REEP2

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: This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.08143537
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.63021039
3synaptic vesicle maturation (GO:0016188)5.62140538
4synaptic vesicle exocytosis (GO:0016079)5.53761822
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.13400111
6vocalization behavior (GO:0071625)5.13376912
7regulation of synaptic vesicle exocytosis (GO:2000300)5.10419481
8glutamate secretion (GO:0014047)5.09927850
9locomotory exploration behavior (GO:0035641)5.08791149
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.98090298
11protein localization to synapse (GO:0035418)4.84638950
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.76076758
13neuronal action potential propagation (GO:0019227)4.75335092
14neuron cell-cell adhesion (GO:0007158)4.52558238
15regulation of synaptic vesicle transport (GO:1902803)4.51820595
16regulation of glutamate receptor signaling pathway (GO:1900449)4.51266555
17neurotransmitter secretion (GO:0007269)4.45545020
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.32917444
19synaptic transmission, glutamatergic (GO:0035249)4.17904965
20exploration behavior (GO:0035640)4.16706154
21neuronal ion channel clustering (GO:0045161)4.14359290
22regulation of neuronal synaptic plasticity (GO:0048168)4.10576425
23layer formation in cerebral cortex (GO:0021819)4.06432214
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.03863957
25glutamate receptor signaling pathway (GO:0007215)4.00979798
26cellular potassium ion homeostasis (GO:0030007)4.00296438
27pyrimidine nucleobase catabolic process (GO:0006208)3.99778804
28neuron-neuron synaptic transmission (GO:0007270)3.95781439
29presynaptic membrane organization (GO:0097090)3.93666548
30establishment of mitochondrion localization (GO:0051654)3.90740286
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.89297576
32regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.88784120
33proline transport (GO:0015824)3.87952837
34gamma-aminobutyric acid transport (GO:0015812)3.87829873
35cerebellar Purkinje cell differentiation (GO:0021702)3.84780774
36positive regulation of dendritic spine development (GO:0060999)3.83636891
37neurotransmitter-gated ion channel clustering (GO:0072578)3.82085133
38regulation of synapse structural plasticity (GO:0051823)3.80267624
39positive regulation of synapse maturation (GO:0090129)3.77996952
40axon ensheathment in central nervous system (GO:0032291)3.73671793
41central nervous system myelination (GO:0022010)3.73671793
42synaptic vesicle endocytosis (GO:0048488)3.71673089
43sodium ion export (GO:0071436)3.69139586
44positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.64710463
45neurotransmitter transport (GO:0006836)3.62816123
46regulation of neurotransmitter secretion (GO:0046928)3.58005826
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.57810672
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.55998918
49positive regulation of membrane potential (GO:0045838)3.54405056
50long-term memory (GO:0007616)3.51840714
51membrane depolarization during action potential (GO:0086010)3.51192739
52positive regulation of synaptic transmission, GABAergic (GO:0032230)3.50433214
53neuromuscular process controlling posture (GO:0050884)3.50068509
54positive regulation of dendritic spine morphogenesis (GO:0061003)3.49819734
55regulation of postsynaptic membrane potential (GO:0060078)3.48419101
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.48160860
57response to pheromone (GO:0019236)3.47213541
58regulation of voltage-gated calcium channel activity (GO:1901385)3.45783116
59activation of protein kinase A activity (GO:0034199)3.43280715
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43043729
61dendritic spine organization (GO:0097061)3.41928465
62neuron recognition (GO:0008038)3.40237692
63G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.37543718
64regulation of vesicle fusion (GO:0031338)3.36711126
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.34857147
66innervation (GO:0060384)3.34194933
67regulation of neurotransmitter levels (GO:0001505)3.33906537
68negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.32442367
69potassium ion homeostasis (GO:0055075)3.32167704
70postsynaptic membrane organization (GO:0001941)3.29867029
71regulation of synaptic plasticity (GO:0048167)3.29845517
72nucleobase catabolic process (GO:0046113)3.29587271
73regulation of neurotransmitter transport (GO:0051588)3.29498641
74transmission of nerve impulse (GO:0019226)3.28136299
75cell communication by electrical coupling (GO:0010644)3.27692353
76neuromuscular synaptic transmission (GO:0007274)3.26951532
77dendritic spine morphogenesis (GO:0060997)3.25927167
78cell migration in hindbrain (GO:0021535)3.25223631
79membrane hyperpolarization (GO:0060081)3.24339042
80potassium ion import (GO:0010107)3.20939472
81regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.19966155
82cerebellar granule cell differentiation (GO:0021707)3.19609980
83L-amino acid import (GO:0043092)3.19353315
84membrane depolarization (GO:0051899)3.19250726
85positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.19192651
86negative regulation of synaptic transmission, GABAergic (GO:0032229)3.18457749
87positive regulation of neurotransmitter transport (GO:0051590)3.17114298
88neuromuscular process controlling balance (GO:0050885)3.16953920
89mitochondrion transport along microtubule (GO:0047497)3.16736432
90establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.16736432
91mechanosensory behavior (GO:0007638)3.15703573
92positive regulation of neurotransmitter secretion (GO:0001956)3.15541469
93positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.14454367
94adult walking behavior (GO:0007628)3.12555843
95long-term synaptic potentiation (GO:0060291)3.08700083
96amino acid import (GO:0043090)3.07484733
97auditory behavior (GO:0031223)3.07391845
98axonal fasciculation (GO:0007413)3.06258696
99calcium ion-dependent exocytosis (GO:0017156)3.06154310
100regulation of dendritic spine development (GO:0060998)3.04455069
101regulation of dendritic spine morphogenesis (GO:0061001)3.03369971
102synapse assembly (GO:0007416)3.03263963
103response to auditory stimulus (GO:0010996)3.03104056
104negative regulation of microtubule polymerization (GO:0031115)3.02249337
105dendrite morphogenesis (GO:0048813)3.01734796
106regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.01723313
107prepulse inhibition (GO:0060134)3.00790102
108acidic amino acid transport (GO:0015800)2.99668234
109synaptic transmission (GO:0007268)2.98986074
110positive regulation of potassium ion transmembrane transport (GO:1901381)2.97646253
111positive regulation of synapse assembly (GO:0051965)2.96273823
112behavioral defense response (GO:0002209)2.95371608
113behavioral fear response (GO:0001662)2.95371608
114cellular sodium ion homeostasis (GO:0006883)2.94871828
115vesicle transport along microtubule (GO:0047496)2.94017319
116learning (GO:0007612)2.93667547
117regulation of synaptic transmission (GO:0050804)2.91990860
118response to histamine (GO:0034776)2.91845606
119glycine transport (GO:0015816)2.90869486
120synaptic vesicle transport (GO:0048489)2.90573578
121establishment of synaptic vesicle localization (GO:0097480)2.90573578
122regulation of synapse maturation (GO:0090128)2.90528383
123positive regulation of synaptic transmission (GO:0050806)2.88571463
124presynaptic membrane assembly (GO:0097105)2.88340607
125cerebellar Purkinje cell layer development (GO:0021680)2.87384692
126substrate-independent telencephalic tangential migration (GO:0021826)2.84556216
127substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.84556216

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.09308987
2GBX2_23144817_ChIP-Seq_PC3_Human3.43795907
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05925406
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96728341
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96633696
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.91346261
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62965527
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62965527
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62622715
10SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52914508
11RARB_27405468_Chip-Seq_BRAIN_Mouse2.50217576
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49408263
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.46010419
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45752475
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.42141446
16* REST_18959480_ChIP-ChIP_MESCs_Mouse2.40793596
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.39283294
18DROSHA_22980978_ChIP-Seq_HELA_Human2.38763899
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36593461
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.29552550
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28282306
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.26551064
23TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.20250515
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.16557557
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.15466138
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.14892090
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09730050
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.03445357
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.93584290
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85974581
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.85937852
32TAF15_26573619_Chip-Seq_HEK293_Human1.74512712
33SMAD4_21799915_ChIP-Seq_A2780_Human1.63679051
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62846172
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62395718
36AR_21572438_ChIP-Seq_LNCaP_Human1.55983068
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.53255642
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.52943681
39ZNF274_21170338_ChIP-Seq_K562_Hela1.52506498
40GATA1_26923725_Chip-Seq_HPCs_Mouse1.45558931
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.41413613
42RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.41176746
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37233984
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36490164
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36250484
46SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.34029807
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31059942
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.29484961
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28560510
50P300_19829295_ChIP-Seq_ESCs_Human1.28518464
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.28406909
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27230040
53RING1B_27294783_Chip-Seq_ESCs_Mouse1.26951845
54TP53_20018659_ChIP-ChIP_R1E_Mouse1.26607911
55RNF2_27304074_Chip-Seq_NSC_Mouse1.26116379
56AR_25329375_ChIP-Seq_VCAP_Human1.23540748
57STAT3_23295773_ChIP-Seq_U87_Human1.22401797
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20517768
59AR_19668381_ChIP-Seq_PC3_Human1.18134117
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17398520
61ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14688081
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.14655691
63DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13660602
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12150142
65IGF1R_20145208_ChIP-Seq_DFB_Human1.11908544
66MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09037243
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.08667399
68SMAD_19615063_ChIP-ChIP_OVARY_Human1.08296991
69RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.08033315
70SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.08007744
71TCF4_23295773_ChIP-Seq_U87_Human1.07436197
72SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07239783
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07041167
74SMAD3_21741376_ChIP-Seq_ESCs_Human1.06799565
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06042415
76ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05930743
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05829047
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05773126
79GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04998958
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04707316
81SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03781309
82CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03745889
83KDM2B_26808549_Chip-Seq_K562_Human1.03554258
84YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02644149
85* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.02070465
86RING1B_27294783_Chip-Seq_NPCs_Mouse1.01441725
87* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.01328080
88ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.99300082
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95680736
90CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94870637
91OCT4_19829295_ChIP-Seq_ESCs_Human0.94553368
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94031908
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.92275328
94VDR_22108803_ChIP-Seq_LS180_Human0.92231952
95POU3F2_20337985_ChIP-ChIP_501MEL_Human0.91795451
96* TET1_21490601_ChIP-Seq_MESCs_Mouse0.91778192
97TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91600348
98RUNX2_22187159_ChIP-Seq_PCA_Human0.91278408
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.91045417
100PRDM14_20953172_ChIP-Seq_ESCs_Human0.90671712
101POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90325290
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90325290
103CTCF_27219007_Chip-Seq_Bcells_Human0.90027201
104FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.89386864
105SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88387458
106AHR_22903824_ChIP-Seq_MCF-7_Human0.88320697
107TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.87520600
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87444576
109WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.86709593
110* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.85156638
111NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.85076850
112SMAD4_21741376_ChIP-Seq_EPCs_Human0.83101549
113OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.82808728
114JUN_21703547_ChIP-Seq_K562_Human0.81597988
115EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.80557933
116TET1_21451524_ChIP-Seq_MESCs_Mouse0.79088298
117SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78883049
118SMC4_20622854_ChIP-Seq_HELA_Human0.78606825
119P68_20966046_ChIP-Seq_HELA_Human0.77537843
120RUNX1_26923725_Chip-Seq_HPCs_Mouse0.76775089
121MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.75743652
122PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.75473473
123* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.74321512
124SOX9_26525672_Chip-Seq_HEART_Mouse0.74226179
125KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.74185555
126DPY_21335234_ChIP-Seq_ESCs_Mouse0.73764376
127RBPJ_22232070_ChIP-Seq_NCS_Mouse0.73186872
128SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.72197958
129KLF4_19829295_ChIP-Seq_ESCs_Human0.71788639
130* SOX3_22085726_ChIP-Seq_NPCs_Mouse0.69509153
131LXR_22292898_ChIP-Seq_THP-1_Human0.69469880

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.76698133
2MP0003880_abnormal_central_pattern4.47043725
3MP0003635_abnormal_synaptic_transmissio3.92663501
4MP0004270_analgesia3.75785653
5MP0001968_abnormal_touch/_nociception3.56260956
6MP0009745_abnormal_behavioral_response3.19379426
7MP0009046_muscle_twitch3.12941112
8MP0002063_abnormal_learning/memory/cond3.12823640
9MP0002064_seizures2.98194558
10MP0002734_abnormal_mechanical_nocicepti2.92848219
11MP0002735_abnormal_chemical_nociception2.91837403
12MP0002736_abnormal_nociception_after2.87829115
13MP0005423_abnormal_somatic_nervous2.73558142
14MP0002572_abnormal_emotion/affect_behav2.69693600
15MP0002272_abnormal_nervous_system2.69212279
16MP0002733_abnormal_thermal_nociception2.38438822
17MP0001486_abnormal_startle_reflex2.33362193
18MP0002822_catalepsy2.25214348
19MP0001970_abnormal_pain_threshold2.21976654
20MP0001440_abnormal_grooming_behavior2.21148751
21MP0006276_abnormal_autonomic_nervous2.20758104
22MP0002067_abnormal_sensory_capabilities2.13043511
23MP0004858_abnormal_nervous_system2.08104126
24MP0002184_abnormal_innervation2.04450981
25MP0001501_abnormal_sleep_pattern2.02701209
26MP0008569_lethality_at_weaning1.91730565
27MP0003329_amyloid_beta_deposits1.83294567
28MP0004811_abnormal_neuron_physiology1.77301844
29MP0005646_abnormal_pituitary_gland1.75233397
30MP0002557_abnormal_social/conspecific_i1.74063916
31MP0000778_abnormal_nervous_system1.73761652
32MP0001984_abnormal_olfaction1.73209348
33MP0004924_abnormal_behavior1.71281037
34MP0005386_behavior/neurological_phenoty1.71281037
35MP0003879_abnormal_hair_cell1.65774844
36MP0000955_abnormal_spinal_cord1.64029668
37MP0009780_abnormal_chondrocyte_physiolo1.60848783
38MP0002909_abnormal_adrenal_gland1.59866260
39MP0003123_paternal_imprinting1.54129635
40MP0006292_abnormal_olfactory_placode1.48892041
41MP0003787_abnormal_imprinting1.48775388
42MP0002882_abnormal_neuron_morphology1.47310350
43MP0001529_abnormal_vocalization1.46074341
44MP0005645_abnormal_hypothalamus_physiol1.44042432
45MP0001502_abnormal_circadian_rhythm1.42838998
46MP0002066_abnormal_motor_capabilities/c1.38219055
47MP0003122_maternal_imprinting1.36420659
48MP0004142_abnormal_muscle_tone1.34492387
49MP0010386_abnormal_urinary_bladder1.32807880
50MP0001905_abnormal_dopamine_level1.31162590
51MP0004145_abnormal_muscle_electrophysio1.25127586
52MP0004885_abnormal_endolymph1.24714458
53MP0003633_abnormal_nervous_system1.22627682
54MP0005551_abnormal_eye_electrophysiolog1.13295755
55MP0000751_myopathy1.12645991
56MP0002152_abnormal_brain_morphology1.10226246
57MP0003631_nervous_system_phenotype1.08154424
58MP0002229_neurodegeneration1.08126310
59MP0005410_abnormal_fertilization1.02446801
60MP0001188_hyperpigmentation1.00159817
61MP0004742_abnormal_vestibular_system0.98367658
62MP0008872_abnormal_physiological_respon0.95978532
63MP0000013_abnormal_adipose_tissue0.94315628
64MP0002249_abnormal_larynx_morphology0.91918951
65MP0008877_abnormal_DNA_methylation0.91457602
66MP0003938_abnormal_ear_development0.90676438
67MP0000026_abnormal_inner_ear0.90345821
68MP0002234_abnormal_pharynx_morphology0.89668549
69MP0001986_abnormal_taste_sensitivity0.89147484
70MP0000631_abnormal_neuroendocrine_gland0.88961900
71MP0000049_abnormal_middle_ear0.88800806
72MP0002752_abnormal_somatic_nervous0.88470224
73MP0002069_abnormal_eating/drinking_beha0.87709300
74MP0004133_heterotaxia0.87699832
75MP0002638_abnormal_pupillary_reflex0.85131597
76MP0005394_taste/olfaction_phenotype0.84856692
77MP0005499_abnormal_olfactory_system0.84856692
78MP0003634_abnormal_glial_cell0.84829094
79MP0003632_abnormal_nervous_system0.82781835
80MP0002837_dystrophic_cardiac_calcinosis0.82470617
81MP0008961_abnormal_basal_metabolism0.81000970
82MP0002653_abnormal_ependyma_morphology0.80346343
83MP0008874_decreased_physiological_sensi0.79900071
84MP0006072_abnormal_retinal_apoptosis0.79888542
85MP0001963_abnormal_hearing_physiology0.79849301
86MP0004233_abnormal_muscle_weight0.79024038
87MP0000566_synostosis0.77842035
88MP0003137_abnormal_impulse_conducting0.76899302
89MP0004085_abnormal_heartbeat0.76482740
90MP0001348_abnormal_lacrimal_gland0.75406256
91MP0000569_abnormal_digit_pigmentation0.74877425
92MP0005535_abnormal_body_temperature0.74371950
93MP0001346_abnormal_lacrimal_gland0.73864421
94MP0000604_amyloidosis0.73212736
95MP0008789_abnormal_olfactory_epithelium0.73177967
96MP0002090_abnormal_vision0.73090606
97MP0003136_yellow_coat_color0.72097900
98MP0002102_abnormal_ear_morphology0.71645380
99MP0003283_abnormal_digestive_organ0.69892885
100MP0001177_atelectasis0.68006911
101MP0003698_abnormal_male_reproductive0.67437796
102MP0004215_abnormal_myocardial_fiber0.64996905
103MP0004147_increased_porphyrin_level0.64357516
104MP0004130_abnormal_muscle_cell0.63239739
105MP0005187_abnormal_penis_morphology0.62373545
106MP0003861_abnormal_nervous_system0.62016398
107MP0009379_abnormal_foot_pigmentation0.61910916
108MP0001485_abnormal_pinna_reflex0.61756675
109MP0005253_abnormal_eye_physiology0.61168636
110MP0001664_abnormal_digestion0.61126478
111MP0002751_abnormal_autonomic_nervous0.60604028
112MP0003690_abnormal_glial_cell0.59980391
113MP0010769_abnormal_survival0.59021941
114MP0003119_abnormal_digestive_system0.58926361
115MP0003121_genomic_imprinting0.57313805
116MP0000920_abnormal_myelination0.56834966
117MP0001943_abnormal_respiration0.56377507
118MP0003646_muscle_fatigue0.56004172
119MP0001299_abnormal_eye_distance/0.55142852
120MP0005623_abnormal_meninges_morphology0.54231308
121MP0003183_abnormal_peptide_metabolism0.54174959

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.95374577
2Focal motor seizures (HP:0011153)6.93153118
3Focal seizures (HP:0007359)5.46495705
4Visual hallucinations (HP:0002367)5.12242942
5Atonic seizures (HP:0010819)4.88364198
6Epileptic encephalopathy (HP:0200134)4.71833094
7Progressive cerebellar ataxia (HP:0002073)4.59808090
8Febrile seizures (HP:0002373)4.58485294
9Action tremor (HP:0002345)4.08753716
10Absence seizures (HP:0002121)3.99201034
11Generalized tonic-clonic seizures (HP:0002069)3.75806359
12Ankle clonus (HP:0011448)3.63041308
13Dialeptic seizures (HP:0011146)3.61975043
14Supranuclear gaze palsy (HP:0000605)3.48807946
15Gaze-evoked nystagmus (HP:0000640)3.30000144
16Impaired vibration sensation in the lower limbs (HP:0002166)3.13837667
17Abnormality of the lower motor neuron (HP:0002366)3.09306019
18Depression (HP:0000716)3.08163389
19Truncal ataxia (HP:0002078)3.03202615
20Pheochromocytoma (HP:0002666)3.02737417
21Abnormal eating behavior (HP:0100738)2.99480344
22Broad-based gait (HP:0002136)2.96937808
23Dysdiadochokinesis (HP:0002075)2.95723050
24Amblyopia (HP:0000646)2.90378159
25Poor eye contact (HP:0000817)2.84685542
26Dysmetria (HP:0001310)2.80698905
27Mutism (HP:0002300)2.78245903
28Anxiety (HP:0000739)2.76550840
29Hemiparesis (HP:0001269)2.74225783
30Cerebral hypomyelination (HP:0006808)2.71528118
31Epileptiform EEG discharges (HP:0011182)2.63103757
32Termporal pattern (HP:0011008)2.62240477
33Insidious onset (HP:0003587)2.62240477
34Neuroendocrine neoplasm (HP:0100634)2.61844616
35Limb dystonia (HP:0002451)2.59702378
36Abnormal social behavior (HP:0012433)2.59296209
37Impaired social interactions (HP:0000735)2.59296209
38Genetic anticipation (HP:0003743)2.59166426
39Impaired smooth pursuit (HP:0007772)2.58610752
40Urinary urgency (HP:0000012)2.58556219
41Postural instability (HP:0002172)2.56560064
42EEG with generalized epileptiform discharges (HP:0011198)2.56315639
43Sleep apnea (HP:0010535)2.54971265
44Scanning speech (HP:0002168)2.50116062
45Polyphagia (HP:0002591)2.43932026
46Hyperventilation (HP:0002883)2.43064184
47Torticollis (HP:0000473)2.42449341
48Hypsarrhythmia (HP:0002521)2.42043625
49Akinesia (HP:0002304)2.38196200
50Abnormality of ocular smooth pursuit (HP:0000617)2.36103738
51Failure to thrive in infancy (HP:0001531)2.35032617
52Abnormality of the corticospinal tract (HP:0002492)2.33532749
53Hemiplegia (HP:0002301)2.32595406
54Lower limb muscle weakness (HP:0007340)2.30946347
55Ventricular fibrillation (HP:0001663)2.30337094
56Focal dystonia (HP:0004373)2.28408400
57Excessive salivation (HP:0003781)2.27711422
58Drooling (HP:0002307)2.27711422
59Bradykinesia (HP:0002067)2.27296139
60Progressive inability to walk (HP:0002505)2.26311956
61Fetal akinesia sequence (HP:0001989)2.26207887
62* Urinary bladder sphincter dysfunction (HP:0002839)2.24995711
63Diplopia (HP:0000651)2.24795261
64Abnormality of binocular vision (HP:0011514)2.24795261
65Dysmetric saccades (HP:0000641)2.23333906
66* Spastic gait (HP:0002064)2.22653882
67Amyotrophic lateral sclerosis (HP:0007354)2.22199525
68Split foot (HP:0001839)2.19276864
69Cerebral inclusion bodies (HP:0100314)2.18332108
70Neurofibrillary tangles (HP:0002185)2.14918500
71Papilledema (HP:0001085)2.12291439
72Hypoventilation (HP:0002791)2.11222164
73Agitation (HP:0000713)2.10366745
74Megalencephaly (HP:0001355)2.07416924
75Impaired vibratory sensation (HP:0002495)2.07073035
76Craniofacial dystonia (HP:0012179)2.06301588
77Spastic tetraplegia (HP:0002510)2.05854153
78Morphological abnormality of the pyramidal tract (HP:0002062)2.05711734
79Status epilepticus (HP:0002133)2.04780821
80Clonus (HP:0002169)2.03917208
81Intention tremor (HP:0002080)2.03794014
82Specific learning disability (HP:0001328)2.02992225
83Tetraplegia (HP:0002445)2.02759017
84Stereotypic behavior (HP:0000733)2.02636260
85Absent speech (HP:0001344)2.01788043
86CNS hypomyelination (HP:0003429)1.98245033
87Spastic tetraparesis (HP:0001285)1.95761661
88Annular pancreas (HP:0001734)1.95143892
89Gait ataxia (HP:0002066)1.93972888
90Congenital malformation of the right heart (HP:0011723)1.93841104
91Double outlet right ventricle (HP:0001719)1.93841104
92Gait imbalance (HP:0002141)1.93780070
93Delusions (HP:0000746)1.93615988
94Pointed chin (HP:0000307)1.91302682
95Neoplasm of the peripheral nervous system (HP:0100007)1.91254555
96Obstructive sleep apnea (HP:0002870)1.91254205
97Peripheral hypomyelination (HP:0007182)1.90934397
98Degeneration of the lateral corticospinal tracts (HP:0002314)1.90726942
99Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.90726942
100Abnormality of the labia minora (HP:0012880)1.89699118
101Insomnia (HP:0100785)1.89486801
102Neuronal loss in central nervous system (HP:0002529)1.89484496
103Aplasia/Hypoplasia of the brainstem (HP:0007362)1.88778648
104Hypoplasia of the brainstem (HP:0002365)1.88778648
105Incomplete penetrance (HP:0003829)1.88349989
106Inability to walk (HP:0002540)1.87722461
107Hypoplasia of the corpus callosum (HP:0002079)1.85495881
108Dynein arm defect of respiratory motile cilia (HP:0012255)1.83949213
109Absent/shortened dynein arms (HP:0200106)1.83949213
110Poor suck (HP:0002033)1.82858631
111Impaired pain sensation (HP:0007328)1.82405990
112Abnormality of pain sensation (HP:0010832)1.82405990
113Psychosis (HP:0000709)1.81473260
114Turricephaly (HP:0000262)1.81297177
115Neoplasm of the heart (HP:0100544)1.80027651
116Postural tremor (HP:0002174)1.76854873
117Ulnar claw (HP:0001178)1.74944711
118Retinal dysplasia (HP:0007973)1.74483243
119Generalized myoclonic seizures (HP:0002123)1.73644249
120Lissencephaly (HP:0001339)1.71582491
121Hand muscle atrophy (HP:0009130)1.68141721
122Aplasia involving bones of the extremities (HP:0009825)1.67129502
123Aplasia involving bones of the upper limbs (HP:0009823)1.67129502
124Aplasia of the phalanges of the hand (HP:0009802)1.67129502
125Congenital primary aphakia (HP:0007707)1.64901297

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.26731256
2MAP3K93.99571501
3EPHA43.54081169
4MAP3K43.14826874
5MARK13.04118618
6MINK12.87723055
7MAP2K72.62589685
8DAPK22.41774070
9PAK62.27790635
10MAP3K122.22558571
11KSR22.18864422
12NTRK22.10389245
13PRKD32.08732488
14CASK2.08181401
15PRPF4B2.01862355
16MAP2K41.93265963
17NTRK11.89469373
18GRK51.79228312
19CAMKK11.64026100
20MAPK131.53795818
21DYRK21.53118354
22ARAF1.48778928
23RIPK41.48325651
24KSR11.47688325
25PLK21.46052610
26CDK51.46033006
27DAPK11.41486244
28STK381.39327213
29PNCK1.38684936
30CDK191.38413232
31CAMKK21.27180477
32PRKCG1.22908993
33TYRO31.22825336
34TNIK1.18034882
35LATS21.17539812
36UHMK11.11292206
37PHKG21.09887442
38PHKG11.09887442
39SGK2231.06047234
40SGK4941.06047234
41SIK21.04859168
42LMTK21.03218964
43MAP3K21.01606394
44FES1.01141022
45CDK181.00359385
46STK160.99952663
47PKN10.97868945
48CDK140.97840371
49CDK150.97694722
50CSNK1G30.95130436
51CAMK2A0.94278587
52TAOK10.90556249
53RET0.89715675
54SGK20.87195372
55MAP3K110.86531424
56CSNK1A1L0.85417430
57CDK11A0.84641604
58BRSK10.82521994
59BCR0.81657317
60MAP3K130.79363875
61PTK2B0.77029901
62PINK10.76347450
63SCYL20.76126684
64FGFR20.75926542
65DYRK1A0.75178255
66PRKCH0.74058163
67TNK20.73465115
68CAMK10.72152967
69CSNK1G20.70599578
70STK110.69648736
71WNK10.69101077
72PAK30.68431111
73EPHB20.68055971
74CCNB10.66722103
75CSNK1G10.64761332
76BRAF0.64732381
77SGK30.64355403
78CAMK2B0.63754238
79NEK10.63456622
80DAPK30.63261549
81RAF10.62924747
82MARK20.62440717
83OXSR10.61686518
84WNK30.61215301
85CAMK40.60066897
86LIMK10.59204884
87FER0.57731606
88RIPK10.57274536
89CDC42BPA0.54904677
90PDK40.54749007
91PDK30.54749007
92SGK10.54707186
93NEK60.52393078
94MAP3K10.50472869
95PDK10.49245027
96DYRK1B0.48729844
97MAP2K10.48015689
98PRKCZ0.47282087
99PRKCE0.47073416
100SIK30.46823000
101RPS6KA20.46759278
102WNK40.46704295
103ALK0.46272141
104MAP3K60.45577430
105RPS6KA30.45543333
106BMPR20.45350581
107PDPK10.44976555
108CAMK1D0.44806693
109MAPK120.44421193
110BCKDK0.42082977
111CAMK2D0.42071321
112ADRBK10.41982500
113CAMK2G0.41595286
114ROCK20.41179768
115MAPK100.40861489
116ERBB20.40830626
117AKT30.40786308
118MUSK0.40398460
119CAMK1G0.39468266
120AURKA0.39091352
121CSNK1A10.38485189
122MAPKAPK50.38233287
123TRIM280.37435300
124PRKACA0.37139841
125CSNK1E0.36392509
126ICK0.35221946
127CSNK1D0.34359538
128TESK10.32595991
129ROCK10.31483358
130PRKCA0.31165847

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.82744368
2Synaptic vesicle cycle_Homo sapiens_hsa047213.72739518
3GABAergic synapse_Homo sapiens_hsa047272.67370336
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.65862464
5Circadian entrainment_Homo sapiens_hsa047132.61530260
6Olfactory transduction_Homo sapiens_hsa047402.61023282
7Long-term potentiation_Homo sapiens_hsa047202.56582049
8Glutamatergic synapse_Homo sapiens_hsa047242.50847047
9Morphine addiction_Homo sapiens_hsa050322.47791550
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45751859
11Amphetamine addiction_Homo sapiens_hsa050312.34242165
12Dopaminergic synapse_Homo sapiens_hsa047282.18146624
13Insulin secretion_Homo sapiens_hsa049112.13444758
14Salivary secretion_Homo sapiens_hsa049702.07447142
15Taste transduction_Homo sapiens_hsa047422.05955644
16Cholinergic synapse_Homo sapiens_hsa047251.90898044
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.80218721
18Gastric acid secretion_Homo sapiens_hsa049711.79059817
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.77715110
20Collecting duct acid secretion_Homo sapiens_hsa049661.74904370
21Long-term depression_Homo sapiens_hsa047301.72029199
22Serotonergic synapse_Homo sapiens_hsa047261.65119752
23Renin secretion_Homo sapiens_hsa049241.64808103
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63744516
25Cocaine addiction_Homo sapiens_hsa050301.61058005
26Oxytocin signaling pathway_Homo sapiens_hsa049211.55509971
27Calcium signaling pathway_Homo sapiens_hsa040201.50876028
28GnRH signaling pathway_Homo sapiens_hsa049121.40285260
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39066793
30Gap junction_Homo sapiens_hsa045401.36287725
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35966310
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34679717
33Vitamin B6 metabolism_Homo sapiens_hsa007501.34471398
34cAMP signaling pathway_Homo sapiens_hsa040241.22647930
35Cardiac muscle contraction_Homo sapiens_hsa042601.18299389
36Estrogen signaling pathway_Homo sapiens_hsa049151.18234685
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17571856
38Type II diabetes mellitus_Homo sapiens_hsa049301.14663997
39Vibrio cholerae infection_Homo sapiens_hsa051101.12515748
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12507057
41Axon guidance_Homo sapiens_hsa043601.10408837
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.09426549
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.08778613
44Oocyte meiosis_Homo sapiens_hsa041141.04058534
45Glioma_Homo sapiens_hsa052141.00039678
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99176669
47Melanogenesis_Homo sapiens_hsa049160.96083608
48ErbB signaling pathway_Homo sapiens_hsa040120.95409365
49Phototransduction_Homo sapiens_hsa047440.95180315
50Dorso-ventral axis formation_Homo sapiens_hsa043200.94921109
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.88460220
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.81525262
53Pancreatic secretion_Homo sapiens_hsa049720.81141060
54Thyroid hormone synthesis_Homo sapiens_hsa049180.78814115
55Arginine and proline metabolism_Homo sapiens_hsa003300.77886348
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77675147
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74940916
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.74550776
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72976673
60Sulfur relay system_Homo sapiens_hsa041220.71747117
61Hippo signaling pathway_Homo sapiens_hsa043900.71675268
62Choline metabolism in cancer_Homo sapiens_hsa052310.69689502
63MAPK signaling pathway_Homo sapiens_hsa040100.68086861
64Circadian rhythm_Homo sapiens_hsa047100.66646422
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.66220232
66Dilated cardiomyopathy_Homo sapiens_hsa054140.62623798
67Glucagon signaling pathway_Homo sapiens_hsa049220.61257823
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58568486
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57934789
70VEGF signaling pathway_Homo sapiens_hsa043700.57475102
71Inositol phosphate metabolism_Homo sapiens_hsa005620.56744439
72Alzheimers disease_Homo sapiens_hsa050100.56411546
73beta-Alanine metabolism_Homo sapiens_hsa004100.55014527
74Alcoholism_Homo sapiens_hsa050340.54491346
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.53761790
76Ras signaling pathway_Homo sapiens_hsa040140.53438000
77Endometrial cancer_Homo sapiens_hsa052130.52218502
78Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.51613371
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50098484
80Basal cell carcinoma_Homo sapiens_hsa052170.49935381
81Endocytosis_Homo sapiens_hsa041440.49869871
82mTOR signaling pathway_Homo sapiens_hsa041500.48193928
83Butanoate metabolism_Homo sapiens_hsa006500.48032693
84Oxidative phosphorylation_Homo sapiens_hsa001900.47920699
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47555061
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46184571
87Sphingolipid signaling pathway_Homo sapiens_hsa040710.45797791
88Insulin signaling pathway_Homo sapiens_hsa049100.45503146
89Ovarian steroidogenesis_Homo sapiens_hsa049130.44860180
90Rap1 signaling pathway_Homo sapiens_hsa040150.44801437
91Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.44473873
92Bile secretion_Homo sapiens_hsa049760.43043191
93Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.42282165
94Type I diabetes mellitus_Homo sapiens_hsa049400.42171666
95Wnt signaling pathway_Homo sapiens_hsa043100.42054233
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41752126
97Parkinsons disease_Homo sapiens_hsa050120.40061905
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.39665232
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39427987
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37539672
101Renal cell carcinoma_Homo sapiens_hsa052110.36710656
102Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36508989
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36282948
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35456041
105Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35297473
106Prion diseases_Homo sapiens_hsa050200.34407299
107Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33863519
108Huntingtons disease_Homo sapiens_hsa050160.32812398
109Non-small cell lung cancer_Homo sapiens_hsa052230.32274847
110Hedgehog signaling pathway_Homo sapiens_hsa043400.31804846
111AMPK signaling pathway_Homo sapiens_hsa041520.31362818
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.31359647
113Tight junction_Homo sapiens_hsa045300.30458197
114Colorectal cancer_Homo sapiens_hsa052100.29839618
115Nitrogen metabolism_Homo sapiens_hsa009100.29375923
116Prolactin signaling pathway_Homo sapiens_hsa049170.28420223
117Central carbon metabolism in cancer_Homo sapiens_hsa052300.28027566
118Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25245939

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