SLC1A2

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 a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.15101320
2synaptic vesicle maturation (GO:0016188)5.72450800
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.70952106
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.68589990
5vocalization behavior (GO:0071625)5.18115857
6synaptic vesicle exocytosis (GO:0016079)5.14299910
7glutamate secretion (GO:0014047)5.12598927
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.04318950
9central nervous system myelination (GO:0022010)4.92986898
10axon ensheathment in central nervous system (GO:0032291)4.92986898
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.92018482
12cellular potassium ion homeostasis (GO:0030007)4.85095405
13regulation of glutamate receptor signaling pathway (GO:1900449)4.79546846
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.75135080
15neurotransmitter-gated ion channel clustering (GO:0072578)4.64091753
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.63727241
17sodium ion export (GO:0071436)4.59490152
18regulation of long-term neuronal synaptic plasticity (GO:0048169)4.51763153
19regulation of neuronal synaptic plasticity (GO:0048168)4.50025230
20regulation of synapse structural plasticity (GO:0051823)4.49494153
21regulation of synaptic vesicle exocytosis (GO:2000300)4.41181430
22membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.41019383
23gamma-aminobutyric acid transport (GO:0015812)4.40385019
24exploration behavior (GO:0035640)4.37677363
25neuronal action potential propagation (GO:0019227)4.34080421
26protein localization to synapse (GO:0035418)4.32199263
27neurotransmitter secretion (GO:0007269)4.25279851
28glutamate receptor signaling pathway (GO:0007215)4.22955436
29synaptic transmission, glutamatergic (GO:0035249)4.19758889
30positive regulation of synaptic transmission, glutamatergic (GO:0051968)4.17721296
31neurotransmitter uptake (GO:0001504)4.12706789
32regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.07272237
33neuron cell-cell adhesion (GO:0007158)4.04313040
34long-term memory (GO:0007616)4.03852362
35regulation of synaptic vesicle transport (GO:1902803)3.97398710
36presynaptic membrane organization (GO:0097090)3.95085453
37response to auditory stimulus (GO:0010996)3.93584816
38layer formation in cerebral cortex (GO:0021819)3.90769785
39dendritic spine morphogenesis (GO:0060997)3.84723131
40neuron-neuron synaptic transmission (GO:0007270)3.84435462
41negative regulation of dendrite morphogenesis (GO:0050774)3.82997017
42auditory behavior (GO:0031223)3.80762772
43cell communication by electrical coupling (GO:0010644)3.74453453
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.74166806
45cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.73974353
46positive regulation of membrane potential (GO:0045838)3.73488010
47proline transport (GO:0015824)3.72314977
48* L-amino acid import (GO:0043092)3.71050250
49regulation of synaptic plasticity (GO:0048167)3.65721443
50regulation of synaptic transmission, glutamatergic (GO:0051966)3.64608872
51long-term synaptic potentiation (GO:0060291)3.57043745
52potassium ion import (GO:0010107)3.56099212
53prepulse inhibition (GO:0060134)3.55472946
54positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.53039368
55regulation of postsynaptic membrane potential (GO:0060078)3.52924977
56neurotransmitter transport (GO:0006836)3.52484854
57G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.50201694
58regulation of synapse maturation (GO:0090128)3.49723698
59neuromuscular process controlling balance (GO:0050885)3.47129451
60regulation of dendritic spine morphogenesis (GO:0061001)3.46485443
61cellular sodium ion homeostasis (GO:0006883)3.45539807
62regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.37866880
63alanine transport (GO:0032328)3.37389037
64regulation of neurotransmitter levels (GO:0001505)3.35806397
65transmission of nerve impulse (GO:0019226)3.33205579
66response to histamine (GO:0034776)3.28944870
67potassium ion homeostasis (GO:0055075)3.25902240
68dendrite morphogenesis (GO:0048813)3.25394389
69activation of protein kinase A activity (GO:0034199)3.23953311
70postsynaptic membrane organization (GO:0001941)3.22089300
71negative regulation of synaptic transmission, GABAergic (GO:0032229)3.21812101
72cell communication involved in cardiac conduction (GO:0086065)3.19203553
73regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.18427241
74synaptic vesicle endocytosis (GO:0048488)3.17728285
75regulation of neurotransmitter secretion (GO:0046928)3.17566064
76positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.17263979
77positive regulation of dendritic spine morphogenesis (GO:0061003)3.16026087
78membrane hyperpolarization (GO:0060081)3.13146573
79detection of calcium ion (GO:0005513)3.12584678
80neuromuscular process (GO:0050905)3.11343236
81regulation of ARF protein signal transduction (GO:0032012)3.10922391
82startle response (GO:0001964)3.10748336
83glycine transport (GO:0015816)3.10569446
84* synaptic transmission (GO:0007268)3.10426768
85positive regulation of synapse maturation (GO:0090129)3.09632241
86positive regulation of synaptic transmission (GO:0050806)3.09046197
87positive regulation of synaptic transmission, GABAergic (GO:0032230)3.09040492
88gamma-aminobutyric acid signaling pathway (GO:0007214)3.08499806
89serotonin metabolic process (GO:0042428)3.06885288
90regulation of vesicle fusion (GO:0031338)3.06466716
91* amino acid import (GO:0043090)3.06029430
92cerebellar Purkinje cell differentiation (GO:0021702)3.05216645
93regulation of neurotransmitter transport (GO:0051588)3.04728537
94G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.04504700
95positive regulation of neurotransmitter secretion (GO:0001956)3.04453794
96mechanosensory behavior (GO:0007638)3.03394063
97neuronal ion channel clustering (GO:0045161)3.03041633
98neuromuscular synaptic transmission (GO:0007274)3.02857403
99cerebellar granule cell differentiation (GO:0021707)3.02827865
100positive regulation of neurotransmitter transport (GO:0051590)3.02501233
101presynaptic membrane assembly (GO:0097105)2.99132825
102adult walking behavior (GO:0007628)2.99019254
103regulation of voltage-gated calcium channel activity (GO:1901385)2.98595425
104negative regulation of cytosolic calcium ion concentration (GO:0051481)2.97713112
105behavioral defense response (GO:0002209)2.97589393
106behavioral fear response (GO:0001662)2.97589393
107cell differentiation in hindbrain (GO:0021533)2.97135755
108cytoskeletal anchoring at plasma membrane (GO:0007016)2.95733513
109membrane depolarization (GO:0051899)2.95615219
110regulation of synaptic transmission (GO:0050804)2.95271811
111regulation of dendritic spine development (GO:0060998)2.94493258
112negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94418174
113learning (GO:0007612)2.93902277
114negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91781555
115membrane depolarization during action potential (GO:0086010)2.91577166
116neuromuscular process controlling posture (GO:0050884)2.91041191
117regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.90124087
118positive regulation of dendritic spine development (GO:0060999)2.89249896

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.46247597
2GBX2_23144817_ChIP-Seq_PC3_Human3.27133695
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06099714
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03850513
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.93165823
6* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.65838500
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.65838500
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.65448842
9DROSHA_22980978_ChIP-Seq_HELA_Human2.64863657
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58439442
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56047752
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54540097
13* REST_21632747_ChIP-Seq_MESCs_Mouse2.54085947
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52870608
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47155948
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42606511
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.35294323
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.30040499
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19407206
20* RNF2_27304074_Chip-Seq_ESCs_Mouse2.19052511
21AR_21572438_ChIP-Seq_LNCaP_Human2.18166809
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.15029616
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.13353253
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10505206
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.01685548
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91135363
27RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.75218227
28THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73329825
29* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73213370
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.72570228
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.72010882
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.69594588
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60709430
34SMAD4_21799915_ChIP-Seq_A2780_Human1.56595215
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.53117402
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46786042
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46158431
38SMAD_19615063_ChIP-ChIP_OVARY_Human1.42392670
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.38489781
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.38210920
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.36619251
42P300_19829295_ChIP-Seq_ESCs_Human1.30584154
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.29978068
44PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29641536
45AR_25329375_ChIP-Seq_VCAP_Human1.27939550
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.27393747
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26778631
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.26025783
49* AR_19668381_ChIP-Seq_PC3_Human1.26016047
50WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24554421
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.24420251
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24009584
53CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22707449
54RXR_22108803_ChIP-Seq_LS180_Human1.21637515
55STAT3_23295773_ChIP-Seq_U87_Human1.20377523
56ZFP57_27257070_Chip-Seq_ESCs_Mouse1.20079358
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.19208478
58* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17041078
59DNAJC2_21179169_ChIP-ChIP_NT2_Human1.16757604
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16304716
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14584719
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13695792
63CBX2_27304074_Chip-Seq_ESCs_Mouse1.13301729
64RNF2_27304074_Chip-Seq_NSC_Mouse1.13090947
65NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12424496
66TAF15_26573619_Chip-Seq_HEK293_Human1.11498515
67TP53_16413492_ChIP-PET_HCT116_Human1.10973360
68OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10134263
69RING1B_27294783_Chip-Seq_NPCs_Mouse1.09869636
70TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09665143
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09119911
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05620551
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05589104
74ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05448833
75* TCF4_23295773_ChIP-Seq_U87_Human1.04651503
76AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03490082
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03468060
78KDM2B_26808549_Chip-Seq_K562_Human1.02772288
79TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02046737
80SMAD3_21741376_ChIP-Seq_HESCs_Human1.00961726
81BCAT_22108803_ChIP-Seq_LS180_Human1.00768732
82ESR2_21235772_ChIP-Seq_MCF-7_Human0.99895628
83TET1_21490601_ChIP-Seq_MESCs_Mouse0.99059173
84VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99051384
85EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.98890737
86* ARNT_22903824_ChIP-Seq_MCF-7_Human0.98573059
87GATA1_26923725_Chip-Seq_HPCs_Mouse0.98510676
88TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98245122
89MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97830384
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96161586
91OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96035539
92SMAD4_21741376_ChIP-Seq_HESCs_Human0.95497158
93SMAD3_21741376_ChIP-Seq_ESCs_Human0.94372073
94ZNF274_21170338_ChIP-Seq_K562_Hela0.93747561
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.92988483
96GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92901100
97ZFP281_18757296_ChIP-ChIP_E14_Mouse0.92057589
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.91919658
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90677857
100POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90677857
101BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90431090
102SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90387679
103RUNX2_22187159_ChIP-Seq_PCA_Human0.90237408
104* AHR_22903824_ChIP-Seq_MCF-7_Human0.90078483
105UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89295187
106ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.89118699
107SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88970820
108TP53_18474530_ChIP-ChIP_U2OS_Human0.88821089
109SOX9_26525672_Chip-Seq_HEART_Mouse0.88004466
110PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87920893
111ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87698350
112TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86817390
113CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85828358
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.85089424
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.83907993
116EP300_21415370_ChIP-Seq_HL-1_Mouse0.83647765

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.88939531
2MP0003880_abnormal_central_pattern4.21035042
3MP0003635_abnormal_synaptic_transmissio4.19171880
4MP0004270_analgesia3.70285377
5* MP0009745_abnormal_behavioral_response3.39831784
6MP0002063_abnormal_learning/memory/cond3.38043697
7MP0002822_catalepsy3.27499865
8* MP0002064_seizures3.17425324
9MP0009046_muscle_twitch3.10503517
10MP0001486_abnormal_startle_reflex3.06427726
11MP0002572_abnormal_emotion/affect_behav2.87641229
12MP0005423_abnormal_somatic_nervous2.84503344
13MP0001968_abnormal_touch/_nociception2.72038927
14MP0002272_abnormal_nervous_system2.56563318
15MP0002734_abnormal_mechanical_nocicepti2.45232706
16MP0009780_abnormal_chondrocyte_physiolo2.32840416
17MP0005646_abnormal_pituitary_gland2.32813836
18MP0001501_abnormal_sleep_pattern2.31105517
19MP0004858_abnormal_nervous_system2.27969276
20MP0004885_abnormal_endolymph2.21251281
21MP0008569_lethality_at_weaning2.18614824
22MP0001440_abnormal_grooming_behavior2.06984708
23MP0002736_abnormal_nociception_after2.00411120
24MP0003690_abnormal_glial_cell1.92234318
25MP0002067_abnormal_sensory_capabilities1.89722067
26MP0003329_amyloid_beta_deposits1.87233490
27MP0002733_abnormal_thermal_nociception1.77614800
28MP0001970_abnormal_pain_threshold1.75834873
29MP0002557_abnormal_social/conspecific_i1.75504295
30MP0002909_abnormal_adrenal_gland1.72513914
31MP0001984_abnormal_olfaction1.63391366
32MP0004924_abnormal_behavior1.61255384
33MP0005386_behavior/neurological_phenoty1.61255384
34MP0000778_abnormal_nervous_system1.59745621
35MP0002735_abnormal_chemical_nociception1.58179134
36* MP0003633_abnormal_nervous_system1.58050654
37MP0001502_abnormal_circadian_rhythm1.57925916
38MP0004811_abnormal_neuron_physiology1.56988395
39MP0003075_altered_response_to1.50397180
40MP0003879_abnormal_hair_cell1.46224377
41MP0002066_abnormal_motor_capabilities/c1.36806426
42* MP0002882_abnormal_neuron_morphology1.36674122
43MP0002184_abnormal_innervation1.34411285
44* MP0000955_abnormal_spinal_cord1.32516105
45* MP0003631_nervous_system_phenotype1.28040334
46MP0003122_maternal_imprinting1.27185655
47MP0005551_abnormal_eye_electrophysiolog1.26599778
48MP0005645_abnormal_hypothalamus_physiol1.22306962
49MP0004142_abnormal_muscle_tone1.18856868
50MP0002090_abnormal_vision1.16564843
51MP0001529_abnormal_vocalization1.15308637
52MP0001485_abnormal_pinna_reflex1.15219855
53MP0001905_abnormal_dopamine_level1.14469463
54MP0003634_abnormal_glial_cell1.12359923
55MP0003123_paternal_imprinting1.08570148
56MP0005167_abnormal_blood-brain_barrier1.08480370
57* MP0002152_abnormal_brain_morphology1.08473422
58MP0008872_abnormal_physiological_respon1.07837106
59MP0004147_increased_porphyrin_level1.07195636
60MP0001177_atelectasis1.07019767
61MP0008874_decreased_physiological_sensi1.02683177
62MP0002229_neurodegeneration0.99213829
63MP0000920_abnormal_myelination0.99040106
64MP0008961_abnormal_basal_metabolism0.92792799
65MP0003787_abnormal_imprinting0.92488337
66MP0002638_abnormal_pupillary_reflex0.91956273
67MP0003632_abnormal_nervous_system0.91878925
68MP0002069_abnormal_eating/drinking_beha0.89461301
69MP0001963_abnormal_hearing_physiology0.88837235
70MP0000604_amyloidosis0.86930116
71MP0004215_abnormal_myocardial_fiber0.86253985
72MP0004043_abnormal_pH_regulation0.85905721
73MP0005535_abnormal_body_temperature0.84840432
74MP0003137_abnormal_impulse_conducting0.82239377
75MP0000751_myopathy0.80911357
76MP0004085_abnormal_heartbeat0.80671374
77MP0004742_abnormal_vestibular_system0.79644260
78MP0001986_abnormal_taste_sensitivity0.77010475
79MP0001188_hyperpigmentation0.76846744
80MP0005409_darkened_coat_color0.76259513
81MP0001346_abnormal_lacrimal_gland0.76153538
82MP0000631_abnormal_neuroendocrine_gland0.75693174
83MP0006276_abnormal_autonomic_nervous0.75377062
84MP0001348_abnormal_lacrimal_gland0.74412805
85MP0005394_taste/olfaction_phenotype0.72485061
86MP0005499_abnormal_olfactory_system0.72485061
87MP0010386_abnormal_urinary_bladder0.71065971
88MP0000569_abnormal_digit_pigmentation0.70785335
89MP0000013_abnormal_adipose_tissue0.70485953
90MP0003172_abnormal_lysosome_physiology0.69845096
91MP0002752_abnormal_somatic_nervous0.67507277
92MP0001299_abnormal_eye_distance/0.66957071
93MP0003283_abnormal_digestive_organ0.66935521
94MP0004130_abnormal_muscle_cell0.64910913
95MP0005166_decreased_susceptibility_to0.62245966
96MP0003183_abnormal_peptide_metabolism0.61034873
97MP0005253_abnormal_eye_physiology0.60037351
98MP0000579_abnormal_nail_morphology0.57201581
99MP0004233_abnormal_muscle_weight0.56813289
100MP0001664_abnormal_digestion0.56061668
101MP0003646_muscle_fatigue0.55447080
102MP0004145_abnormal_muscle_electrophysio0.54611759
103MP0002089_abnormal_postnatal_growth/wei0.54154304
104* MP0010768_mortality/aging0.53822808
105* MP0002082_postnatal_lethality0.53233270
106* MP0010770_preweaning_lethality0.53233270
107MP0005623_abnormal_meninges_morphology0.51334263
108MP0000026_abnormal_inner_ear0.50768124
109* MP0010769_abnormal_survival0.49881382
110MP0001943_abnormal_respiration0.49810866
111MP0005595_abnormal_vascular_smooth0.49594711
112MP0003956_abnormal_body_size0.49227339
113MP0000566_synostosis0.48821090
114MP0003861_abnormal_nervous_system0.48575195
115MP0004484_altered_response_of0.47948016
116MP0003121_genomic_imprinting0.47654330
117MP0008877_abnormal_DNA_methylation0.44312822
118MP0000639_abnormal_adrenal_gland0.44049316

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.03028433
2Myokymia (HP:0002411)7.19121578
3Focal seizures (HP:0007359)5.62440793
4Epileptic encephalopathy (HP:0200134)5.03932334
5Action tremor (HP:0002345)4.41383583
6Visual hallucinations (HP:0002367)4.36136821
7Progressive cerebellar ataxia (HP:0002073)4.22082757
8Febrile seizures (HP:0002373)4.11800969
9Generalized tonic-clonic seizures (HP:0002069)4.04903687
10Megalencephaly (HP:0001355)3.95653805
11Absence seizures (HP:0002121)3.90667165
12Dysdiadochokinesis (HP:0002075)3.89303200
13Atonic seizures (HP:0010819)3.70866165
14Dialeptic seizures (HP:0011146)3.65373934
15Aplasia involving bones of the extremities (HP:0009825)3.59583446
16Aplasia involving bones of the upper limbs (HP:0009823)3.59583446
17Aplasia of the phalanges of the hand (HP:0009802)3.59583446
18Postural instability (HP:0002172)3.54887892
19Broad-based gait (HP:0002136)3.41916665
20Hyperventilation (HP:0002883)3.41567564
21Hemiplegia (HP:0002301)3.37142392
22Gaze-evoked nystagmus (HP:0000640)3.37080314
23Hemiparesis (HP:0001269)3.31168039
24Impaired vibration sensation in the lower limbs (HP:0002166)3.31041240
25Poor eye contact (HP:0000817)3.29742411
26Depression (HP:0000716)3.28641542
27Supranuclear gaze palsy (HP:0000605)3.24957096
28Abnormal eating behavior (HP:0100738)3.20021673
29Dysmetria (HP:0001310)3.17206637
30Ankle clonus (HP:0011448)3.11616709
31Abnormality of binocular vision (HP:0011514)3.11467417
32Diplopia (HP:0000651)3.11467417
33Urinary bladder sphincter dysfunction (HP:0002839)3.08744219
34Truncal ataxia (HP:0002078)3.06448199
35Impaired social interactions (HP:0000735)3.05014928
36Abnormal social behavior (HP:0012433)3.05014928
37Anxiety (HP:0000739)3.04708584
38Papilledema (HP:0001085)2.94957815
39Intention tremor (HP:0002080)2.93169798
40Abnormality of the corticospinal tract (HP:0002492)2.93115183
41Limb dystonia (HP:0002451)2.90060194
42Status epilepticus (HP:0002133)2.89476739
43Genetic anticipation (HP:0003743)2.85597810
44Neurofibrillary tangles (HP:0002185)2.78588373
45Cerebral hypomyelination (HP:0006808)2.77035885
46Impaired smooth pursuit (HP:0007772)2.69125452
47Akinesia (HP:0002304)2.68908068
48Torticollis (HP:0000473)2.63312192
49Bradykinesia (HP:0002067)2.62861810
50Scanning speech (HP:0002168)2.61119572
51Stereotypic behavior (HP:0000733)2.59962900
52Degeneration of the lateral corticospinal tracts (HP:0002314)2.57974262
53Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.57974262
54Dysmetric saccades (HP:0000641)2.54384855
55Delusions (HP:0000746)2.50431376
56Impaired vibratory sensation (HP:0002495)2.49214773
57Focal dystonia (HP:0004373)2.45580227
58Clumsiness (HP:0002312)2.45390056
59Annular pancreas (HP:0001734)2.41475056
60Abnormality of ocular smooth pursuit (HP:0000617)2.40890439
61Urinary urgency (HP:0000012)2.40601906
62Cerebral inclusion bodies (HP:0100314)2.38742160
63Drooling (HP:0002307)2.38443363
64Excessive salivation (HP:0003781)2.38443363
65Sleep apnea (HP:0010535)2.31756612
66Spastic gait (HP:0002064)2.29526741
67Amblyopia (HP:0000646)2.27942385
68Epileptiform EEG discharges (HP:0011182)2.26787843
69Spastic tetraparesis (HP:0001285)2.21141967
70Apathy (HP:0000741)2.20578530
71Mutism (HP:0002300)2.20527422
72EEG with generalized epileptiform discharges (HP:0011198)2.18497422
73Obstructive sleep apnea (HP:0002870)2.17869905
74Abnormality of the lower motor neuron (HP:0002366)2.13703233
75Generalized myoclonic seizures (HP:0002123)2.13039909
76Craniofacial dystonia (HP:0012179)2.12325442
77Split foot (HP:0001839)2.08094537
78Ventricular fibrillation (HP:0001663)2.07510830
79Hypsarrhythmia (HP:0002521)2.07383271
80Lower limb muscle weakness (HP:0007340)2.05096071
81Morphological abnormality of the pyramidal tract (HP:0002062)2.01017462
82Choreoathetosis (HP:0001266)2.00227064
83Abnormality of the periventricular white matter (HP:0002518)1.97270693
84Abnormality of saccadic eye movements (HP:0000570)1.97263205
85Polyphagia (HP:0002591)1.97231900
86Tetraplegia (HP:0002445)1.96241678
87Rigidity (HP:0002063)1.95402926
88Rapidly progressive (HP:0003678)1.95058828
89Incomplete penetrance (HP:0003829)1.94065954
90CNS hypomyelination (HP:0003429)1.93006666
91Diminished motivation (HP:0000745)1.92540556
92Severe global developmental delay (HP:0011344)1.90220211
93Pointed chin (HP:0000307)1.89489099
94Gait ataxia (HP:0002066)1.89020063
95Increased circulating renin level (HP:0000848)1.88804770
96Absent speech (HP:0001344)1.88723735
97Fetal akinesia sequence (HP:0001989)1.88464225
98Ankyloglossia (HP:0010296)1.88013861
99Prolonged QT interval (HP:0001657)1.86145563
100Abnormal EKG (HP:0003115)1.85774213
101Blue irides (HP:0000635)1.85739921
102Memory impairment (HP:0002354)1.80513431
103Progressive inability to walk (HP:0002505)1.80340761
104Resting tremor (HP:0002322)1.79478774
105Pheochromocytoma (HP:0002666)1.77103267
106Clonus (HP:0002169)1.74750376
107Bronchomalacia (HP:0002780)1.73389902
108Spinal canal stenosis (HP:0003416)1.71854850
109Thickened helices (HP:0000391)1.71539457
110Spastic tetraplegia (HP:0002510)1.70438668
111Psychosis (HP:0000709)1.68916756
112Neuronal loss in central nervous system (HP:0002529)1.68317491
113Bundle branch block (HP:0011710)1.65211517
114Lower limb asymmetry (HP:0100559)1.65128523
115Peripheral hypomyelination (HP:0007182)1.65053443
116Limb ataxia (HP:0002070)1.64230365
117Abnormality of salivation (HP:0100755)1.63903821
118Insomnia (HP:0100785)1.63865220

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.41851930
2NTRK34.13901686
3MAP3K93.35900335
4PRKD32.94405337
5NTRK22.83271969
6MAP3K42.59570620
7DAPK22.56021120
8TNIK2.52739240
9MINK12.36095319
10MAP2K72.16073598
11PAK62.08005803
12MARK12.03345216
13CAMKK12.02707702
14NTRK11.96417718
15KSR21.93962721
16RIPK41.87563105
17CASK1.83951080
18MAP2K41.61127947
19PRPF4B1.56650979
20CDK51.55814786
21SGK21.47353012
22STK381.45229935
23MAP3K131.39748000
24DAPK11.39295357
25SGK2231.38415349
26SGK4941.38415349
27KSR11.36941510
28SGK31.30236152
29MUSK1.30141511
30LMTK21.27423139
31PHKG11.26375192
32PHKG21.26375192
33FES1.26342082
34TYRO31.25099779
35MAPK131.24182177
36CDK191.19378504
37PRKCG1.16094859
38PINK11.13295104
39SIK21.10594674
40MAP3K121.04609210
41PLK21.04287517
42CAMK11.01613742
43MAP3K20.99016697
44TAOK10.97537051
45CAMKK20.96560735
46PRKCH0.95790506
47ARAF0.95259956
48TRIB30.93896970
49GRK50.93099205
50STK110.91466375
51CAMK2A0.90064414
52SGK10.82492607
53CDK150.78666982
54CDK180.78448305
55PDK10.77009385
56RET0.76526683
57UHMK10.74846762
58PDPK10.74759609
59DMPK0.73949576
60PKN10.72319036
61CDK140.72200426
62MAP3K70.71357510
63PTK2B0.69439416
64RAF10.69052744
65PAK30.67637347
66CAMK1G0.67592041
67CDK11A0.66959429
68CAMK2B0.66601208
69NEK60.65402548
70TNK20.65393348
71PNCK0.63941117
72OXSR10.63790369
73BMPR20.63137453
74FGFR20.61619342
75RPS6KA30.60072389
76ROCK20.58826859
77DYRK1A0.58390371
78ALK0.57469247
79RIPK10.56686605
80MARK20.55821154
81CAMK40.54826597
82LATS20.53542333
83CCNB10.52697469
84CDC42BPA0.52502811
85BRSK10.50342742
86MAP3K10.50310989
87BRAF0.49085338
88PRKCE0.46497669
89PRKCZ0.45921917
90MAPK100.45914755
91CAMK2G0.45510719
92FGR0.45472767
93MAPK120.44593791
94FYN0.43530567
95CSNK1G20.39871767
96ROCK10.37468127
97PRKG10.37168875
98MAP3K110.37050752
99PRKCA0.36717506
100PRKD20.36598487
101CAMK2D0.35840063
102PRKCB0.33089941
103CSNK1D0.32484850
104MAP2K10.31710123
105BMX0.31649185
106ERBB20.30483606
107PIK3CA0.30432228
108MAPK70.30344025
109CSNK1A10.30295767
110WNK10.30285870
111PRKCQ0.29938205
112LIMK10.29817618
113MAPKAPK50.28622553

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.95157383
2Nicotine addiction_Homo sapiens_hsa050333.31935625
3Olfactory transduction_Homo sapiens_hsa047402.66503249
4GABAergic synapse_Homo sapiens_hsa047272.64606107
5Synaptic vesicle cycle_Homo sapiens_hsa047212.63894007
6Circadian entrainment_Homo sapiens_hsa047132.54483125
7* Glutamatergic synapse_Homo sapiens_hsa047242.50813685
8Morphine addiction_Homo sapiens_hsa050322.39987865
9Long-term potentiation_Homo sapiens_hsa047202.37548331
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.36852312
11Salivary secretion_Homo sapiens_hsa049702.23003026
12Amphetamine addiction_Homo sapiens_hsa050312.19892393
13Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.15855152
14Insulin secretion_Homo sapiens_hsa049112.05261033
15Gastric acid secretion_Homo sapiens_hsa049712.02862073
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02651633
17Dopaminergic synapse_Homo sapiens_hsa047281.82060746
18Cholinergic synapse_Homo sapiens_hsa047251.77474526
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.74696417
20Cocaine addiction_Homo sapiens_hsa050301.57949201
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56029399
22Calcium signaling pathway_Homo sapiens_hsa040201.53308451
23Renin secretion_Homo sapiens_hsa049241.52141748
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46023004
25Oxytocin signaling pathway_Homo sapiens_hsa049211.45848052
26Vitamin B6 metabolism_Homo sapiens_hsa007501.40881012
27Long-term depression_Homo sapiens_hsa047301.36888338
28Taste transduction_Homo sapiens_hsa047421.35089884
29Fatty acid biosynthesis_Homo sapiens_hsa000611.32746147
30Serotonergic synapse_Homo sapiens_hsa047261.31966388
31GnRH signaling pathway_Homo sapiens_hsa049121.29680631
32cAMP signaling pathway_Homo sapiens_hsa040241.28933468
33Gap junction_Homo sapiens_hsa045401.16468726
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14742917
35Dorso-ventral axis formation_Homo sapiens_hsa043201.11039098
36Glioma_Homo sapiens_hsa052141.06519347
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.03326878
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02041596
39Bile secretion_Homo sapiens_hsa049760.98549961
40Pancreatic secretion_Homo sapiens_hsa049720.97432894
41Estrogen signaling pathway_Homo sapiens_hsa049150.97398929
42Type II diabetes mellitus_Homo sapiens_hsa049300.96923579
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96179060
44Phospholipase D signaling pathway_Homo sapiens_hsa040720.96044923
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95726655
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.95312941
47Melanogenesis_Homo sapiens_hsa049160.94546728
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89827220
49ErbB signaling pathway_Homo sapiens_hsa040120.87791126
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86651538
51Circadian rhythm_Homo sapiens_hsa047100.85117681
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84928360
53Arginine biosynthesis_Homo sapiens_hsa002200.83708398
54Thyroid hormone synthesis_Homo sapiens_hsa049180.82165605
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.81721277
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78143744
57Axon guidance_Homo sapiens_hsa043600.74421275
58Collecting duct acid secretion_Homo sapiens_hsa049660.70411422
59Cardiac muscle contraction_Homo sapiens_hsa042600.69946223
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69594297
61Dilated cardiomyopathy_Homo sapiens_hsa054140.68925231
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68885337
63Choline metabolism in cancer_Homo sapiens_hsa052310.67620797
64Phototransduction_Homo sapiens_hsa047440.64774001
65Histidine metabolism_Homo sapiens_hsa003400.63607046
66Glucagon signaling pathway_Homo sapiens_hsa049220.62885607
67Rap1 signaling pathway_Homo sapiens_hsa040150.59185013
68MAPK signaling pathway_Homo sapiens_hsa040100.57586539
69Oocyte meiosis_Homo sapiens_hsa041140.55640122
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.53874019
71Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52690648
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.50526639
73Ras signaling pathway_Homo sapiens_hsa040140.50403262
74African trypanosomiasis_Homo sapiens_hsa051430.48936774
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45770490
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45366664
77VEGF signaling pathway_Homo sapiens_hsa043700.44086289
78beta-Alanine metabolism_Homo sapiens_hsa004100.42682632
79Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41858993
80Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41745208
81mTOR signaling pathway_Homo sapiens_hsa041500.40670088
82Inositol phosphate metabolism_Homo sapiens_hsa005620.40246759
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39706366
84Arginine and proline metabolism_Homo sapiens_hsa003300.39442798
85* Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38579741
86Non-small cell lung cancer_Homo sapiens_hsa052230.36547803
87Endocytosis_Homo sapiens_hsa041440.36040538
88Type I diabetes mellitus_Homo sapiens_hsa049400.35873989
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35230148
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.35080831
91Alcoholism_Homo sapiens_hsa050340.34041000
92Mineral absorption_Homo sapiens_hsa049780.34033743
93Insulin signaling pathway_Homo sapiens_hsa049100.33046560
94Endometrial cancer_Homo sapiens_hsa052130.31476981
95Wnt signaling pathway_Homo sapiens_hsa043100.30562351
96Ovarian steroidogenesis_Homo sapiens_hsa049130.30462592
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.29285626
98Adipocytokine signaling pathway_Homo sapiens_hsa049200.28997303
99Vibrio cholerae infection_Homo sapiens_hsa051100.28782100
100Prion diseases_Homo sapiens_hsa050200.28464486
101Chemokine signaling pathway_Homo sapiens_hsa040620.28203049
102Renal cell carcinoma_Homo sapiens_hsa052110.27167505
103Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.26090892
104Tight junction_Homo sapiens_hsa045300.26005047
105Butanoate metabolism_Homo sapiens_hsa006500.24286697
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23384822
107Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.22444545
108Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.21031001
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20629306
110AMPK signaling pathway_Homo sapiens_hsa041520.18857186
111Hippo signaling pathway_Homo sapiens_hsa043900.18387816

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