KCNJ4

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: Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.20904499
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.20015583
3synaptic vesicle maturation (GO:0016188)5.98623187
4locomotory exploration behavior (GO:0035641)5.97771218
5vocalization behavior (GO:0071625)5.68357485
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.62419856
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.28872393
8regulation of glutamate receptor signaling pathway (GO:1900449)5.28305563
9synaptic vesicle exocytosis (GO:0016079)5.27887672
10regulation of long-term neuronal synaptic plasticity (GO:0048169)5.19450629
11regulation of synapse structural plasticity (GO:0051823)5.11871393
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.99941560
13regulation of neuronal synaptic plasticity (GO:0048168)4.97767725
14glutamate secretion (GO:0014047)4.94974892
15protein localization to synapse (GO:0035418)4.94531325
16regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.82823719
17L-amino acid import (GO:0043092)4.78501420
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.78014802
19regulation of synaptic vesicle exocytosis (GO:2000300)4.74598950
20dendritic spine morphogenesis (GO:0060997)4.61894656
21cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.54270179
22exploration behavior (GO:0035640)4.54091676
23neuronal action potential propagation (GO:0019227)4.48699481
24regulation of dendritic spine morphogenesis (GO:0061001)4.45349588
25neurotransmitter-gated ion channel clustering (GO:0072578)4.41254549
26cerebellar granule cell differentiation (GO:0021707)4.36688659
27synaptic transmission, glutamatergic (GO:0035249)4.29377355
28layer formation in cerebral cortex (GO:0021819)4.29153901
29amino acid import (GO:0043090)4.27935091
30regulation of synaptic vesicle transport (GO:1902803)4.25853856
31neurotransmitter secretion (GO:0007269)4.24979414
32regulation of excitatory postsynaptic membrane potential (GO:0060079)4.23760977
33neuron-neuron synaptic transmission (GO:0007270)4.21635056
34glutamate receptor signaling pathway (GO:0007215)4.19838078
35long-term memory (GO:0007616)4.15913248
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.15892480
37negative regulation of dendrite morphogenesis (GO:0050774)4.15206536
38positive regulation of membrane potential (GO:0045838)4.12661038
39regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.11250574
40prepulse inhibition (GO:0060134)4.09517207
41neuron cell-cell adhesion (GO:0007158)4.03664766
42G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)4.01628189
43cell communication by electrical coupling (GO:0010644)3.97861451
44regulation of synaptic plasticity (GO:0048167)3.97434072
45regulation of postsynaptic membrane potential (GO:0060078)3.94937160
46synaptic transmission, dopaminergic (GO:0001963)3.93603890
47positive regulation of neurotransmitter secretion (GO:0001956)3.93367149
48auditory behavior (GO:0031223)3.92645052
49positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.91576239
50potassium ion homeostasis (GO:0055075)3.91132787
51positive regulation of neurotransmitter transport (GO:0051590)3.89478712
52neuromuscular process controlling balance (GO:0050885)3.86738281
53postsynaptic membrane organization (GO:0001941)3.82536631
54gamma-aminobutyric acid transport (GO:0015812)3.74937995
55positive regulation of synaptic transmission, GABAergic (GO:0032230)3.74648204
56regulation of ARF protein signal transduction (GO:0032012)3.73373387
57behavioral response to cocaine (GO:0048148)3.71264278
58transmission of nerve impulse (GO:0019226)3.68433111
59potassium ion import (GO:0010107)3.68192230
60regulation of synaptic transmission, glutamatergic (GO:0051966)3.67021829
61regulation of dendritic spine development (GO:0060998)3.66877408
62axon ensheathment in central nervous system (GO:0032291)3.65571006
63central nervous system myelination (GO:0022010)3.65571006
64long-term synaptic potentiation (GO:0060291)3.65132034
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.64281155
66regulation of synapse maturation (GO:0090128)3.61218877
67cerebellar Purkinje cell differentiation (GO:0021702)3.60535245
68dendritic spine organization (GO:0097061)3.59127193
69regulation of glutamate secretion (GO:0014048)3.57364356
70response to auditory stimulus (GO:0010996)3.57179211
71negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.55643861
72activation of protein kinase A activity (GO:0034199)3.55279727
73regulation of female receptivity (GO:0045924)3.52985701
74cellular potassium ion homeostasis (GO:0030007)3.51232135
75behavioral defense response (GO:0002209)3.50016356
76behavioral fear response (GO:0001662)3.50016356
77striatum development (GO:0021756)3.49776947
78positive regulation of synapse maturation (GO:0090129)3.46368831
79proline transport (GO:0015824)3.46349203
80response to amphetamine (GO:0001975)3.46278265
81positive regulation of dendritic spine development (GO:0060999)3.42022814
82neuronal ion channel clustering (GO:0045161)3.39519871
83adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.39449597
84cellular sodium ion homeostasis (GO:0006883)3.37483205
85positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.36482960
86neurotransmitter transport (GO:0006836)3.36283274
87cytoskeletal anchoring at plasma membrane (GO:0007016)3.35689335
88response to histamine (GO:0034776)3.34055282
89regulation of neurotransmitter secretion (GO:0046928)3.33893716
90detection of calcium ion (GO:0005513)3.31120303
91neuron recognition (GO:0008038)3.29934312
92regulation of cell communication by electrical coupling (GO:0010649)3.28753368
93negative regulation of synaptic transmission, GABAergic (GO:0032229)3.28336224
94learning (GO:0007612)3.28144475
95regulation of voltage-gated calcium channel activity (GO:1901385)3.27964807
96positive regulation of dendritic spine morphogenesis (GO:0061003)3.27921096
97regulation of vesicle fusion (GO:0031338)3.27858243
98dopamine receptor signaling pathway (GO:0007212)3.27087779
99membrane depolarization (GO:0051899)3.25538840
100fear response (GO:0042596)3.25521603
101membrane depolarization during action potential (GO:0086010)3.24679835
102adenosine receptor signaling pathway (GO:0001973)3.24310647
103gamma-aminobutyric acid signaling pathway (GO:0007214)3.22509467
104cell communication involved in cardiac conduction (GO:0086065)3.22048005
105glycine transport (GO:0015816)3.21236663
106regulation of neurotransmitter transport (GO:0051588)3.20850593
107membrane hyperpolarization (GO:0060081)3.20092111
108regulation of neurotransmitter levels (GO:0001505)3.19916337
109female mating behavior (GO:0060180)3.18078677
110positive regulation of synaptic transmission (GO:0050806)3.17323779
111sodium ion export (GO:0071436)3.15796944
112synaptic vesicle endocytosis (GO:0048488)3.15661597
113acidic amino acid transport (GO:0015800)3.14534246
114negative regulation of amino acid transport (GO:0051956)3.14294415
115vesicle docking involved in exocytosis (GO:0006904)3.12217192
116neuromuscular process controlling posture (GO:0050884)3.11577342
117neuromuscular synaptic transmission (GO:0007274)3.11546121
118chemosensory behavior (GO:0007635)3.09393224
119visual learning (GO:0008542)3.08300110
120positive regulation of dendrite development (GO:1900006)3.08135480
121long term synaptic depression (GO:0060292)3.06114825
122regulation of synaptic transmission (GO:0050804)3.06023877
123G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.05066304
124synaptic vesicle transport (GO:0048489)3.04903042
125establishment of synaptic vesicle localization (GO:0097480)3.04903042
126neuromuscular process (GO:0050905)3.04834386
127cell migration in hindbrain (GO:0021535)3.04060811
128* synaptic transmission (GO:0007268)3.03986906
129mechanosensory behavior (GO:0007638)3.03797850
130regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.02701043
131regulation of exocytosis (GO:0017157)3.00473795
132vesicle transport along microtubule (GO:0047496)2.99529452
133regulation of dendrite morphogenesis (GO:0048814)2.98312787
134regulation of synaptic transmission, GABAergic (GO:0032228)2.98183341

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.99169316
2* RARB_27405468_Chip-Seq_BRAIN_Mouse3.45416264
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.28578184
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.21591836
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.19004862
6GBX2_23144817_ChIP-Seq_PC3_Human3.18134929
7THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.87149482
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84938022
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84938022
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.80984502
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.80038533
12* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.75508350
13DROSHA_22980978_ChIP-Seq_HELA_Human2.70808283
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.67145129
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.65126864
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.59616775
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53951055
18* EZH2_27304074_Chip-Seq_ESCs_Mouse2.53284090
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.48938857
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.41504890
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.35340496
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.34824229
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.33418346
24* RNF2_27304074_Chip-Seq_ESCs_Mouse2.27708857
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.23409160
26* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.12779180
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94131696
28AR_21572438_ChIP-Seq_LNCaP_Human1.92616878
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.89325584
30* ERG_21242973_ChIP-ChIP_JURKAT_Human1.76326092
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74971675
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57844208
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56835092
34SMAD4_21799915_ChIP-Seq_A2780_Human1.47613631
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46004107
36TAF15_26573619_Chip-Seq_HEK293_Human1.45299517
37RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.41312958
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.38753196
39* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.37914636
40GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.35325729
41WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31182639
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29815916
43LXR_22292898_ChIP-Seq_THP-1_Human1.26601066
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.25826008
45SOX2_21211035_ChIP-Seq_LN229_Gbm1.25787933
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.25109938
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.24695111
48SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24448941
49* KDM2B_26808549_Chip-Seq_K562_Human1.23105687
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22617890
51OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.20062405
52ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19854255
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19634888
54AR_19668381_ChIP-Seq_PC3_Human1.19501626
55EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19484226
56P53_22127205_ChIP-Seq_FIBROBLAST_Human1.19067463
57ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18942190
58TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18238280
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18043577
60RING1B_27294783_Chip-Seq_NPCs_Mouse1.17257737
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16785499
62PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.16387634
63P300_19829295_ChIP-Seq_ESCs_Human1.14592641
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.13403373
65ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13068537
66ESR2_21235772_ChIP-Seq_MCF-7_Human1.12309903
67GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11423513
68RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11259262
69STAT3_23295773_ChIP-Seq_U87_Human1.11146361
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.10414663
71PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09115457
72AR_25329375_ChIP-Seq_VCAP_Human1.08549904
73ZNF274_21170338_ChIP-Seq_K562_Hela1.08466179
74VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.06882998
75SRY_22984422_ChIP-ChIP_TESTIS_Rat1.06337959
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05516794
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.05444216
78SMAD3_21741376_ChIP-Seq_HESCs_Human1.04960430
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04711348
80OCT4_19829295_ChIP-Seq_ESCs_Human1.03081873
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.01382423
82TP53_16413492_ChIP-PET_HCT116_Human1.01219497
83GATA1_26923725_Chip-Seq_HPCs_Mouse1.00458407
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99539549
85SMC4_20622854_ChIP-Seq_HELA_Human0.99294418
86TCF4_23295773_ChIP-Seq_U87_Human0.98250964
87RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.97480977
88YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97014914
89CTCF_27219007_Chip-Seq_Bcells_Human0.96109925
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95547054
91* RNF2_27304074_Chip-Seq_NSC_Mouse0.95498520
92SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94912596
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.94659815
94CBX2_27304074_Chip-Seq_ESCs_Mouse0.94058062
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.93506096
96AHR_22903824_ChIP-Seq_MCF-7_Human0.93468488
97DPY_21335234_ChIP-Seq_ESCs_Mouse0.93185501
98SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.92816533
99* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92504900
100TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91797549
101PIAS1_25552417_ChIP-Seq_VCAP_Human0.91190898
102* TP53_20018659_ChIP-ChIP_R1E_Mouse0.91130853
103SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90981361
104PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90937580
105CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90507018
106PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89970362
107SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.89718945
108SMAD3_21741376_ChIP-Seq_ESCs_Human0.89534038
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.89269659
110RXR_22108803_ChIP-Seq_LS180_Human0.88959379
111CREB1_26743006_Chip-Seq_LNCaP_Human0.88718104
112KDM2B_26808549_Chip-Seq_DND41_Human0.88380642
113RUNX2_22187159_ChIP-Seq_PCA_Human0.88052309
114* TET1_21490601_ChIP-Seq_MESCs_Mouse0.86827988
115NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86157586
116UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.84842468
117BMI1_23680149_ChIP-Seq_NPCS_Mouse0.84827367
118* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84660801
119EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.84251696
120CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81475374
121UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.81193007
122EGR1_19032775_ChIP-ChIP_M12_Human0.80958420
123AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.80923491
124TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.80914142
125SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80704585
126P68_20966046_ChIP-Seq_HELA_Human0.80175222
127JUN_21703547_ChIP-Seq_K562_Human0.79709224
128KLF4_19829295_ChIP-Seq_ESCs_Human0.79354359
129RUNX1_26923725_Chip-Seq_HPCs_Mouse0.79293996
130TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.77818415
131SMAD4_21741376_ChIP-Seq_ESCs_Human0.77016471
132* KDM2B_26808549_Chip-Seq_JURKAT_Human0.74993611
133MYC_19915707_ChIP-ChIP_AK7_Human0.74137476
134TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73137684
135TET1_21451524_ChIP-Seq_MESCs_Mouse0.70426829
136CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.70004346
137EP300_21415370_ChIP-Seq_HL-1_Mouse0.69495753

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.39690490
2MP0002822_catalepsy5.39516987
3MP0003880_abnormal_central_pattern4.85696785
4MP0003635_abnormal_synaptic_transmissio4.44793154
5MP0009745_abnormal_behavioral_response3.79617777
6MP0004270_analgesia3.79301382
7MP0002063_abnormal_learning/memory/cond3.68420528
8MP0002064_seizures3.24875908
9MP0002572_abnormal_emotion/affect_behav2.94156035
10MP0001968_abnormal_touch/_nociception2.85566107
11MP0009046_muscle_twitch2.85037898
12MP0001486_abnormal_startle_reflex2.75735540
13MP0002272_abnormal_nervous_system2.61447891
14MP0005423_abnormal_somatic_nervous2.46302586
15MP0002734_abnormal_mechanical_nocicepti2.39268021
16MP0001501_abnormal_sleep_pattern2.33517576
17MP0002736_abnormal_nociception_after2.12767902
18MP0009780_abnormal_chondrocyte_physiolo2.03724937
19MP0001440_abnormal_grooming_behavior2.02621256
20MP0002909_abnormal_adrenal_gland1.91938029
21MP0001970_abnormal_pain_threshold1.89370617
22MP0001529_abnormal_vocalization1.88595456
23MP0002733_abnormal_thermal_nociception1.87175123
24MP0003329_amyloid_beta_deposits1.85795216
25MP0002735_abnormal_chemical_nociception1.79485002
26MP0004924_abnormal_behavior1.77323635
27MP0005386_behavior/neurological_phenoty1.77323635
28MP0008569_lethality_at_weaning1.77274796
29MP0004811_abnormal_neuron_physiology1.76982887
30MP0003879_abnormal_hair_cell1.72833427
31MP0002557_abnormal_social/conspecific_i1.69866460
32MP0002067_abnormal_sensory_capabilities1.68229655
33MP0005646_abnormal_pituitary_gland1.63539031
34MP0004858_abnormal_nervous_system1.58730984
35MP0000778_abnormal_nervous_system1.50737873
36MP0002184_abnormal_innervation1.50019899
37MP0003123_paternal_imprinting1.43350888
38MP0000955_abnormal_spinal_cord1.43324447
39MP0001984_abnormal_olfaction1.42421819
40MP0003633_abnormal_nervous_system1.41142388
41MP0002066_abnormal_motor_capabilities/c1.38314657
42MP0003075_altered_response_to1.38042693
43MP0004885_abnormal_endolymph1.35969579
44MP0001905_abnormal_dopamine_level1.31928930
45MP0002882_abnormal_neuron_morphology1.29660407
46MP0008874_decreased_physiological_sensi1.16574297
47MP0003631_nervous_system_phenotype1.15241638
48MP0008872_abnormal_physiological_respon1.14724673
49MP0005409_darkened_coat_color1.13241704
50MP0001188_hyperpigmentation1.10407041
51MP0001177_atelectasis1.09637877
52MP0001502_abnormal_circadian_rhythm1.07769862
53MP0000013_abnormal_adipose_tissue1.06170311
54MP0005167_abnormal_blood-brain_barrier1.06075181
55MP0002152_abnormal_brain_morphology1.03230129
56MP0003787_abnormal_imprinting1.02836739
57MP0010234_abnormal_vibrissa_follicle1.01783505
58MP0001346_abnormal_lacrimal_gland0.98367157
59MP0004142_abnormal_muscle_tone0.95787374
60MP0002069_abnormal_eating/drinking_beha0.95103712
61MP0005535_abnormal_body_temperature0.93287937
62MP0008961_abnormal_basal_metabolism0.93150222
63MP0004085_abnormal_heartbeat0.92843288
64MP0003283_abnormal_digestive_organ0.92573413
65MP0003690_abnormal_glial_cell0.92296318
66MP0000751_myopathy0.91877107
67MP0006276_abnormal_autonomic_nervous0.90780633
68MP0000920_abnormal_myelination0.86447692
69MP0000604_amyloidosis0.85693181
70MP0002090_abnormal_vision0.85434116
71MP0005645_abnormal_hypothalamus_physiol0.81801390
72MP0002229_neurodegeneration0.80051408
73MP0004130_abnormal_muscle_cell0.79240793
74MP0002638_abnormal_pupillary_reflex0.75864523
75MP0004510_myositis0.73961873
76MP0002837_dystrophic_cardiac_calcinosis0.73784595
77MP0003634_abnormal_glial_cell0.72468558
78MP0003632_abnormal_nervous_system0.70777466
79MP0005394_taste/olfaction_phenotype0.69645391
80MP0005499_abnormal_olfactory_system0.69645391
81MP0004147_increased_porphyrin_level0.67680880
82MP0004145_abnormal_muscle_electrophysio0.67277853
83MP0003137_abnormal_impulse_conducting0.66352171
84MP0000631_abnormal_neuroendocrine_gland0.65564126
85MP0008877_abnormal_DNA_methylation0.65524581
86MP0005623_abnormal_meninges_morphology0.65379675
87MP0001664_abnormal_digestion0.65124768
88MP0005551_abnormal_eye_electrophysiolog0.64872524
89MP0000569_abnormal_digit_pigmentation0.64443914
90MP0001963_abnormal_hearing_physiology0.64394869
91MP0004484_altered_response_of0.63620373
92MP0010386_abnormal_urinary_bladder0.61246402
93MP0004742_abnormal_vestibular_system0.60914777
94MP0001348_abnormal_lacrimal_gland0.60437592
95MP0003183_abnormal_peptide_metabolism0.60355659
96MP0001485_abnormal_pinna_reflex0.59807042
97MP0001986_abnormal_taste_sensitivity0.59312278
98MP0005166_decreased_susceptibility_to0.58049131
99MP0000579_abnormal_nail_morphology0.57767517
100MP0004215_abnormal_myocardial_fiber0.56322581
101MP0002752_abnormal_somatic_nervous0.54570758
102MP0003938_abnormal_ear_development0.54514753
103MP0000026_abnormal_inner_ear0.54273202
104MP0010768_mortality/aging0.51884322
105MP0003121_genomic_imprinting0.50531998
106MP0001943_abnormal_respiration0.50496115
107MP0002082_postnatal_lethality0.50277431
108MP0010770_preweaning_lethality0.50277431
109MP0005187_abnormal_penis_morphology0.49735806
110MP0004233_abnormal_muscle_weight0.47977877
111MP0002089_abnormal_postnatal_growth/wei0.47715776
112MP0003956_abnormal_body_size0.46953074
113MP0004043_abnormal_pH_regulation0.45918867
114MP0003122_maternal_imprinting0.45593280
115MP0010769_abnormal_survival0.45082578
116MP0003861_abnormal_nervous_system0.44932850
117MP0003172_abnormal_lysosome_physiology0.44650541

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.46583205
2Focal motor seizures (HP:0011153)8.17108798
3Focal seizures (HP:0007359)6.07156955
4Visual hallucinations (HP:0002367)5.44760684
5Epileptic encephalopathy (HP:0200134)4.79592106
6Atonic seizures (HP:0010819)4.27763284
7Febrile seizures (HP:0002373)4.10219051
8Absence seizures (HP:0002121)4.08642125
9Poor eye contact (HP:0000817)4.02727837
10Generalized tonic-clonic seizures (HP:0002069)3.94247760
11Action tremor (HP:0002345)3.82913938
12Dialeptic seizures (HP:0011146)3.82081663
13Impaired vibration sensation in the lower limbs (HP:0002166)3.74849141
14Broad-based gait (HP:0002136)3.74550089
15Ankle clonus (HP:0011448)3.64417657
16Abnormal social behavior (HP:0012433)3.58122207
17Impaired social interactions (HP:0000735)3.58122207
18Depression (HP:0000716)3.51790481
19Anxiety (HP:0000739)3.49626276
20Progressive cerebellar ataxia (HP:0002073)3.48336242
21Annular pancreas (HP:0001734)3.46013454
22Tetraplegia (HP:0002445)3.42319675
23Supranuclear gaze palsy (HP:0000605)3.41185731
24Dysdiadochokinesis (HP:0002075)3.38910449
25Gaze-evoked nystagmus (HP:0000640)3.38572378
26Torticollis (HP:0000473)3.37078744
27Urinary bladder sphincter dysfunction (HP:0002839)3.36819216
28Dysmetria (HP:0001310)3.29365931
29Papilledema (HP:0001085)3.24441450
30Amblyopia (HP:0000646)3.22178863
31Cerebral hypomyelination (HP:0006808)3.18747750
32Hyperventilation (HP:0002883)3.07593673
33Focal dystonia (HP:0004373)3.07284178
34Resting tremor (HP:0002322)3.06484246
35Postural instability (HP:0002172)3.06461660
36Urinary urgency (HP:0000012)3.00452376
37Cerebral inclusion bodies (HP:0100314)2.97147563
38Abnormality of the lower motor neuron (HP:0002366)2.96977263
39Stereotypic behavior (HP:0000733)2.95035157
40Truncal ataxia (HP:0002078)2.94579297
41Impaired smooth pursuit (HP:0007772)2.83900056
42Craniofacial dystonia (HP:0012179)2.80883630
43Abnormal eating behavior (HP:0100738)2.78849060
44Mutism (HP:0002300)2.78836530
45Neurofibrillary tangles (HP:0002185)2.78784446
46Ankyloglossia (HP:0010296)2.73706778
47Scanning speech (HP:0002168)2.72848904
48Spastic gait (HP:0002064)2.66851638
49Intention tremor (HP:0002080)2.64794534
50Hemiparesis (HP:0001269)2.61391778
51Bradykinesia (HP:0002067)2.60286531
52Impaired vibratory sensation (HP:0002495)2.59081107
53Megalencephaly (HP:0001355)2.58972587
54Akinesia (HP:0002304)2.53789988
55Pointed chin (HP:0000307)2.53521823
56Lower limb amyotrophy (HP:0007210)2.51438514
57Dysmetric saccades (HP:0000641)2.50196942
58Progressive inability to walk (HP:0002505)2.45803890
59Drooling (HP:0002307)2.43334192
60Excessive salivation (HP:0003781)2.43334192
61Epileptiform EEG discharges (HP:0011182)2.42182054
62Status epilepticus (HP:0002133)2.42072234
63Hemiplegia (HP:0002301)2.38892820
64Diminished motivation (HP:0000745)2.37558017
65Diplopia (HP:0000651)2.37079570
66Abnormality of binocular vision (HP:0011514)2.37079570
67Abnormality of ocular smooth pursuit (HP:0000617)2.36910184
68Ventricular fibrillation (HP:0001663)2.35935579
69Sleep apnea (HP:0010535)2.34431909
70Genetic anticipation (HP:0003743)2.33624072
71Termporal pattern (HP:0011008)2.30759513
72Insidious onset (HP:0003587)2.30759513
73EEG with generalized epileptiform discharges (HP:0011198)2.29804646
74Peripheral hypomyelination (HP:0007182)2.29008647
75Sudden death (HP:0001699)2.28044694
76Generalized myoclonic seizures (HP:0002123)2.27288841
77Spastic tetraparesis (HP:0001285)2.27255406
78Heart block (HP:0012722)2.25266341
79Lower limb muscle weakness (HP:0007340)2.23476232
80Hypsarrhythmia (HP:0002521)2.20046942
81Aplasia involving bones of the extremities (HP:0009825)2.19803418
82Aplasia involving bones of the upper limbs (HP:0009823)2.19803418
83Aplasia of the phalanges of the hand (HP:0009802)2.19803418
84Obstructive sleep apnea (HP:0002870)2.19479985
85Delusions (HP:0000746)2.17754238
86Absent speech (HP:0001344)2.14711020
87Incomplete penetrance (HP:0003829)2.14502847
88Inability to walk (HP:0002540)2.12490275
89Syncope (HP:0001279)2.11751801
90Choreoathetosis (HP:0001266)2.08108294
91Clonus (HP:0002169)2.04873843
92Lower limb asymmetry (HP:0100559)2.04721526
93Abnormal atrioventricular conduction (HP:0005150)2.04520084
94Spinal canal stenosis (HP:0003416)2.04419700
95CNS hypomyelination (HP:0003429)2.03893172
96Fetal akinesia sequence (HP:0001989)2.03350127
97Abnormality of oral frenula (HP:0000190)2.02851168
98Abnormal EKG (HP:0003115)1.98413386
99Bundle branch block (HP:0011710)1.97147924
100Insomnia (HP:0100785)1.96788429
101Split foot (HP:0001839)1.96376891
102Neuronal loss in central nervous system (HP:0002529)1.95644434
103Abnormality of the periventricular white matter (HP:0002518)1.94538558
104Bronchomalacia (HP:0002780)1.93544174
105Atrioventricular block (HP:0001678)1.92313985
106Rapidly progressive (HP:0003678)1.91327844
107Abnormality of the corticospinal tract (HP:0002492)1.91139460
108Gait ataxia (HP:0002066)1.90771704
109Truncus arteriosus (HP:0001660)1.89131477
110Polyphagia (HP:0002591)1.87078913
111Limb dystonia (HP:0002451)1.84248749
112Apathy (HP:0000741)1.83231640
113Prolonged QT interval (HP:0001657)1.82633698
114Rigidity (HP:0002063)1.81505897
115Degeneration of the lateral corticospinal tracts (HP:0002314)1.79541347
116Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.79541347
117Morphological abnormality of the pyramidal tract (HP:0002062)1.78259237
118Abnormality of saccadic eye movements (HP:0000570)1.78097169
119Dementia (HP:0000726)1.78059528
120Memory impairment (HP:0002354)1.75722882
121Polygenic inheritance (HP:0010982)1.75554841
122Inappropriate behavior (HP:0000719)1.72048968
123Deeply set eye (HP:0000490)1.71265980
124Bowel incontinence (HP:0002607)1.71089450
125Amyotrophic lateral sclerosis (HP:0007354)1.68703752
126Blue irides (HP:0000635)1.67617579

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA46.64587685
2NTRK34.35139742
3MAP3K93.99334129
4DAPK23.10103557
5RIPK42.73618947
6KSR22.62918917
7PRKD32.52570578
8MAP3K42.44032055
9MINK12.41559737
10PAK62.14103257
11MARK12.11015713
12CAMKK12.04139358
13MAP2K71.97099717
14DAPK11.87960901
15NTRK11.87901923
16NTRK21.81580100
17KSR11.78343772
18MAP3K131.78333520
19ARAF1.77289298
20CDK51.61480133
21FES1.55234703
22MAP2K41.53767708
23MAP3K121.45483343
24SIK21.45473196
25PLK21.39589682
26TYRO31.38811768
27MAP3K21.38127686
28TNIK1.32824556
29TAOK11.31400987
30GRK51.28379148
31PRPF4B1.26542544
32RAF11.21402535
33STK381.17714764
34BMPR21.12023572
35PRKCG1.07514154
36PTK2B1.06363982
37CDK191.04382801
38PNCK1.01387782
39CAMKK20.97608397
40CAMK10.93155538
41CAMK2A0.90923394
42UHMK10.90453284
43STK110.87973586
44CDK180.87013744
45CDK150.86678334
46MAPK120.84848173
47PRKCH0.83190908
48CDK140.82784711
49MARK20.82073056
50PINK10.80976839
51MAPK130.79785885
52CASK0.79386185
53CAMK2B0.77947406
54CDK11A0.76020875
55ALK0.73999371
56SGK10.73862707
57RET0.73040363
58MAP3K110.71795825
59SGK4940.71729557
60SGK2230.71729557
61PDPK10.70440373
62PDK10.69347260
63MAP3K10.68872075
64FGR0.66774552
65DAPK30.65163133
66LATS20.61552059
67PKN10.61073167
68LIMK10.57200824
69PAK30.55952348
70TNK20.55521021
71OXSR10.52269154
72MAP2K10.51215338
73DYRK1A0.51193681
74NEK60.51111586
75SGK30.50525821
76SGK20.50319169
77ROCK20.50098369
78PRKCZ0.48640429
79NME10.48623643
80DMPK0.48615091
81PHKG20.48433725
82PHKG10.48433725
83FYN0.48104689
84RPS6KA30.48054402
85NEK10.47234974
86MAP3K70.46156784
87BRSK10.45929508
88CSNK1G20.43287665
89RIPK10.43126481
90MOS0.41959107
91PRKD20.41584995
92MAPK100.41415973
93PRKCE0.41376532
94LMTK20.40902086
95CAMK40.40042751
96CAMK2G0.37203761
97TESK10.36641030
98CAMK2D0.36422698
99SCYL20.36287553
100PRKG20.34740315
101CCNB10.34680332
102ROCK10.33772264
103BRAF0.31706576
104IRAK20.31049574
105PRKCB0.30063125
106* PRKCA0.29927450
107CDC42BPA0.29556995
108DDR20.29164627
109CAMK1G0.26147957
110ERBB20.26122611
111MAPK80.25677153
112MAP3K60.25070504
113FGFR20.24966287
114MAP2K60.23907823
115MAPK40.23503493

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.40593019
2Olfactory transduction_Homo sapiens_hsa047403.25305572
3Synaptic vesicle cycle_Homo sapiens_hsa047213.00503561
4Long-term potentiation_Homo sapiens_hsa047202.82509804
5Circadian entrainment_Homo sapiens_hsa047132.79195613
6Amphetamine addiction_Homo sapiens_hsa050312.71209436
7Morphine addiction_Homo sapiens_hsa050322.70506103
8Glutamatergic synapse_Homo sapiens_hsa047242.67549803
9GABAergic synapse_Homo sapiens_hsa047272.67486168
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.62087525
11Dopaminergic synapse_Homo sapiens_hsa047282.29171890
12Salivary secretion_Homo sapiens_hsa049702.26814907
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.05648086
14Cocaine addiction_Homo sapiens_hsa050301.98485253
15Gastric acid secretion_Homo sapiens_hsa049711.96494871
16* Cholinergic synapse_Homo sapiens_hsa047251.94998798
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.93337350
18Insulin secretion_Homo sapiens_hsa049111.91515450
19Renin secretion_Homo sapiens_hsa049241.90411070
20* Oxytocin signaling pathway_Homo sapiens_hsa049211.77379574
21Vitamin B6 metabolism_Homo sapiens_hsa007501.77329925
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76119085
23Calcium signaling pathway_Homo sapiens_hsa040201.71469441
24Long-term depression_Homo sapiens_hsa047301.61452738
25Serotonergic synapse_Homo sapiens_hsa047261.60595835
26Taste transduction_Homo sapiens_hsa047421.57614873
27GnRH signaling pathway_Homo sapiens_hsa049121.54407027
28Gap junction_Homo sapiens_hsa045401.45180445
29Nitrogen metabolism_Homo sapiens_hsa009101.37268904
30cAMP signaling pathway_Homo sapiens_hsa040241.35807799
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34923900
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33862632
33Glioma_Homo sapiens_hsa052141.26006428
34Collecting duct acid secretion_Homo sapiens_hsa049661.20353140
35Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.20302020
36Estrogen signaling pathway_Homo sapiens_hsa049151.14956632
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.12539446
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11573068
39Melanogenesis_Homo sapiens_hsa049161.06385734
40Type II diabetes mellitus_Homo sapiens_hsa049301.04864683
41Vascular smooth muscle contraction_Homo sapiens_hsa042701.02949899
42Axon guidance_Homo sapiens_hsa043601.00299444
43ErbB signaling pathway_Homo sapiens_hsa040120.99170193
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98731825
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.98726943
46Cardiac muscle contraction_Homo sapiens_hsa042600.98471665
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.97192283
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95915512
49Oocyte meiosis_Homo sapiens_hsa041140.91645120
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.90623323
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85110402
52Pancreatic secretion_Homo sapiens_hsa049720.82287511
53Phototransduction_Homo sapiens_hsa047440.81002586
54Dorso-ventral axis formation_Homo sapiens_hsa043200.80978585
55VEGF signaling pathway_Homo sapiens_hsa043700.78582162
56Dilated cardiomyopathy_Homo sapiens_hsa054140.76589373
57Thyroid hormone synthesis_Homo sapiens_hsa049180.75690046
58Choline metabolism in cancer_Homo sapiens_hsa052310.71150810
59Vibrio cholerae infection_Homo sapiens_hsa051100.71072090
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69045068
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68394043
62MAPK signaling pathway_Homo sapiens_hsa040100.67804404
63Rap1 signaling pathway_Homo sapiens_hsa040150.67636162
64Alcoholism_Homo sapiens_hsa050340.64022003
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.61942769
66Non-small cell lung cancer_Homo sapiens_hsa052230.60983172
67Ras signaling pathway_Homo sapiens_hsa040140.58905587
68Type I diabetes mellitus_Homo sapiens_hsa049400.58085319
69Glucagon signaling pathway_Homo sapiens_hsa049220.56098748
70Sphingolipid signaling pathway_Homo sapiens_hsa040710.55951320
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55883351
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55598085
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53929882
74Bile secretion_Homo sapiens_hsa049760.50469603
75mTOR signaling pathway_Homo sapiens_hsa041500.50151496
76Arginine biosynthesis_Homo sapiens_hsa002200.49849790
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.49632994
78Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48215916
79Arginine and proline metabolism_Homo sapiens_hsa003300.48009721
80Prion diseases_Homo sapiens_hsa050200.47639932
81Endocytosis_Homo sapiens_hsa041440.47422860
82African trypanosomiasis_Homo sapiens_hsa051430.46531920
832-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.45570702
84Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44387263
85Chemokine signaling pathway_Homo sapiens_hsa040620.42997109
86Inositol phosphate metabolism_Homo sapiens_hsa005620.42682529
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42049139
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41062898
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39405868
90Renal cell carcinoma_Homo sapiens_hsa052110.38763987
91Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.34783067
92Endometrial cancer_Homo sapiens_hsa052130.34394016
93Circadian rhythm_Homo sapiens_hsa047100.33943631
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33699379
95Alzheimers disease_Homo sapiens_hsa050100.33443264
96Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33408692
97Wnt signaling pathway_Homo sapiens_hsa043100.33201816
98Insulin signaling pathway_Homo sapiens_hsa049100.32002073
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.31746405
100Platelet activation_Homo sapiens_hsa046110.31534693
101Ovarian steroidogenesis_Homo sapiens_hsa049130.31261804
102Tight junction_Homo sapiens_hsa045300.29415637
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28702956
104Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28662412
105HIF-1 signaling pathway_Homo sapiens_hsa040660.27618932
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.26630102
107Hippo signaling pathway_Homo sapiens_hsa043900.25761566
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.25618475
109AMPK signaling pathway_Homo sapiens_hsa041520.24646626
110Histidine metabolism_Homo sapiens_hsa003400.19712516

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