GABBR2

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 multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.25811476
2synaptic vesicle maturation (GO:0016188)5.71129025
3vocalization behavior (GO:0071625)5.68682564
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.66868824
5locomotory exploration behavior (GO:0035641)5.62525836
6synaptic vesicle exocytosis (GO:0016079)5.58914199
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.58776598
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.54593724
9glutamate secretion (GO:0014047)5.46550738
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.14425566
11regulation of glutamate receptor signaling pathway (GO:1900449)5.07318798
12gamma-aminobutyric acid transport (GO:0015812)5.05681423
13regulation of synaptic vesicle exocytosis (GO:2000300)5.00020444
14neuron cell-cell adhesion (GO:0007158)4.87920120
15protein localization to synapse (GO:0035418)4.82567395
16neuronal action potential propagation (GO:0019227)4.79040489
17synaptic vesicle docking involved in exocytosis (GO:0016081)4.70745354
18glutamate receptor signaling pathway (GO:0007215)4.67645955
19neurotransmitter secretion (GO:0007269)4.63928052
20synaptic transmission, glutamatergic (GO:0035249)4.63688721
21exploration behavior (GO:0035640)4.52122424
22regulation of synaptic vesicle transport (GO:1902803)4.48375492
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.45138741
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.43824466
25regulation of neuronal synaptic plasticity (GO:0048168)4.41352492
26cellular potassium ion homeostasis (GO:0030007)4.32504334
27neuron-neuron synaptic transmission (GO:0007270)4.20652887
28layer formation in cerebral cortex (GO:0021819)4.16886796
29central nervous system myelination (GO:0022010)4.09808772
30axon ensheathment in central nervous system (GO:0032291)4.09808772
31neurotransmitter-gated ion channel clustering (GO:0072578)4.09467961
32proline transport (GO:0015824)4.06433916
33potassium ion homeostasis (GO:0055075)4.04841799
34long-term memory (GO:0007616)4.02671564
35dendritic spine morphogenesis (GO:0060997)3.86692260
36sodium ion export (GO:0071436)3.86305710
37regulation of excitatory postsynaptic membrane potential (GO:0060079)3.86181420
38positive regulation of membrane potential (GO:0045838)3.83757156
39positive regulation of synapse maturation (GO:0090129)3.83121079
40neuron recognition (GO:0008038)3.79993811
41regulation of synapse structural plasticity (GO:0051823)3.79125337
42amino acid import (GO:0043090)3.78404248
43neurotransmitter transport (GO:0006836)3.77932510
44negative regulation of synaptic transmission, GABAergic (GO:0032229)3.77381215
45regulation of voltage-gated calcium channel activity (GO:1901385)3.72834843
46cerebellar Purkinje cell differentiation (GO:0021702)3.69807142
47regulation of postsynaptic membrane potential (GO:0060078)3.68217001
48postsynaptic membrane organization (GO:0001941)3.68028653
49membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.63745403
50G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.62556675
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.62447393
52positive regulation of dendritic spine morphogenesis (GO:0061003)3.59511013
53regulation of synaptic plasticity (GO:0048167)3.59391512
54transmission of nerve impulse (GO:0019226)3.59148305
55* gamma-aminobutyric acid signaling pathway (GO:0007214)3.57591343
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.56465523
57serotonin metabolic process (GO:0042428)3.52045833
58regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.51881622
59presynaptic membrane assembly (GO:0097105)3.51461741
60regulation of neurotransmitter levels (GO:0001505)3.51370154
61regulation of dendritic spine morphogenesis (GO:0061001)3.49936791
62axonal fasciculation (GO:0007413)3.48380581
63regulation of neurotransmitter secretion (GO:0046928)3.48346995
64synaptic vesicle endocytosis (GO:0048488)3.44276076
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.41951070
66neuromuscular synaptic transmission (GO:0007274)3.39804887
67regulation of vesicle fusion (GO:0031338)3.38965024
68cell communication by electrical coupling (GO:0010644)3.36082611
69cell differentiation in hindbrain (GO:0021533)3.35659505
70neurotransmitter uptake (GO:0001504)3.35332925
71long-term synaptic potentiation (GO:0060291)3.30613624
72activation of protein kinase A activity (GO:0034199)3.30061449
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.29960549
74neuronal ion channel clustering (GO:0045161)3.27050942
75cerebellar granule cell differentiation (GO:0021707)3.26873083
76C4-dicarboxylate transport (GO:0015740)3.26676157
77membrane depolarization during action potential (GO:0086010)3.26569963
78presynaptic membrane organization (GO:0097090)3.24900860
79neuromuscular process controlling balance (GO:0050885)3.24514465
80acidic amino acid transport (GO:0015800)3.23766634
81dendrite morphogenesis (GO:0048813)3.22664412
82membrane depolarization (GO:0051899)3.21931854
83positive regulation of neurotransmitter transport (GO:0051590)3.19324803
84regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.17694260
85primary amino compound metabolic process (GO:1901160)3.14701062
86negative regulation of dendrite morphogenesis (GO:0050774)3.14422576
87innervation (GO:0060384)3.14114269
88regulation of neurotransmitter transport (GO:0051588)3.12944823
89neuromuscular process controlling posture (GO:0050884)3.11515345
90positive regulation of synaptic transmission, GABAergic (GO:0032230)3.10896350
91startle response (GO:0001964)3.10406346
92regulation of dendritic spine development (GO:0060998)3.10090264
93cerebellar Purkinje cell layer development (GO:0021680)3.09862746
94regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.09340386
95synapse assembly (GO:0007416)3.08601855
96prepulse inhibition (GO:0060134)3.07109635
97positive regulation of dendritic spine development (GO:0060999)3.06351188
98membrane hyperpolarization (GO:0060081)3.06004823
99learning (GO:0007612)3.05286770
100positive regulation of potassium ion transmembrane transport (GO:1901381)3.04494255
101response to histamine (GO:0034776)3.04486967
102cellular sodium ion homeostasis (GO:0006883)3.03353899
103positive regulation of neurotransmitter secretion (GO:0001956)3.03347803
104* synaptic transmission (GO:0007268)3.03307358
105behavioral response to cocaine (GO:0048148)3.03097376
106regulation of synaptic transmission (GO:0050804)3.01935545
107glycine transport (GO:0015816)2.99637599
108intraspecies interaction between organisms (GO:0051703)2.98503774
109social behavior (GO:0035176)2.98503774
110response to auditory stimulus (GO:0010996)2.97860618
111neuromuscular process (GO:0050905)2.97197373
112regulation of synapse maturation (GO:0090128)2.96058198
113auditory behavior (GO:0031223)2.95680516
114vesicle transport along microtubule (GO:0047496)2.95367630
115negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.95007282
116potassium ion import (GO:0010107)2.94298730
117long term synaptic depression (GO:0060292)2.93347691
118G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.93287620
119L-amino acid import (GO:0043092)2.92412277
120behavioral defense response (GO:0002209)2.90860925
121behavioral fear response (GO:0001662)2.90860925
122regulation of calcium ion-dependent exocytosis (GO:0017158)2.90317639

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EZH2_22144423_ChIP-Seq_EOC_Human5.65579701
2GBX2_23144817_ChIP-Seq_PC3_Human3.65745484
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15036160
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07796679
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06075871
6REST_21632747_ChIP-Seq_MESCs_Mouse2.75457552
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.71626634
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.71626634
9* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62053079
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.61993861
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57695857
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53987948
13* DROSHA_22980978_ChIP-Seq_HELA_Human2.52019999
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49897051
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45726143
16* EZH2_27304074_Chip-Seq_ESCs_Mouse2.38880134
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.34677339
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.34383908
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21483130
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.20550234
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.18898958
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.15901176
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.14296700
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.11741547
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00177574
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91022251
27AR_21572438_ChIP-Seq_LNCaP_Human1.90441409
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87879795
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87842519
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.79452051
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.79077650
32TAF15_26573619_Chip-Seq_HEK293_Human1.75249797
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.70419798
34* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68495077
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67706903
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.53943320
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49757332
38ZNF274_21170338_ChIP-Seq_K562_Hela1.48990965
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.47478165
40P300_19829295_ChIP-Seq_ESCs_Human1.43687632
41* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34889952
42AR_25329375_ChIP-Seq_VCAP_Human1.33773997
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32223672
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32141649
45* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31711796
46SMAD_19615063_ChIP-ChIP_OVARY_Human1.31391399
47TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30355038
48* SMAD3_21741376_ChIP-Seq_EPCs_Human1.29012371
49RING1B_27294783_Chip-Seq_ESCs_Mouse1.28535165
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26253257
51* STAT3_23295773_ChIP-Seq_U87_Human1.24468562
52PIAS1_25552417_ChIP-Seq_VCAP_Human1.23717408
53* CBX2_27304074_Chip-Seq_ESCs_Mouse1.22406171
54* AR_19668381_ChIP-Seq_PC3_Human1.21998918
55* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21479623
56* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21111982
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16486765
58TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13970210
59* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13842465
60TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11764999
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11752943
62CDX2_19796622_ChIP-Seq_MESCs_Mouse1.11646437
63DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10978103
64* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10246978
65* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09663480
66BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09432377
67* TCF4_23295773_ChIP-Seq_U87_Human1.08831262
68IGF1R_20145208_ChIP-Seq_DFB_Human1.08454122
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06624420
70RING1B_27294783_Chip-Seq_NPCs_Mouse1.05558449
71ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.04943289
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04930670
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.04813792
74POU3F2_20337985_ChIP-ChIP_501MEL_Human1.01954512
75TP53_20018659_ChIP-ChIP_R1E_Mouse1.01163533
76TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99690435
77RUNX2_22187159_ChIP-Seq_PCA_Human0.99642602
78AHR_22903824_ChIP-Seq_MCF-7_Human0.99552326
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99463953
80* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99343613
81NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99323274
82TP53_16413492_ChIP-PET_HCT116_Human0.98910425
83P53_22127205_ChIP-Seq_FIBROBLAST_Human0.98307217
84PRDM14_20953172_ChIP-Seq_ESCs_Human0.98271719
85* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96359994
86GATA1_26923725_Chip-Seq_HPCs_Mouse0.96003244
87RNF2_27304074_Chip-Seq_NSC_Mouse0.95241476
88FUS_26573619_Chip-Seq_HEK293_Human0.94800261
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.94587495
90BCAT_22108803_ChIP-Seq_LS180_Human0.94551064
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.94513010
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94412193
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94412193
94KDM2B_26808549_Chip-Seq_K562_Human0.93735373
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.92958974
96TP53_18474530_ChIP-ChIP_U2OS_Human0.92249959
97KDM2B_26808549_Chip-Seq_REH_Human0.91170852
98* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.90405027
99MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.89777676
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89513672
101JUN_21703547_ChIP-Seq_K562_Human0.89335488
102RXR_22108803_ChIP-Seq_LS180_Human0.89053292
103CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88869225
104CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88618226
105WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88368589
106VDR_22108803_ChIP-Seq_LS180_Human0.88284456
107PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87923389
108KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.86992923
109THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.86217509
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.84793781
111NANOG_18555785_Chip-Seq_ESCs_Mouse0.84266758
112FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.82781205
113SOX9_26525672_Chip-Seq_HEART_Mouse0.81951471
114BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80588807
115FLI1_21867929_ChIP-Seq_TH2_Mouse0.80253835

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.72994222
2MP0003880_abnormal_central_pattern5.19797988
3* MP0003635_abnormal_synaptic_transmissio4.29746953
4MP0004270_analgesia3.77907624
5* MP0009745_abnormal_behavioral_response3.48413041
6MP0009046_muscle_twitch3.39178249
7* MP0002063_abnormal_learning/memory/cond3.34674471
8* MP0002064_seizures3.26324386
9* MP0001968_abnormal_touch/_nociception2.90767826
10MP0005423_abnormal_somatic_nervous2.87671680
11* MP0002572_abnormal_emotion/affect_behav2.83088400
12* MP0002272_abnormal_nervous_system2.67077929
13MP0001486_abnormal_startle_reflex2.59387298
14* MP0002734_abnormal_mechanical_nocicepti2.59262424
15MP0002736_abnormal_nociception_after2.55184585
16MP0002735_abnormal_chemical_nociception2.46041650
17MP0001501_abnormal_sleep_pattern2.41344810
18MP0001440_abnormal_grooming_behavior2.24787743
19MP0003329_amyloid_beta_deposits2.10328544
20* MP0002067_abnormal_sensory_capabilities2.06364051
21* MP0002733_abnormal_thermal_nociception2.04738618
22MP0008569_lethality_at_weaning2.00955206
23MP0009780_abnormal_chondrocyte_physiolo1.95394594
24* MP0001970_abnormal_pain_threshold1.94504958
25MP0004858_abnormal_nervous_system1.89708047
26MP0002184_abnormal_innervation1.85989949
27MP0002822_catalepsy1.80696288
28MP0002557_abnormal_social/conspecific_i1.78669755
29MP0000778_abnormal_nervous_system1.76590238
30MP0006276_abnormal_autonomic_nervous1.69818010
31MP0004811_abnormal_neuron_physiology1.67208618
32MP0001984_abnormal_olfaction1.66081420
33MP0004924_abnormal_behavior1.65802848
34MP0005386_behavior/neurological_phenoty1.65802848
35MP0002909_abnormal_adrenal_gland1.64779931
36MP0003879_abnormal_hair_cell1.63773277
37MP0005646_abnormal_pituitary_gland1.59777827
38MP0004885_abnormal_endolymph1.54336922
39MP0000955_abnormal_spinal_cord1.53314610
40MP0003633_abnormal_nervous_system1.45656145
41* MP0002066_abnormal_motor_capabilities/c1.42770273
42MP0002882_abnormal_neuron_morphology1.38728626
43MP0003787_abnormal_imprinting1.30616705
44MP0001502_abnormal_circadian_rhythm1.29841664
45MP0004142_abnormal_muscle_tone1.27015541
46MP0005645_abnormal_hypothalamus_physiol1.24659391
47MP0003631_nervous_system_phenotype1.22140469
48MP0004145_abnormal_muscle_electrophysio1.12890228
49MP0002837_dystrophic_cardiac_calcinosis1.11540711
50MP0001905_abnormal_dopamine_level1.10896471
51MP0002152_abnormal_brain_morphology1.08087827
52MP0008872_abnormal_physiological_respon1.06877994
53MP0001188_hyperpigmentation1.01526199
54MP0000604_amyloidosis1.01008549
55MP0002229_neurodegeneration0.99794422
56MP0008877_abnormal_DNA_methylation0.98126046
57MP0001986_abnormal_taste_sensitivity0.95848181
58MP0010386_abnormal_urinary_bladder0.95305773
59MP0001529_abnormal_vocalization0.95073240
60MP0002069_abnormal_eating/drinking_beha0.94469447
61MP0005551_abnormal_eye_electrophysiolog0.94341566
62MP0003122_maternal_imprinting0.94230346
63MP0003690_abnormal_glial_cell0.92095464
64MP0005535_abnormal_body_temperature0.90483228
65MP0003632_abnormal_nervous_system0.90105120
66MP0002876_abnormal_thyroid_physiology0.88859704
67MP0001177_atelectasis0.88410685
68* MP0008874_decreased_physiological_sensi0.87837777
69MP0004215_abnormal_myocardial_fiber0.87511229
70MP0004742_abnormal_vestibular_system0.84448498
71MP0001963_abnormal_hearing_physiology0.83359039
72MP0000751_myopathy0.82535895
73MP0000026_abnormal_inner_ear0.82243550
74MP0003075_altered_response_to0.82102492
75MP0003634_abnormal_glial_cell0.80607507
76MP0002653_abnormal_ependyma_morphology0.80158541
77MP0004085_abnormal_heartbeat0.79485229
78MP0004130_abnormal_muscle_cell0.78534582
79MP0000013_abnormal_adipose_tissue0.77936538
80MP0000920_abnormal_myelination0.77913359
81MP0004484_altered_response_of0.77842172
82MP0000569_abnormal_digit_pigmentation0.75421430
83MP0002638_abnormal_pupillary_reflex0.73261944
84MP0003283_abnormal_digestive_organ0.72322636
85MP0002752_abnormal_somatic_nervous0.70667562
86MP0002090_abnormal_vision0.70463618
87MP0004510_myositis0.70196485
88MP0004147_increased_porphyrin_level0.68264725
89MP0003123_paternal_imprinting0.67875568
90MP0001485_abnormal_pinna_reflex0.67284154
91MP0005623_abnormal_meninges_morphology0.66882505
92MP0005394_taste/olfaction_phenotype0.65595262
93MP0005499_abnormal_olfactory_system0.65595262
94MP0000631_abnormal_neuroendocrine_gland0.65019080
95MP0003137_abnormal_impulse_conducting0.60230885
96MP0008961_abnormal_basal_metabolism0.59947052
97MP0004043_abnormal_pH_regulation0.59892803
98MP0005167_abnormal_blood-brain_barrier0.57552552
99MP0006292_abnormal_olfactory_placode0.57340129
100MP0003938_abnormal_ear_development0.56825636
101MP0003172_abnormal_lysosome_physiology0.55262046
102MP0001348_abnormal_lacrimal_gland0.54284783
103MP0001664_abnormal_digestion0.54059807
104MP0003136_yellow_coat_color0.53728650
105MP0010769_abnormal_survival0.53557991
106MP0002082_postnatal_lethality0.52399593
107MP0010770_preweaning_lethality0.52399593
108MP0010234_abnormal_vibrissa_follicle0.52149288
109MP0001943_abnormal_respiration0.52037844
110MP0005253_abnormal_eye_physiology0.51794457
111MP0001299_abnormal_eye_distance/0.51389925
112MP0003861_abnormal_nervous_system0.50997413
113MP0004233_abnormal_muscle_weight0.50442855
114* MP0003956_abnormal_body_size0.49980639
115MP0009379_abnormal_foot_pigmentation0.49698493
116MP0005187_abnormal_penis_morphology0.48041693
117MP0010768_mortality/aging0.47985961
118MP0002160_abnormal_reproductive_system0.47668005
119MP0001346_abnormal_lacrimal_gland0.46637289

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.71172900
2Myokymia (HP:0002411)6.59515759
3Focal seizures (HP:0007359)6.21595636
4Visual hallucinations (HP:0002367)5.82019569
5Epileptic encephalopathy (HP:0200134)5.30515477
6Progressive cerebellar ataxia (HP:0002073)5.02065212
7Atonic seizures (HP:0010819)4.96443294
8Febrile seizures (HP:0002373)4.95569089
9Absence seizures (HP:0002121)4.54327040
10Generalized tonic-clonic seizures (HP:0002069)4.31711271
11Action tremor (HP:0002345)4.25506643
12Dialeptic seizures (HP:0011146)4.18147759
13Hyperventilation (HP:0002883)3.81051876
14Gaze-evoked nystagmus (HP:0000640)3.77998199
15Broad-based gait (HP:0002136)3.67666532
16Supranuclear gaze palsy (HP:0000605)3.62545733
17Dysdiadochokinesis (HP:0002075)3.55045668
18Poor eye contact (HP:0000817)3.51873969
19Dysmetria (HP:0001310)3.26815749
20Impaired social interactions (HP:0000735)3.21782662
21Abnormal social behavior (HP:0012433)3.21782662
22Impaired vibration sensation in the lower limbs (HP:0002166)3.21743623
23Truncal ataxia (HP:0002078)3.20752798
24Depression (HP:0000716)3.18366268
25Genetic anticipation (HP:0003743)3.15055685
26Hemiparesis (HP:0001269)3.10440730
27Abnormality of binocular vision (HP:0011514)3.08280854
28Diplopia (HP:0000651)3.08280854
29Neurofibrillary tangles (HP:0002185)3.05530720
30Urinary bladder sphincter dysfunction (HP:0002839)3.03937485
31Anxiety (HP:0000739)3.01091085
32Ankle clonus (HP:0011448)3.00434495
33Cerebral inclusion bodies (HP:0100314)2.99998525
34Hemiplegia (HP:0002301)2.99496643
35Abnormal eating behavior (HP:0100738)2.98692399
36Impaired smooth pursuit (HP:0007772)2.97131205
37Amblyopia (HP:0000646)2.96800649
38Mutism (HP:0002300)2.96092223
39Postural instability (HP:0002172)2.90619839
40Scanning speech (HP:0002168)2.88007718
41Status epilepticus (HP:0002133)2.87172955
42Papilledema (HP:0001085)2.84978215
43Excessive salivation (HP:0003781)2.84840605
44Drooling (HP:0002307)2.84840605
45Epileptiform EEG discharges (HP:0011182)2.82764635
46Abnormality of the lower motor neuron (HP:0002366)2.70249891
47EEG with generalized epileptiform discharges (HP:0011198)2.69501786
48Intention tremor (HP:0002080)2.65182440
49Abnormality of ocular smooth pursuit (HP:0000617)2.59629542
50Cerebral hypomyelination (HP:0006808)2.58006239
51Hypsarrhythmia (HP:0002521)2.53153341
52Bradykinesia (HP:0002067)2.51548856
53Progressive inability to walk (HP:0002505)2.50429795
54Absent speech (HP:0001344)2.49463182
55Spastic gait (HP:0002064)2.48836060
56Stereotypic behavior (HP:0000733)2.41409954
57Dysmetric saccades (HP:0000641)2.39320419
58Agitation (HP:0000713)2.38258851
59Urinary urgency (HP:0000012)2.36802472
60Generalized myoclonic seizures (HP:0002123)2.34939119
61Torticollis (HP:0000473)2.33769043
62Focal dystonia (HP:0004373)2.31954117
63Fetal akinesia sequence (HP:0001989)2.24972485
64Polyphagia (HP:0002591)2.24874596
65Insidious onset (HP:0003587)2.24701808
66Termporal pattern (HP:0011008)2.24701808
67Megalencephaly (HP:0001355)2.24508048
68Impaired vibratory sensation (HP:0002495)2.23805195
69Inability to walk (HP:0002540)2.23008580
70Tetraplegia (HP:0002445)2.21307936
71Sleep apnea (HP:0010535)2.21185815
72Abnormality of the corticospinal tract (HP:0002492)2.20932161
73Degeneration of the lateral corticospinal tracts (HP:0002314)2.17546621
74Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.17546621
75Ventricular fibrillation (HP:0001663)2.16389643
76Pheochromocytoma (HP:0002666)2.15140222
77Confusion (HP:0001289)2.11176987
78Amyotrophic lateral sclerosis (HP:0007354)2.07994226
79Gait ataxia (HP:0002066)2.06224274
80Blue irides (HP:0000635)2.05330929
81Limb dystonia (HP:0002451)2.05153305
82Morphological abnormality of the pyramidal tract (HP:0002062)2.03472679
83Lower limb muscle weakness (HP:0007340)2.03225449
84Craniofacial dystonia (HP:0012179)1.99624959
85Psychosis (HP:0000709)1.96273580
86Abnormality of salivation (HP:0100755)1.93611190
87Increased circulating renin level (HP:0000848)1.92222378
88Neuronal loss in central nervous system (HP:0002529)1.91596105
89Incomplete penetrance (HP:0003829)1.87861068
90Obstructive sleep apnea (HP:0002870)1.82984168
91Delusions (HP:0000746)1.82820230
92Abnormality of saccadic eye movements (HP:0000570)1.81818381
93Decreased central vision (HP:0007663)1.81648674
94Gait imbalance (HP:0002141)1.81444915
95Neuroendocrine neoplasm (HP:0100634)1.81085648
96Rigidity (HP:0002063)1.80943449
97Aplasia involving bones of the upper limbs (HP:0009823)1.80251486
98Aplasia of the phalanges of the hand (HP:0009802)1.80251486
99Aplasia involving bones of the extremities (HP:0009825)1.80251486
100Lower limb asymmetry (HP:0100559)1.80223048
101Protruding tongue (HP:0010808)1.78640782
102Split foot (HP:0001839)1.78568553
103Specific learning disability (HP:0001328)1.78371920
104Postural tremor (HP:0002174)1.77393428
105Rapidly progressive (HP:0003678)1.75961144
106Akinesia (HP:0002304)1.75657586
107Inappropriate behavior (HP:0000719)1.75295172
108Annular pancreas (HP:0001734)1.74565504
109Insomnia (HP:0100785)1.73026336
110Spastic tetraplegia (HP:0002510)1.71030713
111Generalized hypopigmentation of hair (HP:0011358)1.70520823
112Clonus (HP:0002169)1.68860797
113Spastic tetraparesis (HP:0001285)1.67316132
114Bundle branch block (HP:0011710)1.66056688
115Peripheral hypomyelination (HP:0007182)1.64508889
116Choreoathetosis (HP:0001266)1.62759193
117Abnormal EKG (HP:0003115)1.61801974
118Syncope (HP:0001279)1.61460196
119CNS hypomyelination (HP:0003429)1.61452193
120Prolonged QT interval (HP:0001657)1.56754130

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.94487756
2EPHA44.45642473
3MAP3K93.72648548
4MAP3K43.27539776
5MARK12.89042365
6MAP2K72.87335977
7MINK12.62537754
8DAPK22.41507951
9RIPK42.31469788
10PAK62.23405952
11MAP2K42.17387038
12NTRK22.11646567
13TNIK2.01332845
14MAP3K121.99428184
15NTRK11.97548229
16KSR21.91598481
17CASK1.89055512
18CAMKK11.79788463
19PRKD31.63902302
20PNCK1.60921300
21DAPK11.52050763
22CDK51.50686273
23PLK21.48591472
24FES1.48069135
25KSR11.46612499
26GRK51.44556384
27STK381.43023304
28SIK21.37275962
29PRKCG1.33351630
30MAPK131.29363767
31ARAF1.21920552
32PRPF4B1.14757498
33CDK191.13368931
34MAP3K131.08528776
35CAMKK21.05140399
36PHKG11.05039182
37PHKG21.05039182
38CAMK2A1.04944802
39MAP3K21.04209675
40LATS21.03218389
41UHMK10.99969958
42PKN10.95927863
43BMPR20.95845920
44CAMK10.91614956
45TYRO30.91131562
46CAMK2B0.87352108
47RET0.86498476
48SGK4940.83790341
49SGK2230.83790341
50CDK180.82533824
51CDK150.81891064
52STK110.80915532
53SGK20.79343967
54CDK140.78982669
55PAK30.77047351
56PINK10.76478369
57MAP3K60.75476163
58RAF10.73598311
59DYRK1A0.72268308
60TAOK10.71895481
61PRKCH0.71051404
62FRK0.70732243
63CDK11A0.70048794
64SGK10.69817306
65FER0.69079632
66CSNK1G20.67681239
67SGK30.64198540
68PDK10.63613879
69PTK2B0.63588185
70OXSR10.63177170
71LMTK20.63081237
72CAMK1G0.60044941
73TNK20.59950420
74LIMK10.59845864
75ALK0.58965678
76CAMK2D0.57853257
77PRKCE0.57584923
78INSRR0.57496238
79MAP3K10.57219418
80PDPK10.57077334
81ADRBK20.55419938
82MARK20.54355641
83MAP3K70.53509405
84GRK10.52764480
85CDC42BPA0.52475327
86PRKCZ0.52061368
87CAMK2G0.51556432
88DAPK30.49804581
89CSNK1G30.48019430
90RPS6KA30.47768728
91CCNB10.47188695
92NME10.46717964
93PRKG10.46643138
94PRKACA0.44461743
95FGFR20.44191265
96NEK60.43868101
97PRKG20.43477648
98FGR0.41967682
99MAPK120.40951898
100FYN0.40593963
101MAPKAPK50.40514222
102CSNK1A1L0.40209522
103WNK10.40204417
104MAPK100.39959939
105SCYL20.38604757
106DYRK20.38517236
107CAMK40.38408676
108CSNK1A10.38106511
109ERBB20.37691473
110MAP2K10.37606888
111RIPK10.36312178
112CSNK1D0.35976799
113ROCK10.35319428
114CSNK1G10.35257184
115BRSK10.31944394
116PRKCB0.31754851
117PRKCA0.31326345
118ROCK20.31258719
119MAP3K50.29611460
120AKT30.29322560
121WNK30.28544140

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.06504492
2Synaptic vesicle cycle_Homo sapiens_hsa047213.31842636
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.82487569
4Long-term potentiation_Homo sapiens_hsa047202.79629164
5* GABAergic synapse_Homo sapiens_hsa047272.75081671
6Circadian entrainment_Homo sapiens_hsa047132.73633964
7Glutamatergic synapse_Homo sapiens_hsa047242.71719475
8Olfactory transduction_Homo sapiens_hsa047402.48337330
9Amphetamine addiction_Homo sapiens_hsa050312.44105321
10* Morphine addiction_Homo sapiens_hsa050322.37044064
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27851897
12Salivary secretion_Homo sapiens_hsa049702.24001808
13Insulin secretion_Homo sapiens_hsa049112.12102665
14Dopaminergic synapse_Homo sapiens_hsa047282.09929719
15Gastric acid secretion_Homo sapiens_hsa049711.91374646
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.86487781
17Long-term depression_Homo sapiens_hsa047301.80022204
18Cholinergic synapse_Homo sapiens_hsa047251.79641695
19* Taste transduction_Homo sapiens_hsa047421.79088834
20Serotonergic synapse_Homo sapiens_hsa047261.65001126
21Renin secretion_Homo sapiens_hsa049241.63121385
22Calcium signaling pathway_Homo sapiens_hsa040201.59102355
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59052906
24Oxytocin signaling pathway_Homo sapiens_hsa049211.56929683
25Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.55663866
26Nitrogen metabolism_Homo sapiens_hsa009101.50672246
27Cocaine addiction_Homo sapiens_hsa050301.45567197
28Collecting duct acid secretion_Homo sapiens_hsa049661.44487460
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.41897402
30GnRH signaling pathway_Homo sapiens_hsa049121.39957734
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34966630
32Type II diabetes mellitus_Homo sapiens_hsa049301.30201908
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28335998
34* cAMP signaling pathway_Homo sapiens_hsa040241.21240503
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.19819338
36Gap junction_Homo sapiens_hsa045401.19676259
37Vitamin B6 metabolism_Homo sapiens_hsa007501.12411123
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10373307
39* Estrogen signaling pathway_Homo sapiens_hsa049151.06988990
40Glioma_Homo sapiens_hsa052141.03329696
41* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.00656693
42Melanogenesis_Homo sapiens_hsa049160.99908673
43cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98947153
44Axon guidance_Homo sapiens_hsa043600.98776397
45Cardiac muscle contraction_Homo sapiens_hsa042600.95958244
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.95765883
47ErbB signaling pathway_Homo sapiens_hsa040120.95222642
48Pancreatic secretion_Homo sapiens_hsa049720.93314981
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89435946
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.86811734
51Thyroid hormone synthesis_Homo sapiens_hsa049180.84132929
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83632373
53Dorso-ventral axis formation_Homo sapiens_hsa043200.83361685
54Vibrio cholerae infection_Homo sapiens_hsa051100.81923204
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.77934670
56Bile secretion_Homo sapiens_hsa049760.74817497
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72085161
58Oocyte meiosis_Homo sapiens_hsa041140.70894563
59Choline metabolism in cancer_Homo sapiens_hsa052310.70488271
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69610758
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66560478
62Phototransduction_Homo sapiens_hsa047440.65915908
63Type I diabetes mellitus_Homo sapiens_hsa049400.64106436
64Glucagon signaling pathway_Homo sapiens_hsa049220.62228484
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62099416
66MAPK signaling pathway_Homo sapiens_hsa040100.61615805
67Dilated cardiomyopathy_Homo sapiens_hsa054140.60034807
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59961813
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55060833
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.53943505
71VEGF signaling pathway_Homo sapiens_hsa043700.52279698
72Circadian rhythm_Homo sapiens_hsa047100.51635014
73Ras signaling pathway_Homo sapiens_hsa040140.49762094
74Oxidative phosphorylation_Homo sapiens_hsa001900.49757526
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46664447
76African trypanosomiasis_Homo sapiens_hsa051430.46509518
77Butanoate metabolism_Homo sapiens_hsa006500.46069763
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.45341955
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45072526
80Inositol phosphate metabolism_Homo sapiens_hsa005620.44347606
81Rap1 signaling pathway_Homo sapiens_hsa040150.43356308
82mTOR signaling pathway_Homo sapiens_hsa041500.42076730
83Alzheimers disease_Homo sapiens_hsa050100.40781942
84Histidine metabolism_Homo sapiens_hsa003400.40243713
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.39224964
86Prion diseases_Homo sapiens_hsa050200.37772656
87Arginine biosynthesis_Homo sapiens_hsa002200.37236580
88Mineral absorption_Homo sapiens_hsa049780.36992144
89Parkinsons disease_Homo sapiens_hsa050120.36238305
90Insulin signaling pathway_Homo sapiens_hsa049100.35539813
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35224725
92beta-Alanine metabolism_Homo sapiens_hsa004100.34675553
93Wnt signaling pathway_Homo sapiens_hsa043100.33586254
94Alcoholism_Homo sapiens_hsa050340.32722813
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32343853
96Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31724493
97Ovarian steroidogenesis_Homo sapiens_hsa049130.30117218
98Endometrial cancer_Homo sapiens_hsa052130.29833385
99Endocytosis_Homo sapiens_hsa041440.28597131
100Arginine and proline metabolism_Homo sapiens_hsa003300.28111875
101Glycerophospholipid metabolism_Homo sapiens_hsa005640.27068401
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26719033
103Fatty acid biosynthesis_Homo sapiens_hsa000610.26434841
104SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25920434
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25662340
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25382569
107Non-small cell lung cancer_Homo sapiens_hsa052230.24653441
108Hippo signaling pathway_Homo sapiens_hsa043900.23836509
109Renal cell carcinoma_Homo sapiens_hsa052110.22564095
110Glycerolipid metabolism_Homo sapiens_hsa005610.22477098
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.19278341
112Huntingtons disease_Homo sapiens_hsa050160.11469014

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