ATP1A3

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





Description: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.03122271
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.85318990
3locomotory exploration behavior (GO:0035641)6.27440505
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.17718377
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.99422810
6synaptic vesicle exocytosis (GO:0016079)5.68961522
7vocalization behavior (GO:0071625)5.66629609
8glutamate secretion (GO:0014047)5.52959735
9regulation of synaptic vesicle exocytosis (GO:2000300)5.42700367
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.31144654
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.30123377
12cerebellar granule cell differentiation (GO:0021707)5.07783872
13regulation of glutamate receptor signaling pathway (GO:1900449)5.00986611
14protein localization to synapse (GO:0035418)4.99806263
15exploration behavior (GO:0035640)4.89840366
16neurotransmitter secretion (GO:0007269)4.89499072
17regulation of synaptic vesicle transport (GO:1902803)4.82963728
18regulation of neuronal synaptic plasticity (GO:0048168)4.67264875
19layer formation in cerebral cortex (GO:0021819)4.64262324
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.61373095
21gamma-aminobutyric acid transport (GO:0015812)4.57667023
22regulation of synapse structural plasticity (GO:0051823)4.49230845
23* ionotropic glutamate receptor signaling pathway (GO:0035235)4.39122826
24neuronal action potential propagation (GO:0019227)4.35367362
25neuron cell-cell adhesion (GO:0007158)4.26080065
26synaptic transmission, glutamatergic (GO:0035249)4.23290484
27neurotransmitter-gated ion channel clustering (GO:0072578)4.22465916
28amino acid import (GO:0043090)4.19299151
29proline transport (GO:0015824)4.17240720
30dendritic spine morphogenesis (GO:0060997)4.14212788
31long-term memory (GO:0007616)4.10235993
32regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.06695904
33positive regulation of membrane potential (GO:0045838)3.98785006
34* glutamate receptor signaling pathway (GO:0007215)3.96198531
35neurotransmitter transport (GO:0006836)3.95064599
36positive regulation of synapse maturation (GO:0090129)3.93862647
37neuron-neuron synaptic transmission (GO:0007270)3.92882381
38regulation of synapse maturation (GO:0090128)3.87185123
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.86774106
40glycine transport (GO:0015816)3.85530295
41neuromuscular process controlling posture (GO:0050884)3.82349058
42regulation of excitatory postsynaptic membrane potential (GO:0060079)3.76626454
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.76371378
44synaptic vesicle endocytosis (GO:0048488)3.75986022
45cerebellar Purkinje cell differentiation (GO:0021702)3.73616282
46activation of protein kinase A activity (GO:0034199)3.73236883
47neuromuscular process controlling balance (GO:0050885)3.73077701
48negative regulation of dendrite morphogenesis (GO:0050774)3.71577664
49response to pheromone (GO:0019236)3.66293924
50positive regulation of dendritic spine morphogenesis (GO:0061003)3.64297881
51* cellular potassium ion homeostasis (GO:0030007)3.63550503
52regulation of postsynaptic membrane potential (GO:0060078)3.62393688
53central nervous system myelination (GO:0022010)3.61626093
54axon ensheathment in central nervous system (GO:0032291)3.61626093
55regulation of neurotransmitter levels (GO:0001505)3.61445623
56regulation of neurotransmitter secretion (GO:0046928)3.58782645
57regulation of synaptic plasticity (GO:0048167)3.58663532
58* sodium ion export (GO:0071436)3.56502969
59positive regulation of synaptic transmission, GABAergic (GO:0032230)3.52976734
60positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.51900616
61gamma-aminobutyric acid signaling pathway (GO:0007214)3.46086887
62positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.44257773
63auditory behavior (GO:0031223)3.43618709
64response to auditory stimulus (GO:0010996)3.42990067
65regulation of dendritic spine morphogenesis (GO:0061001)3.42823738
66neuromuscular synaptic transmission (GO:0007274)3.41226547
67positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.39836897
68regulation of vesicle fusion (GO:0031338)3.39012754
69regulation of ARF protein signal transduction (GO:0032012)3.38622713
70transmission of nerve impulse (GO:0019226)3.37285754
71dendrite morphogenesis (GO:0048813)3.36665566
72cytoskeletal anchoring at plasma membrane (GO:0007016)3.36317189
73prepulse inhibition (GO:0060134)3.35180036
74neuron recognition (GO:0008038)3.34652056
75long-term synaptic potentiation (GO:0060291)3.34171099
76regulation of synaptic transmission, glutamatergic (GO:0051966)3.33786437
77dendritic spine organization (GO:0097061)3.32619245
78G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.32126885
79regulation of neurotransmitter transport (GO:0051588)3.31383901
80membrane hyperpolarization (GO:0060081)3.31079789
81cell differentiation in hindbrain (GO:0021533)3.29325025
82postsynaptic membrane organization (GO:0001941)3.28230827
83regulation of dendritic spine development (GO:0060998)3.25988012
84membrane depolarization during action potential (GO:0086010)3.24265693
85cerebellar Purkinje cell layer development (GO:0021680)3.20496285
86cell migration in hindbrain (GO:0021535)3.19622233
87positive regulation of neurotransmitter transport (GO:0051590)3.18901211
88L-amino acid import (GO:0043092)3.17717948
89acidic amino acid transport (GO:0015800)3.16333795
90* potassium ion homeostasis (GO:0055075)3.16151958
91neurotransmitter uptake (GO:0001504)3.16092942
92presynaptic membrane organization (GO:0097090)3.15850717
93vesicle transport along microtubule (GO:0047496)3.15606160
94detection of calcium ion (GO:0005513)3.15347549
95innervation (GO:0060384)3.15332069
96establishment of mitochondrion localization (GO:0051654)3.14397358
97membrane depolarization (GO:0051899)3.13705650
98* cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.13544723
99regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.12368979
100mating behavior (GO:0007617)3.12326963
101establishment of synaptic vesicle localization (GO:0097480)3.12113381
102synaptic vesicle transport (GO:0048489)3.12113381
103vesicle docking involved in exocytosis (GO:0006904)3.11780614
104positive regulation of neurotransmitter secretion (GO:0001956)3.11265631
105positive regulation of dendritic spine development (GO:0060999)3.09647404
106negative regulation of synaptic transmission, GABAergic (GO:0032229)3.09093054
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.08765018
108regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.07471955
109neuromuscular process (GO:0050905)3.07432418
110positive regulation of synaptic transmission (GO:0050806)3.05530467
111social behavior (GO:0035176)3.04784369
112intraspecies interaction between organisms (GO:0051703)3.04784369
113* cell communication by electrical coupling (GO:0010644)3.04452700
114regulation of synaptic transmission (GO:0050804)3.03963681
115axonal fasciculation (GO:0007413)3.03654429
116neuronal ion channel clustering (GO:0045161)3.03183561
117synapse assembly (GO:0007416)3.01544402
118regulation of clathrin-mediated endocytosis (GO:2000369)3.00933685
119behavioral defense response (GO:0002209)3.00500349
120behavioral fear response (GO:0001662)3.00500349
121synaptic transmission (GO:0007268)3.00429834
122axon cargo transport (GO:0008088)2.99114532
123G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.98230958
124regulation of voltage-gated calcium channel activity (GO:1901385)2.98228081

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.77397236
2SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08478821
3GBX2_23144817_ChIP-Seq_PC3_Human3.05607356
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04382845
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02087056
6REST_21632747_ChIP-Seq_MESCs_Mouse2.95480851
7DROSHA_22980978_ChIP-Seq_HELA_Human2.90749988
8* RARB_27405468_Chip-Seq_BRAIN_Mouse2.84323822
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74424961
10* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74424961
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66176489
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.63410131
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.59366954
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.51817425
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.51678082
16* REST_18959480_ChIP-ChIP_MESCs_Mouse2.46387447
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.45720760
18EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.45555130
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.42415416
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.39384775
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.38334329
22SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36411373
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.22839594
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.16327899
25* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.14776289
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02282743
27* CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.01963537
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.89503704
29* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86801269
30AR_21572438_ChIP-Seq_LNCaP_Human1.80933742
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.74919281
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.56265401
33RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.49194813
34* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.47771956
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46384508
36SMAD4_21799915_ChIP-Seq_A2780_Human1.45498199
37* KDM2B_26808549_Chip-Seq_K562_Human1.39652887
38* RING1B_27294783_Chip-Seq_ESCs_Mouse1.39168030
39* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.33689310
40* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.32306428
41ZNF274_21170338_ChIP-Seq_K562_Hela1.30752877
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.30068146
43* AR_19668381_ChIP-Seq_PC3_Human1.27016673
44* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.25590915
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24981754
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.23426427
47WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23168940
48GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22762216
49PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19685891
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19149528
51WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18880198
52CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18672524
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16931808
54* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.16493301
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16089468
56GATA1_26923725_Chip-Seq_HPCs_Mouse1.15831536
57RING1B_27294783_Chip-Seq_NPCs_Mouse1.14807984
58P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14704457
59* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12514955
60RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.11753275
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11268179
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.11144165
63AR_25329375_ChIP-Seq_VCAP_Human1.11010517
64STAT3_23295773_ChIP-Seq_U87_Human1.09970376
65ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.09794633
66TAF15_26573619_Chip-Seq_HEK293_Human1.05020607
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.04607388
68* LXR_22292898_ChIP-Seq_THP-1_Human1.04331426
69ZFP281_27345836_Chip-Seq_ESCs_Mouse1.01295131
70TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00811267
71VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99783357
72YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99617273
73TET1_21490601_ChIP-Seq_MESCs_Mouse0.98598415
74OCT4_19829295_ChIP-Seq_ESCs_Human0.98544818
75CTCF_27219007_Chip-Seq_Bcells_Human0.98155413
76SRY_22984422_ChIP-ChIP_TESTIS_Rat0.98067740
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97186056
78P300_19829295_ChIP-Seq_ESCs_Human0.96709218
79EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.96395052
80ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95680312
81SMAD3_21741376_ChIP-Seq_ESCs_Human0.95478545
82SMAD4_21741376_ChIP-Seq_HESCs_Human0.95321976
83TCF4_23295773_ChIP-Seq_U87_Human0.95160001
84TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94269627
85SMAD3_21741376_ChIP-Seq_HESCs_Human0.94121101
86* DPY_21335234_ChIP-Seq_ESCs_Mouse0.93769538
87TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91755864
88KDM2B_26808549_Chip-Seq_SUP-B15_Human0.91725465
89ARNT_22903824_ChIP-Seq_MCF-7_Human0.91441429
90CBX2_27304074_Chip-Seq_ESCs_Mouse0.90846323
91THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90534923
92SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.89089367
93AHR_22903824_ChIP-Seq_MCF-7_Human0.88814218
94PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88738717
95TP53_20018659_ChIP-ChIP_R1E_Mouse0.88616989
96CDX2_19796622_ChIP-Seq_MESCs_Mouse0.88169533
97CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87866103
98SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.87566956
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87332641
100DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87327191
101GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86524168
102IGF1R_20145208_ChIP-Seq_DFB_Human0.86302150
103RUNX1_26923725_Chip-Seq_HPCs_Mouse0.86174931
104SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86047261
105ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85849581
106PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85110028
107ESR2_21235772_ChIP-Seq_MCF-7_Human0.84887266
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84290235
109RNF2_27304074_Chip-Seq_NSC_Mouse0.82734523
110SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82706238
111TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.81201439
112RXR_22108803_ChIP-Seq_LS180_Human0.80979336
113TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80375967
114TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80317389
115PIAS1_25552417_ChIP-Seq_VCAP_Human0.80307043
116PRDM14_20953172_ChIP-Seq_ESCs_Human0.80210599
117* SMC4_20622854_ChIP-Seq_HELA_Human0.79774645
118TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79373774
119* KLF4_19829295_ChIP-Seq_ESCs_Human0.78798119
120SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.77248190
121BMI1_23680149_ChIP-Seq_NPCS_Mouse0.77086981
122CREB1_26743006_Chip-Seq_LNCaP_Human0.76940999
123* KDM2B_26808549_Chip-Seq_DND41_Human0.75443256
124SMAD4_21741376_ChIP-Seq_ESCs_Human0.72898585
125PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.72657192
126TP53_23651856_ChIP-Seq_MEFs_Mouse0.70721837
127EGR1_19032775_ChIP-ChIP_M12_Human0.70053737
128NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.68142428
129* MYC_19915707_ChIP-ChIP_AK7_Human0.67838558

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.03371718
2MP0003880_abnormal_central_pattern4.63442955
3MP0003635_abnormal_synaptic_transmissio4.35657327
4MP0004270_analgesia3.67052427
5* MP0009745_abnormal_behavioral_response3.40965913
6MP0005423_abnormal_somatic_nervous3.37607736
7* MP0002063_abnormal_learning/memory/cond3.34693999
8MP0009046_muscle_twitch3.33174450
9* MP0002064_seizures3.25165863
10MP0001968_abnormal_touch/_nociception2.84062084
11MP0002572_abnormal_emotion/affect_behav2.74811630
12MP0002822_catalepsy2.66655158
13MP0002734_abnormal_mechanical_nocicepti2.66633730
14MP0001486_abnormal_startle_reflex2.64355179
15MP0002272_abnormal_nervous_system2.64053378
16MP0001501_abnormal_sleep_pattern2.26675278
17MP0008569_lethality_at_weaning2.15126225
18MP0002736_abnormal_nociception_after2.02558139
19MP0003329_amyloid_beta_deposits2.01713418
20MP0001440_abnormal_grooming_behavior1.99014210
21MP0009780_abnormal_chondrocyte_physiolo1.98901397
22MP0002733_abnormal_thermal_nociception1.95493984
23MP0002067_abnormal_sensory_capabilities1.93644157
24MP0002735_abnormal_chemical_nociception1.93440360
25MP0001970_abnormal_pain_threshold1.92531836
26MP0004811_abnormal_neuron_physiology1.90500267
27MP0002909_abnormal_adrenal_gland1.86578713
28MP0004858_abnormal_nervous_system1.84852109
29MP0002184_abnormal_innervation1.80919620
30MP0002557_abnormal_social/conspecific_i1.72895196
31MP0005386_behavior/neurological_phenoty1.68071928
32MP0004924_abnormal_behavior1.68071928
33MP0004885_abnormal_endolymph1.68047185
34MP0000778_abnormal_nervous_system1.66287955
35MP0003879_abnormal_hair_cell1.62332830
36MP0005551_abnormal_eye_electrophysiolog1.62034648
37MP0000955_abnormal_spinal_cord1.61720432
38MP0001984_abnormal_olfaction1.57182737
39MP0005646_abnormal_pituitary_gland1.54643497
40* MP0002882_abnormal_neuron_morphology1.49395288
41MP0003123_paternal_imprinting1.48477010
42MP0001502_abnormal_circadian_rhythm1.46566605
43MP0003633_abnormal_nervous_system1.45955366
44* MP0002066_abnormal_motor_capabilities/c1.44847562
45MP0003787_abnormal_imprinting1.44624872
46MP0004142_abnormal_muscle_tone1.32954348
47MP0006276_abnormal_autonomic_nervous1.31150310
48MP0005645_abnormal_hypothalamus_physiol1.26814566
49MP0000569_abnormal_digit_pigmentation1.23974317
50MP0003631_nervous_system_phenotype1.21746661
51MP0002229_neurodegeneration1.19424387
52MP0001348_abnormal_lacrimal_gland1.16634225
53MP0003122_maternal_imprinting1.14008809
54MP0003075_altered_response_to1.11156092
55MP0008961_abnormal_basal_metabolism1.10965871
56* MP0002152_abnormal_brain_morphology1.10653150
57MP0002090_abnormal_vision1.09944068
58MP0003690_abnormal_glial_cell1.06618381
59MP0008872_abnormal_physiological_respon1.05372963
60MP0003283_abnormal_digestive_organ1.04610043
61MP0004145_abnormal_muscle_electrophysio0.99583601
62MP0001905_abnormal_dopamine_level0.99505495
63MP0000751_myopathy0.99428537
64MP0002069_abnormal_eating/drinking_beha0.96963670
65MP0001529_abnormal_vocalization0.96847518
66MP0001177_atelectasis0.96832704
67MP0000604_amyloidosis0.96203313
68MP0003172_abnormal_lysosome_physiology0.91357991
69MP0003632_abnormal_nervous_system0.91131519
70MP0005394_taste/olfaction_phenotype0.90234174
71MP0005499_abnormal_olfactory_system0.90234174
72* MP0003634_abnormal_glial_cell0.89404694
73MP0000013_abnormal_adipose_tissue0.89027750
74MP0008874_decreased_physiological_sensi0.88975918
75MP0004233_abnormal_muscle_weight0.88807155
76MP0000920_abnormal_myelination0.88398010
77MP0006072_abnormal_retinal_apoptosis0.87959643
78MP0004147_increased_porphyrin_level0.86683005
79MP0001346_abnormal_lacrimal_gland0.82020672
80MP0002752_abnormal_somatic_nervous0.81250264
81MP0005253_abnormal_eye_physiology0.79442015
82MP0010386_abnormal_urinary_bladder0.79260904
83MP0005535_abnormal_body_temperature0.78902785
84MP0004085_abnormal_heartbeat0.78747849
85MP0004742_abnormal_vestibular_system0.78592901
86MP0005167_abnormal_blood-brain_barrier0.77591388
87MP0003137_abnormal_impulse_conducting0.74166327
88MP0001963_abnormal_hearing_physiology0.73081396
89MP0001485_abnormal_pinna_reflex0.72184046
90MP0001986_abnormal_taste_sensitivity0.71360634
91MP0005409_darkened_coat_color0.71038912
92MP0008877_abnormal_DNA_methylation0.70709986
93MP0004215_abnormal_myocardial_fiber0.70316896
94MP0002638_abnormal_pupillary_reflex0.70215752
95MP0004130_abnormal_muscle_cell0.68309725
96MP0003121_genomic_imprinting0.67722636
97MP0000631_abnormal_neuroendocrine_gland0.66998394
98MP0000579_abnormal_nail_morphology0.66117716
99MP0005623_abnormal_meninges_morphology0.62584390
100MP0004510_myositis0.59785397
101MP0002089_abnormal_postnatal_growth/wei0.58382831
102MP0001188_hyperpigmentation0.58267324
103MP0001299_abnormal_eye_distance/0.58226145
104MP0010769_abnormal_survival0.56431105
105MP0004043_abnormal_pH_regulation0.55020827
106MP0002653_abnormal_ependyma_morphology0.53187179
107MP0010770_preweaning_lethality0.52866548
108MP0002082_postnatal_lethality0.52866548
109MP0010768_mortality/aging0.52625521
110MP0003861_abnormal_nervous_system0.52587290
111MP0001943_abnormal_respiration0.51881513
112* MP0003956_abnormal_body_size0.50317100
113MP0002249_abnormal_larynx_morphology0.45168286
114MP0002873_normal_phenotype0.42841974
115MP0000026_abnormal_inner_ear0.42781763
116MP0000747_muscle_weakness0.42602266

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.19321073
2Focal motor seizures (HP:0011153)6.95778035
3Visual hallucinations (HP:0002367)5.84523867
4Focal seizures (HP:0007359)5.65141847
5Progressive cerebellar ataxia (HP:0002073)4.71665602
6Epileptic encephalopathy (HP:0200134)4.68720253
7Action tremor (HP:0002345)4.54901870
8Supranuclear gaze palsy (HP:0000605)4.27368999
9Febrile seizures (HP:0002373)4.26586790
10Absence seizures (HP:0002121)4.10149518
11Atonic seizures (HP:0010819)4.08929607
12Ankle clonus (HP:0011448)4.02567964
13Generalized tonic-clonic seizures (HP:0002069)3.86390036
14Dialeptic seizures (HP:0011146)3.65936187
15Dysdiadochokinesis (HP:0002075)3.49930878
16Cerebral hypomyelination (HP:0006808)3.47360307
17Poor eye contact (HP:0000817)3.45198637
18Abnormality of the lower motor neuron (HP:0002366)3.40913921
19Urinary bladder sphincter dysfunction (HP:0002839)3.37231565
20Impaired vibration sensation in the lower limbs (HP:0002166)3.36663545
21Gaze-evoked nystagmus (HP:0000640)3.34681873
22Broad-based gait (HP:0002136)3.30666631
23Papilledema (HP:0001085)3.28419267
24Dysmetria (HP:0001310)3.22813857
25* Depression (HP:0000716)3.21673319
26Impaired social interactions (HP:0000735)3.18732376
27Abnormal social behavior (HP:0012433)3.18732376
28Genetic anticipation (HP:0003743)3.16377681
29Abnormal eating behavior (HP:0100738)3.15261509
30Truncal ataxia (HP:0002078)3.10313291
31Ventricular fibrillation (HP:0001663)2.99080272
32Intention tremor (HP:0002080)2.93044913
33Impaired smooth pursuit (HP:0007772)2.88859255
34Hemiparesis (HP:0001269)2.80938209
35Urinary urgency (HP:0000012)2.80405503
36Spastic gait (HP:0002064)2.80370939
37Central scotoma (HP:0000603)2.74009718
38* Anxiety (HP:0000739)2.70671464
39Abnormality of binocular vision (HP:0011514)2.70519238
40Diplopia (HP:0000651)2.70519238
41Neurofibrillary tangles (HP:0002185)2.69422317
42Scanning speech (HP:0002168)2.66593179
43Abnormality of ocular smooth pursuit (HP:0000617)2.63132953
44Sleep apnea (HP:0010535)2.62964885
45* Postural instability (HP:0002172)2.61948483
46Dysmetric saccades (HP:0000641)2.60606241
47Insomnia (HP:0100785)2.59769292
48Progressive inability to walk (HP:0002505)2.53193172
49Peripheral hypomyelination (HP:0007182)2.49603168
50Cerebral inclusion bodies (HP:0100314)2.49254299
51Amblyopia (HP:0000646)2.46855647
52Spastic tetraparesis (HP:0001285)2.43965011
53Stereotypic behavior (HP:0000733)2.42722118
54Status epilepticus (HP:0002133)2.41504722
55Congenital stationary night blindness (HP:0007642)2.39716525
56Annular pancreas (HP:0001734)2.39494598
57Pointed chin (HP:0000307)2.37059318
58Lower limb muscle weakness (HP:0007340)2.34682388
59Megalencephaly (HP:0001355)2.34270224
60* Torticollis (HP:0000473)2.32580589
61Diminished motivation (HP:0000745)2.29555230
62Morphological abnormality of the pyramidal tract (HP:0002062)2.28723887
63Epileptiform EEG discharges (HP:0011182)2.27625721
64Clonus (HP:0002169)2.27196409
65* Bradykinesia (HP:0002067)2.26567935
66Abnormality of the corticospinal tract (HP:0002492)2.26091094
67Amyotrophic lateral sclerosis (HP:0007354)2.25352852
68EEG with generalized epileptiform discharges (HP:0011198)2.25075105
69Impaired vibratory sensation (HP:0002495)2.24930746
70CNS hypomyelination (HP:0003429)2.24044460
71Agitation (HP:0000713)2.21830523
72Fetal akinesia sequence (HP:0001989)2.17987150
73* Focal dystonia (HP:0004373)2.17776992
74Hyperventilation (HP:0002883)2.17629383
75Polyphagia (HP:0002591)2.14906831
76Generalized myoclonic seizures (HP:0002123)2.13540802
77Hypsarrhythmia (HP:0002521)2.12607521
78Neuronal loss in central nervous system (HP:0002529)2.10600312
79Limb dystonia (HP:0002451)2.09796822
80Bundle branch block (HP:0011710)2.07671244
81Pheochromocytoma (HP:0002666)2.07099376
82Abnormality of macular pigmentation (HP:0008002)2.05700484
83Abnormality of saccadic eye movements (HP:0000570)2.05036860
84Degeneration of the lateral corticospinal tracts (HP:0002314)2.03770537
85Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.03770537
86Heart block (HP:0012722)2.02560067
87Lower limb asymmetry (HP:0100559)2.02201907
88Abnormal EKG (HP:0003115)2.01699508
89Termporal pattern (HP:0011008)2.00392755
90Insidious onset (HP:0003587)2.00392755
91Absent speech (HP:0001344)1.98982887
92Rigidity (HP:0002063)1.98061562
93Apathy (HP:0000741)1.95260277
94Obstructive sleep apnea (HP:0002870)1.93855506
95* Mutism (HP:0002300)1.93603403
96Gait ataxia (HP:0002066)1.93515651
97* Tetraplegia (HP:0002445)1.92919206
98Sudden death (HP:0001699)1.91903921
99Spinal canal stenosis (HP:0003416)1.88405504
100Inappropriate behavior (HP:0000719)1.88319054
101Rapidly progressive (HP:0003678)1.87725100
102Lower limb amyotrophy (HP:0007210)1.84900087
103Inability to walk (HP:0002540)1.84510144
104* Excessive salivation (HP:0003781)1.84023172
105* Drooling (HP:0002307)1.84023172
106* Craniofacial dystonia (HP:0012179)1.83031239
107Syncope (HP:0001279)1.82937188
108Scotoma (HP:0000575)1.82695406
109Slow progression (HP:0003677)1.82472213
110Hand muscle atrophy (HP:0009130)1.82440863
111Abnormal atrioventricular conduction (HP:0005150)1.81923242
112Psychosis (HP:0000709)1.79033953
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.78971432
114Delusions (HP:0000746)1.77299717
115* Incomplete penetrance (HP:0003829)1.77122002
116Prolonged QT interval (HP:0001657)1.76217392
117Neoplasm of the heart (HP:0100544)1.75244519
118Akinesia (HP:0002304)1.74594735
119Aplasia involving bones of the extremities (HP:0009825)1.74255448
120Aplasia of the phalanges of the hand (HP:0009802)1.74255448
121Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.74153453
122* Hemiplegia (HP:0002301)1.72031839
123Hypoventilation (HP:0002791)1.71614345

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.29196288
2NTRK34.25137396
3EPHA43.74146881
4MARK13.41175811
5MINK12.92770495
6MAP3K42.86633141
7PAK62.77785952
8DAPK22.43291491
9NTRK22.34304973
10PRKD32.31118221
11MAP2K72.21500822
12KSR22.19674633
13CAMKK12.19651297
14NTRK11.90289847
15STK381.84079489
16MAP2K41.79755686
17MAP3K121.63047025
18CDK51.61243924
19KSR11.53497758
20RIPK41.40885925
21GRK51.35441294
22PRPF4B1.32670222
23DAPK11.31348800
24FES1.29625765
25SIK21.29375266
26PHKG11.25990289
27PHKG21.25990289
28PRKCG1.24546915
29MAP3K131.24099426
30TAOK11.23825158
31PLK21.22041005
32ARAF1.21977261
33TNIK1.21497822
34CDK191.21201714
35UHMK11.20017778
36LATS21.18794068
37ALK1.18565798
38TYRO31.18541986
39CAMKK21.16127373
40MAPK131.14475378
41PRKCH1.12651584
42CAMK11.10912304
43PINK11.06820906
44NEK11.05412994
45MAP3K21.04543425
46RIPK11.03825369
47CDK151.01289755
48CDK181.00964276
49STK110.99362521
50LMTK20.95589340
51CDK140.94589772
52SGK4940.93727814
53SGK2230.93727814
54PNCK0.88985645
55CDK11A0.88760220
56CAMK2A0.83408753
57RET0.83191346
58PAK30.80802889
59PKN10.80652631
60DYRK1A0.77607895
61SGK30.76967440
62TNK20.76904900
63MARK20.75447540
64RAF10.74316873
65SGK20.70664900
66CASK0.70265955
67PDK10.68533848
68LIMK10.67622766
69SCYL20.66774541
70SGK10.66058775
71CAMK1G0.64133086
72MAP3K10.61998564
73CDC42BPA0.60665369
74CAMK2B0.60462344
75PDPK10.59623973
76MAP3K70.59009789
77BRSK10.58822082
78CSNK1G20.57617382
79RPS6KA30.56809744
80BRAF0.55925991
81PRKCZ0.55463623
82WNK10.54971641
83CAMK40.53605487
84TESK10.52938991
85NEK60.52910315
86MAP3K110.52742800
87FGFR20.52038385
88FYN0.50813466
89MAPK100.50670385
90PTK2B0.48683943
91OXSR10.48461128
92CAMK2G0.41016681
93CAMK2D0.39196468
94RPS6KA20.37495834
95FER0.37168286
96ICK0.36915876
97PRKCE0.36043623
98PRKCB0.34736182
99ERBB20.34064969
100DAPK30.31426522
101ROCK10.31353460
102ROCK20.30687791
103MAPK120.30538965
104WNK30.30527139
105PRKCA0.29451788
106MAPK80.29381465
107BMPR20.29370948
108BMX0.29192262
109DYRK20.28542269
110SRC0.26102464
111GSK3B0.24734701
112CSNK1E0.24624561

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.75928724
2Synaptic vesicle cycle_Homo sapiens_hsa047213.62006186
3GABAergic synapse_Homo sapiens_hsa047272.93908035
4Olfactory transduction_Homo sapiens_hsa047402.85288182
5Circadian entrainment_Homo sapiens_hsa047132.74605673
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63009468
7Glutamatergic synapse_Homo sapiens_hsa047242.57982576
8Morphine addiction_Homo sapiens_hsa050322.55163825
9Long-term potentiation_Homo sapiens_hsa047202.50193901
10* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.28298735
11Amphetamine addiction_Homo sapiens_hsa050312.24512304
12* Salivary secretion_Homo sapiens_hsa049702.08983690
13Dopaminergic synapse_Homo sapiens_hsa047282.07984673
14Cholinergic synapse_Homo sapiens_hsa047251.95817655
15* Insulin secretion_Homo sapiens_hsa049111.93860582
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89943697
17* Gastric acid secretion_Homo sapiens_hsa049711.80872505
18* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67917028
19Oxytocin signaling pathway_Homo sapiens_hsa049211.65058819
20Taste transduction_Homo sapiens_hsa047421.61839557
21Long-term depression_Homo sapiens_hsa047301.58584134
22Renin secretion_Homo sapiens_hsa049241.57663707
23Cocaine addiction_Homo sapiens_hsa050301.55940293
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.54867854
25Calcium signaling pathway_Homo sapiens_hsa040201.51717018
26Serotonergic synapse_Homo sapiens_hsa047261.49339685
27Nitrogen metabolism_Homo sapiens_hsa009101.48815312
28GnRH signaling pathway_Homo sapiens_hsa049121.44739214
29Phototransduction_Homo sapiens_hsa047441.44649107
30Vitamin B6 metabolism_Homo sapiens_hsa007501.36562533
31Gap junction_Homo sapiens_hsa045401.32241222
32Type II diabetes mellitus_Homo sapiens_hsa049301.30061123
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29210353
34* Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.25023376
35* cAMP signaling pathway_Homo sapiens_hsa040241.24008215
36Collecting duct acid secretion_Homo sapiens_hsa049661.19740832
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16244890
38Estrogen signaling pathway_Homo sapiens_hsa049151.14470028
39Glioma_Homo sapiens_hsa052141.13380452
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10656501
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03193722
42Axon guidance_Homo sapiens_hsa043601.01301281
43* Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.00753537
44ErbB signaling pathway_Homo sapiens_hsa040120.98782791
45* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96551026
46Melanogenesis_Homo sapiens_hsa049160.95331095
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.90994015
48Oocyte meiosis_Homo sapiens_hsa041140.87795204
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85483994
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.85368960
51Dorso-ventral axis formation_Homo sapiens_hsa043200.79942762
52Dilated cardiomyopathy_Homo sapiens_hsa054140.79442123
53Vibrio cholerae infection_Homo sapiens_hsa051100.77041357
54* Cardiac muscle contraction_Homo sapiens_hsa042600.74904324
55* Pancreatic secretion_Homo sapiens_hsa049720.74254440
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73085075
57Choline metabolism in cancer_Homo sapiens_hsa052310.70746745
58MAPK signaling pathway_Homo sapiens_hsa040100.70458737
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.68131067
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67063676
61* Thyroid hormone synthesis_Homo sapiens_hsa049180.66688557
62mTOR signaling pathway_Homo sapiens_hsa041500.63494539
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62882651
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.61975573
65Endocytosis_Homo sapiens_hsa041440.60395368
66VEGF signaling pathway_Homo sapiens_hsa043700.59615984
67* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56090957
68Glucagon signaling pathway_Homo sapiens_hsa049220.55086172
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54657009
70* Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54439731
71Type I diabetes mellitus_Homo sapiens_hsa049400.52788720
72Inositol phosphate metabolism_Homo sapiens_hsa005620.52690568
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52316823
74Ras signaling pathway_Homo sapiens_hsa040140.52289634
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.51428843
76* Bile secretion_Homo sapiens_hsa049760.51387850
77Rap1 signaling pathway_Homo sapiens_hsa040150.51290099
78Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.50719448
79Circadian rhythm_Homo sapiens_hsa047100.50437995
80Alcoholism_Homo sapiens_hsa050340.49921341
81Endometrial cancer_Homo sapiens_hsa052130.49353365
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47396402
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47287696
84Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47024778
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45659039
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45537046
87Non-small cell lung cancer_Homo sapiens_hsa052230.44981334
88Prion diseases_Homo sapiens_hsa050200.43195001
89Insulin signaling pathway_Homo sapiens_hsa049100.42312321
90Fatty acid biosynthesis_Homo sapiens_hsa000610.41638608
91Renal cell carcinoma_Homo sapiens_hsa052110.40815218
92Chemokine signaling pathway_Homo sapiens_hsa040620.40364589
93Arginine biosynthesis_Homo sapiens_hsa002200.39471256
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39418634
95Arginine and proline metabolism_Homo sapiens_hsa003300.37620879
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36141704
97AMPK signaling pathway_Homo sapiens_hsa041520.35190115
982-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.35118106
99Ovarian steroidogenesis_Homo sapiens_hsa049130.34996840
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34502969
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32949898
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32791475
103Wnt signaling pathway_Homo sapiens_hsa043100.32486651
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.31749237
105Tight junction_Homo sapiens_hsa045300.30852248
106Alzheimers disease_Homo sapiens_hsa050100.29753771
107Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28830618
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.28642230
109HIF-1 signaling pathway_Homo sapiens_hsa040660.23818044
110Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.23659623
111Hippo signaling pathway_Homo sapiens_hsa043900.21817156

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