
29MP0003879_abnormal_hair_cell1.78254743
30MP0003329_amyloid_beta_deposits1.77750327
31MP0000778_abnormal_nervous_system1.76709724
32MP0005646_abnormal_pituitary_gland1.67861885
33MP0004811_abnormal_neuron_physiology1.67181034
34MP0006276_abnormal_autonomic_nervous1.59567055
35MP0001984_abnormal_olfaction1.57735442
36MP0000955_abnormal_spinal_cord1.48165501
37MP0003787_abnormal_imprinting1.45862852
38MP0002909_abnormal_adrenal_gland1.45290040
39* MP0002066_abnormal_motor_capabilities/c1.44350654
40MP0004142_abnormal_muscle_tone1.43353130
41MP0004858_abnormal_nervous_system1.42921375
42MP0001529_abnormal_vocalization1.40944186
43* MP0002882_abnormal_neuron_morphology1.36763077
44MP0004885_abnormal_endolymph1.33652243
45MP0003633_abnormal_nervous_system1.29637930
46MP0001188_hyperpigmentation1.29534198
47MP0005645_abnormal_hypothalamus_physiol1.29532284
48MP0001502_abnormal_circadian_rhythm1.28798064
49MP0001905_abnormal_dopamine_level1.25608816
50MP0004147_increased_porphyrin_level1.25582755
51MP0003123_paternal_imprinting1.25088754
52MP0003122_maternal_imprinting1.16467964
53MP0003631_nervous_system_phenotype1.15028514
54MP0004145_abnormal_muscle_electrophysio1.12321791
55MP0002152_abnormal_brain_morphology1.11316060
56MP0004742_abnormal_vestibular_system1.11056229
57MP0000569_abnormal_digit_pigmentation1.10967000
58MP0008872_abnormal_physiological_respon1.02496875
59MP0005551_abnormal_eye_electrophysiolog0.97555168
60MP0002837_dystrophic_cardiac_calcinosis0.93595161
61MP0000751_myopathy0.93173506
62MP0008874_decreased_physiological_sensi0.91821023
63MP0002069_abnormal_eating/drinking_beha0.91367442
64MP0004510_myositis0.90494545
65* MP0002229_neurodegeneration0.90377949
66MP0003632_abnormal_nervous_system0.89243615
67MP0010386_abnormal_urinary_bladder0.89031278
68MP0004085_abnormal_heartbeat0.89023272
69MP0001177_atelectasis0.84352303
70MP0001348_abnormal_lacrimal_gland0.84208443
71MP0004215_abnormal_myocardial_fiber0.81584915
72* MP0001963_abnormal_hearing_physiology0.80993693
73MP0000013_abnormal_adipose_tissue0.80153593
74MP0000604_amyloidosis0.78377648
75MP0002876_abnormal_thyroid_physiology0.77284809
76MP0001485_abnormal_pinna_reflex0.76679325
77MP0004484_altered_response_of0.75999990
78MP0005535_abnormal_body_temperature0.75615467
79MP0005394_taste/olfaction_phenotype0.75473285
80MP0005499_abnormal_olfactory_system0.75473285
81MP0008877_abnormal_DNA_methylation0.74995590
82MP0003634_abnormal_glial_cell0.74535757
83MP0000631_abnormal_neuroendocrine_gland0.74356649
84MP0003690_abnormal_glial_cell0.74122992
85* MP0002752_abnormal_somatic_nervous0.71903860
86MP0001346_abnormal_lacrimal_gland0.69501597
87MP0000920_abnormal_myelination0.68099247
88MP0001986_abnormal_taste_sensitivity0.68012391
89MP0003137_abnormal_impulse_conducting0.67993634
90MP0002090_abnormal_vision0.64914849
91MP0004233_abnormal_muscle_weight0.64161293
92MP0001664_abnormal_digestion0.63600634
93MP0005409_darkened_coat_color0.61830157
94MP0003075_altered_response_to0.61561801
95MP0005171_absent_coat_pigmentation0.61227911
96MP0005167_abnormal_blood-brain_barrier0.57740262
97MP0003121_genomic_imprinting0.56535942
98MP0004043_abnormal_pH_regulation0.56354344
99MP0001943_abnormal_respiration0.55743846
100MP0003283_abnormal_digestive_organ0.55279020
101MP0002638_abnormal_pupillary_reflex0.55149901
102MP0010769_abnormal_survival0.54854135
103MP0002082_postnatal_lethality0.54043915
104MP0010770_preweaning_lethality0.54043915
105MP0003646_muscle_fatigue0.52652930
106MP0010768_mortality/aging0.51869333
107MP0003861_abnormal_nervous_system0.51637259
108MP0004130_abnormal_muscle_cell0.50187521
109MP0003956_abnormal_body_size0.49716021
110MP0008961_abnormal_basal_metabolism0.49066201
111MP0005623_abnormal_meninges_morphology0.48920690
112MP0001299_abnormal_eye_distance/0.48191221
113MP0000639_abnormal_adrenal_gland0.46585037
114* MP0000026_abnormal_inner_ear0.44952504

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.08641195
2Myokymia (HP:0002411)6.40256005
3Focal seizures (HP:0007359)6.30318464
4Atonic seizures (HP:0010819)5.70143060
5Epileptic encephalopathy (HP:0200134)5.37346898
6Visual hallucinations (HP:0002367)5.28748041
7Febrile seizures (HP:0002373)5.20369601
8Absence seizures (HP:0002121)4.82796287
9Progressive cerebellar ataxia (HP:0002073)4.70980091
10Dialeptic seizures (HP:0011146)4.43627576
11Hyperventilation (HP:0002883)4.23412053
12Broad-based gait (HP:0002136)4.21032709
13Generalized tonic-clonic seizures (HP:0002069)4.14993637
14Action tremor (HP:0002345)4.13870600
15Gaze-evoked nystagmus (HP:0000640)4.01261267
16Poor eye contact (HP:0000817)3.60593946
17Dysdiadochokinesis (HP:0002075)3.53705887
18Truncal ataxia (HP:0002078)3.36714031
19Impaired social interactions (HP:0000735)3.27004218
20Abnormal social behavior (HP:0012433)3.27004218
21Dysmetria (HP:0001310)3.17540907
22Impaired vibration sensation in the lower limbs (HP:0002166)3.12451956
23Obstructive sleep apnea (HP:0002870)3.06877290
24Cerebral hypomyelination (HP:0006808)3.06551268
25Scanning speech (HP:0002168)3.05565162
26Impaired smooth pursuit (HP:0007772)3.05352465
27Supranuclear gaze palsy (HP:0000605)3.02171253
28Depression (HP:0000716)3.01181075
29Abnormal eating behavior (HP:0100738)2.99206586
30Drooling (HP:0002307)2.98370910
31Excessive salivation (HP:0003781)2.98370910
32Dysmetric saccades (HP:0000641)2.96985737
33Amblyopia (HP:0000646)2.95824805
34Anxiety (HP:0000739)2.93773793
35Diplopia (HP:0000651)2.92561821
36Abnormality of binocular vision (HP:0011514)2.92561821
37Tetraplegia (HP:0002445)2.89628375
38Hemiparesis (HP:0001269)2.88504818
39Mutism (HP:0002300)2.88067094
40Urinary bladder sphincter dysfunction (HP:0002839)2.84705461
41Progressive inability to walk (HP:0002505)2.84353660
42Ankle clonus (HP:0011448)2.80611666
43Postural instability (HP:0002172)2.76112861
44Epileptiform EEG discharges (HP:0011182)2.72969981
45Abnormality of ocular smooth pursuit (HP:0000617)2.71202400
46Hemiplegia (HP:0002301)2.66487479
47Fetal akinesia sequence (HP:0001989)2.63443030
48Abnormality of the lower motor neuron (HP:0002366)2.62988738
49Genetic anticipation (HP:0003743)2.61562583
50Status epilepticus (HP:0002133)2.58511833
51Stereotypic behavior (HP:0000733)2.56926180
52Inability to walk (HP:0002540)2.54376269
53Absent speech (HP:0001344)2.53760303
54Intention tremor (HP:0002080)2.52840087
55EEG with generalized epileptiform discharges (HP:0011198)2.51710157
56Spastic gait (HP:0002064)2.39619831
57Sleep apnea (HP:0010535)2.37611592
58Degeneration of the lateral corticospinal tracts (HP:0002314)2.36854546
59Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.36854546
60Cerebral inclusion bodies (HP:0100314)2.36697824
61Bradykinesia (HP:0002067)2.36112540
62Hypsarrhythmia (HP:0002521)2.35576362
63Abnormality of the corticospinal tract (HP:0002492)2.34518548
64Papilledema (HP:0001085)2.34276054
65Urinary urgency (HP:0000012)2.32824665
66Torticollis (HP:0000473)2.31566797
67Generalized myoclonic seizures (HP:0002123)2.30687377
68Clonus (HP:0002169)2.25840051
69Neurofibrillary tangles (HP:0002185)2.25538919
70Focal dystonia (HP:0004373)2.23050897
71Protruding tongue (HP:0010808)2.22384168
72Impaired vibratory sensation (HP:0002495)2.21903565
73Polyphagia (HP:0002591)2.19813175
74Insidious onset (HP:0003587)2.14921187
75Termporal pattern (HP:0011008)2.14921187
76Blue irides (HP:0000635)2.12082819
77Peripheral hypomyelination (HP:0007182)2.09971328
78Pheochromocytoma (HP:0002666)2.08943368
79Rigidity (HP:0002063)2.08276749
80Spastic tetraparesis (HP:0001285)2.06761847
81Amyotrophic lateral sclerosis (HP:0007354)2.06705507
82Apathy (HP:0000741)2.03797671
83Gait ataxia (HP:0002066)2.03680526
84Incomplete penetrance (HP:0003829)2.03622561
85Morphological abnormality of the pyramidal tract (HP:0002062)2.03244452
86Annular pancreas (HP:0001734)2.02637036
87CNS hypomyelination (HP:0003429)2.01450468
88Choreoathetosis (HP:0001266)2.00673091
89Abnormality of macular pigmentation (HP:0008002)1.99885681
90Abnormality of salivation (HP:0100755)1.99342672
91Lower limb muscle weakness (HP:0007340)1.94372409
92Limb dystonia (HP:0002451)1.94312255
93Abnormality of saccadic eye movements (HP:0000570)1.93441138
94Craniofacial dystonia (HP:0012179)1.93001267
95Agitation (HP:0000713)1.91290934
96Ventricular fibrillation (HP:0001663)1.91245984
97Inappropriate behavior (HP:0000719)1.91043868
98Increased circulating renin level (HP:0000848)1.89242503
99Memory impairment (HP:0002354)1.87987685
100Gait imbalance (HP:0002141)1.87303721
101Dynein arm defect of respiratory motile cilia (HP:0012255)1.83581013
102Absent/shortened dynein arms (HP:0200106)1.83581013
103Psychosis (HP:0000709)1.83264252
104Split foot (HP:0001839)1.83174132
105Rapidly progressive (HP:0003678)1.83046190
106Neuroendocrine neoplasm (HP:0100634)1.80676163
107Lower limb asymmetry (HP:0100559)1.80439935
108Postural tremor (HP:0002174)1.80235890
109Neuronal loss in central nervous system (HP:0002529)1.79767515
110Diminished motivation (HP:0000745)1.79498503
111Bundle branch block (HP:0011710)1.79320870
112Megalencephaly (HP:0001355)1.77710282
113Horizontal nystagmus (HP:0000666)1.77186749
114Akinesia (HP:0002304)1.77147457
115Resting tremor (HP:0002322)1.77002364
116Spinal canal stenosis (HP:0003416)1.75636388
117Generalized hypopigmentation of hair (HP:0011358)1.75054109
118Specific learning disability (HP:0001328)1.74394029
119Autoamputation (HP:0001218)1.73543855
120Pointed chin (HP:0000307)1.73333655
121Widely spaced teeth (HP:0000687)1.66196937
122Delusions (HP:0000746)1.65353240
123Limb ataxia (HP:0002070)1.65073170

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.71036145
2EPHA44.44950803
3MAP3K93.42739218
4MAP3K43.24570482
5MARK13.19801522
6MAP2K72.90889827
7CASK2.83975142
8DAPK22.53639086
9MINK12.43922691
10MAP3K122.27359754
11NTRK22.26032721
12MAP2K42.04795385
13RIPK42.03396395
14TNIK2.01416988
15PAK61.94039004
16CDK191.84639154
17DAPK11.77996680
18PLK21.69012593
19CAMKK11.65577052
20MAPK131.57084914
21PRPF4B1.56672900
22CAMKK21.50908367
23NTRK11.50024349
24KSR21.49923646
25CDK51.49476960
26SIK21.46070292
27KSR11.44550318
28GRK51.33676617
29STK381.33143239
30PNCK1.30621484
31PRKCG1.27744806
32PRKD31.26936498
33FES1.20640809
34RIPK11.11587778
35CAMK2A1.08912992
36OXSR11.08336629
37CAMK2B0.99063368
38ARAF0.98688680
39CAMK10.94534146
40SGK4940.94054275
41SGK2230.94054275
42SGK20.92498167
43ICK0.91137286
44UHMK10.90506061
45CCNB10.87473026
46CDK180.87223118
47PTK2B0.86516706
48PHKG20.85324279
49PHKG10.85324279
50MAP3K130.84928809
51CDK150.84843940
52BMPR20.83268979
53STK110.83246681
54TYRO30.81201041
55CDK140.79864997
56MAP3K20.79434943
57SGK10.76361820
58AKT30.75586736
59DYRK1A0.73100182
60CDK11A0.72708904
61PRKCH0.72444385
62LATS20.72373833
63MARK20.71233860
64SIK30.70771691
65SGK30.68339526
66CSNK1G20.64815169
67PKN10.63557295
68CSNK1A1L0.63334525
69RAF10.62934366
70TNK20.62262578
71TAOK10.62070897
72PAK30.58367555
73PRKCE0.58063885
74FGR0.57860343
75RET0.57019352
76PINK10.57001099
77NME10.56607407
78ALK0.55585274
79WNK30.54435348
80WNK10.54293430
81PDK10.53803365
82CAMK2D0.51694802
83CAMK40.51161545
84PDPK10.50374384
85NEK60.48428685
86CAMK2G0.47568510
87* RPS6KA30.47250117
88FYN0.46814392
89FER0.45678655
90PRKCZ0.45621075
91MAPK120.43935370
92MAP3K60.43092343
93CDC42BPA0.40196066
94CAMK1G0.39098647
95* PRKCA0.38576875
96MUSK0.37594114
97MAPK100.35814570
98DAPK30.35574190
99STK390.35513321
100ERBB30.35499791
101MAP3K70.35434335
102PRKG10.35054995
103SCYL20.34434089
104ROCK20.34342404
105BRSK10.33602647
106LMTK20.33015634
107MAP2K60.32874125
108BRAF0.32809189
109CSNK1D0.32389384
110FGFR20.32118168
111PRKACA0.31884759
112ERBB20.31627540
113CSNK1E0.29956258
114MAP3K110.28854107
115MAP2K10.28792880
116MAPK80.27557219
117* PRKCB0.27400260

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.35942873
2Synaptic vesicle cycle_Homo sapiens_hsa047213.35352286
3* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.92730195
4Long-term potentiation_Homo sapiens_hsa047202.83691151
5Circadian entrainment_Homo sapiens_hsa047132.82812677
6* GABAergic synapse_Homo sapiens_hsa047272.79589048
7Glutamatergic synapse_Homo sapiens_hsa047242.76067372
8Olfactory transduction_Homo sapiens_hsa047402.64160723
9* Morphine addiction_Homo sapiens_hsa050322.60810983
10Amphetamine addiction_Homo sapiens_hsa050312.50491970
11Salivary secretion_Homo sapiens_hsa049702.32854974
12Dopaminergic synapse_Homo sapiens_hsa047282.15457251
13Taste transduction_Homo sapiens_hsa047422.09255180
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02937404
15Insulin secretion_Homo sapiens_hsa049111.95214850
16Long-term depression_Homo sapiens_hsa047301.91195466
17Gastric acid secretion_Homo sapiens_hsa049711.88787860
18Cholinergic synapse_Homo sapiens_hsa047251.83923553
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.82410397
20Collecting duct acid secretion_Homo sapiens_hsa049661.80517826
21Renin secretion_Homo sapiens_hsa049241.79343120
22Calcium signaling pathway_Homo sapiens_hsa040201.71802144
23Oxytocin signaling pathway_Homo sapiens_hsa049211.67776903
24* Serotonergic synapse_Homo sapiens_hsa047261.66495003
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62332587
26Cocaine addiction_Homo sapiens_hsa050301.52655023
27GnRH signaling pathway_Homo sapiens_hsa049121.36975150
28Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29861264
29Gap junction_Homo sapiens_hsa045401.29368092
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28432015
31cAMP signaling pathway_Homo sapiens_hsa040241.27662159
32* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.22354755
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17482243
34Cardiac muscle contraction_Homo sapiens_hsa042601.16695000
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.16004947
36Type II diabetes mellitus_Homo sapiens_hsa049301.15999087
37Estrogen signaling pathway_Homo sapiens_hsa049151.15919826
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15289636
39Axon guidance_Homo sapiens_hsa043601.11786197
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11023669
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05651802
42Vibrio cholerae infection_Homo sapiens_hsa051101.04548106
43Glioma_Homo sapiens_hsa052140.97197440
44Vitamin B6 metabolism_Homo sapiens_hsa007500.94856538
45Melanogenesis_Homo sapiens_hsa049160.94494963
46ErbB signaling pathway_Homo sapiens_hsa040120.94245978
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.93341331
48Pancreatic secretion_Homo sapiens_hsa049720.91664734
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87958604
50Phototransduction_Homo sapiens_hsa047440.86815114
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.86778989
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.83033392
53Oocyte meiosis_Homo sapiens_hsa041140.79154636
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77678251
55Thyroid hormone synthesis_Homo sapiens_hsa049180.76409561
56Dilated cardiomyopathy_Homo sapiens_hsa054140.74564053
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.73296106
58Alzheimers disease_Homo sapiens_hsa050100.70329221
59MAPK signaling pathway_Homo sapiens_hsa040100.67675027
60Dorso-ventral axis formation_Homo sapiens_hsa043200.64220843
61Choline metabolism in cancer_Homo sapiens_hsa052310.62211383
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61263965
63Oxidative phosphorylation_Homo sapiens_hsa001900.60579405
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59769852
65Glucagon signaling pathway_Homo sapiens_hsa049220.55128091
66Ras signaling pathway_Homo sapiens_hsa040140.52538177
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52158906
68Circadian rhythm_Homo sapiens_hsa047100.49758661
69Inositol phosphate metabolism_Homo sapiens_hsa005620.49567374
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48170041
71Rap1 signaling pathway_Homo sapiens_hsa040150.47840048
72Type I diabetes mellitus_Homo sapiens_hsa049400.47679916
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46988181
74Alcoholism_Homo sapiens_hsa050340.46548343
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.45442905
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44999907
77Bile secretion_Homo sapiens_hsa049760.42614222
78Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.41839715
79VEGF signaling pathway_Homo sapiens_hsa043700.41335683
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39892649
81African trypanosomiasis_Homo sapiens_hsa051430.39554695
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.39278597
83Histidine metabolism_Homo sapiens_hsa003400.39132621
84Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38257960
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37904494
86mTOR signaling pathway_Homo sapiens_hsa041500.37273718
87Wnt signaling pathway_Homo sapiens_hsa043100.36794180
88Ovarian steroidogenesis_Homo sapiens_hsa049130.34568240
89Prion diseases_Homo sapiens_hsa050200.34144820
90Nitrogen metabolism_Homo sapiens_hsa009100.33699210
91Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33661949
92Parkinsons disease_Homo sapiens_hsa050120.33616821
93Fatty acid biosynthesis_Homo sapiens_hsa000610.33125227
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33027616
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32813202
96Mineral absorption_Homo sapiens_hsa049780.32352002
97Rheumatoid arthritis_Homo sapiens_hsa053230.32183948
98Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31216455
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30981658
100Endocytosis_Homo sapiens_hsa041440.30424385
101Renal cell carcinoma_Homo sapiens_hsa052110.29040736
102Arginine and proline metabolism_Homo sapiens_hsa003300.28106982
103Huntingtons disease_Homo sapiens_hsa050160.27190202
104Insulin signaling pathway_Homo sapiens_hsa049100.25462967
105Endometrial cancer_Homo sapiens_hsa052130.24910496
106Non-small cell lung cancer_Homo sapiens_hsa052230.24086915
107Arginine biosynthesis_Homo sapiens_hsa002200.24002465
108beta-Alanine metabolism_Homo sapiens_hsa004100.19945196
109Hippo signaling pathway_Homo sapiens_hsa043900.19470437
110Tight junction_Homo sapiens_hsa045300.19430155
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.17249890
112HIF-1 signaling pathway_Homo sapiens_hsa040660.17181206
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15793254

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