VAMP2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.08936527
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.60354377
3locomotory exploration behavior (GO:0035641)6.28781873
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.05748355
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.76320620
6regulation of synaptic vesicle exocytosis (GO:2000300)5.43114257
7synaptic vesicle docking involved in exocytosis (GO:0016081)5.42524510
8vocalization behavior (GO:0071625)5.35419298
9* glutamate secretion (GO:0014047)5.34189201
10* synaptic vesicle exocytosis (GO:0016079)5.28126348
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.13098431
12regulation of glutamate receptor signaling pathway (GO:1900449)4.87873382
13regulation of synaptic vesicle transport (GO:1902803)4.80647150
14exploration behavior (GO:0035640)4.71378166
15layer formation in cerebral cortex (GO:0021819)4.69261221
16protein localization to synapse (GO:0035418)4.66556837
17regulation of neuronal synaptic plasticity (GO:0048168)4.58936507
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.52821582
19cerebellar granule cell differentiation (GO:0021707)4.51726445
20* neurotransmitter secretion (GO:0007269)4.51142098
21regulation of synapse structural plasticity (GO:0051823)4.48083498
22neuronal action potential propagation (GO:0019227)4.28270081
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.28151274
24cellular potassium ion homeostasis (GO:0030007)4.24598739
25dendritic spine morphogenesis (GO:0060997)4.23784925
26L-amino acid import (GO:0043092)4.23423024
27sodium ion export (GO:0071436)4.18214674
28gamma-aminobutyric acid transport (GO:0015812)4.08454695
29proline transport (GO:0015824)4.06326133
30neuron cell-cell adhesion (GO:0007158)3.98078562
31synaptic transmission, glutamatergic (GO:0035249)3.97712195
32neurotransmitter-gated ion channel clustering (GO:0072578)3.96600005
33long-term memory (GO:0007616)3.93098431
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.90105284
35activation of protein kinase A activity (GO:0034199)3.85030065
36positive regulation of membrane potential (GO:0045838)3.84994583
37regulation of synapse maturation (GO:0090128)3.81200627
38amino acid import (GO:0043090)3.75456567
39glutamate receptor signaling pathway (GO:0007215)3.71439289
40cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.70499146
41neuron-neuron synaptic transmission (GO:0007270)3.69379943
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.67246012
43membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.65870571
44central nervous system myelination (GO:0022010)3.64563232
45axon ensheathment in central nervous system (GO:0032291)3.64563232
46neuromuscular process controlling balance (GO:0050885)3.60333178
47* neurotransmitter transport (GO:0006836)3.60111611
48cell communication by electrical coupling (GO:0010644)3.53914444
49positive regulation of synapse maturation (GO:0090129)3.53624057
50regulation of neurotransmitter secretion (GO:0046928)3.52288696
51regulation of postsynaptic membrane potential (GO:0060078)3.50941895
52* regulation of synaptic plasticity (GO:0048167)3.50033663
53regulation of dendritic spine morphogenesis (GO:0061001)3.46012355
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43201152
55synaptic vesicle endocytosis (GO:0048488)3.42509355
56cerebellar Purkinje cell differentiation (GO:0021702)3.41675208
57positive regulation of synaptic transmission, GABAergic (GO:0032230)3.39134061
58neuromuscular process controlling posture (GO:0050884)3.38541784
59glycine transport (GO:0015816)3.38484246
60regulation of ARF protein signal transduction (GO:0032012)3.36218565
61positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.36163358
62auditory behavior (GO:0031223)3.35313957
63positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34471965
64dendrite morphogenesis (GO:0048813)3.33573011
65regulation of vesicle fusion (GO:0031338)3.32778886
66* regulation of neurotransmitter levels (GO:0001505)3.31198515
67response to auditory stimulus (GO:0010996)3.25154064
68positive regulation of dendritic spine morphogenesis (GO:0061003)3.24336138
69regulation of neurotransmitter transport (GO:0051588)3.22807389
70positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21577539
71neuron recognition (GO:0008038)3.17823550
72negative regulation of dendrite morphogenesis (GO:0050774)3.17020840
73positive regulation of neurotransmitter transport (GO:0051590)3.16519801
74positive regulation of neurotransmitter secretion (GO:0001956)3.16443398
75vesicle transport along microtubule (GO:0047496)3.16227107
76cell differentiation in hindbrain (GO:0021533)3.14533494
77transmission of nerve impulse (GO:0019226)3.11199453
78prepulse inhibition (GO:0060134)3.10408247
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.10003668
80neuromuscular synaptic transmission (GO:0007274)3.07859443
81dendritic spine organization (GO:0097061)3.07501425
82membrane hyperpolarization (GO:0060081)3.06721114
83* synaptic transmission (GO:0007268)3.06435561
84G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.05399938
85postsynaptic membrane organization (GO:0001941)3.03856245
86innervation (GO:0060384)3.03209097
87potassium ion import (GO:0010107)3.03194282
88detection of calcium ion (GO:0005513)3.02191403
89neuronal ion channel clustering (GO:0045161)3.01832585
90chemosensory behavior (GO:0007635)3.00499522
91membrane depolarization during action potential (GO:0086010)3.00377453
92membrane depolarization (GO:0051899)3.00100675
93positive regulation of dendritic spine development (GO:0060999)2.98076787
94acidic amino acid transport (GO:0015800)2.98038930
95regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.96526480
96axonal fasciculation (GO:0007413)2.96294281
97neuromuscular process (GO:0050905)2.95803587
98cerebellar Purkinje cell layer development (GO:0021680)2.94642578
99negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94266994
100* regulation of exocytosis (GO:0017157)2.93848445
101cell migration in hindbrain (GO:0021535)2.93522161
102* long-term synaptic potentiation (GO:0060291)2.93478018
103negative regulation of synaptic transmission, GABAergic (GO:0032229)2.93337123
104regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.93245049
105regulation of voltage-gated calcium channel activity (GO:1901385)2.93142173
106social behavior (GO:0035176)2.93108100
107intraspecies interaction between organisms (GO:0051703)2.93108100
108regulation of calcium ion-dependent exocytosis (GO:0017158)2.93009658
109regulation of dendritic spine development (GO:0060998)2.92080992
110regulation of clathrin-mediated endocytosis (GO:2000369)2.91829640
111gamma-aminobutyric acid signaling pathway (GO:0007214)2.91060022
112cellular sodium ion homeostasis (GO:0006883)2.90973883
113learning (GO:0007612)2.90478353
114* regulation of synaptic transmission (GO:0050804)2.89911193
115potassium ion homeostasis (GO:0055075)2.89489872
116establishment of mitochondrion localization (GO:0051654)2.89233042
117vesicle docking involved in exocytosis (GO:0006904)2.88784532
118organelle transport along microtubule (GO:0072384)2.86841471
119* establishment of synaptic vesicle localization (GO:0097480)2.86232562
120* synaptic vesicle transport (GO:0048489)2.86232562
121neurotransmitter uptake (GO:0001504)2.80998025

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.67606883
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06936803
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01552839
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94617707
5* RARB_27405468_Chip-Seq_BRAIN_Mouse2.87809444
6REST_21632747_ChIP-Seq_MESCs_Mouse2.83236732
7GBX2_23144817_ChIP-Seq_PC3_Human2.82719196
8DROSHA_22980978_ChIP-Seq_HELA_Human2.78865815
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74297927
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74297927
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63913786
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60740668
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58601345
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.49561151
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44314722
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41956200
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.39074622
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.36773437
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34467691
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.33878663
21EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.32630852
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.31459845
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.25733457
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.20094608
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.13626097
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.08574458
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.94421188
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.85906237
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.77027181
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72401406
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.54328153
32* AR_21572438_ChIP-Seq_LNCaP_Human1.52884613
33KDM2B_26808549_Chip-Seq_K562_Human1.45723609
34RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.45640292
35* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.42954889
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41718407
37SMAD4_21799915_ChIP-Seq_A2780_Human1.40074380
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.37989253
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37443590
40* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.34460334
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31748468
42* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30851818
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29225122
44* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.28781581
45SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.27886022
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.26551577
47AR_19668381_ChIP-Seq_PC3_Human1.24957844
48ZNF274_21170338_ChIP-Seq_K562_Hela1.24378353
49CTBP1_25329375_ChIP-Seq_LNCAP_Human1.20669809
50GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20195335
51* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18253429
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17335925
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.15835332
54CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.13731176
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13296847
56* KDM2B_26808549_Chip-Seq_DND41_Human1.13059238
57PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.12170846
58OCT4_19829295_ChIP-Seq_ESCs_Human1.10230904
59P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08955133
60TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.07722448
61SMAD_19615063_ChIP-ChIP_OVARY_Human1.07464488
62STAT3_23295773_ChIP-Seq_U87_Human1.07182529
63AR_25329375_ChIP-Seq_VCAP_Human1.06632939
64ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05496334
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05373061
66RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.03790833
67PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03063457
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.01008744
69TET1_21490601_ChIP-Seq_MESCs_Mouse1.00611245
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99732986
71* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99716166
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98041545
73KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98000231
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97323692
75CTCF_27219007_Chip-Seq_Bcells_Human0.97318416
76SMAD4_21741376_ChIP-Seq_HESCs_Human0.96429704
77SRY_22984422_ChIP-ChIP_TESTIS_Rat0.96395365
78SMAD3_21741376_ChIP-Seq_ESCs_Human0.95322526
79RNF2_27304074_Chip-Seq_NSC_Mouse0.94952802
80TAF15_26573619_Chip-Seq_HEK293_Human0.94353057
81KDM2B_26808549_Chip-Seq_JURKAT_Human0.94248666
82ARNT_22903824_ChIP-Seq_MCF-7_Human0.94176706
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93855313
84SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93831659
85DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.93469499
86THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.93354196
87DPY_21335234_ChIP-Seq_ESCs_Mouse0.93019778
88P300_19829295_ChIP-Seq_ESCs_Human0.92782832
89AHR_22903824_ChIP-Seq_MCF-7_Human0.92684320
90CDX2_19796622_ChIP-Seq_MESCs_Mouse0.92659203
91SMAD3_21741376_ChIP-Seq_HESCs_Human0.92523540
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91091490
93TCF4_23295773_ChIP-Seq_U87_Human0.90186000
94RXR_22108803_ChIP-Seq_LS180_Human0.89903865
95TOP2B_26459242_ChIP-Seq_MCF-7_Human0.89227272
96* P68_20966046_ChIP-Seq_HELA_Human0.88796425
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88400107
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86140568
99SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85879928
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85308272
101CREB1_26743006_Chip-Seq_LNCaP_Human0.84705824
102OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84134345
103CBX2_27304074_Chip-Seq_ESCs_Mouse0.83283826
104PIAS1_25552417_ChIP-Seq_VCAP_Human0.82978571
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.81957731
106SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.81930904
107ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.81029849
108KLF4_19829295_ChIP-Seq_ESCs_Human0.80643410
109LXR_22292898_ChIP-Seq_THP-1_Human0.80517411
110PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.79872165
111PRDM14_20953172_ChIP-Seq_ESCs_Human0.78661020
112* SMC4_20622854_ChIP-Seq_HELA_Human0.77732222
113CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77701583
114GATA1_26923725_Chip-Seq_HPCs_Mouse0.76656580
115SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.75978089
116EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.75199994
117SMAD4_21741376_ChIP-Seq_ESCs_Human0.75015521
118* TP53_20018659_ChIP-ChIP_R1E_Mouse0.73796368
119ESR2_21235772_ChIP-Seq_MCF-7_Human0.73719862
120TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.72213403
121SA1_27219007_Chip-Seq_ERYTHROID_Human0.71661308
122MYC_19915707_ChIP-ChIP_AK7_Human0.70134808
123BMI1_23680149_ChIP-Seq_NPCS_Mouse0.69010264
124TCF7_22412390_ChIP-Seq_EML_Mouse0.68167591
125MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.67335416
126GATA1_19941827_ChIP-Seq_MEL_Mouse0.67296380
127CTCF_27219007_Chip-Seq_ERYTHROID_Human0.67211710
128* SA1_27219007_Chip-Seq_Bcells_Human0.66768167
129TET1_21451524_ChIP-Seq_MESCs_Mouse0.66674089
130KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.66004275

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.15819516
2* MP0003635_abnormal_synaptic_transmissio4.26689326
3MP0003880_abnormal_central_pattern4.25362497
4MP0004270_analgesia4.01011438
5MP0002063_abnormal_learning/memory/cond3.37396725
6MP0009745_abnormal_behavioral_response3.32199208
7MP0002064_seizures3.15633286
8MP0009046_muscle_twitch3.05151727
9MP0005423_abnormal_somatic_nervous3.01183723
10MP0001968_abnormal_touch/_nociception2.93978867
11MP0002822_catalepsy2.75244743
12MP0002572_abnormal_emotion/affect_behav2.74685907
13MP0002734_abnormal_mechanical_nocicepti2.72108243
14MP0001486_abnormal_startle_reflex2.51704300
15MP0002272_abnormal_nervous_system2.50872732
16MP0009780_abnormal_chondrocyte_physiolo2.28410341
17MP0001501_abnormal_sleep_pattern2.15376337
18MP0002909_abnormal_adrenal_gland2.13857431
19MP0008569_lethality_at_weaning2.08749849
20MP0002733_abnormal_thermal_nociception2.08602913
21MP0002736_abnormal_nociception_after2.05351122
22MP0004858_abnormal_nervous_system2.04260129
23MP0002735_abnormal_chemical_nociception2.03618439
24MP0001970_abnormal_pain_threshold1.98485740
25MP0003329_amyloid_beta_deposits1.97248727
26MP0001440_abnormal_grooming_behavior1.95767992
27MP0004811_abnormal_neuron_physiology1.91776209
28MP0002067_abnormal_sensory_capabilities1.84152550
29MP0002557_abnormal_social/conspecific_i1.73985244
30MP0002184_abnormal_innervation1.73920083
31MP0004924_abnormal_behavior1.73456266
32MP0005386_behavior/neurological_phenoty1.73456266
33MP0000778_abnormal_nervous_system1.66750600
34MP0004885_abnormal_endolymph1.66586892
35MP0003879_abnormal_hair_cell1.61826831
36MP0005646_abnormal_pituitary_gland1.60974086
37MP0000955_abnormal_spinal_cord1.58795854
38MP0002882_abnormal_neuron_morphology1.46499988
39MP0003633_abnormal_nervous_system1.45502776
40MP0001984_abnormal_olfaction1.43753223
41MP0002066_abnormal_motor_capabilities/c1.42327781
42MP0003787_abnormal_imprinting1.33325562
43MP0006276_abnormal_autonomic_nervous1.32815071
44MP0001502_abnormal_circadian_rhythm1.30983621
45MP0008961_abnormal_basal_metabolism1.25950614
46MP0005645_abnormal_hypothalamus_physiol1.25343592
47MP0005551_abnormal_eye_electrophysiolog1.19259865
48MP0003631_nervous_system_phenotype1.18220688
49MP0000569_abnormal_digit_pigmentation1.16647308
50MP0003283_abnormal_digestive_organ1.14729476
51MP0003122_maternal_imprinting1.13813531
52MP0000013_abnormal_adipose_tissue1.11999488
53MP0003075_altered_response_to1.10671766
54MP0003123_paternal_imprinting1.10072863
55MP0002152_abnormal_brain_morphology1.09768416
56MP0000751_myopathy1.07423446
57MP0002229_neurodegeneration1.05372845
58MP0001986_abnormal_taste_sensitivity1.03449148
59MP0004142_abnormal_muscle_tone1.03146326
60MP0001905_abnormal_dopamine_level1.02329667
61MP0008872_abnormal_physiological_respon1.01168042
62MP0002069_abnormal_eating/drinking_beha0.96898241
63MP0004145_abnormal_muscle_electrophysio0.94961038
64MP0002090_abnormal_vision0.94188369
65MP0008874_decreased_physiological_sensi0.93463418
66MP0003690_abnormal_glial_cell0.91971281
67MP0003634_abnormal_glial_cell0.90846342
68MP0000604_amyloidosis0.87793434
69MP0005535_abnormal_body_temperature0.87583654
70MP0001177_atelectasis0.85945307
71MP0004085_abnormal_heartbeat0.85626080
72MP0008877_abnormal_DNA_methylation0.84698660
73MP0003172_abnormal_lysosome_physiology0.83890170
74MP0000920_abnormal_myelination0.81365137
75MP0003632_abnormal_nervous_system0.80996039
76MP0001529_abnormal_vocalization0.80416922
77MP0004233_abnormal_muscle_weight0.79454367
78MP0004147_increased_porphyrin_level0.79341252
79MP0010386_abnormal_urinary_bladder0.78886035
80MP0005394_taste/olfaction_phenotype0.76747954
81MP0005499_abnormal_olfactory_system0.76747954
82MP0004043_abnormal_pH_regulation0.74590597
83MP0010234_abnormal_vibrissa_follicle0.74185643
84MP0005167_abnormal_blood-brain_barrier0.73901818
85MP0004215_abnormal_myocardial_fiber0.73216608
86MP0001485_abnormal_pinna_reflex0.70977087
87MP0002752_abnormal_somatic_nervous0.70536652
88MP0004130_abnormal_muscle_cell0.67985771
89MP0004510_myositis0.67952529
90MP0004742_abnormal_vestibular_system0.67884702
91MP0001963_abnormal_hearing_physiology0.67567511
92MP0000631_abnormal_neuroendocrine_gland0.67343721
93MP0003137_abnormal_impulse_conducting0.66307541
94MP0002638_abnormal_pupillary_reflex0.64928099
95MP0006072_abnormal_retinal_apoptosis0.64820977
96MP0002837_dystrophic_cardiac_calcinosis0.64266790
97MP0005623_abnormal_meninges_morphology0.63202952
98MP0001299_abnormal_eye_distance/0.60944406
99MP0005187_abnormal_penis_morphology0.60678839
100MP0005166_decreased_susceptibility_to0.60422604
101MP0004484_altered_response_of0.59732786
102MP0001188_hyperpigmentation0.58454431
103MP0003121_genomic_imprinting0.57424264
104MP0001664_abnormal_digestion0.57140528
105MP0003183_abnormal_peptide_metabolism0.56422442
106MP0005253_abnormal_eye_physiology0.54003721
107MP0001348_abnormal_lacrimal_gland0.52845597
108* MP0010769_abnormal_survival0.52818242
109MP0002653_abnormal_ependyma_morphology0.51706543
110MP0003045_fibrosis0.50735113
111MP0001943_abnormal_respiration0.50457760
112MP0003956_abnormal_body_size0.49361018
113MP0001765_abnormal_ion_homeostasis0.49249803
114* MP0010768_mortality/aging0.48849298
115MP0000026_abnormal_inner_ear0.48070639
116* MP0002082_postnatal_lethality0.46535577
117* MP0010770_preweaning_lethality0.46535577
118* MP0002873_normal_phenotype0.44380939
119MP0002083_premature_death0.43930409
120MP0001346_abnormal_lacrimal_gland0.43809051
121* MP0002169_no_abnormal_phenotype0.43059808
122MP0005409_darkened_coat_color0.42626021

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.07819468
2Focal motor seizures (HP:0011153)6.69974152
3Visual hallucinations (HP:0002367)5.62010448
4Focal seizures (HP:0007359)5.47478278
5Epileptic encephalopathy (HP:0200134)4.59626900
6Progressive cerebellar ataxia (HP:0002073)4.34771504
7Action tremor (HP:0002345)4.22246101
8Supranuclear gaze palsy (HP:0000605)3.86838288
9Atonic seizures (HP:0010819)3.86119912
10Papilledema (HP:0001085)3.83971222
11Ankle clonus (HP:0011448)3.83038245
12Febrile seizures (HP:0002373)3.81390148
13Absence seizures (HP:0002121)3.79961686
14Generalized tonic-clonic seizures (HP:0002069)3.64579211
15Depression (HP:0000716)3.55701774
16Poor eye contact (HP:0000817)3.55512827
17Mutism (HP:0002300)3.42122676
18Dialeptic seizures (HP:0011146)3.40022315
19Broad-based gait (HP:0002136)3.30618558
20Impaired vibration sensation in the lower limbs (HP:0002166)3.26980111
21Impaired social interactions (HP:0000735)3.24358490
22Abnormal social behavior (HP:0012433)3.24358490
23Urinary bladder sphincter dysfunction (HP:0002839)3.22809908
24Postural instability (HP:0002172)3.22685649
25Dysdiadochokinesis (HP:0002075)3.14604648
26Cerebral hypomyelination (HP:0006808)3.14101063
27Anxiety (HP:0000739)3.13281268
28Genetic anticipation (HP:0003743)3.12947766
29Gaze-evoked nystagmus (HP:0000640)3.11165148
30Peripheral hypomyelination (HP:0007182)3.02277865
31Dysmetria (HP:0001310)3.01320762
32Abnormal eating behavior (HP:0100738)2.98120881
33Delusions (HP:0000746)2.97703381
34Abnormality of the lower motor neuron (HP:0002366)2.97600986
35Truncal ataxia (HP:0002078)2.97557149
36Torticollis (HP:0000473)2.94996126
37Tetraplegia (HP:0002445)2.91656274
38Akinesia (HP:0002304)2.85402317
39Ventricular fibrillation (HP:0001663)2.81792038
40Sleep apnea (HP:0010535)2.81668166
41Urinary urgency (HP:0000012)2.79357573
42Impaired smooth pursuit (HP:0007772)2.73316471
43Focal dystonia (HP:0004373)2.72099950
44Megalencephaly (HP:0001355)2.71364971
45Intention tremor (HP:0002080)2.68551454
46Hemiplegia (HP:0002301)2.65936366
47Spastic gait (HP:0002064)2.64391884
48Amblyopia (HP:0000646)2.54687674
49Bradykinesia (HP:0002067)2.52751611
50Hyperventilation (HP:0002883)2.52296254
51Stereotypic behavior (HP:0000733)2.52270418
52Neurofibrillary tangles (HP:0002185)2.49230723
53Excessive salivation (HP:0003781)2.48307877
54Drooling (HP:0002307)2.48307877
55Hemiparesis (HP:0001269)2.45232891
56Abnormality of binocular vision (HP:0011514)2.44953987
57Diplopia (HP:0000651)2.44953987
58Dysmetric saccades (HP:0000641)2.43811037
59Scanning speech (HP:0002168)2.42710677
60Abnormality of ocular smooth pursuit (HP:0000617)2.42061588
61Craniofacial dystonia (HP:0012179)2.41580816
62Cerebral inclusion bodies (HP:0100314)2.40821219
63Progressive inability to walk (HP:0002505)2.40311116
64Agitation (HP:0000713)2.38339099
65Annular pancreas (HP:0001734)2.37669198
66Pheochromocytoma (HP:0002666)2.34238369
67Epileptiform EEG discharges (HP:0011182)2.33974633
68Bundle branch block (HP:0011710)2.32880248
69Insomnia (HP:0100785)2.32368791
70EEG with generalized epileptiform discharges (HP:0011198)2.32289593
71Limb dystonia (HP:0002451)2.29224458
72Termporal pattern (HP:0011008)2.27818622
73Insidious onset (HP:0003587)2.27818622
74Obstructive sleep apnea (HP:0002870)2.26983735
75Hypsarrhythmia (HP:0002521)2.25787687
76Pointed chin (HP:0000307)2.25071247
77Spinal canal stenosis (HP:0003416)2.24492885
78Status epilepticus (HP:0002133)2.24329851
79Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.23939685
80Lower limb muscle weakness (HP:0007340)2.21572193
81Abnormality of the corticospinal tract (HP:0002492)2.20920051
82Impaired vibratory sensation (HP:0002495)2.19204153
83Diminished motivation (HP:0000745)2.17200373
84Amyotrophic lateral sclerosis (HP:0007354)2.15846392
85Clonus (HP:0002169)2.11357818
86Memory impairment (HP:0002354)2.09271248
87Morphological abnormality of the pyramidal tract (HP:0002062)2.05689132
88Increased circulating renin level (HP:0000848)2.04649834
89Generalized myoclonic seizures (HP:0002123)2.04137942
90Absent speech (HP:0001344)2.03294479
91Fetal akinesia sequence (HP:0001989)1.99517085
92Polyphagia (HP:0002591)1.97923748
93Slow saccadic eye movements (HP:0000514)1.96670738
94Abnormal EKG (HP:0003115)1.96258101
95Choreoathetosis (HP:0001266)1.93350778
96Spastic tetraparesis (HP:0001285)1.93114292
97Neuroendocrine neoplasm (HP:0100634)1.92852570
98Central scotoma (HP:0000603)1.92592325
99Rigidity (HP:0002063)1.92542432
100Neuronal loss in central nervous system (HP:0002529)1.92482164
101Degeneration of the lateral corticospinal tracts (HP:0002314)1.92023836
102Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.92023836
103Rapidly progressive (HP:0003678)1.91934510
104Gait ataxia (HP:0002066)1.90986236
105Ankyloglossia (HP:0010296)1.90072049
106CNS hypomyelination (HP:0003429)1.86963618
107Split foot (HP:0001839)1.86643909
108Inability to walk (HP:0002540)1.85135579
109Incomplete penetrance (HP:0003829)1.84553682
110Apathy (HP:0000741)1.84256296
111Inappropriate behavior (HP:0000719)1.83082324
112Hypercortisolism (HP:0001578)1.82532951
113Macroorchidism (HP:0000053)1.81631148
114Abnormality of saccadic eye movements (HP:0000570)1.80034229
115Lower limb asymmetry (HP:0100559)1.79412420
116Psychosis (HP:0000709)1.78910567
117Neoplasm of the peripheral nervous system (HP:0100007)1.78411364
118Intellectual disability, profound (HP:0002187)1.77965719
119Dementia (HP:0000726)1.71495357
120Iris hypopigmentation (HP:0007730)1.68000511

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.26293615
2NTRK34.14546405
3EPHA43.76775538
4MARK13.41297999
5MAP3K42.80120107
6MINK12.74008533
7DAPK22.72920699
8PAK62.67052622
9PRKD32.49452482
10KSR22.46738800
11CAMKK12.19337687
12MAP2K72.16841074
13NTRK22.09584492
14NTRK11.97367929
15MAP2K41.82942947
16KSR11.65959682
17MAP3K121.61143665
18CDK51.60808891
19STK381.52415694
20DAPK11.51995321
21MAP3K21.51115099
22CDK191.46241937
23TAOK11.45856261
24GRK51.38515346
25RIPK41.29355122
26UHMK11.28562047
27MAP3K111.26604482
28TYRO31.25222426
29PHKG11.24948085
30PHKG21.24948085
31CAMKK21.22664151
32SIK21.22609618
33PLK21.21100642
34ARAF1.17193961
35PRKCG1.16337780
36PRPF4B1.15742131
37LATS21.14833614
38PRKCH1.10917517
39MAP3K131.10647177
40ALK1.06925502
41MAPK131.06015405
42CAMK11.05201117
43FES1.04620128
44TNIK1.04133407
45RET1.03634352
46STK110.98820734
47CDK180.98131881
48CDK150.97142602
49CDK140.95543711
50PAK30.94400996
51LMTK20.91652821
52RIPK10.91086666
53PINK10.89342859
54BMPR20.89094028
55SGK2230.88002325
56SGK4940.88002325
57NEK10.87584724
58PKN10.86019976
59CDK11A0.85281981
60MARK20.79077295
61PDK10.78944747
62PNCK0.78102787
63RAF10.78059656
64SGK30.76714075
65MAP3K10.76151525
66* CAMK2A0.71583043
67PDPK10.69696142
68SGK20.67919827
69SCYL20.67775501
70CSNK1G20.67082625
71TESK10.65888225
72CASK0.65625845
73SGK10.64277400
74DYRK1A0.63040865
75OXSR10.60886196
76CAMK1G0.59004252
77MAP3K70.57409839
78CAMK2B0.56611181
79PRKCZ0.55356730
80CDC42BPA0.54924808
81PTK2B0.53030405
82DMPK0.52884410
83LIMK10.51583641
84RPS6KA30.51085297
85CAMK40.50000357
86BRSK10.48960064
87SYK0.47788141
88FYN0.47284006
89TNK20.44944188
90WNK10.44357310
91JAK20.43356584
92DAPK30.42660573
93MAPK100.42544262
94MAPK40.40730585
95MAP2K10.40200716
96JAK10.39997544
97TRIB30.39793249
98RPS6KA20.39518832
99SIK30.38402822
100MAPK120.37166699
101CAMK2G0.36533397
102WNK30.36322040
103FER0.35206020
104CCNB10.34802648
105PRKCE0.34795214
106CAMK2D0.34286769
107MAPK80.34249622
108BRAF0.34139340
109PRKCA0.33892126
110ROCK20.33126642
111NEK60.32997099
112PRKD10.32102812
113MAP2K60.30363956
114PRKD20.29686751
115PRKCB0.29172232
116GRK60.28498815
117PRKG10.27810648
118ICK0.27806907
119PRKACA0.26323385
120FGFR20.25628839
121SRC0.25142289

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047213.24034288
2Nicotine addiction_Homo sapiens_hsa050333.12224048
3Olfactory transduction_Homo sapiens_hsa047402.78379600
4Circadian entrainment_Homo sapiens_hsa047132.63232358
5GABAergic synapse_Homo sapiens_hsa047272.62801320
6Long-term potentiation_Homo sapiens_hsa047202.54167542
7Glutamatergic synapse_Homo sapiens_hsa047242.46577610
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.44895233
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41554676
10Morphine addiction_Homo sapiens_hsa050322.34877081
11Amphetamine addiction_Homo sapiens_hsa050312.31378360
12Dopaminergic synapse_Homo sapiens_hsa047282.11997706
13* Insulin secretion_Homo sapiens_hsa049112.01801159
14* Salivary secretion_Homo sapiens_hsa049701.95846725
15Cholinergic synapse_Homo sapiens_hsa047251.95113729
16Gastric acid secretion_Homo sapiens_hsa049711.93532217
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.91516763
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74648728
19Nitrogen metabolism_Homo sapiens_hsa009101.67791478
20Oxytocin signaling pathway_Homo sapiens_hsa049211.63418600
21Cocaine addiction_Homo sapiens_hsa050301.62444032
22Renin secretion_Homo sapiens_hsa049241.58072689
23Long-term depression_Homo sapiens_hsa047301.56477507
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.55354607
25Taste transduction_Homo sapiens_hsa047421.49541084
26GnRH signaling pathway_Homo sapiens_hsa049121.45882369
27Serotonergic synapse_Homo sapiens_hsa047261.44837518
28Calcium signaling pathway_Homo sapiens_hsa040201.39763141
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.38464458
30* Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.37689634
31Type II diabetes mellitus_Homo sapiens_hsa049301.37288279
32Gap junction_Homo sapiens_hsa045401.32335339
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26706387
34cAMP signaling pathway_Homo sapiens_hsa040241.25460062
35Glioma_Homo sapiens_hsa052141.22999454
36Estrogen signaling pathway_Homo sapiens_hsa049151.20989299
37Phototransduction_Homo sapiens_hsa047441.20294866
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14381598
39Collecting duct acid secretion_Homo sapiens_hsa049661.10462919
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06928816
41ErbB signaling pathway_Homo sapiens_hsa040121.06331078
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04739137
43Axon guidance_Homo sapiens_hsa043601.02579507
44Melanogenesis_Homo sapiens_hsa049161.02277061
45Dorso-ventral axis formation_Homo sapiens_hsa043200.94377542
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90467641
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.89549823
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.89442647
49Oocyte meiosis_Homo sapiens_hsa041140.87405812
50Pancreatic secretion_Homo sapiens_hsa049720.86778009
51Carbohydrate digestion and absorption_Homo sapiens_hsa049730.84813268
52Thyroid hormone synthesis_Homo sapiens_hsa049180.84624592
53Cardiac muscle contraction_Homo sapiens_hsa042600.81214782
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80625816
55Neurotrophin signaling pathway_Homo sapiens_hsa047220.80251740
56Vibrio cholerae infection_Homo sapiens_hsa051100.78812037
57Dilated cardiomyopathy_Homo sapiens_hsa054140.75696203
58VEGF signaling pathway_Homo sapiens_hsa043700.74799808
59Choline metabolism in cancer_Homo sapiens_hsa052310.73884595
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72249733
61mTOR signaling pathway_Homo sapiens_hsa041500.70974080
62MAPK signaling pathway_Homo sapiens_hsa040100.70469354
63Vitamin B6 metabolism_Homo sapiens_hsa007500.69972391
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.68083814
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.67989526
66Glucagon signaling pathway_Homo sapiens_hsa049220.63768630
67Endocytosis_Homo sapiens_hsa041440.62686561
68Bile secretion_Homo sapiens_hsa049760.62000963
69Endometrial cancer_Homo sapiens_hsa052130.60778575
70Sphingolipid signaling pathway_Homo sapiens_hsa040710.59288257
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59048926
72Ras signaling pathway_Homo sapiens_hsa040140.57922134
73Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57866287
74Rap1 signaling pathway_Homo sapiens_hsa040150.55294871
75Non-small cell lung cancer_Homo sapiens_hsa052230.54771236
76Insulin signaling pathway_Homo sapiens_hsa049100.53966074
77Circadian rhythm_Homo sapiens_hsa047100.52666711
78Renal cell carcinoma_Homo sapiens_hsa052110.52554621
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52436372
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50890477
81Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50553523
82Type I diabetes mellitus_Homo sapiens_hsa049400.50162999
83Prion diseases_Homo sapiens_hsa050200.49809812
84Inositol phosphate metabolism_Homo sapiens_hsa005620.49506741
85Alcoholism_Homo sapiens_hsa050340.48735680
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.46472587
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45502292
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.41925698
89Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41864509
90Chemokine signaling pathway_Homo sapiens_hsa040620.41852215
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41806280
92Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40485725
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.38314551
94Wnt signaling pathway_Homo sapiens_hsa043100.38125710
95Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38065492
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37700528
97B cell receptor signaling pathway_Homo sapiens_hsa046620.37420128
98T cell receptor signaling pathway_Homo sapiens_hsa046600.35016040
99Prolactin signaling pathway_Homo sapiens_hsa049170.34353594
100Central carbon metabolism in cancer_Homo sapiens_hsa052300.33093303
101Colorectal cancer_Homo sapiens_hsa052100.32180624
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31367006
103Ovarian steroidogenesis_Homo sapiens_hsa049130.31327102
104* SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31293218
105Regulation of autophagy_Homo sapiens_hsa041400.30980320
106Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.27171391
107Platelet activation_Homo sapiens_hsa046110.26892375
108Tuberculosis_Homo sapiens_hsa051520.25825616
109AMPK signaling pathway_Homo sapiens_hsa041520.24197544
110Osteoclast differentiation_Homo sapiens_hsa043800.21889234
111African trypanosomiasis_Homo sapiens_hsa051430.21610090
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.21280990
113Alzheimers disease_Homo sapiens_hsa050100.20624292

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