SYT2

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 synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuronal action potential propagation (GO:0019227)6.46308203
2synaptic vesicle maturation (GO:0016188)6.08211605
3locomotory exploration behavior (GO:0035641)5.65936721
4cellular potassium ion homeostasis (GO:0030007)5.59985131
5sodium ion export (GO:0071436)5.58831485
6neuromuscular process controlling posture (GO:0050884)5.57726580
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.55286014
8regulation of short-term neuronal synaptic plasticity (GO:0048172)5.55238380
9glycine transport (GO:0015816)5.51973384
10cerebellar Purkinje cell differentiation (GO:0021702)5.43294808
11gamma-aminobutyric acid transport (GO:0015812)5.31622636
12response to pheromone (GO:0019236)5.15874389
13cerebellar granule cell differentiation (GO:0021707)5.03638014
14regulation of synaptic vesicle exocytosis (GO:2000300)4.98861022
15synaptic vesicle exocytosis (GO:0016079)4.94475251
16* neurotransmitter secretion (GO:0007269)4.92060830
17glutamate secretion (GO:0014047)4.74342451
18positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.73434869
19cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.66530755
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.62147056
21membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.56606627
22vocalization behavior (GO:0071625)4.54868751
23positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.48335829
24regulation of synaptic vesicle transport (GO:1902803)4.41726115
25potassium ion import (GO:0010107)4.31541674
26synaptic vesicle docking involved in exocytosis (GO:0016081)4.31363694
27cell differentiation in hindbrain (GO:0021533)4.27711065
28postsynaptic membrane organization (GO:0001941)4.27565147
29glutamate receptor signaling pathway (GO:0007215)4.19573075
30synaptic transmission, glutamatergic (GO:0035249)4.18400342
31regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.18118787
32positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.16404631
33cell communication by electrical coupling (GO:0010644)4.15855869
34regulation of synapse maturation (GO:0090128)4.15609841
35regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.15370604
36axon ensheathment in central nervous system (GO:0032291)4.12973468
37central nervous system myelination (GO:0022010)4.12973468
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.10051654
39potassium ion homeostasis (GO:0055075)4.07977050
40neuron-neuron synaptic transmission (GO:0007270)4.06542190
41* neurotransmitter transport (GO:0006836)4.05848162
42membrane depolarization during action potential (GO:0086010)4.00877683
43exploration behavior (GO:0035640)3.97488815
44neuromuscular process controlling balance (GO:0050885)3.93640433
45G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.88387169
46adult walking behavior (GO:0007628)3.87630464
47long-term memory (GO:0007616)3.83957275
48positive regulation of potassium ion transmembrane transport (GO:1901381)3.81537276
49L-amino acid import (GO:0043092)3.80873680
50dendritic spine morphogenesis (GO:0060997)3.75459992
51proline transport (GO:0015824)3.74428390
52neurofilament cytoskeleton organization (GO:0060052)3.72735647
53* regulation of neurotransmitter levels (GO:0001505)3.70981824
54regulation of long-term neuronal synaptic plasticity (GO:0048169)3.69956256
55positive regulation of dendritic spine morphogenesis (GO:0061003)3.69287082
56regulation of neuronal synaptic plasticity (GO:0048168)3.69006567
57regulation of glutamate receptor signaling pathway (GO:1900449)3.67745892
58layer formation in cerebral cortex (GO:0021819)3.66748352
59positive regulation of dendritic spine development (GO:0060999)3.64936776
60activation of protein kinase A activity (GO:0034199)3.64130082
61cellular sodium ion homeostasis (GO:0006883)3.62390695
62presynaptic membrane organization (GO:0097090)3.61336581
63transmission of nerve impulse (GO:0019226)3.61313567
64cochlea development (GO:0090102)3.54114524
65auditory behavior (GO:0031223)3.53161515
66negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.46647922
67gamma-aminobutyric acid signaling pathway (GO:0007214)3.46589687
68regulation of synapse structural plasticity (GO:0051823)3.44742087
69positive regulation of potassium ion transport (GO:0043268)3.43240653
70neurotransmitter uptake (GO:0001504)3.42265310
71presynaptic membrane assembly (GO:0097105)3.41452693
72regulation of calcium ion-dependent exocytosis (GO:0017158)3.41380996
73protein localization to synapse (GO:0035418)3.40687226
74membrane hyperpolarization (GO:0060081)3.40337958
75cerebellar Purkinje cell layer development (GO:0021680)3.39960855
76regulation of neurotransmitter secretion (GO:0046928)3.39629644
77neuromuscular process (GO:0050905)3.38874747
78negative regulation of synaptic transmission, GABAergic (GO:0032229)3.38257453
79negative regulation of microtubule polymerization (GO:0031115)3.38205281
80synaptic vesicle endocytosis (GO:0048488)3.36146003
81regulation of dendritic spine morphogenesis (GO:0061001)3.35590706
82regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.35579448
83positive regulation of synapse maturation (GO:0090129)3.32022462
84axon cargo transport (GO:0008088)3.31955233
85regulation of excitatory postsynaptic membrane potential (GO:0060079)3.31381601
86prepulse inhibition (GO:0060134)3.27259236
87neuromuscular synaptic transmission (GO:0007274)3.26039691
88regulation of neurotransmitter transport (GO:0051588)3.25552716
89membrane depolarization (GO:0051899)3.22780935
90regulation of voltage-gated calcium channel activity (GO:1901385)3.22683604
91membrane repolarization (GO:0086009)3.22320411
92regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.21199795
93regulation of postsynaptic membrane potential (GO:0060078)3.18869588
94cell communication involved in cardiac conduction (GO:0086065)3.16959868
95mating behavior (GO:0007617)3.16561809
96positive regulation of membrane potential (GO:0045838)3.16511627
97chemosensory behavior (GO:0007635)3.16468013
98establishment of nucleus localization (GO:0040023)3.15412110
99cell migration in hindbrain (GO:0021535)3.15152303
100detection of temperature stimulus (GO:0016048)3.14501216
101regulation of synaptic transmission (GO:0050804)3.14470789
102mechanosensory behavior (GO:0007638)3.13744102
103regulation of ARF protein signal transduction (GO:0032012)3.12868647
104dendrite morphogenesis (GO:0048813)3.12732218
105response to auditory stimulus (GO:0010996)3.08231045
106long-term synaptic potentiation (GO:0060291)3.08170238
107neuron cell-cell adhesion (GO:0007158)3.07233601
108neurotransmitter-gated ion channel clustering (GO:0072578)3.02159209
109regulation of synaptic transmission, glutamatergic (GO:0051966)3.01170610
110regulation of vesicle fusion (GO:0031338)3.01000656
111amino acid import (GO:0043090)3.00624144
112regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.99445274
113* synaptic transmission (GO:0007268)2.98304539
114serotonin metabolic process (GO:0042428)2.97821763
115cytoskeletal anchoring at plasma membrane (GO:0007016)2.97568279
116vesicle docking involved in exocytosis (GO:0006904)2.96882208
117vesicle transport along microtubule (GO:0047496)2.96828012
118positive regulation of neurotransmitter secretion (GO:0001956)2.96495929
119neuronal ion channel clustering (GO:0045161)2.94704783
120detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.92920833
121detection of temperature stimulus involved in sensory perception (GO:0050961)2.92920833
122calcium ion-dependent exocytosis (GO:0017156)2.92344131
123regulation of synaptic plasticity (GO:0048167)2.91465231
124acidic amino acid transport (GO:0015800)2.91181662
125long term synaptic depression (GO:0060292)2.90106398

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.46120912
2* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.25584019
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08515887
4RNF2_18974828_ChIP-Seq_MESCs_Mouse2.97194302
5EZH2_18974828_ChIP-Seq_MESCs_Mouse2.97194302
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96427597
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.83127306
8* DROSHA_22980978_ChIP-Seq_HELA_Human2.79509758
9IKZF1_21737484_ChIP-ChIP_HCT116_Human2.71176567
10* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.68210681
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67409319
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61771266
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.53857191
14* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53383846
15* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.51948019
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48605421
17* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45821802
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.43930793
19REST_18959480_ChIP-ChIP_MESCs_Mouse2.40624715
20* GBX2_23144817_ChIP-Seq_PC3_Human2.38047391
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.37620791
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.27371191
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.22072476
24EZH2_27304074_Chip-Seq_ESCs_Mouse2.19314359
25* RNF2_27304074_Chip-Seq_ESCs_Mouse2.14370438
26ERG_21242973_ChIP-ChIP_JURKAT_Human1.85943727
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.79172224
28GATA1_26923725_Chip-Seq_HPCs_Mouse1.75355040
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74330136
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.71006230
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68692109
32AR_21572438_ChIP-Seq_LNCaP_Human1.59682788
33SMAD4_21799915_ChIP-Seq_A2780_Human1.53294375
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.51988483
35* KDM2B_26808549_Chip-Seq_K562_Human1.48361370
36* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.48300512
37ZNF274_21170338_ChIP-Seq_K562_Hela1.44412199
38DNAJC2_21179169_ChIP-ChIP_NT2_Human1.42844155
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.39237260
40THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37656782
41NR3C1_23031785_ChIP-Seq_PC12_Mouse1.36749341
42RNF2_27304074_Chip-Seq_NSC_Mouse1.32054366
43* AR_19668381_ChIP-Seq_PC3_Human1.29645605
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.29614681
45TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26726803
46POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26726803
47* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.24100909
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22901831
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.22596950
50STAT3_23295773_ChIP-Seq_U87_Human1.21391712
51* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21210991
52SOX2_21211035_ChIP-Seq_LN229_Gbm1.19971854
53WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19383481
54ZFP281_18757296_ChIP-ChIP_E14_Mouse1.17477567
55* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17359592
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16656041
57* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.11534526
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.10933159
59TAF15_26573619_Chip-Seq_HEK293_Human1.10117431
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.09922494
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09913776
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.09011149
63AR_25329375_ChIP-Seq_VCAP_Human1.08725391
64WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07760078
65TET1_21490601_ChIP-Seq_MESCs_Mouse1.07694498
66GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07635697
67* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06590930
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04997146
69ZFP57_27257070_Chip-Seq_ESCs_Mouse1.04893342
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.04827026
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.04450992
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00418642
73TCF4_23295773_ChIP-Seq_U87_Human0.98140181
74SMAD3_21741376_ChIP-Seq_ESCs_Human0.97590242
75CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97159371
76YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96331190
77SMAD4_21741376_ChIP-Seq_HESCs_Human0.96027898
78ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95832466
79ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95388202
80* TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94475909
81CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93946070
82* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93031297
83* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92251495
84MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91612740
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91436784
86* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91224209
87TOP2B_26459242_ChIP-Seq_MCF-7_Human0.90539997
88CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90312937
89KLF4_19829295_ChIP-Seq_ESCs_Human0.90141232
90OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89356801
91RXR_22108803_ChIP-Seq_LS180_Human0.89340211
92P300_19829295_ChIP-Seq_ESCs_Human0.89111195
93PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88885249
94OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88574730
95PIAS1_25552417_ChIP-Seq_VCAP_Human0.88363706
96CBX2_27304074_Chip-Seq_ESCs_Mouse0.88306960
97STAT3_18555785_ChIP-Seq_MESCs_Mouse0.86910845
98TP53_16413492_ChIP-PET_HCT116_Human0.86871230
99* DPY_21335234_ChIP-Seq_ESCs_Mouse0.86741425
100KDM2B_26808549_Chip-Seq_SUP-B15_Human0.86404187
101ESR2_21235772_ChIP-Seq_MCF-7_Human0.86392960
102AHR_22903824_ChIP-Seq_MCF-7_Human0.86315383
103P53_22127205_ChIP-Seq_FIBROBLAST_Human0.86107980
104BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85804095
105* SMAD4_21741376_ChIP-Seq_EPCs_Human0.85691117
106SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.85212200
107* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85062938
108* OCT4_19829295_ChIP-Seq_ESCs_Human0.84228602
109* SMAD3_21741376_ChIP-Seq_EPCs_Human0.84191593
110ARNT_22903824_ChIP-Seq_MCF-7_Human0.83697449
111SOX9_26525672_Chip-Seq_HEART_Mouse0.82976348
112ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82720420
113DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.82447035
114SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.81524473
115CTCF_27219007_Chip-Seq_Bcells_Human0.81354688
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.80249484
117RUNX1_26923725_Chip-Seq_HPCs_Mouse0.80191675
118* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.80001546
119* RUNX2_22187159_ChIP-Seq_PCA_Human0.80001088
120SMAD4_21741376_ChIP-Seq_ESCs_Human0.78531857
121STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.77393381
122* SMAD3_21741376_ChIP-Seq_HESCs_Human0.77373344

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.59500878
2MP0009046_muscle_twitch4.61101749
3* MP0003635_abnormal_synaptic_transmissio3.94036129
4MP0003880_abnormal_central_pattern3.84692115
5MP0004270_analgesia3.53052681
6MP0009745_abnormal_behavioral_response3.25375555
7MP0002064_seizures3.24521218
8MP0002272_abnormal_nervous_system3.16196761
9MP0001968_abnormal_touch/_nociception3.15449167
10MP0005423_abnormal_somatic_nervous2.99986049
11MP0002734_abnormal_mechanical_nocicepti2.96983345
12MP0002735_abnormal_chemical_nociception2.88313563
13MP0002063_abnormal_learning/memory/cond2.81270756
14* MP0008569_lethality_at_weaning2.77334959
15MP0002736_abnormal_nociception_after2.60786195
16MP0001486_abnormal_startle_reflex2.58740045
17MP0002067_abnormal_sensory_capabilities2.56477085
18MP0002572_abnormal_emotion/affect_behav2.48640728
19MP0002733_abnormal_thermal_nociception2.36276907
20MP0001501_abnormal_sleep_pattern2.33614719
21MP0001440_abnormal_grooming_behavior2.29456899
22MP0001970_abnormal_pain_threshold2.25950915
23MP0004142_abnormal_muscle_tone2.21240889
24MP0002184_abnormal_innervation2.19077720
25MP0004145_abnormal_muscle_electrophysio2.07621744
26MP0004858_abnormal_nervous_system2.07278883
27MP0008877_abnormal_DNA_methylation2.03537985
28MP0003329_amyloid_beta_deposits2.02000533
29MP0002822_catalepsy1.93943103
30MP0000955_abnormal_spinal_cord1.90053217
31MP0002909_abnormal_adrenal_gland1.82895158
32MP0004924_abnormal_behavior1.79307321
33MP0005386_behavior/neurological_phenoty1.79307321
34MP0004811_abnormal_neuron_physiology1.77233038
35MP0004885_abnormal_endolymph1.76140188
36MP0004147_increased_porphyrin_level1.71142642
37MP0006276_abnormal_autonomic_nervous1.70766192
38MP0003633_abnormal_nervous_system1.64976409
39MP0002557_abnormal_social/conspecific_i1.63253306
40* MP0002066_abnormal_motor_capabilities/c1.55390524
41MP0003631_nervous_system_phenotype1.45108765
42MP0003123_paternal_imprinting1.44347512
43MP0002882_abnormal_neuron_morphology1.41089586
44MP0003879_abnormal_hair_cell1.39791042
45MP0000778_abnormal_nervous_system1.37589746
46MP0000920_abnormal_myelination1.36526155
47MP0003690_abnormal_glial_cell1.36172982
48MP0003632_abnormal_nervous_system1.35281671
49MP0004742_abnormal_vestibular_system1.29546034
50MP0002229_neurodegeneration1.26712785
51MP0006292_abnormal_olfactory_placode1.21576703
52MP0008872_abnormal_physiological_respon1.16659760
53MP0005646_abnormal_pituitary_gland1.14082714
54MP0009780_abnormal_chondrocyte_physiolo1.13719307
55MP0001984_abnormal_olfaction1.11973927
56MP0001502_abnormal_circadian_rhythm1.08711590
57MP0003283_abnormal_digestive_organ1.08171380
58MP0003787_abnormal_imprinting1.04752070
59MP0003634_abnormal_glial_cell1.03013962
60MP0002152_abnormal_brain_morphology1.02048893
61MP0001299_abnormal_eye_distance/1.02011336
62MP0000013_abnormal_adipose_tissue1.00329002
63MP0000569_abnormal_digit_pigmentation0.98852867
64MP0001485_abnormal_pinna_reflex0.97139297
65MP0000751_myopathy0.94876235
66MP0000604_amyloidosis0.94573355
67MP0004043_abnormal_pH_regulation0.90953008
68MP0003137_abnormal_impulse_conducting0.90230045
69MP0004215_abnormal_myocardial_fiber0.88005245
70MP0005645_abnormal_hypothalamus_physiol0.85886214
71MP0005623_abnormal_meninges_morphology0.84678079
72MP0001963_abnormal_hearing_physiology0.84080357
73MP0000566_synostosis0.83685051
74MP0003122_maternal_imprinting0.83326155
75MP0001986_abnormal_taste_sensitivity0.82138223
76MP0003121_genomic_imprinting0.82067866
77MP0008874_decreased_physiological_sensi0.81626029
78MP0002752_abnormal_somatic_nervous0.79767271
79MP0003890_abnormal_embryonic-extraembry0.78313220
80MP0005167_abnormal_blood-brain_barrier0.77310496
81MP0001177_atelectasis0.77280992
82MP0005083_abnormal_biliary_tract0.77178771
83MP0002069_abnormal_eating/drinking_beha0.76659734
84MP0004085_abnormal_heartbeat0.76483044
85MP0002638_abnormal_pupillary_reflex0.75677127
86MP0001346_abnormal_lacrimal_gland0.75532000
87MP0003861_abnormal_nervous_system0.74089915
88MP0000631_abnormal_neuroendocrine_gland0.71914358
89MP0001348_abnormal_lacrimal_gland0.71385260
90MP0005551_abnormal_eye_electrophysiolog0.71374708
91MP0003172_abnormal_lysosome_physiology0.71273376
92MP0005535_abnormal_body_temperature0.71231494
93MP0001529_abnormal_vocalization0.70500616
94MP0000747_muscle_weakness0.69603913
95MP0005409_darkened_coat_color0.69459915
96MP0010386_abnormal_urinary_bladder0.68492588
97MP0008961_abnormal_basal_metabolism0.66892285
98MP0003045_fibrosis0.65930111
99MP0004484_altered_response_of0.65881707
100MP0001905_abnormal_dopamine_level0.63796029
101MP0005394_taste/olfaction_phenotype0.60145681
102MP0005499_abnormal_olfactory_system0.60145681
103* MP0010769_abnormal_survival0.60134834
104MP0010770_preweaning_lethality0.58277810
105MP0002082_postnatal_lethality0.58277810
106MP0002089_abnormal_postnatal_growth/wei0.58176462
107MP0001188_hyperpigmentation0.56891259
108* MP0010768_mortality/aging0.56447737
109MP0003646_muscle_fatigue0.56435102
110MP0001943_abnormal_respiration0.55507264
111MP0009672_abnormal_birth_weight0.55286915
112MP0003119_abnormal_digestive_system0.54505116
113MP0002090_abnormal_vision0.54496915
114MP0004233_abnormal_muscle_weight0.54112941
115MP0000579_abnormal_nail_morphology0.51784722
116MP0000026_abnormal_inner_ear0.50233061
117* MP0003956_abnormal_body_size0.49171773

Predicted human phenotypes

RankGene SetZ-score
1Action tremor (HP:0002345)6.92362027
2Myokymia (HP:0002411)6.91939279
3Focal motor seizures (HP:0011153)6.65422171
4Progressive cerebellar ataxia (HP:0002073)6.08269936
5Focal seizures (HP:0007359)5.44106983
6Visual hallucinations (HP:0002367)5.40592041
7Atonic seizures (HP:0010819)5.10717429
8Febrile seizures (HP:0002373)4.92881529
9Supranuclear gaze palsy (HP:0000605)4.57209738
10Gaze-evoked nystagmus (HP:0000640)4.48225669
11Scanning speech (HP:0002168)4.25662597
12Absence seizures (HP:0002121)4.06624096
13Dysdiadochokinesis (HP:0002075)3.99083589
14Hemiplegia (HP:0002301)3.89027310
15Intention tremor (HP:0002080)3.82009475
16Epileptic encephalopathy (HP:0200134)3.77168291
17Truncal ataxia (HP:0002078)3.73754799
18Cerebral hypomyelination (HP:0006808)3.70403010
19Dysmetric saccades (HP:0000641)3.70034005
20Impaired smooth pursuit (HP:0007772)3.66411509
21Generalized tonic-clonic seizures (HP:0002069)3.64955300
22Dysmetria (HP:0001310)3.57347159
23Ventricular fibrillation (HP:0001663)3.57265992
24Dialeptic seizures (HP:0011146)3.52492784
25Ankle clonus (HP:0011448)3.38540468
26Limb dystonia (HP:0002451)3.33544071
27Abnormality of ocular smooth pursuit (HP:0000617)3.30770156
28Depression (HP:0000716)3.23775664
29Genetic anticipation (HP:0003743)3.17642543
30Obstructive sleep apnea (HP:0002870)3.15477637
31Neurofibrillary tangles (HP:0002185)3.15130009
32Broad-based gait (HP:0002136)3.12572112
33Annular pancreas (HP:0001734)3.11791635
34Poor eye contact (HP:0000817)3.08310781
35Hemiparesis (HP:0001269)3.07928647
36Abnormal eating behavior (HP:0100738)3.07102212
37Abnormality of the lower motor neuron (HP:0002366)3.05620765
38Tetraplegia (HP:0002445)3.05603402
39Postural tremor (HP:0002174)3.01055780
40Abnormality of saccadic eye movements (HP:0000570)2.97897665
41Diplopia (HP:0000651)2.94495282
42Abnormality of binocular vision (HP:0011514)2.94495282
43Abnormal social behavior (HP:0012433)2.93620320
44Impaired social interactions (HP:0000735)2.93620320
45Postural instability (HP:0002172)2.93571910
46Status epilepticus (HP:0002133)2.93191772
47Pheochromocytoma (HP:0002666)2.91453644
48Anxiety (HP:0000739)2.87932846
49Spastic gait (HP:0002064)2.75414204
50Impaired vibration sensation in the lower limbs (HP:0002166)2.71855831
51Ulnar claw (HP:0001178)2.66297395
52Bundle branch block (HP:0011710)2.65267094
53Urinary bladder sphincter dysfunction (HP:0002839)2.65163263
54Urinary urgency (HP:0000012)2.62358787
55Epileptiform EEG discharges (HP:0011182)2.62159804
56Mutism (HP:0002300)2.61199297
57Sleep apnea (HP:0010535)2.53256740
58Neuroendocrine neoplasm (HP:0100634)2.48155851
59CNS hypomyelination (HP:0003429)2.45613752
60Agitation (HP:0000713)2.44223061
61Abnormality of the corticospinal tract (HP:0002492)2.38809821
62Cerebral inclusion bodies (HP:0100314)2.35045829
63Degeneration of the lateral corticospinal tracts (HP:0002314)2.32831817
64Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.32831817
65Limb ataxia (HP:0002070)2.32369418
66Insomnia (HP:0100785)2.31948459
67Horizontal nystagmus (HP:0000666)2.30849182
68EEG with generalized epileptiform discharges (HP:0011198)2.30415993
69Pointed chin (HP:0000307)2.30345321
70Gait ataxia (HP:0002066)2.28242018
71Torticollis (HP:0000473)2.27813066
72Insidious onset (HP:0003587)2.27075922
73Termporal pattern (HP:0011008)2.27075922
74Akinesia (HP:0002304)2.25930900
75Spinal canal stenosis (HP:0003416)2.25822968
76Clonus (HP:0002169)2.23949298
77Progressive inability to walk (HP:0002505)2.22406114
78Myotonia (HP:0002486)2.22131206
79Fetal akinesia sequence (HP:0001989)2.22036402
80Peripheral hypomyelination (HP:0007182)2.21878704
81Lower limb asymmetry (HP:0100559)2.19989356
82Choreoathetosis (HP:0001266)2.19455909
83Neuronal loss in central nervous system (HP:0002529)2.17776504
84Hypsarrhythmia (HP:0002521)2.17207597
85Slow saccadic eye movements (HP:0000514)2.15680740
86Drooling (HP:0002307)2.13944304
87Bradykinesia (HP:0002067)2.12866925
88Amblyopia (HP:0000646)2.09400338
89Morphological abnormality of the pyramidal tract (HP:0002062)2.08050537
90Muscle stiffness (HP:0003552)2.05446017
91Stereotypic behavior (HP:0000733)2.05193099
92Focal dystonia (HP:0004373)2.04650921
93Papilledema (HP:0001085)2.04534163
94Slow progression (HP:0003677)2.01645564
95Apathy (HP:0000741)2.00132325
96Onion bulb formation (HP:0003383)1.99663233
97Megalencephaly (HP:0001355)1.95872719
98Hammertoe (HP:0001765)1.95792777
99Excessive salivation (HP:0003781)1.95454379
100Psychosis (HP:0000709)1.94680358
101Lower limb muscle weakness (HP:0007340)1.92268736
102Incomplete penetrance (HP:0003829)1.91950895
103Delusions (HP:0000746)1.89561456
104Neoplasm of the peripheral nervous system (HP:0100007)1.88806899
105Impaired vibratory sensation (HP:0002495)1.88440726
106Aplasia involving bones of the upper limbs (HP:0009823)1.88400759
107Aplasia of the phalanges of the hand (HP:0009802)1.88400759
108Aplasia involving bones of the extremities (HP:0009825)1.88400759
109Failure to thrive in infancy (HP:0001531)1.88326075
110Spastic paraplegia (HP:0001258)1.88267739
111Paraplegia (HP:0010550)1.87728705
112Craniofacial dystonia (HP:0012179)1.85580385
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.84515631
114Dysphonia (HP:0001618)1.84107225
115Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.82363759
116Abnormal EKG (HP:0003115)1.81509950
117Prolonged QT interval (HP:0001657)1.80946712
118Aqueductal stenosis (HP:0002410)1.80659343
119Hyperventilation (HP:0002883)1.80389694
120Rigidity (HP:0002063)1.76343524
121Diminished motivation (HP:0000745)1.74942567
122Amyotrophic lateral sclerosis (HP:0007354)1.73030354
123Spastic tetraparesis (HP:0001285)1.69533049
124Hand muscle atrophy (HP:0009130)1.69282495
125Hypercortisolism (HP:0001578)1.68532084
126Heart block (HP:0012722)1.68478344
127Septo-optic dysplasia (HP:0100842)1.67760347

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.46807832
2MAP3K93.56788613
3MINK13.37491164
4MAP3K43.18434382
5CAMKK22.98953919
6CAMKK12.69340681
7STK382.46087973
8MAP2K72.45837231
9MAP2K42.35648714
10PAK62.33884221
11LMTK22.16723489
12NTRK12.16088514
13MARK12.09969314
14NTRK22.04479342
15RIPK11.98775150
16CDK191.87948694
17MAP3K121.83766560
18KSR21.78274334
19PINK11.65278395
20DAPK21.59349739
21UHMK11.48252664
22SGK4941.46493733
23SGK2231.46493733
24RIPK41.45800052
25PRKD31.44218563
26EPHA41.43885017
27PHKG21.41313983
28PHKG11.41313983
29CDK51.35713471
30PRKCG1.34660989
31GRK51.33731122
32TYRO31.21929188
33SGK21.19528863
34RET1.18339687
35PRKCH1.16396508
36SGK31.15110741
37MAPK131.10675184
38ALK1.07727872
39CDC42BPA1.07631710
40MAP3K21.05660175
41PRPF4B1.04403211
42PNCK1.04376258
43TNK21.01654019
44LATS21.00437899
45STK110.99900492
46LIMK10.96827236
47BRAF0.95922264
48CAMK2G0.95058417
49CAMK10.91746162
50OXSR10.91227235
51SCYL20.89937170
52CDK150.89052273
53CDK180.88512074
54TNIK0.86105551
55NEK10.85934224
56KSR10.85746611
57SIK20.85447819
58FES0.81984147
59CDK140.80512641
60CDK11A0.77662507
61PLK20.77636955
62ROCK20.75145710
63NEK60.74480711
64CAMK1D0.73167893
65ARAF0.72118439
66BRSK10.71627353
67PDK10.70933569
68PDPK10.69176278
69CAMK2B0.67752487
70CAMK2A0.67719988
71MAPKAPK50.67045062
72TAOK10.66489238
73RAF10.65169718
74PKN10.64307816
75CSNK1G20.63427588
76* WNK10.63362202
77CAMK1G0.62490931
78SGK10.62471577
79CAMK40.61869876
80CAMK2D0.61830667
81DAPK10.59097830
82MAP3K130.58146066
83RPS6KA30.57654611
84MAPK100.56517078
85CDK120.55861757
86MAP3K10.54786372
87DYRK1A0.54536540
88STK390.54421812
89MAPK120.52154322
90PAK30.47040085
91CSNK1E0.46479564
92MARK20.45578114
93FYN0.45019301
94MATK0.43619072
95DMPK0.42368012
96CSNK1D0.41853472
97PRKCZ0.40848024
98PRKCE0.40737688
99WNK40.40488611
100HIPK20.40383351
101PRKDC0.39602863
102PRKG20.39015211
103CASK0.38769446
104FGFR20.37262870
105FER0.37106259
106BMX0.37101663
107PRKG10.36249443
108PRKCB0.35863191
109GSK3B0.35845136
110PRKACB0.35709033
111PRKACA0.35659037
112ERBB20.35043490
113CSNK1A10.34821194
114DYRK20.32977552
115PRKCA0.32231104
116DAPK30.32003863
117RPS6KB10.31844821
118CSNK1A1L0.29704869
119EEF2K0.28427001
120CSNK1G10.25293855
121MAPK80.25274298

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.76662997
2Synaptic vesicle cycle_Homo sapiens_hsa047213.36409456
3Long-term potentiation_Homo sapiens_hsa047202.62610172
4GABAergic synapse_Homo sapiens_hsa047272.61483035
5Glutamatergic synapse_Homo sapiens_hsa047242.61471928
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.56303556
7Circadian entrainment_Homo sapiens_hsa047132.54399956
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53682743
9Olfactory transduction_Homo sapiens_hsa047402.26411670
10Morphine addiction_Homo sapiens_hsa050322.22107833
11Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.21427140
12Salivary secretion_Homo sapiens_hsa049702.20947841
13Amphetamine addiction_Homo sapiens_hsa050312.08688681
14Taste transduction_Homo sapiens_hsa047422.08231290
15Gastric acid secretion_Homo sapiens_hsa049712.02110010
16Long-term depression_Homo sapiens_hsa047302.01060836
17Dopaminergic synapse_Homo sapiens_hsa047281.97211585
18Insulin secretion_Homo sapiens_hsa049111.91510384
19Cholinergic synapse_Homo sapiens_hsa047251.80385510
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78757286
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74238507
22Nitrogen metabolism_Homo sapiens_hsa009101.72912173
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.67622288
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.61532583
25Phosphatidylinositol signaling system_Homo sapiens_hsa040701.50799919
26Oxytocin signaling pathway_Homo sapiens_hsa049211.44786853
27Calcium signaling pathway_Homo sapiens_hsa040201.44262499
28Type II diabetes mellitus_Homo sapiens_hsa049301.41491635
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.38738001
30Renin secretion_Homo sapiens_hsa049241.38133111
31GnRH signaling pathway_Homo sapiens_hsa049121.36476960
32cAMP signaling pathway_Homo sapiens_hsa040241.30777170
33Serotonergic synapse_Homo sapiens_hsa047261.30005362
34Cocaine addiction_Homo sapiens_hsa050301.29298408
35Gap junction_Homo sapiens_hsa045401.26457705
36Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.22879220
37Pancreatic secretion_Homo sapiens_hsa049721.18663258
38Estrogen signaling pathway_Homo sapiens_hsa049151.15696072
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.12388173
40Vitamin B6 metabolism_Homo sapiens_hsa007501.07365797
41Cardiac muscle contraction_Homo sapiens_hsa042601.03854964
42Thyroid hormone synthesis_Homo sapiens_hsa049181.01901809
43Carbohydrate digestion and absorption_Homo sapiens_hsa049730.99132345
44Collecting duct acid secretion_Homo sapiens_hsa049660.95593868
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95121529
46Dorso-ventral axis formation_Homo sapiens_hsa043200.94394239
47Bile secretion_Homo sapiens_hsa049760.92930080
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.90725072
49Oocyte meiosis_Homo sapiens_hsa041140.88071545
50Glioma_Homo sapiens_hsa052140.86886626
51Inositol phosphate metabolism_Homo sapiens_hsa005620.85325542
52ErbB signaling pathway_Homo sapiens_hsa040120.84507299
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.82291615
54Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.79895414
55Melanogenesis_Homo sapiens_hsa049160.78849777
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.77295031
57Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76720148
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.74927533
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73297040
60Dilated cardiomyopathy_Homo sapiens_hsa054140.69208849
61Choline metabolism in cancer_Homo sapiens_hsa052310.68342771
62Axon guidance_Homo sapiens_hsa043600.67881434
63MAPK signaling pathway_Homo sapiens_hsa040100.64725251
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.63185983
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60625942
66SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60030986
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59390197
68Vibrio cholerae infection_Homo sapiens_hsa051100.56482025
69Wnt signaling pathway_Homo sapiens_hsa043100.55651286
70mTOR signaling pathway_Homo sapiens_hsa041500.54217852
71Endocytosis_Homo sapiens_hsa041440.53963224
72Arginine and proline metabolism_Homo sapiens_hsa003300.53207717
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.52710959
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52566970
75Glucagon signaling pathway_Homo sapiens_hsa049220.51649336
76Circadian rhythm_Homo sapiens_hsa047100.50553833
77Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48637203
78VEGF signaling pathway_Homo sapiens_hsa043700.47394619
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46232664
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44907486
81Rap1 signaling pathway_Homo sapiens_hsa040150.44645656
82Mineral absorption_Homo sapiens_hsa049780.44370664
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44158556
84Tight junction_Homo sapiens_hsa045300.40791227
85Insulin signaling pathway_Homo sapiens_hsa049100.40209660
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37332251
87Arginine biosynthesis_Homo sapiens_hsa002200.36794340
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.35405219
89Ras signaling pathway_Homo sapiens_hsa040140.35292017
90Hippo signaling pathway_Homo sapiens_hsa043900.35232606
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35047690
92Endometrial cancer_Homo sapiens_hsa052130.34869994
93Central carbon metabolism in cancer_Homo sapiens_hsa052300.34617763
94Ovarian steroidogenesis_Homo sapiens_hsa049130.33436082
95Non-small cell lung cancer_Homo sapiens_hsa052230.31745464
96Fatty acid biosynthesis_Homo sapiens_hsa000610.31390153
97Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.31075732
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31012330
99Alcoholism_Homo sapiens_hsa050340.30790090
100Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30526721
101Chemokine signaling pathway_Homo sapiens_hsa040620.30395240
102AMPK signaling pathway_Homo sapiens_hsa041520.29910905
103Type I diabetes mellitus_Homo sapiens_hsa049400.27785592
104Platelet activation_Homo sapiens_hsa046110.26578353
105Prion diseases_Homo sapiens_hsa050200.26448645
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26163060
107Phototransduction_Homo sapiens_hsa047440.26052371
108mRNA surveillance pathway_Homo sapiens_hsa030150.21451793
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.20026441
110Alzheimers disease_Homo sapiens_hsa050100.17125479

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