GRIA4

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. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.31185148
2locomotory exploration behavior (GO:0035641)5.87973412
3vocalization behavior (GO:0071625)5.52853830
4neuronal action potential propagation (GO:0019227)5.41794224
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.36503459
6synaptic vesicle maturation (GO:0016188)5.32508266
7cerebellar granule cell differentiation (GO:0021707)5.27844560
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.26172570
9presynaptic membrane organization (GO:0097090)5.26106276
10synaptic vesicle exocytosis (GO:0016079)5.19460671
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.14575396
12glutamate secretion (GO:0014047)5.10775486
13gamma-aminobutyric acid transport (GO:0015812)4.99885556
14regulation of synaptic vesicle exocytosis (GO:2000300)4.85910772
15* ionotropic glutamate receptor signaling pathway (GO:0035235)4.83751700
16neurotransmitter secretion (GO:0007269)4.82755939
17neuron cell-cell adhesion (GO:0007158)4.76310196
18presynaptic membrane assembly (GO:0097105)4.69430175
19* glutamate receptor signaling pathway (GO:0007215)4.58023019
20cerebellar Purkinje cell differentiation (GO:0021702)4.57231685
21regulation of glutamate receptor signaling pathway (GO:1900449)4.54013369
22* synaptic transmission, glutamatergic (GO:0035249)4.47818497
23pyrimidine nucleobase catabolic process (GO:0006208)4.45376799
24synaptic vesicle docking involved in exocytosis (GO:0016081)4.45304203
25cellular potassium ion homeostasis (GO:0030007)4.42930234
26exploration behavior (GO:0035640)4.36883605
27protein localization to synapse (GO:0035418)4.31915469
28G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.28890219
29* neuron-neuron synaptic transmission (GO:0007270)4.27488990
30regulation of synaptic vesicle transport (GO:1902803)4.25756507
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.20617867
32layer formation in cerebral cortex (GO:0021819)4.20119589
33regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.17096953
34neurotransmitter-gated ion channel clustering (GO:0072578)4.13455166
35regulation of long-term neuronal synaptic plasticity (GO:0048169)4.11391785
36response to pheromone (GO:0019236)4.11272601
37negative regulation of synaptic transmission, GABAergic (GO:0032229)4.06665151
38sodium ion export (GO:0071436)4.04586184
39long-term memory (GO:0007616)4.03277882
40positive regulation of synapse maturation (GO:0090129)4.00701992
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.99033185
42neurotransmitter transport (GO:0006836)3.95217303
43positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.92366139
44neuromuscular process controlling posture (GO:0050884)3.88348314
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.87629581
46cell differentiation in hindbrain (GO:0021533)3.86872310
47regulation of neuronal synaptic plasticity (GO:0048168)3.86292106
48transmission of nerve impulse (GO:0019226)3.81236890
49nucleobase catabolic process (GO:0046113)3.76421883
50regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.73553674
51regulation of postsynaptic membrane potential (GO:0060078)3.71114002
52startle response (GO:0001964)3.69003323
53proline transport (GO:0015824)3.66521885
54regulation of synapse structural plasticity (GO:0051823)3.65471610
55regulation of neurotransmitter levels (GO:0001505)3.64491551
56positive regulation of membrane potential (GO:0045838)3.64397234
57dendritic spine morphogenesis (GO:0060997)3.64266012
58glycine transport (GO:0015816)3.62185144
59positive regulation of synapse assembly (GO:0051965)3.59766197
60synaptic vesicle endocytosis (GO:0048488)3.59315540
61C4-dicarboxylate transport (GO:0015740)3.55335943
62postsynaptic membrane organization (GO:0001941)3.51906235
63membrane hyperpolarization (GO:0060081)3.51578832
64neuron recognition (GO:0008038)3.50553677
65amino acid import (GO:0043090)3.48718168
66neurotransmitter uptake (GO:0001504)3.48151881
67auditory behavior (GO:0031223)3.47972570
68regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.45595778
69neuromuscular process controlling balance (GO:0050885)3.44846569
70establishment of mitochondrion localization (GO:0051654)3.44311090
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.44020392
72cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43523956
73regulation of neurotransmitter secretion (GO:0046928)3.42486596
74dendrite morphogenesis (GO:0048813)3.41862905
75regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.40433224
76adult walking behavior (GO:0007628)3.39974483
77membrane depolarization during action potential (GO:0086010)3.36499608
78membrane depolarization (GO:0051899)3.31765077
79axon ensheathment in central nervous system (GO:0032291)3.28666278
80central nervous system myelination (GO:0022010)3.28666278
81activation of protein kinase A activity (GO:0034199)3.27152808
82mechanosensory behavior (GO:0007638)3.26096522
83synapse assembly (GO:0007416)3.25531081
84long-term synaptic potentiation (GO:0060291)3.24606059
85negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.23380384
86regulation of synapse maturation (GO:0090128)3.22241418
87neuromuscular synaptic transmission (GO:0007274)3.21486886
88response to auditory stimulus (GO:0010996)3.20714867
89prepulse inhibition (GO:0060134)3.20614462
90L-amino acid import (GO:0043092)3.18579221
91regulation of synaptic plasticity (GO:0048167)3.18252127
92axonal fasciculation (GO:0007413)3.17881737
93regulation of neurotransmitter transport (GO:0051588)3.16986840
94potassium ion import (GO:0010107)3.14504786
95cell communication by electrical coupling (GO:0010644)3.13283751
96positive regulation of potassium ion transmembrane transport (GO:1901381)3.10215045
97neuromuscular process (GO:0050905)3.09014899
98regulation of vesicle fusion (GO:0031338)3.06167523
99neuronal ion channel clustering (GO:0045161)3.05075292
100acidic amino acid transport (GO:0015800)3.05035125
101positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.02974725
102positive regulation of dendritic spine development (GO:0060999)3.01527512
103glycosphingolipid biosynthetic process (GO:0006688)3.00653210
104positive regulation of dendritic spine morphogenesis (GO:0061003)3.00579453
105neurofilament cytoskeleton organization (GO:0060052)2.99088363
106synapse organization (GO:0050808)2.98931603
107* synaptic transmission (GO:0007268)2.98295019
108potassium ion homeostasis (GO:0055075)2.98097601
109regulation of voltage-gated calcium channel activity (GO:1901385)2.96552337
110regulation of dendritic spine morphogenesis (GO:0061001)2.95191223
111righting reflex (GO:0060013)2.93817047
112establishment of nucleus localization (GO:0040023)2.93618831
113cell migration in hindbrain (GO:0021535)2.91651067
114learning (GO:0007612)2.90562758
115regulation of dendritic spine development (GO:0060998)2.90338451
116positive regulation of synaptic transmission, GABAergic (GO:0032230)2.89662349
117regulation of synaptic transmission (GO:0050804)2.89635607
118cerebellar Purkinje cell layer development (GO:0021680)2.87595816
119serotonin metabolic process (GO:0042428)2.82329140
120neuronal action potential (GO:0019228)2.79701389
121regulation of synapse assembly (GO:0051963)2.77445488

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.71591647
2GBX2_23144817_ChIP-Seq_PC3_Human3.74161477
3* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.16001436
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10229171
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02830067
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76734696
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76734696
8REST_21632747_ChIP-Seq_MESCs_Mouse2.68977225
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.60748201
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.55146682
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53953997
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52803925
13DROSHA_22980978_ChIP-Seq_HELA_Human2.51396661
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49052056
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.46702850
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.43206511
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.41890004
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.37106539
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.25003620
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.18456267
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.16545846
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.16390489
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14956086
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.07671375
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.01205133
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99995352
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.93939895
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91330504
29* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88219505
30TAF15_26573619_Chip-Seq_HEK293_Human1.82165022
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.78429457
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.76933048
33AR_21572438_ChIP-Seq_LNCaP_Human1.76884567
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.74298674
35* SMAD4_21799915_ChIP-Seq_A2780_Human1.73637582
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.73325001
37VDR_22108803_ChIP-Seq_LS180_Human1.58377887
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56285635
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.56061649
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.53631633
41* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52108560
42MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52073765
43ZNF274_21170338_ChIP-Seq_K562_Hela1.48896088
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.43815263
45P300_19829295_ChIP-Seq_ESCs_Human1.40140887
46SMAD_19615063_ChIP-ChIP_OVARY_Human1.38942897
47CBX2_27304074_Chip-Seq_ESCs_Mouse1.36411750
48E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.35785928
49SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35544116
50EWS_26573619_Chip-Seq_HEK293_Human1.34136930
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34049996
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.33179509
53BMI1_23680149_ChIP-Seq_NPCS_Mouse1.31503374
54STAT3_23295773_ChIP-Seq_U87_Human1.31344768
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.28848819
56* AR_19668381_ChIP-Seq_PC3_Human1.26194557
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.26116507
58RING1B_27294783_Chip-Seq_ESCs_Mouse1.25897559
59* AR_25329375_ChIP-Seq_VCAP_Human1.25080313
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24434248
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23456805
62RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22887432
63POU3F2_20337985_ChIP-ChIP_501MEL_Human1.19302763
64RNF2_27304074_Chip-Seq_NSC_Mouse1.18666360
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.17230124
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17149016
67TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16997623
68TCF4_23295773_ChIP-Seq_U87_Human1.16705325
69IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.16427920
70CBP_20019798_ChIP-Seq_JUKART_Human1.16427920
71FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15907576
72TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14992437
73IGF1R_20145208_ChIP-Seq_DFB_Human1.12864039
74FLI1_27457419_Chip-Seq_LIVER_Mouse1.12289706
75* ARNT_22903824_ChIP-Seq_MCF-7_Human1.11512513
76MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11285101
77GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10943051
78LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10448563
79BCAT_22108803_ChIP-Seq_LS180_Human1.10028225
80KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09286675
81TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08186766
82YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08122892
83ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07586730
84* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07093882
85WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07052810
86* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06242803
87AHR_22903824_ChIP-Seq_MCF-7_Human1.05985949
88SOX9_26525672_Chip-Seq_HEART_Mouse1.05974062
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.05829612
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.04680234
91P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03158967
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03042921
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03040885
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03040885
95RUNX2_22187159_ChIP-Seq_PCA_Human1.02529612
96* KDM2B_26808549_Chip-Seq_REH_Human1.01345609
97KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00451964
98SMAD3_21741376_ChIP-Seq_ESCs_Human1.00313948
99TAL1_26923725_Chip-Seq_HPCs_Mouse1.00164914
100EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99703950
101TP53_16413492_ChIP-PET_HCT116_Human0.98975455
102RBPJ_22232070_ChIP-Seq_NCS_Mouse0.97638840
103NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96255533
104KDM2B_26808549_Chip-Seq_K562_Human0.95195062
105ER_23166858_ChIP-Seq_MCF-7_Human0.94579195
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93877534
107CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92636382
108FUS_26573619_Chip-Seq_HEK293_Human0.92562573
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.91227805
110TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90294473
111PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90097952
112VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89980804
113PRDM14_20953172_ChIP-Seq_ESCs_Human0.89605757
114WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.89304294
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.89248168
116RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88362163
117NANOG_18555785_Chip-Seq_ESCs_Mouse0.87437366
118RXR_22108803_ChIP-Seq_LS180_Human0.87294048
119* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.87218113
120SMAD4_21741376_ChIP-Seq_EPCs_Human0.86721218
121TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86659162

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.74736479
2MP0003880_abnormal_central_pattern4.30195554
3MP0009046_muscle_twitch4.25463271
4* MP0003635_abnormal_synaptic_transmissio4.11412752
5MP0004270_analgesia3.44790887
6* MP0009745_abnormal_behavioral_response3.34964338
7* MP0002064_seizures3.23707820
8* MP0002063_abnormal_learning/memory/cond3.07856443
9MP0005423_abnormal_somatic_nervous3.04823594
10MP0001968_abnormal_touch/_nociception2.97437313
11* MP0002272_abnormal_nervous_system2.89850325
12* MP0002572_abnormal_emotion/affect_behav2.78724393
13MP0002734_abnormal_mechanical_nocicepti2.73398422
14MP0001486_abnormal_startle_reflex2.63489617
15MP0008569_lethality_at_weaning2.59501489
16MP0002736_abnormal_nociception_after2.40789561
17MP0002067_abnormal_sensory_capabilities2.39760965
18MP0001501_abnormal_sleep_pattern2.37230805
19MP0001440_abnormal_grooming_behavior2.35079949
20MP0002735_abnormal_chemical_nociception2.33781351
21MP0002184_abnormal_innervation2.19679685
22MP0002557_abnormal_social/conspecific_i1.90286260
23MP0005386_behavior/neurological_phenoty1.87363942
24MP0004924_abnormal_behavior1.87363942
25* MP0002733_abnormal_thermal_nociception1.86911890
26MP0000778_abnormal_nervous_system1.84846526
27* MP0001970_abnormal_pain_threshold1.84648337
28MP0004142_abnormal_muscle_tone1.82739717
29MP0004145_abnormal_muscle_electrophysio1.73633712
30MP0003329_amyloid_beta_deposits1.70522254
31MP0000955_abnormal_spinal_cord1.70352328
32MP0006276_abnormal_autonomic_nervous1.67760606
33MP0004885_abnormal_endolymph1.63800094
34* MP0004811_abnormal_neuron_physiology1.58481193
35MP0001188_hyperpigmentation1.54856138
36MP0002822_catalepsy1.54389954
37* MP0002066_abnormal_motor_capabilities/c1.53545032
38MP0005646_abnormal_pituitary_gland1.52284708
39MP0008877_abnormal_DNA_methylation1.51712696
40MP0009780_abnormal_chondrocyte_physiolo1.50012267
41MP0002882_abnormal_neuron_morphology1.47533769
42MP0004858_abnormal_nervous_system1.43797115
43MP0003879_abnormal_hair_cell1.43561659
44MP0004742_abnormal_vestibular_system1.41869534
45MP0003787_abnormal_imprinting1.40003251
46MP0005645_abnormal_hypothalamus_physiol1.38157843
47MP0003633_abnormal_nervous_system1.37884369
48MP0001984_abnormal_olfaction1.36798616
49MP0003121_genomic_imprinting1.34865131
50MP0001502_abnormal_circadian_rhythm1.34777409
51MP0001986_abnormal_taste_sensitivity1.34297604
52MP0002909_abnormal_adrenal_gland1.32791989
53MP0003122_maternal_imprinting1.29893791
54MP0003631_nervous_system_phenotype1.24944372
55MP0002152_abnormal_brain_morphology1.19718148
56MP0002102_abnormal_ear_morphology1.19507411
57MP0003632_abnormal_nervous_system1.16808550
58MP0000920_abnormal_myelination1.13591112
59MP0000569_abnormal_digit_pigmentation1.13576966
60MP0002229_neurodegeneration1.11147374
61MP0005551_abnormal_eye_electrophysiolog1.07734866
62MP0005171_absent_coat_pigmentation1.05884966
63MP0003690_abnormal_glial_cell1.04875189
64MP0001529_abnormal_vocalization1.04105841
65MP0004147_increased_porphyrin_level0.99813414
66MP0005253_abnormal_eye_physiology0.99776109
67MP0001905_abnormal_dopamine_level0.95468762
68MP0002751_abnormal_autonomic_nervous0.95268155
69MP0000566_synostosis0.93328933
70MP0008872_abnormal_physiological_respon0.91808904
71MP0003634_abnormal_glial_cell0.91767592
72MP0001963_abnormal_hearing_physiology0.91660475
73MP0000751_myopathy0.90207476
74MP0002069_abnormal_eating/drinking_beha0.87497237
75MP0002653_abnormal_ependyma_morphology0.87437859
76MP0002752_abnormal_somatic_nervous0.85671704
77MP0001177_atelectasis0.84091850
78MP0001485_abnormal_pinna_reflex0.81710578
79MP0004085_abnormal_heartbeat0.79953676
80MP0003137_abnormal_impulse_conducting0.79194453
81MP0002638_abnormal_pupillary_reflex0.79133903
82MP0004215_abnormal_myocardial_fiber0.78453250
83MP0000631_abnormal_neuroendocrine_gland0.74708253
84MP0003136_yellow_coat_color0.74617152
85MP0005187_abnormal_penis_morphology0.74316671
86MP0001299_abnormal_eye_distance/0.74002750
87MP0003123_paternal_imprinting0.73543850
88MP0008874_decreased_physiological_sensi0.73438423
89MP0004043_abnormal_pH_regulation0.73052662
90MP0005394_taste/olfaction_phenotype0.71139705
91MP0005499_abnormal_olfactory_system0.71139705
92MP0000013_abnormal_adipose_tissue0.69559220
93MP0004133_heterotaxia0.68723636
94MP0005535_abnormal_body_temperature0.67558121
95MP0003119_abnormal_digestive_system0.66536848
96MP0004484_altered_response_of0.65962370
97MP0000604_amyloidosis0.65782375
98MP0010769_abnormal_survival0.65615735
99MP0003283_abnormal_digestive_organ0.65295554
100MP0010770_preweaning_lethality0.64501959
101MP0002082_postnatal_lethality0.64501959
102MP0000049_abnormal_middle_ear0.64372179
103MP0008789_abnormal_olfactory_epithelium0.64182815
104MP0003861_abnormal_nervous_system0.62798323
105MP0002234_abnormal_pharynx_morphology0.62269889
106MP0010768_mortality/aging0.62217694
107MP0001943_abnormal_respiration0.61520238
108MP0005623_abnormal_meninges_morphology0.61431331
109MP0003868_abnormal_feces_composition0.59521933
110MP0006072_abnormal_retinal_apoptosis0.59462247
111MP0010386_abnormal_urinary_bladder0.55296263
112MP0005409_darkened_coat_color0.55122458
113MP0000026_abnormal_inner_ear0.52934764
114MP0003646_muscle_fatigue0.52685386
115MP0002089_abnormal_postnatal_growth/wei0.52314540
116MP0002090_abnormal_vision0.51791950

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.33039356
2Myokymia (HP:0002411)5.72056726
3Focal seizures (HP:0007359)5.63073308
4Progressive cerebellar ataxia (HP:0002073)5.59118783
5Action tremor (HP:0002345)5.24124154
6Atonic seizures (HP:0010819)5.20479440
7Visual hallucinations (HP:0002367)5.14540520
8Febrile seizures (HP:0002373)4.81008617
9Epileptic encephalopathy (HP:0200134)4.67949565
10Gaze-evoked nystagmus (HP:0000640)4.46233266
11Absence seizures (HP:0002121)4.18923023
12Scanning speech (HP:0002168)4.14384290
13Broad-based gait (HP:0002136)4.00136798
14Dialeptic seizures (HP:0011146)3.83555656
15Dysdiadochokinesis (HP:0002075)3.78968601
16Generalized tonic-clonic seizures (HP:0002069)3.59004694
17Truncal ataxia (HP:0002078)3.56891483
18Dysmetric saccades (HP:0000641)3.40602626
19Impaired smooth pursuit (HP:0007772)3.36262970
20Poor eye contact (HP:0000817)3.27537105
21Dysmetria (HP:0001310)3.26910154
22Supranuclear gaze palsy (HP:0000605)3.25239943
23Abnormality of the labia minora (HP:0012880)3.22253046
24Ankle clonus (HP:0011448)3.22059855
25Intention tremor (HP:0002080)3.21190753
26Genetic anticipation (HP:0003743)3.20639925
27Hyperventilation (HP:0002883)3.13456850
28Hemiplegia (HP:0002301)3.11972459
29Abnormality of ocular smooth pursuit (HP:0000617)3.08023151
30Abnormal eating behavior (HP:0100738)3.07438386
31Hemiparesis (HP:0001269)3.04972409
32Impaired social interactions (HP:0000735)3.02054445
33Abnormal social behavior (HP:0012433)3.02054445
34Abnormality of binocular vision (HP:0011514)2.96744456
35Diplopia (HP:0000651)2.96744456
36Depression (HP:0000716)2.93980346
37Gait imbalance (HP:0002141)2.87553840
38Impaired vibration sensation in the lower limbs (HP:0002166)2.86276255
39Postural instability (HP:0002172)2.81784367
40Absent speech (HP:0001344)2.81385028
41Urinary bladder sphincter dysfunction (HP:0002839)2.78493831
42Abnormality of the corticospinal tract (HP:0002492)2.78185060
43Anxiety (HP:0000739)2.73311567
44Spastic gait (HP:0002064)2.72812484
45Mutism (HP:0002300)2.71617500
46Degeneration of the lateral corticospinal tracts (HP:0002314)2.69316289
47Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.69316289
48Abnormality of the lower motor neuron (HP:0002366)2.65190780
49Status epilepticus (HP:0002133)2.62449795
50Drooling (HP:0002307)2.59803619
51Excessive salivation (HP:0003781)2.59803619
52Postural tremor (HP:0002174)2.56255813
53Progressive inability to walk (HP:0002505)2.54228011
54Fetal akinesia sequence (HP:0001989)2.50005100
55Agitation (HP:0000713)2.44879977
56Abnormality of saccadic eye movements (HP:0000570)2.40379183
57Pheochromocytoma (HP:0002666)2.38879318
58Split foot (HP:0001839)2.38437159
59Urinary urgency (HP:0000012)2.38109919
60Inability to walk (HP:0002540)2.37041378
61Congenital primary aphakia (HP:0007707)2.27960749
62Bradykinesia (HP:0002067)2.27756802
63Amblyopia (HP:0000646)2.25493309
64Amyotrophic lateral sclerosis (HP:0007354)2.25193750
65Limb dystonia (HP:0002451)2.24918117
66Spastic tetraplegia (HP:0002510)2.23782070
67Tetraplegia (HP:0002445)2.23565344
68Epileptiform EEG discharges (HP:0011182)2.23308209
69Medial flaring of the eyebrow (HP:0010747)2.23140639
70Sleep apnea (HP:0010535)2.22300477
71Stereotypic behavior (HP:0000733)2.19954800
72Akinesia (HP:0002304)2.19805971
73Gait ataxia (HP:0002066)2.19513405
74Retinal dysplasia (HP:0007973)2.19034479
75Optic nerve hypoplasia (HP:0000609)2.18871018
76Horizontal nystagmus (HP:0000666)2.18851412
77EEG with generalized epileptiform discharges (HP:0011198)2.18661015
78Termporal pattern (HP:0011008)2.14726893
79Insidious onset (HP:0003587)2.14726893
80Ventricular fibrillation (HP:0001663)2.13943611
81Neuronal loss in central nervous system (HP:0002529)2.12816338
82Nephrogenic diabetes insipidus (HP:0009806)2.09877394
83Esotropia (HP:0000565)2.09741552
84Hypsarrhythmia (HP:0002521)2.09334293
85Lissencephaly (HP:0001339)2.08260695
86Vaginal atresia (HP:0000148)2.06733075
87Hepatoblastoma (HP:0002884)2.05953204
88Genital tract atresia (HP:0001827)2.05314758
89Megalencephaly (HP:0001355)2.01546894
90Polyphagia (HP:0002591)2.01368045
91Impaired vibratory sensation (HP:0002495)2.01227590
92Lower limb muscle weakness (HP:0007340)2.00790125
93Torticollis (HP:0000473)2.00251429
94Neuroendocrine neoplasm (HP:0100634)1.99327152
95Limb ataxia (HP:0002070)1.97825563
96Clonus (HP:0002169)1.95310237
97Neurofibrillary tangles (HP:0002185)1.93908683
98Failure to thrive in infancy (HP:0001531)1.92716900
99Papilledema (HP:0001085)1.92303477
100Blue irides (HP:0000635)1.91903743
101Aqueductal stenosis (HP:0002410)1.91110217
102Annular pancreas (HP:0001734)1.91078128
103Septo-optic dysplasia (HP:0100842)1.90502524
104Morphological abnormality of the pyramidal tract (HP:0002062)1.88712476
105Psychosis (HP:0000709)1.88403437
106Peripheral hypomyelination (HP:0007182)1.88359674
107Incomplete penetrance (HP:0003829)1.87372029
108Focal dystonia (HP:0004373)1.86724446
109Cerebral hypomyelination (HP:0006808)1.83482012
110Lower limb asymmetry (HP:0100559)1.82611521
111Hypoplasia of the corpus callosum (HP:0002079)1.82326917
112Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.80331038
113Generalized myoclonic seizures (HP:0002123)1.80314007
114Specific learning disability (HP:0001328)1.79943298
115Pointed chin (HP:0000307)1.79933427
116Muscular hypotonia of the trunk (HP:0008936)1.79563431
117Spastic tetraparesis (HP:0001285)1.78155924
118Type II lissencephaly (HP:0007260)1.77515359
119Intestinal atresia (HP:0011100)1.77433275
120Thickened helices (HP:0000391)1.75423802
121Hypothermia (HP:0002045)1.74473021
122Protruding tongue (HP:0010808)1.74343349
123Slow progression (HP:0003677)1.74049734
124Alacrima (HP:0000522)1.72105993
125Cerebral inclusion bodies (HP:0100314)1.71909534
126Increased circulating renin level (HP:0000848)1.71477317
127Ulnar claw (HP:0001178)1.70854734
128Abnormality of salivation (HP:0100755)1.69984338
129Poor suck (HP:0002033)1.69859073
130Rigidity (HP:0002063)1.69372748
131Aplasia/Hypoplasia of the brainstem (HP:0007362)1.69258112
132Hypoplasia of the brainstem (HP:0002365)1.69258112
133Pachygyria (HP:0001302)1.65723519
134Decreased lacrimation (HP:0000633)1.64388079
135Poor coordination (HP:0002370)1.64193500

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.07475818
2MARK13.59423858
3MAP3K43.12658605
4MAP3K93.08455204
5CASK2.95807833
6NTRK22.73010696
7MINK12.64896993
8MAP2K72.57475616
9EPHA42.42622662
10CAMKK22.40649877
11PAK62.29012364
12PNCK2.21432919
13DAPK22.17337309
14CAMKK11.96321943
15MAP2K41.96175569
16CDK191.91396141
17FRK1.83783911
18TNIK1.75111868
19MAP3K121.67574399
20MAPK131.61065262
21PRPF4B1.60870108
22WNK11.58677204
23STK381.47460625
24NTRK11.46995686
25CDK51.40608311
26DYRK21.33266868
27SGK2231.30047228
28SGK4941.30047228
29OXSR11.29916705
30KSR11.29730931
31PLK21.27970082
32UHMK11.26959957
33RIPK11.26155776
34KSR21.23662043
35TRIM281.23511584
36FES1.20121731
37SGK21.18030362
38PHKG11.17856384
39PHKG21.17856384
40SIK21.16555235
41GRK51.16366422
42RIPK41.15995981
43TYRO31.15477155
44CAMK1G1.15108800
45CSNK1G21.11989696
46DAPK11.08219320
47* PRKCG1.05540573
48STK111.02096587
49CAMK2A1.00297039
50CAMK11.00294232
51EPHA30.98875734
52SGK30.98865169
53PINK10.95247088
54PRKD30.92952252
55PRKCH0.91241667
56CDK180.90216808
57CDK150.89337726
58STK38L0.88589192
59CAMK2B0.84383690
60INSRR0.82313312
61MKNK20.81516357
62CDK140.81460175
63DYRK1A0.78918660
64CDK11A0.77493782
65BMPR1B0.75270010
66ALK0.74444598
67TSSK60.73670678
68CSNK1G30.72664713
69SGK10.71661831
70MAP4K20.71182415
71RET0.70625002
72CSNK1A1L0.69699784
73PAK30.68118411
74LATS20.67331794
75MARK20.66726071
76CAMK40.65942618
77BRD40.62899626
78RPS6KA40.60858053
79CAMK2D0.59159352
80AKT30.58747905
81CDC42BPA0.57675658
82ARAF0.57607590
83LMTK20.57487026
84ROCK20.57477731
85MAPKAPK50.55095037
86RPS6KA30.53890672
87PRKCE0.53879557
88TNK20.53461246
89PKN10.53049661
90MAP3K20.52072464
91TAOK10.51513073
92ADRBK20.51224811
93NEK60.50867738
94PRKG10.50819848
95CSNK1D0.48984874
96CCNB10.48543163
97PRKCZ0.48151715
98WNK30.47592131
99FYN0.47195763
100PDK10.47111751
101STK390.46213566
102* CAMK2G0.45495880
103FER0.45487296
104ERBB30.42175204
105PDPK10.41970164
106FGFR20.40991576
107ERBB20.40425029
108CSNK1E0.40260914
109CSNK1G10.39891630
110MAPK100.38896976
111GRK10.38566975
112BCR0.37910421
113PRKCB0.35765490
114DYRK30.35636844
115* PRKACA0.34956149
116MAP3K130.34620608
117CDK30.33996116
118CSNK1A10.33539476
119SCYL20.33050598
120PRKDC0.32645716
121RPS6KB10.32458692
122* PRKCA0.31522822
123GSK3B0.28605323

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.14206668
2Synaptic vesicle cycle_Homo sapiens_hsa047213.37244106
3GABAergic synapse_Homo sapiens_hsa047272.92413588
4* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.80533214
5* Glutamatergic synapse_Homo sapiens_hsa047242.79218434
6Long-term potentiation_Homo sapiens_hsa047202.67960856
7* Circadian entrainment_Homo sapiens_hsa047132.61680404
8Morphine addiction_Homo sapiens_hsa050322.57055123
9Salivary secretion_Homo sapiens_hsa049702.26658450
10Olfactory transduction_Homo sapiens_hsa047402.25677879
11Long-term depression_Homo sapiens_hsa047302.24299637
12Taste transduction_Homo sapiens_hsa047422.17917472
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.11861263
14* Amphetamine addiction_Homo sapiens_hsa050312.11005266
15* Dopaminergic synapse_Homo sapiens_hsa047281.96479672
16Insulin secretion_Homo sapiens_hsa049111.93097338
17Gastric acid secretion_Homo sapiens_hsa049711.87784260
18Cholinergic synapse_Homo sapiens_hsa047251.79542107
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75017759
20Serotonergic synapse_Homo sapiens_hsa047261.70730387
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.65492536
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63090430
23Renin secretion_Homo sapiens_hsa049241.59798516
24Oxytocin signaling pathway_Homo sapiens_hsa049211.57186339
25Cocaine addiction_Homo sapiens_hsa050301.54067996
26Calcium signaling pathway_Homo sapiens_hsa040201.49324529
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.40089972
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37937164
29Collecting duct acid secretion_Homo sapiens_hsa049661.37281838
30Gap junction_Homo sapiens_hsa045401.36319122
31GnRH signaling pathway_Homo sapiens_hsa049121.29901883
32Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26942827
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26349593
34Type II diabetes mellitus_Homo sapiens_hsa049301.25010816
35* cAMP signaling pathway_Homo sapiens_hsa040241.22150850
36Estrogen signaling pathway_Homo sapiens_hsa049151.17853992
37Axon guidance_Homo sapiens_hsa043601.11030511
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10863413
39Cardiac muscle contraction_Homo sapiens_hsa042601.09042604
40* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06301193
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00984911
42Pancreatic secretion_Homo sapiens_hsa049721.00806419
43Vitamin B6 metabolism_Homo sapiens_hsa007501.00106169
44ErbB signaling pathway_Homo sapiens_hsa040120.95589902
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.93946019
46Thyroid hormone synthesis_Homo sapiens_hsa049180.90158213
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89784961
48Melanogenesis_Homo sapiens_hsa049160.88894771
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.87017538
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.85811306
51Glioma_Homo sapiens_hsa052140.85546792
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.84643684
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.83633615
54Oocyte meiosis_Homo sapiens_hsa041140.81789354
55Phototransduction_Homo sapiens_hsa047440.80957580
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.80168260
57Vibrio cholerae infection_Homo sapiens_hsa051100.77480447
58Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77402589
59Regulation of autophagy_Homo sapiens_hsa041400.76377370
60Dilated cardiomyopathy_Homo sapiens_hsa054140.75936847
61Dorso-ventral axis formation_Homo sapiens_hsa043200.75930717
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74486992
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72613071
64MAPK signaling pathway_Homo sapiens_hsa040100.71836357
65Nitrogen metabolism_Homo sapiens_hsa009100.71787298
66Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70728304
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68924641
68beta-Alanine metabolism_Homo sapiens_hsa004100.68911530
69Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68190006
70Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67304409
71Choline metabolism in cancer_Homo sapiens_hsa052310.66233130
72Inositol phosphate metabolism_Homo sapiens_hsa005620.63285155
73Bile secretion_Homo sapiens_hsa049760.63139696
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58757572
75Propanoate metabolism_Homo sapiens_hsa006400.57730876
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.55726404
77Circadian rhythm_Homo sapiens_hsa047100.55123998
78Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54557207
79Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54079921
80Oxidative phosphorylation_Homo sapiens_hsa001900.50648808
81Endometrial cancer_Homo sapiens_hsa052130.50582872
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49806222
83Ether lipid metabolism_Homo sapiens_hsa005650.49587027
84Alcoholism_Homo sapiens_hsa050340.49073851
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48380695
86Ras signaling pathway_Homo sapiens_hsa040140.46797919
87Sphingolipid signaling pathway_Homo sapiens_hsa040710.46433085
88Rap1 signaling pathway_Homo sapiens_hsa040150.46195918
89Protein export_Homo sapiens_hsa030600.44327830
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43182297
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42456113
92mTOR signaling pathway_Homo sapiens_hsa041500.41998152
93Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41375509
94Endocytosis_Homo sapiens_hsa041440.40997327
95Wnt signaling pathway_Homo sapiens_hsa043100.40570971
96Renal cell carcinoma_Homo sapiens_hsa052110.40418274
97Glucagon signaling pathway_Homo sapiens_hsa049220.40078132
98Ovarian steroidogenesis_Homo sapiens_hsa049130.39608471
99Alzheimers disease_Homo sapiens_hsa050100.37593250
100Parkinsons disease_Homo sapiens_hsa050120.37277590
101VEGF signaling pathway_Homo sapiens_hsa043700.35913934
102Hippo signaling pathway_Homo sapiens_hsa043900.35354438
103Type I diabetes mellitus_Homo sapiens_hsa049400.33240185
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33195780
105Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.33167194
106SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32927271
107Histidine metabolism_Homo sapiens_hsa003400.32256125
108AMPK signaling pathway_Homo sapiens_hsa041520.29489821
109Fatty acid biosynthesis_Homo sapiens_hsa000610.28931456
110Tight junction_Homo sapiens_hsa045300.28915815
111Fatty acid metabolism_Homo sapiens_hsa012120.28778277
112Colorectal cancer_Homo sapiens_hsa052100.27530756
113Butanoate metabolism_Homo sapiens_hsa006500.26121644
114ABC transporters_Homo sapiens_hsa020100.26112804
115Insulin signaling pathway_Homo sapiens_hsa049100.26076349
116Melanoma_Homo sapiens_hsa052180.25979992
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.25805900
118Chemokine signaling pathway_Homo sapiens_hsa040620.25531770
119Hedgehog signaling pathway_Homo sapiens_hsa043400.24988300
120Non-small cell lung cancer_Homo sapiens_hsa052230.24591293
121Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.22696012

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