SV2B

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 synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.44723025
2synaptic vesicle maturation (GO:0016188)5.99598120
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.98422832
4synaptic vesicle exocytosis (GO:0016079)5.89878965
5glutamate secretion (GO:0014047)5.79721666
6synaptic vesicle docking involved in exocytosis (GO:0016081)5.72770821
7locomotory exploration behavior (GO:0035641)5.59727653
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.58235283
9vocalization behavior (GO:0071625)5.33180083
10regulation of synaptic vesicle exocytosis (GO:2000300)5.28131921
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.20165424
12protein localization to synapse (GO:0035418)5.19923655
13regulation of glutamate receptor signaling pathway (GO:1900449)4.83657225
14regulation of synaptic vesicle transport (GO:1902803)4.74593140
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.73303071
16neuronal action potential propagation (GO:0019227)4.71488693
17amino acid import (GO:0043090)4.70448962
18regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.54997872
19glutamate receptor signaling pathway (GO:0007215)4.49017723
20synaptic transmission, glutamatergic (GO:0035249)4.45310207
21exploration behavior (GO:0035640)4.42207292
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.41088886
23neurotransmitter secretion (GO:0007269)4.37352582
24regulation of neuronal synaptic plasticity (GO:0048168)4.37255942
25neuron cell-cell adhesion (GO:0007158)4.36166912
26regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.35531111
27potassium ion homeostasis (GO:0055075)4.29508266
28cellular potassium ion homeostasis (GO:0030007)4.27533396
29potassium ion import (GO:0010107)4.24559578
30neuron-neuron synaptic transmission (GO:0007270)4.23590765
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.18511118
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.10887938
33central nervous system myelination (GO:0022010)4.08718907
34axon ensheathment in central nervous system (GO:0032291)4.08718907
35negative regulation of dendrite morphogenesis (GO:0050774)4.07011591
36neurotransmitter-gated ion channel clustering (GO:0072578)4.03895335
37positive regulation of membrane potential (GO:0045838)4.01479652
38regulation of postsynaptic membrane potential (GO:0060078)3.98694758
39long-term memory (GO:0007616)3.95734262
40neuronal ion channel clustering (GO:0045161)3.94066073
41sodium ion export (GO:0071436)3.90030184
42synaptic vesicle endocytosis (GO:0048488)3.87445323
43cellular sodium ion homeostasis (GO:0006883)3.86844446
44G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.84817558
45layer formation in cerebral cortex (GO:0021819)3.80543135
46proline transport (GO:0015824)3.79178739
47regulation of synapse maturation (GO:0090128)3.79022574
48long-term synaptic potentiation (GO:0060291)3.78296269
49gamma-aminobutyric acid signaling pathway (GO:0007214)3.78024328
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.76447669
51dendritic spine morphogenesis (GO:0060997)3.75727066
52positive regulation of synapse maturation (GO:0090129)3.73481618
53positive regulation of dendritic spine development (GO:0060999)3.71934941
54regulation of synaptic plasticity (GO:0048167)3.71120350
55regulation of neurotransmitter secretion (GO:0046928)3.70855632
56positive regulation of neurotransmitter secretion (GO:0001956)3.69475211
57regulation of synapse structural plasticity (GO:0051823)3.69378198
58innervation (GO:0060384)3.61723881
59response to histamine (GO:0034776)3.59016947
60neurotransmitter uptake (GO:0001504)3.56199610
61* neurotransmitter transport (GO:0006836)3.54302344
62cerebellar Purkinje cell differentiation (GO:0021702)3.53054653
63positive regulation of neurotransmitter transport (GO:0051590)3.51121474
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.48582747
65neuron recognition (GO:0008038)3.44581850
66positive regulation of dendritic spine morphogenesis (GO:0061003)3.42851689
67regulation of dendritic spine morphogenesis (GO:0061001)3.42132702
68membrane hyperpolarization (GO:0060081)3.40481369
69serotonin metabolic process (GO:0042428)3.40152168
70acidic amino acid transport (GO:0015800)3.39824462
71negative regulation of synaptic transmission, GABAergic (GO:0032229)3.39303246
72regulation of voltage-gated calcium channel activity (GO:1901385)3.39062328
73chemosensory behavior (GO:0007635)3.38198781
74presynaptic membrane assembly (GO:0097105)3.36352222
75regulation of synaptic transmission, glutamatergic (GO:0051966)3.35405224
76regulation of vesicle fusion (GO:0031338)3.33662252
77regulation of neurotransmitter transport (GO:0051588)3.32868525
78behavioral fear response (GO:0001662)3.32497656
79behavioral defense response (GO:0002209)3.32497656
80positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.31621046
81positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.31557920
82gamma-aminobutyric acid transport (GO:0015812)3.29988276
83retinal cone cell development (GO:0046549)3.28365309
84membrane depolarization (GO:0051899)3.28276721
85activation of protein kinase A activity (GO:0034199)3.26321062
86vesicle docking involved in exocytosis (GO:0006904)3.26109015
87regulation of neurotransmitter levels (GO:0001505)3.24368634
88detection of calcium ion (GO:0005513)3.22557547
89axonal fasciculation (GO:0007413)3.21894810
90G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.21885062
91auditory behavior (GO:0031223)3.20848056
92postsynaptic membrane organization (GO:0001941)3.20210108
93cell communication by electrical coupling (GO:0010644)3.18714138
94cell communication involved in cardiac conduction (GO:0086065)3.18162642
95membrane depolarization during action potential (GO:0086010)3.17256469
96neuromuscular process (GO:0050905)3.16226592
97fear response (GO:0042596)3.15518408
98neuromuscular synaptic transmission (GO:0007274)3.15317077
99regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.15173119
100positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.15003634
101regulation of clathrin-mediated endocytosis (GO:2000369)3.12463377
102neuromuscular process controlling balance (GO:0050885)3.12224024
103presynaptic membrane organization (GO:0097090)3.10643399
104L-amino acid import (GO:0043092)3.09802157
105positive regulation of synaptic transmission (GO:0050806)3.08701459
106long term synaptic depression (GO:0060292)3.08601804
107cerebellar granule cell differentiation (GO:0021707)3.08221480
108vesicle docking (GO:0048278)3.07709706
109synaptic transmission (GO:0007268)3.07188592
110behavioral response to cocaine (GO:0048148)3.06292094
111cell differentiation in hindbrain (GO:0021533)3.05472196
112transmission of nerve impulse (GO:0019226)3.05466907
113neuromuscular process controlling posture (GO:0050884)3.05164284
114regulation of exocytosis (GO:0017157)3.04872497
115primary amino compound metabolic process (GO:1901160)3.03530604
116learning (GO:0007612)3.02967698
117L-glutamate transport (GO:0015813)3.01571254
118regulation of synaptic transmission (GO:0050804)3.01091714
119regulation of dendritic spine development (GO:0060998)2.98630290
120vesicle transport along microtubule (GO:0047496)2.96204629
121dendritic spine organization (GO:0097061)2.94194967
122regulation of ARF protein signal transduction (GO:0032012)2.90369152
123synapse assembly (GO:0007416)2.89102582
124synaptic vesicle transport (GO:0048489)2.88818217
125establishment of synaptic vesicle localization (GO:0097480)2.88818217
126social behavior (GO:0035176)2.88184327
127intraspecies interaction between organisms (GO:0051703)2.88184327

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.79198560
2GBX2_23144817_ChIP-Seq_PC3_Human3.86083213
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12483485
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08188538
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04412954
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.74627446
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70264254
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70264254
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60548962
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.59181383
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.58788990
12DROSHA_22980978_ChIP-Seq_HELA_Human2.56510780
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53557393
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.50184820
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48108066
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.36983787
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.32211847
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.22873070
19REST_18959480_ChIP-ChIP_MESCs_Mouse2.22221824
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19826327
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.16080401
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.16004041
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.11349998
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07171595
25AR_21572438_ChIP-Seq_LNCaP_Human1.89611618
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.88982197
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.88530449
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.87092672
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.86806200
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83819038
31SMAD4_21799915_ChIP-Seq_A2780_Human1.77543548
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76909145
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.74565303
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71161809
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.69464155
36TAF15_26573619_Chip-Seq_HEK293_Human1.67317878
37* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.46940245
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.46067225
39* P300_19829295_ChIP-Seq_ESCs_Human1.45616274
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.43941346
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43632829
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.43517546
43* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33893392
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.33151987
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.33037119
46AR_25329375_ChIP-Seq_VCAP_Human1.32132640
47STAT3_23295773_ChIP-Seq_U87_Human1.29201713
48AR_19668381_ChIP-Seq_PC3_Human1.28472839
49* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28213149
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28029428
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27123066
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.26337308
53RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.25394390
54ZNF274_21170338_ChIP-Seq_K562_Hela1.24659325
55P53_22127205_ChIP-Seq_FIBROBLAST_Human1.24285380
56ZFP281_18757296_ChIP-ChIP_E14_Mouse1.23985395
57* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21762442
58TP53_16413492_ChIP-PET_HCT116_Human1.20533659
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17201831
60* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15311728
61* TCF4_23295773_ChIP-Seq_U87_Human1.13951332
62* PIAS1_25552417_ChIP-Seq_VCAP_Human1.13570142
63POU3F2_20337985_ChIP-ChIP_501MEL_Human1.13553892
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.13016265
65* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12870529
66TET1_21490601_ChIP-Seq_MESCs_Mouse1.12427333
67SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12361043
68IGF1R_20145208_ChIP-Seq_DFB_Human1.12126628
69TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11031414
70* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10192930
71FUS_26573619_Chip-Seq_HEK293_Human1.08709349
72CTNNB1_20460455_ChIP-Seq_HCT116_Human1.08328313
73RING1B_27294783_Chip-Seq_NPCs_Mouse1.08245801
74* ARNT_22903824_ChIP-Seq_MCF-7_Human1.07268520
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06043944
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05519693
77* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05518003
78* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04274307
79* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03103692
80* PRDM14_20953172_ChIP-Seq_ESCs_Human1.02578833
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02441439
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02167184
83* SMAD3_21741376_ChIP-Seq_HESCs_Human0.99753182
84TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99273137
85ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99250272
86RNF2_27304074_Chip-Seq_NSC_Mouse0.98788335
87VDR_22108803_ChIP-Seq_LS180_Human0.97529296
88KDM2B_26808549_Chip-Seq_K562_Human0.97449618
89* AHR_22903824_ChIP-Seq_MCF-7_Human0.97151407
90GATA1_26923725_Chip-Seq_HPCs_Mouse0.96742888
91SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96394388
92RUNX2_22187159_ChIP-Seq_PCA_Human0.96026041
93NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95432974
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95072709
95UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.94930467
96EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94604525
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94592184
98WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94566309
99POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94238910
100TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94238910
101VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93917743
102* SMAD3_21741376_ChIP-Seq_ESCs_Human0.93796930
103TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93501046
104ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93393193
105CTCF_27219007_Chip-Seq_Bcells_Human0.93174878
106RXR_22108803_ChIP-Seq_LS180_Human0.92901913
107BCAT_22108803_ChIP-Seq_LS180_Human0.92868430
108NANOG_18555785_Chip-Seq_ESCs_Mouse0.91850291
109RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91756076
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91527118
111TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91523557
112GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88992036
113ESR2_21235772_ChIP-Seq_MCF-7_Human0.87704038
114DPY_21335234_ChIP-Seq_ESCs_Mouse0.86572778
115OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84923356
116LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82952464
117SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82751890
118CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.79477729
119KDM2B_26808549_Chip-Seq_REH_Human0.79073959
120OCT4_19829295_ChIP-Seq_ESCs_Human0.77795019
121ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.77251678
122SOX9_26525672_Chip-Seq_HEART_Mouse0.76544066

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.78940928
2MP0003880_abnormal_central_pattern5.05559809
3MP0003635_abnormal_synaptic_transmissio4.25926539
4MP0004270_analgesia3.95661328
5MP0009745_abnormal_behavioral_response3.42867474
6MP0002063_abnormal_learning/memory/cond3.42720192
7* MP0002064_seizures3.20577518
8MP0001968_abnormal_touch/_nociception3.15305567
9MP0009046_muscle_twitch3.12396277
10MP0002572_abnormal_emotion/affect_behav2.86925975
11MP0002272_abnormal_nervous_system2.72088228
12MP0005423_abnormal_somatic_nervous2.68358344
13MP0001486_abnormal_startle_reflex2.68280475
14MP0002734_abnormal_mechanical_nocicepti2.64396388
15* MP0005551_abnormal_eye_electrophysiolog2.47871903
16MP0002736_abnormal_nociception_after2.38942302
17MP0001501_abnormal_sleep_pattern2.31160494
18MP0002735_abnormal_chemical_nociception2.14696687
19MP0001440_abnormal_grooming_behavior2.05948690
20MP0002822_catalepsy2.05238271
21MP0002067_abnormal_sensory_capabilities2.04906252
22MP0008569_lethality_at_weaning1.97499557
23MP0009780_abnormal_chondrocyte_physiolo1.91918951
24MP0001970_abnormal_pain_threshold1.82745591
25MP0002733_abnormal_thermal_nociception1.79801726
26MP0002184_abnormal_innervation1.75651129
27MP0003879_abnormal_hair_cell1.74172301
28MP0003329_amyloid_beta_deposits1.73180010
29MP0004811_abnormal_neuron_physiology1.72078317
30MP0001984_abnormal_olfaction1.69518321
31MP0004924_abnormal_behavior1.69028601
32MP0005386_behavior/neurological_phenoty1.69028601
33MP0004858_abnormal_nervous_system1.67704322
34MP0002557_abnormal_social/conspecific_i1.65217841
35MP0000778_abnormal_nervous_system1.63086907
36MP0002909_abnormal_adrenal_gland1.59310841
37MP0002882_abnormal_neuron_morphology1.55339091
38MP0005646_abnormal_pituitary_gland1.46422412
39MP0001502_abnormal_circadian_rhythm1.44578955
40MP0004147_increased_porphyrin_level1.43642181
41MP0000955_abnormal_spinal_cord1.42340991
42MP0005253_abnormal_eye_physiology1.42175199
43MP0003633_abnormal_nervous_system1.41831835
44MP0002066_abnormal_motor_capabilities/c1.38764291
45MP0006072_abnormal_retinal_apoptosis1.35326797
46MP0004885_abnormal_endolymph1.35229510
47MP0002229_neurodegeneration1.31891256
48MP0006276_abnormal_autonomic_nervous1.30783567
49MP0003787_abnormal_imprinting1.30069421
50MP0002090_abnormal_vision1.29835091
51MP0003123_paternal_imprinting1.23066651
52MP0003631_nervous_system_phenotype1.17125423
53MP0004145_abnormal_muscle_electrophysio1.15136275
54MP0004142_abnormal_muscle_tone1.13048109
55MP0001905_abnormal_dopamine_level1.09946987
56MP0001188_hyperpigmentation1.08415138
57MP0002152_abnormal_brain_morphology1.05479015
58MP0001348_abnormal_lacrimal_gland1.04934525
59MP0008872_abnormal_physiological_respon1.02622119
60MP0005645_abnormal_hypothalamus_physiol1.02564082
61MP0002752_abnormal_somatic_nervous0.98883006
62MP0001529_abnormal_vocalization0.96987937
63MP0010386_abnormal_urinary_bladder0.96304436
64MP0003011_delayed_dark_adaptation0.94789864
65MP0005499_abnormal_olfactory_system0.92065253
66MP0005394_taste/olfaction_phenotype0.92065253
67MP0008874_decreased_physiological_sensi0.90679392
68MP0004233_abnormal_muscle_weight0.90648442
69MP0000751_myopathy0.90355997
70MP0008877_abnormal_DNA_methylation0.89049742
71MP0001963_abnormal_hearing_physiology0.88864740
72MP0000569_abnormal_digit_pigmentation0.88551357
73MP0002069_abnormal_eating/drinking_beha0.88337469
74MP0003075_altered_response_to0.86970858
75MP0004215_abnormal_myocardial_fiber0.86741802
76MP0004742_abnormal_vestibular_system0.86638535
77MP0002837_dystrophic_cardiac_calcinosis0.84942165
78MP0005167_abnormal_blood-brain_barrier0.84241696
79MP0004085_abnormal_heartbeat0.82754490
80MP0001986_abnormal_taste_sensitivity0.81728605
81* MP0005195_abnormal_posterior_eye0.80008556
82MP0001177_atelectasis0.79784703
83MP0005535_abnormal_body_temperature0.79766346
84MP0003634_abnormal_glial_cell0.77508938
85MP0008961_abnormal_basal_metabolism0.77406692
86MP0004484_altered_response_of0.77381653
87MP0003632_abnormal_nervous_system0.76736368
88MP0001346_abnormal_lacrimal_gland0.75406164
89MP0004510_myositis0.74632019
90MP0003122_maternal_imprinting0.72076147
91MP0000604_amyloidosis0.71282576
92MP0002638_abnormal_pupillary_reflex0.69835461
93MP0000013_abnormal_adipose_tissue0.67140506
94MP0000631_abnormal_neuroendocrine_gland0.67063108
95MP0010234_abnormal_vibrissa_follicle0.65092275
96MP0000920_abnormal_myelination0.64912064
97MP0003690_abnormal_glial_cell0.60898311
98MP0005187_abnormal_penis_morphology0.59904347
99MP0004130_abnormal_muscle_cell0.59352941
100MP0003172_abnormal_lysosome_physiology0.58639212
101MP0001664_abnormal_digestion0.57860274
102MP0004043_abnormal_pH_regulation0.56290112
103MP0005409_darkened_coat_color0.56133609
104MP0005623_abnormal_meninges_morphology0.55437914
105MP0003283_abnormal_digestive_organ0.54383861
106MP0002876_abnormal_thyroid_physiology0.54156638
107MP0010769_abnormal_survival0.53967050
108MP0003045_fibrosis0.53312654
109MP0006292_abnormal_olfactory_placode0.53001029
110MP0003137_abnormal_impulse_conducting0.52325869
111MP0010768_mortality/aging0.51090740
112MP0001485_abnormal_pinna_reflex0.50569483
113MP0002082_postnatal_lethality0.49648886
114MP0010770_preweaning_lethality0.49648886
115* MP0003956_abnormal_body_size0.48389074
116MP0001943_abnormal_respiration0.47239265
117MP0000579_abnormal_nail_morphology0.43117852
118MP0003121_genomic_imprinting0.42705062
119MP0000639_abnormal_adrenal_gland0.42110174
120MP0000026_abnormal_inner_ear0.40532636

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.09830817
2Myokymia (HP:0002411)6.47764760
3Focal seizures (HP:0007359)5.85251130
4Epileptic encephalopathy (HP:0200134)5.61373115
5Visual hallucinations (HP:0002367)5.37228220
6Febrile seizures (HP:0002373)5.02229805
7Atonic seizures (HP:0010819)4.73856675
8Progressive cerebellar ataxia (HP:0002073)4.67026602
9Absence seizures (HP:0002121)4.53116085
10Congenital stationary night blindness (HP:0007642)4.44771374
11Dialeptic seizures (HP:0011146)4.12005695
12Action tremor (HP:0002345)3.97885612
13Generalized tonic-clonic seizures (HP:0002069)3.97159859
14Hyperventilation (HP:0002883)3.88588249
15Broad-based gait (HP:0002136)3.79894979
16Gaze-evoked nystagmus (HP:0000640)3.74082406
17Central scotoma (HP:0000603)3.60901531
18Limb dystonia (HP:0002451)3.57312262
19Dysdiadochokinesis (HP:0002075)3.46321280
20Cerebral hypomyelination (HP:0006808)3.46115672
21Abnormality of macular pigmentation (HP:0008002)3.45451193
22Poor eye contact (HP:0000817)3.43168452
23Tetraplegia (HP:0002445)3.35486801
24Truncal ataxia (HP:0002078)3.31517078
25Impaired vibration sensation in the lower limbs (HP:0002166)3.30925970
26Depression (HP:0000716)3.18580039
27Obstructive sleep apnea (HP:0002870)3.17228278
28Supranuclear gaze palsy (HP:0000605)3.14292121
29Dysmetria (HP:0001310)3.13971859
30Amblyopia (HP:0000646)3.08851384
31Urinary bladder sphincter dysfunction (HP:0002839)3.05082405
32Impaired social interactions (HP:0000735)3.04629597
33Abnormal social behavior (HP:0012433)3.04629597
34Impaired smooth pursuit (HP:0007772)3.03186058
35Bony spicule pigmentary retinopathy (HP:0007737)2.93206028
36Genetic anticipation (HP:0003743)2.92198683
37Postural instability (HP:0002172)2.90636556
38Neuronal loss in central nervous system (HP:0002529)2.86691550
39Dyschromatopsia (HP:0007641)2.86261152
40Ankle clonus (HP:0011448)2.79957109
41Drooling (HP:0002307)2.78923166
42Excessive salivation (HP:0003781)2.78923166
43Scanning speech (HP:0002168)2.78071323
44Anxiety (HP:0000739)2.78061538
45Dysmetric saccades (HP:0000641)2.76912120
46Scotoma (HP:0000575)2.75668194
47Papilledema (HP:0001085)2.74616616
48Abnormality of the lower motor neuron (HP:0002366)2.66845077
49Abnormal rod and cone electroretinograms (HP:0008323)2.66203773
50Abnormality of ocular smooth pursuit (HP:0000617)2.65853024
51Akinesia (HP:0002304)2.65238328
52Absent speech (HP:0001344)2.63034038
53Epileptiform EEG discharges (HP:0011182)2.58893828
54Hemiparesis (HP:0001269)2.54203588
55Clonus (HP:0002169)2.52313338
56Mutism (HP:0002300)2.49537545
57Abnormal eating behavior (HP:0100738)2.49073385
58Bundle branch block (HP:0011710)2.47977383
59Spastic tetraparesis (HP:0001285)2.47229335
60Stereotypic behavior (HP:0000733)2.46191371
61Intention tremor (HP:0002080)2.42992875
62Impaired vibratory sensation (HP:0002495)2.42233583
63Urinary urgency (HP:0000012)2.41740890
64Decreased central vision (HP:0007663)2.40476710
65Bradykinesia (HP:0002067)2.40007444
66EEG with generalized epileptiform discharges (HP:0011198)2.39929903
67Abnormality of binocular vision (HP:0011514)2.37599648
68Diplopia (HP:0000651)2.37599648
69Rigidity (HP:0002063)2.36819310
70Absent rod-and cone-mediated responses on ERG (HP:0007688)2.35646334
71Status epilepticus (HP:0002133)2.35595570
72Spastic gait (HP:0002064)2.34655701
73Apathy (HP:0000741)2.32458376
74Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.31973473
75Degeneration of the lateral corticospinal tracts (HP:0002314)2.31973473
76Choroideremia (HP:0001139)2.31816118
77Peripheral hypomyelination (HP:0007182)2.29974780
78Choreoathetosis (HP:0001266)2.28976246
79Sleep apnea (HP:0010535)2.27689545
80Ventricular fibrillation (HP:0001663)2.26355739
81CNS hypomyelination (HP:0003429)2.24751156
82Insidious onset (HP:0003587)2.20541785
83Termporal pattern (HP:0011008)2.20541785
84Generalized myoclonic seizures (HP:0002123)2.19753520
85Fetal akinesia sequence (HP:0001989)2.19505927
86Cerebral inclusion bodies (HP:0100314)2.17548845
87Hemiplegia (HP:0002301)2.17455060
88Inability to walk (HP:0002540)2.16854905
89Morphological abnormality of the pyramidal tract (HP:0002062)2.16701245
90Hypsarrhythmia (HP:0002521)2.16088778
91Torticollis (HP:0000473)2.13654278
92Focal dystonia (HP:0004373)2.10363299
93Diminished motivation (HP:0000745)2.09503599
94Increased circulating renin level (HP:0000848)2.07240602
95Rapidly progressive (HP:0003678)2.04976964
96Insomnia (HP:0100785)2.02543589
97Protruding tongue (HP:0010808)2.01377474
98Gait ataxia (HP:0002066)2.00953855
99Progressive inability to walk (HP:0002505)2.00666885
100Blue irides (HP:0000635)1.99828677
101Heart block (HP:0012722)1.98992336
102Pheochromocytoma (HP:0002666)1.98932011
103Annular pancreas (HP:0001734)1.96839069
104Neurofibrillary tangles (HP:0002185)1.96067381
105Lower limb muscle weakness (HP:0007340)1.94553327
106Memory impairment (HP:0002354)1.94264719
107Incomplete penetrance (HP:0003829)1.93967693
108Megalencephaly (HP:0001355)1.93882781
109Gait imbalance (HP:0002141)1.92983702
110Abnormality of the corticospinal tract (HP:0002492)1.92502018
111Decreased electroretinogram (ERG) amplitude (HP:0000654)1.86794871
112Delusions (HP:0000746)1.86061057
113Polyphagia (HP:0002591)1.85470577
114Horizontal nystagmus (HP:0000666)1.84363803
115Abnormality of salivation (HP:0100755)1.83471808
116Attenuation of retinal blood vessels (HP:0007843)1.81539886
117Inappropriate behavior (HP:0000719)1.78886304
118Abnormal atrioventricular conduction (HP:0005150)1.77115038
119Abnormality of saccadic eye movements (HP:0000570)1.75814261
120Pointed chin (HP:0000307)1.75081828
121Atrioventricular block (HP:0001678)1.74221424
122Craniofacial dystonia (HP:0012179)1.73065769
123Unsteady gait (HP:0002317)1.71480288
124Abolished electroretinogram (ERG) (HP:0000550)1.71174913
125Intellectual disability, profound (HP:0002187)1.70696520
126Lower limb asymmetry (HP:0100559)1.69240438
127Congenital primary aphakia (HP:0007707)1.68478174
128Abnormal EKG (HP:0003115)1.68293501

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.66237353
2NTRK34.47691044
3MAP3K93.72562573
4MAP3K43.08991774
5DAPK22.85876418
6MAP2K72.61596836
7MINK12.58541191
8RIPK42.47889510
9PAK62.38366882
10CASK2.23009476
11MARK12.20968727
12KSR22.18857438
13MAP3K122.14535226
14MAP2K42.03164580
15CAMKK11.96930574
16CDK191.93570932
17DAPK11.93474973
18PRKD31.90114106
19KSR11.75942449
20PLK21.73194987
21NTRK21.59827220
22NTRK11.58467870
23PRPF4B1.52712084
24CDK51.49062252
25STK381.48639699
26GRK51.44000787
27PNCK1.35689594
28SIK21.30523511
29CAMKK21.28554644
30MAP3K131.28375907
31ARAF1.27586566
32PRKCG1.23853648
33MAP3K21.21261792
34TNIK1.20762947
35FES1.14537650
36MAPK131.08962810
37BMPR21.06441316
38CAMK2A1.03986537
39PTK2B1.03482087
40CAMK11.03333215
41SGK4940.96570825
42SGK2230.96570825
43UHMK10.96414947
44TYRO30.95881407
45RAF10.95638008
46CCNB10.95383749
47OXSR10.94684870
48PINK10.92237376
49CDK180.87283714
50STK110.87050363
51SGK20.85346267
52CDK150.84608417
53CDK140.80898523
54PDK10.80778600
55RET0.79752403
56CAMK2B0.79345437
57TAOK10.76284109
58PRKCH0.75886378
59SGK10.75725431
60CDK11A0.72953334
61DYRK1A0.72525505
62SGK30.71047061
63PAK30.67323795
64LATS20.66614433
65PKN10.66472995
66PDPK10.64447073
67AKT30.60357484
68MAP3K70.59217705
69PHKG20.58984156
70PHKG10.58984156
71MAP3K10.58847597
72NME10.58109584
73BRAF0.55771200
74NEK10.54288889
75CAMK1G0.53991382
76BRSK10.53868397
77CAMK2D0.52859682
78MAP3K110.50947832
79TNK20.49662809
80CAMK40.49643392
81RPS6KA30.49395903
82ALK0.49037795
83FGR0.49009114
84LMTK20.47925087
85PRKCZ0.47566578
86CSNK1G20.46712135
87MAPKAPK50.46424033
88FER0.45025887
89SIK30.44744404
90NEK60.44537217
91MAP3K60.43820935
92FGFR20.43811152
93WNK10.43758171
94MARK20.43085520
95PRKCE0.42588363
96MAPK100.41645831
97DAPK30.41038706
98RIPK10.41000180
99CAMK2G0.40945119
100LIMK10.40357242
101CDC42BPA0.39166966
102MAPK120.38767433
103ROCK20.38386876
104GRK10.38334772
105FYN0.37878569
106PRKCA0.37759797
107MAP2K10.37314925
108PRKCB0.34161540
109MAPK70.32057221
110PRKG10.29674272
111STK390.27819246
112PAK20.26805918
113PRKACA0.26197251
114IRAK20.24545776
115CSNK1D0.23977661
116MAPK80.23683847

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.78556468
2Synaptic vesicle cycle_Homo sapiens_hsa047213.37248007
3Phototransduction_Homo sapiens_hsa047443.06127048
4Olfactory transduction_Homo sapiens_hsa047402.81172002
5Long-term potentiation_Homo sapiens_hsa047202.78171475
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.76954360
7Circadian entrainment_Homo sapiens_hsa047132.75535246
8Glutamatergic synapse_Homo sapiens_hsa047242.65994897
9GABAergic synapse_Homo sapiens_hsa047272.64165116
10Morphine addiction_Homo sapiens_hsa050322.51309587
11Amphetamine addiction_Homo sapiens_hsa050312.46297289
12Salivary secretion_Homo sapiens_hsa049702.28198576
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.21295608
14Dopaminergic synapse_Homo sapiens_hsa047282.12361540
15Insulin secretion_Homo sapiens_hsa049112.08258160
16Cholinergic synapse_Homo sapiens_hsa047251.91232446
17Gastric acid secretion_Homo sapiens_hsa049711.91089660
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.87343250
19Renin secretion_Homo sapiens_hsa049241.73814252
20Oxytocin signaling pathway_Homo sapiens_hsa049211.73509279
21Taste transduction_Homo sapiens_hsa047421.69104698
22Long-term depression_Homo sapiens_hsa047301.66113686
23Serotonergic synapse_Homo sapiens_hsa047261.64435541
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64180196
25Calcium signaling pathway_Homo sapiens_hsa040201.61642095
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.49734479
27Collecting duct acid secretion_Homo sapiens_hsa049661.44032695
28GnRH signaling pathway_Homo sapiens_hsa049121.41527303
29Vitamin B6 metabolism_Homo sapiens_hsa007501.37441554
30Cocaine addiction_Homo sapiens_hsa050301.32433290
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28892116
32cAMP signaling pathway_Homo sapiens_hsa040241.27211608
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26636735
34Gap junction_Homo sapiens_hsa045401.24820176
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21458243
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.19617437
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.19359033
38Glioma_Homo sapiens_hsa052141.14171565
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.13975360
40Type II diabetes mellitus_Homo sapiens_hsa049301.13134864
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10065475
42Estrogen signaling pathway_Homo sapiens_hsa049151.05380583
43ErbB signaling pathway_Homo sapiens_hsa040120.98316510
44Melanogenesis_Homo sapiens_hsa049160.97934742
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95639522
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.94206603
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.93136909
48Cardiac muscle contraction_Homo sapiens_hsa042600.92912962
49Axon guidance_Homo sapiens_hsa043600.92166131
50Pancreatic secretion_Homo sapiens_hsa049720.90692621
51Nitrogen metabolism_Homo sapiens_hsa009100.89432562
52Vibrio cholerae infection_Homo sapiens_hsa051100.86578842
53Oocyte meiosis_Homo sapiens_hsa041140.85341001
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.79656160
55Thyroid hormone synthesis_Homo sapiens_hsa049180.77784857
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.76459739
57Dorso-ventral axis formation_Homo sapiens_hsa043200.76232773
58Choline metabolism in cancer_Homo sapiens_hsa052310.71811883
59Circadian rhythm_Homo sapiens_hsa047100.71730672
60Dilated cardiomyopathy_Homo sapiens_hsa054140.71614205
61VEGF signaling pathway_Homo sapiens_hsa043700.70702965
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69702555
63MAPK signaling pathway_Homo sapiens_hsa040100.68251490
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65471367
65Glucagon signaling pathway_Homo sapiens_hsa049220.62045515
66mTOR signaling pathway_Homo sapiens_hsa041500.61666764
67Inositol phosphate metabolism_Homo sapiens_hsa005620.59758344
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59475785
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57286764
70Ras signaling pathway_Homo sapiens_hsa040140.55083350
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.54945461
72African trypanosomiasis_Homo sapiens_hsa051430.53570407
73Rap1 signaling pathway_Homo sapiens_hsa040150.50073372
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.49738554
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45984910
76Mineral absorption_Homo sapiens_hsa049780.45741288
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43355056
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41984002
79Bile secretion_Homo sapiens_hsa049760.41882972
80Non-small cell lung cancer_Homo sapiens_hsa052230.41624860
81Fatty acid biosynthesis_Homo sapiens_hsa000610.41163495
82Wnt signaling pathway_Homo sapiens_hsa043100.39995807
83Endocytosis_Homo sapiens_hsa041440.39305204
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38639072
85Alcoholism_Homo sapiens_hsa050340.38340956
86Arginine and proline metabolism_Homo sapiens_hsa003300.38208301
87Arginine biosynthesis_Homo sapiens_hsa002200.36409498
88Histidine metabolism_Homo sapiens_hsa003400.36076945
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34876969
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34639104
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34342587
92Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.34049088
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33556977
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32317550
95Endometrial cancer_Homo sapiens_hsa052130.32150698
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31928193
97Renal cell carcinoma_Homo sapiens_hsa052110.31674916
98Insulin signaling pathway_Homo sapiens_hsa049100.31230414
99Prion diseases_Homo sapiens_hsa050200.30369110
100Chemokine signaling pathway_Homo sapiens_hsa040620.29843639
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29523510
102Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.29161320
103Type I diabetes mellitus_Homo sapiens_hsa049400.28418383
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.25374805
105Ovarian steroidogenesis_Homo sapiens_hsa049130.22768539
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.22610761
107Alzheimers disease_Homo sapiens_hsa050100.22380343
108Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22150435
109Prolactin signaling pathway_Homo sapiens_hsa049170.19594110
110beta-Alanine metabolism_Homo sapiens_hsa004100.18608410
111AMPK signaling pathway_Homo sapiens_hsa041520.18269667
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.17394776
113HIF-1 signaling pathway_Homo sapiens_hsa040660.15948074
114ABC transporters_Homo sapiens_hsa020100.14812346
115Tight junction_Homo sapiens_hsa045300.13451422

Most similar genes based on co-expression Upload to Enrichr

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