ATP1A2

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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gamma-aminobutyric acid transport (GO:0015812)6.30987244
2L-amino acid import (GO:0043092)5.20472400
3locomotory exploration behavior (GO:0035641)5.17986028
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.76759686
5amino acid import (GO:0043090)4.63657586
6neuronal action potential propagation (GO:0019227)4.36876623
7presynaptic membrane assembly (GO:0097105)4.35386390
8alanine transport (GO:0032328)4.32436250
9synaptic vesicle maturation (GO:0016188)4.28051954
10presynaptic membrane organization (GO:0097090)4.21788897
11positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.11964841
12C4-dicarboxylate transport (GO:0015740)4.10767250
13neurotransmitter secretion (GO:0007269)4.01589670
14vocalization behavior (GO:0071625)3.98355202
15ionotropic glutamate receptor signaling pathway (GO:0035235)3.98175572
16regulation of cell communication by electrical coupling (GO:0010649)3.98134427
17sarcoplasmic reticulum calcium ion transport (GO:0070296)3.95774490
18positive regulation of synapse maturation (GO:0090129)3.95652815
19* sodium ion export (GO:0071436)3.91530154
20* cellular potassium ion homeostasis (GO:0030007)3.87848376
21regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.84006798
22positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.82595113
23regulation of long-term neuronal synaptic plasticity (GO:0048169)3.82434326
24negative regulation of sodium ion transport (GO:0010766)3.80410262
25* potassium ion import (GO:0010107)3.80030460
26regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.79675962
27positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.78397328
28positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.73006079
29glutamate secretion (GO:0014047)3.72947361
30neurotransmitter-gated ion channel clustering (GO:0072578)3.72802553
31regulation of neuronal synaptic plasticity (GO:0048168)3.69770929
32* cellular sodium ion homeostasis (GO:0006883)3.68715732
33regulation of relaxation of muscle (GO:1901077)3.65600171
34synaptic vesicle exocytosis (GO:0016079)3.64288805
35negative regulation of synaptic transmission, GABAergic (GO:0032229)3.59057303
36* cell communication by electrical coupling (GO:0010644)3.57524683
37cerebellar granule cell differentiation (GO:0021707)3.56906970
38response to auditory stimulus (GO:0010996)3.56745255
39glutamate receptor signaling pathway (GO:0007215)3.56027292
40regulation of voltage-gated calcium channel activity (GO:1901385)3.55380756
41regulation of glutamate receptor signaling pathway (GO:1900449)3.53425766
42proline transport (GO:0015824)3.52086270
43regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.51805572
44axon ensheathment in central nervous system (GO:0032291)3.50870687
45central nervous system myelination (GO:0022010)3.50870687
46auditory behavior (GO:0031223)3.47637014
47positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.45813337
48regulation of synapse structural plasticity (GO:0051823)3.45748291
49glycine transport (GO:0015816)3.45492995
50synaptic transmission, glutamatergic (GO:0035249)3.41816123
51neuromuscular synaptic transmission (GO:0007274)3.41141025
52* membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.40371053
53exploration behavior (GO:0035640)3.39967266
54synaptic vesicle docking involved in exocytosis (GO:0016081)3.36453683
55long-term memory (GO:0007616)3.35486212
56positive regulation of dendritic spine development (GO:0060999)3.34502863
57regulation of synaptic vesicle exocytosis (GO:2000300)3.27373129
58regulation of synapse maturation (GO:0090128)3.26140626
59acidic amino acid transport (GO:0015800)3.24934045
60* cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.24685872
61* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.24346051
62* neurotransmitter transport (GO:0006836)3.23677800
63regulation of neurotransmitter secretion (GO:0046928)3.23482527
64regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.21617903
65neuron cell-cell adhesion (GO:0007158)3.19636209
66negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.17108936
67layer formation in cerebral cortex (GO:0021819)3.16617685
68muscle filament sliding (GO:0030049)3.16265696
69actin-myosin filament sliding (GO:0033275)3.16265696
70regulation of neurotransmitter transport (GO:0051588)3.13858906
71regulation of dendritic spine development (GO:0060998)3.13426522
72positive regulation of potassium ion transmembrane transport (GO:1901381)3.12594871
73* regulation of neurotransmitter levels (GO:0001505)3.12167306
74regulation of dendritic spine morphogenesis (GO:0061001)3.10882108
75regulation of membrane repolarization (GO:0060306)3.07014384
76* potassium ion homeostasis (GO:0055075)3.03921140
77* membrane depolarization during action potential (GO:0086010)3.03173379
78neuron-neuron synaptic transmission (GO:0007270)3.02459198
79L-glutamate transport (GO:0015813)3.02361222
80protein localization to synapse (GO:0035418)3.01832563
81G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.01574104
82synaptic vesicle endocytosis (GO:0048488)3.01347420
83neuromuscular process controlling balance (GO:0050885)2.99860699
84low-density lipoprotein particle remodeling (GO:0034374)2.97827607
85neuromuscular process controlling posture (GO:0050884)2.95484480
86drinking behavior (GO:0042756)2.95133622
87regulation of synaptic vesicle transport (GO:1902803)2.93310068
88positive regulation of potassium ion transport (GO:0043268)2.93051839
89regulation of synaptic transmission, glutamatergic (GO:0051966)2.92805990
90cerebellar Purkinje cell differentiation (GO:0021702)2.90092308
91creatine metabolic process (GO:0006600)2.89190587
92detection of calcium ion (GO:0005513)2.88737724
93regulation of synaptic plasticity (GO:0048167)2.86483840
94transmission of nerve impulse (GO:0019226)2.85839006
95L-serine transport (GO:0015825)2.85817157
96activation of protein kinase A activity (GO:0034199)2.85526613
97regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.83029167
98regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.82694397
99gamma-aminobutyric acid signaling pathway (GO:0007214)2.80542562
100regulation of calcium ion transmembrane transport (GO:1903169)2.76743416
101regulation of calcium ion transmembrane transporter activity (GO:1901019)2.76743416
102* striated muscle contraction (GO:0006941)2.76269993
103* membrane depolarization (GO:0051899)2.75759530
104membrane hyperpolarization (GO:0060081)2.74248547
105regulation of excitatory postsynaptic membrane potential (GO:0060079)2.73746704
106prepulse inhibition (GO:0060134)2.72752892
107* neurotransmitter uptake (GO:0001504)2.72642336
108dendrite morphogenesis (GO:0048813)2.70650751
109long-term synaptic potentiation (GO:0060291)2.70179881
110negative regulation of astrocyte differentiation (GO:0048712)2.69874521
111dendritic spine morphogenesis (GO:0060997)2.68182237
112regulation of postsynaptic membrane potential (GO:0060078)2.68140386
113regulation of ARF protein signal transduction (GO:0032012)2.64490389
114mechanosensory behavior (GO:0007638)2.63429390
115* regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.63210037
116postsynaptic membrane organization (GO:0001941)2.62758447
117regulation of beta-amyloid formation (GO:1902003)2.60646297
118regulation of vesicle fusion (GO:0031338)2.60171998
119neuronal ion channel clustering (GO:0045161)2.58042106
120cellular response to cholesterol (GO:0071397)2.57192365
121positive regulation of membrane potential (GO:0045838)2.56955588
122regulation of potassium ion transmembrane transport (GO:1901379)2.56678280
123ovulation cycle (GO:0042698)2.54035780
124cell differentiation in hindbrain (GO:0021533)2.52448987
125adult walking behavior (GO:0007628)2.52174029
126long term synaptic depression (GO:0060292)2.49195062
127positive regulation of synaptic transmission (GO:0050806)2.47484651

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.93598221
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.14780838
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.96586039
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84377103
5GBX2_23144817_ChIP-Seq_PC3_Human2.77400626
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.75046860
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.75046860
8SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.66390058
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.62322360
10DROSHA_22980978_ChIP-Seq_HELA_Human2.55863699
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55829949
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51953666
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.48187905
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.47901989
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36373476
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.33703593
17AR_21572438_ChIP-Seq_LNCaP_Human2.24284965
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.17729909
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.17507808
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.15235741
21REST_21632747_ChIP-Seq_MESCs_Mouse2.14224926
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.13818056
23RARB_27405468_Chip-Seq_BRAIN_Mouse1.99791849
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.95934359
25REST_18959480_ChIP-ChIP_MESCs_Mouse1.70588715
26EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66408644
27CDX2_19796622_ChIP-Seq_MESCs_Mouse1.65460724
28* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.59554548
29RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.59306746
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.55406948
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46312177
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.44428655
33RING1B_27294783_Chip-Seq_ESCs_Mouse1.40725270
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.40027778
35PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39818458
36RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38642229
37* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33006495
38SMAD4_21799915_ChIP-Seq_A2780_Human1.31701717
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31210035
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.28922763
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.28277998
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.24718246
43CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23703824
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22622068
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22493851
46RXR_22108803_ChIP-Seq_LS180_Human1.21704994
47AR_25329375_ChIP-Seq_VCAP_Human1.20397689
48AR_19668381_ChIP-Seq_PC3_Human1.19939911
49NR3C1_21868756_ChIP-Seq_MCF10A_Human1.19022556
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18839506
51BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.18498924
52ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.17993942
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.17041746
54ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.15055248
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.14482200
56EP300_21415370_ChIP-Seq_HL-1_Mouse1.13858150
57TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12737560
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12378250
59BCAT_22108803_ChIP-Seq_LS180_Human1.10211680
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.08580008
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08561082
62TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07229900
63ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06887404
64P300_19829295_ChIP-Seq_ESCs_Human1.06545368
65KDM2B_26808549_Chip-Seq_K562_Human1.06290505
66STAT3_23295773_ChIP-Seq_U87_Human1.04608861
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.04077397
68NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.03605406
69RING1B_27294783_Chip-Seq_NPCs_Mouse1.03119056
70ZNF274_21170338_ChIP-Seq_K562_Hela1.02840247
71OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02597943
72PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02440680
73P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01523448
74ARNT_22903824_ChIP-Seq_MCF-7_Human1.00832672
75RNF2_27304074_Chip-Seq_NSC_Mouse1.00667138
76TP53_20018659_ChIP-ChIP_R1E_Mouse1.00327709
77WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00239353
78RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99667705
79ESR2_21235772_ChIP-Seq_MCF-7_Human0.97972658
80ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97906969
81GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97795087
82ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97329072
83SMAD4_21741376_ChIP-Seq_HESCs_Human0.97327502
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96917321
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95865108
86TP53_16413492_ChIP-PET_HCT116_Human0.95373365
87OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95295826
88SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94835749
89MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94568883
90TAF15_26573619_Chip-Seq_HEK293_Human0.94521216
91TP53_18474530_ChIP-ChIP_U2OS_Human0.94188552
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.93798256
93CTCF_27219007_Chip-Seq_Bcells_Human0.93705766
94AHR_22903824_ChIP-Seq_MCF-7_Human0.93422143
95TOP2B_26459242_ChIP-Seq_MCF-7_Human0.93104661
96YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92918096
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.92757363
98* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.92621923
99* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91871718
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.90599942
101CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89035735
102ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88595991
103TCF4_23295773_ChIP-Seq_U87_Human0.87709144
104SOX9_26525672_Chip-Seq_HEART_Mouse0.87279960
105AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87133782
106ESR1_15608294_ChIP-ChIP_MCF-7_Human0.85536083
107TET1_21490601_ChIP-Seq_MESCs_Mouse0.84449764
108SMAD3_21741376_ChIP-Seq_ESCs_Human0.83440163
109CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82894698
110RUNX2_22187159_ChIP-Seq_PCA_Human0.82788542
111TRIM28_21343339_ChIP-Seq_HEK293_Human0.82473156
112ZFP57_27257070_Chip-Seq_ESCs_Mouse0.82128670
113TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81452199
114POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81452199
115GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80824618
116GATA1_26923725_Chip-Seq_HPCs_Mouse0.80747779
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80069711

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.16363422
2* MP0003635_abnormal_synaptic_transmissio3.47348084
3MP0004885_abnormal_endolymph3.25616149
4MP0003880_abnormal_central_pattern3.21551762
5MP0009046_muscle_twitch3.19622624
6MP0009745_abnormal_behavioral_response2.88465280
7MP0002064_seizures2.83137268
8MP0004858_abnormal_nervous_system2.82677036
9MP0003690_abnormal_glial_cell2.74215584
10MP0001486_abnormal_startle_reflex2.63662463
11* MP0002063_abnormal_learning/memory/cond2.52933922
12MP0001968_abnormal_touch/_nociception2.38094999
13* MP0004270_analgesia2.36684754
14MP0005167_abnormal_blood-brain_barrier2.31088683
15* MP0002272_abnormal_nervous_system2.29307493
16MP0008569_lethality_at_weaning2.27831217
17* MP0002572_abnormal_emotion/affect_behav2.21785564
18MP0001501_abnormal_sleep_pattern2.08248097
19MP0003329_amyloid_beta_deposits2.06517730
20MP0001440_abnormal_grooming_behavior2.05571602
21MP0000751_myopathy1.96362418
22MP0009780_abnormal_chondrocyte_physiolo1.96089685
23MP0004215_abnormal_myocardial_fiber1.92749294
24* MP0002734_abnormal_mechanical_nocicepti1.89233382
25MP0002736_abnormal_nociception_after1.89044663
26MP0003633_abnormal_nervous_system1.88171060
27MP0002067_abnormal_sensory_capabilities1.85668105
28MP0005646_abnormal_pituitary_gland1.79031332
29MP0002822_catalepsy1.73964023
30* MP0005423_abnormal_somatic_nervous1.63915142
31MP0004145_abnormal_muscle_electrophysio1.63526465
32MP0002733_abnormal_thermal_nociception1.61896186
33MP0005377_hearing/vestibular/ear_phenot1.55507426
34MP0003878_abnormal_ear_physiology1.55507426
35MP0001485_abnormal_pinna_reflex1.55357907
36MP0001970_abnormal_pain_threshold1.54885340
37MP0003075_altered_response_to1.51166245
38MP0003646_muscle_fatigue1.50492968
39MP0002557_abnormal_social/conspecific_i1.48028236
40MP0003634_abnormal_glial_cell1.47148932
41MP0003631_nervous_system_phenotype1.45758895
42MP0004130_abnormal_muscle_cell1.44683486
43MP0004043_abnormal_pH_regulation1.41645532
44MP0002909_abnormal_adrenal_gland1.38533216
45MP0005386_behavior/neurological_phenoty1.37247981
46MP0004924_abnormal_behavior1.37247981
47MP0005645_abnormal_hypothalamus_physiol1.36651579
48MP0003137_abnormal_impulse_conducting1.36418154
49MP0004142_abnormal_muscle_tone1.33397215
50MP0000920_abnormal_myelination1.27928148
51MP0009384_cardiac_valve_regurgitation1.27125457
52MP0001502_abnormal_circadian_rhythm1.25379476
53MP0000778_abnormal_nervous_system1.25306815
54MP0006276_abnormal_autonomic_nervous1.24832897
55MP0002837_dystrophic_cardiac_calcinosis1.23513698
56* MP0002066_abnormal_motor_capabilities/c1.23357676
57MP0000955_abnormal_spinal_cord1.22403340
58MP0002106_abnormal_muscle_physiology1.20338485
59MP0002882_abnormal_neuron_morphology1.18588456
60MP0002089_abnormal_postnatal_growth/wei1.17142424
61MP0002735_abnormal_chemical_nociception1.15486276
62MP0005623_abnormal_meninges_morphology1.10918005
63MP0000759_abnormal_skeletal_muscle1.10215577
64MP0002184_abnormal_innervation1.08974647
65MP0001984_abnormal_olfaction1.06546804
66MP0004811_abnormal_neuron_physiology1.04461694
67MP0000013_abnormal_adipose_tissue1.04365251
68MP0001299_abnormal_eye_distance/1.02043296
69MP0003632_abnormal_nervous_system1.02039502
70MP0005369_muscle_phenotype1.01836929
71MP0005670_abnormal_white_adipose1.01662338
72MP0003136_yellow_coat_color1.01490226
73MP0004484_altered_response_of1.00879311
74MP0004233_abnormal_muscle_weight1.00360896
75MP0002638_abnormal_pupillary_reflex1.00132388
76MP0004085_abnormal_heartbeat0.99747465
77MP0000604_amyloidosis0.99448783
78MP0004147_increased_porphyrin_level0.99237040
79MP0004084_abnormal_cardiac_muscle0.98684394
80MP0002269_muscular_atrophy0.96650345
81MP0005535_abnormal_body_temperature0.95972057
82MP0005171_absent_coat_pigmentation0.95024496
83MP0004742_abnormal_vestibular_system0.94315492
84MP0005551_abnormal_eye_electrophysiolog0.93932054
85MP0000579_abnormal_nail_morphology0.93499894
86MP0001905_abnormal_dopamine_level0.92712263
87MP0004036_abnormal_muscle_relaxation0.92667594
88* MP0002152_abnormal_brain_morphology0.92132429
89MP0002229_neurodegeneration0.91916292
90MP0003787_abnormal_imprinting0.91519483
91MP0002332_abnormal_exercise_endurance0.90407672
92MP0001963_abnormal_hearing_physiology0.89678898
93* MP0005620_abnormal_muscle_contractility0.89535187
94MP0000749_muscle_degeneration0.87837698
95MP0002254_reproductive_system_inflammat0.87242557
96MP0002090_abnormal_vision0.86412146
97MP0001986_abnormal_taste_sensitivity0.85839150
98MP0001346_abnormal_lacrimal_gland0.84678038
99MP0003122_maternal_imprinting0.83874091
100MP0001529_abnormal_vocalization0.83830467
101MP0001177_atelectasis0.82470357
102MP0008872_abnormal_physiological_respon0.82240290
103MP0003879_abnormal_hair_cell0.81151234
104MP0000747_muscle_weakness0.81107276
105MP0006138_congestive_heart_failure0.80429925
106* MP0002972_abnormal_cardiac_muscle0.78783745
107MP0000026_abnormal_inner_ear0.77732488
108MP0008874_decreased_physiological_sensi0.75763044
109MP0004087_abnormal_muscle_fiber0.75348586
110MP0003283_abnormal_digestive_organ0.74965978
111MP0005595_abnormal_vascular_smooth0.74193433
112MP0002752_abnormal_somatic_nervous0.71290262
113MP0005165_increased_susceptibility_to0.70000756
114MP0002069_abnormal_eating/drinking_beha0.69851746
115MP0000750_abnormal_muscle_regeneration0.68611530
116MP0008961_abnormal_basal_metabolism0.67478288
117MP0005666_abnormal_adipose_tissue0.66871476
118MP0004510_myositis0.66654605
119MP0002653_abnormal_ependyma_morphology0.65886041
120MP0002249_abnormal_larynx_morphology0.64035331
121MP0005330_cardiomyopathy0.60905751
122MP0005253_abnormal_eye_physiology0.60668767

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.60476891
2Muscle fiber inclusion bodies (HP:0100299)5.42705759
3Nemaline bodies (HP:0003798)5.33084379
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.20087635
5Myokymia (HP:0002411)4.90980907
6Aplasia involving bones of the extremities (HP:0009825)4.58613658
7Aplasia involving bones of the upper limbs (HP:0009823)4.58613658
8Aplasia of the phalanges of the hand (HP:0009802)4.58613658
9Focal seizures (HP:0007359)4.20134908
10Action tremor (HP:0002345)4.08148608
11Type 1 muscle fiber predominance (HP:0003803)4.06455736
12Megalencephaly (HP:0001355)4.03145991
13Epileptic encephalopathy (HP:0200134)3.63053087
14Hyporeflexia of lower limbs (HP:0002600)3.63019409
15Dysdiadochokinesis (HP:0002075)3.59289451
16Exercise-induced myalgia (HP:0003738)3.55426639
17Visual hallucinations (HP:0002367)3.45364678
18Supranuclear gaze palsy (HP:0000605)3.37435309
19Progressive cerebellar ataxia (HP:0002073)3.32431304
20Muscle hypertrophy of the lower extremities (HP:0008968)3.29287905
21Neurofibrillary tangles (HP:0002185)3.22833180
22Muscle fiber splitting (HP:0003555)3.21511291
23* Hemiparesis (HP:0001269)3.18192918
24EMG: myopathic abnormalities (HP:0003458)3.17151957
25Postural instability (HP:0002172)3.14535860
26Atonic seizures (HP:0010819)3.01661800
27Calf muscle hypertrophy (HP:0008981)2.99622404
28* Hemiplegia (HP:0002301)2.99282308
29Abnormal eating behavior (HP:0100738)2.95286825
30Myopathic facies (HP:0002058)2.92250743
31Intention tremor (HP:0002080)2.89271063
32Facial shape deformation (HP:0011334)2.87540295
33Potter facies (HP:0002009)2.87540295
34Depression (HP:0000716)2.83420931
35Absence seizures (HP:0002121)2.80914116
36Febrile seizures (HP:0002373)2.78067995
37Fetal akinesia sequence (HP:0001989)2.77760312
38* Generalized tonic-clonic seizures (HP:0002069)2.74837759
39Distal arthrogryposis (HP:0005684)2.74778597
40Ankle clonus (HP:0011448)2.71768345
41Dysmetria (HP:0001310)2.71587664
42Synostosis involving the elbow (HP:0003938)2.70948722
43Humeroradial synostosis (HP:0003041)2.70948722
44Abnormality of the left ventricular outflow tract (HP:0011103)2.69994211
45Subaortic stenosis (HP:0001682)2.69994211
46Obstructive sleep apnea (HP:0002870)2.68912095
47Status epilepticus (HP:0002133)2.67220445
48Broad-based gait (HP:0002136)2.65830615
49Dialeptic seizures (HP:0011146)2.63340701
50Impaired vibration sensation in the lower limbs (HP:0002166)2.59528620
51Abnormality of the calf musculature (HP:0001430)2.54664161
52Truncal ataxia (HP:0002078)2.52650930
53Cerebral inclusion bodies (HP:0100314)2.52014864
54Gaze-evoked nystagmus (HP:0000640)2.51217847
55Anxiety (HP:0000739)2.48634526
56Abnormality of the axillary hair (HP:0100134)2.48297767
57Abnormality of secondary sexual hair (HP:0009888)2.48297767
58Ventricular fibrillation (HP:0001663)2.47642259
59Limb dystonia (HP:0002451)2.47034660
60Frequent falls (HP:0002359)2.46566106
61EMG: neuropathic changes (HP:0003445)2.44429527
62Split foot (HP:0001839)2.42363981
63* Abnormality of binocular vision (HP:0011514)2.39025421
64* Diplopia (HP:0000651)2.39025421
65Neck muscle weakness (HP:0000467)2.32823177
66Bundle branch block (HP:0011710)2.32207135
67Abnormality of the foot musculature (HP:0001436)2.31745832
68Clumsiness (HP:0002312)2.29374075
69Urinary bladder sphincter dysfunction (HP:0002839)2.29123135
70Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.28701888
71Fibular aplasia (HP:0002990)2.28146426
72Annular pancreas (HP:0001734)2.27965315
73Torticollis (HP:0000473)2.27273020
74Poor eye contact (HP:0000817)2.26976596
75Onycholysis (HP:0001806)2.26235392
76Centrally nucleated skeletal muscle fibers (HP:0003687)2.25120307
77Round ear (HP:0100830)2.25069930
78Foot dorsiflexor weakness (HP:0009027)2.24868478
79Akinesia (HP:0002304)2.24545486
80Difficulty running (HP:0009046)2.23491785
81Rhabdomyolysis (HP:0003201)2.23305018
82Cerebral hypomyelination (HP:0006808)2.21345347
83Prolonged QT interval (HP:0001657)2.21320652
84Impaired social interactions (HP:0000735)2.18067807
85Abnormal social behavior (HP:0012433)2.18067807
86Mutism (HP:0002300)2.17703668
87Peripheral hypomyelination (HP:0007182)2.17377890
88Exercise-induced muscle cramps (HP:0003710)2.17139567
89Rimmed vacuoles (HP:0003805)2.16548494
90Short hallux (HP:0010109)2.16181059
91Scanning speech (HP:0002168)2.15817686
92Lower limb muscle weakness (HP:0007340)2.15501359
93Papilledema (HP:0001085)2.13279167
94Heart block (HP:0012722)2.12443143
95Increased circulating renin level (HP:0000848)2.12201417
96Pheochromocytoma (HP:0002666)2.11181059
97Abnormality of skeletal muscle fiber size (HP:0012084)2.07455471
98Hypoplastic left heart (HP:0004383)2.07257002
99Bradykinesia (HP:0002067)2.06192195
100Dysmetric saccades (HP:0000641)2.05888377
101Atrioventricular block (HP:0001678)2.03559392
102Lower limb amyotrophy (HP:0007210)2.03482993
103Hyperventilation (HP:0002883)2.03120071
104Spastic tetraparesis (HP:0001285)2.01422827
105Increased variability in muscle fiber diameter (HP:0003557)2.00313687
106Rapidly progressive (HP:0003678)2.00137928
107Narrow nasal bridge (HP:0000446)1.99900551
108Sleep apnea (HP:0010535)1.99682988
109Rigidity (HP:0002063)1.95928703
110Aplasia/Hypoplasia of the hallux (HP:0008362)1.95258701
111Broad metatarsal (HP:0001783)1.95237980
112Oligodactyly (hands) (HP:0001180)1.95146903
113Neuroendocrine neoplasm (HP:0100634)1.95040814
114Syncope (HP:0001279)1.94713434
115Athetosis (HP:0002305)1.92956111
116Spastic gait (HP:0002064)1.92866934
117Urinary urgency (HP:0000012)1.92751294
118Adactyly (HP:0009776)1.91110387
119Abnormal atrioventricular conduction (HP:0005150)1.90409578
120Clonus (HP:0002169)1.90240919
121Abnormality of the periventricular white matter (HP:0002518)1.88240500
122Abnormal EKG (HP:0003115)1.87996782
123Neoplasm of the heart (HP:0100544)1.87221055
124Impaired smooth pursuit (HP:0007772)1.86995882
125Bronchomalacia (HP:0002780)1.85214159
126Myoglobinuria (HP:0002913)1.84189435
127Sudden death (HP:0001699)1.83939824
128Atrial fibrillation (HP:0005110)1.83308259
129Ketoacidosis (HP:0001993)1.82830512
130Insomnia (HP:0100785)1.82256495
131Abnormality of the middle phalanges of the toes (HP:0010183)1.81573223
132Stereotypic behavior (HP:0000733)1.81473599
133Metabolic alkalosis (HP:0200114)1.81303613
134Ventricular arrhythmia (HP:0004308)1.80957424
135Neuronal loss in central nervous system (HP:0002529)1.79107213
136Muscle stiffness (HP:0003552)1.78837889
137Impaired vibratory sensation (HP:0002495)1.78501195
138Myotonia (HP:0002486)1.77715891
139Psychosis (HP:0000709)1.74872501
140Primary atrial arrhythmia (HP:0001692)1.73692491

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA43.70547305
2NTRK33.32946321
3NTRK22.95473954
4PHKG22.78214898
5PHKG12.78214898
6TNIK2.74270556
7PRKD32.71927159
8LMTK22.43074563
9MAP3K92.39605245
10MINK12.02376464
11CAMK1G2.00438953
12MAP3K41.97475070
13PAK61.96081582
14MARK11.95946929
15STK381.66540903
16DAPK21.65625265
17CAMKK11.65061171
18NTRK11.59970003
19CASK1.52774750
20TTN1.52051563
21PINK11.46114911
22MAP2K71.45303735
23CAMK1D1.43512232
24MUSK1.39940902
25KSR21.39567855
26SGK21.38710952
27MAP2K41.35818856
28SGK2231.34435742
29SGK4941.34435742
30MAPK131.32756254
31CDK51.32289076
32TYRO31.28210419
33SGK31.26555735
34FES1.25473025
35PRKCG1.23685808
36TRIB31.15666010
37MAPK121.15480642
38PRKCH1.13714285
39RIPK41.12118219
40PNCK1.11644598
41CAMK11.10820840
42CAMKK21.08860589
43TNK21.03164600
44RIPK11.03129692
45NEK60.98720658
46CAMK2A0.93532892
47GRK50.91701877
48DMPK0.91500695
49WNK10.91493000
50OBSCN0.88445749
51PAK30.88060522
52CAMK2G0.87586062
53UHMK10.83821351
54CDC42BPA0.82817461
55MAPK100.82511539
56ROCK10.81352014
57PRPF4B0.79321300
58STK110.78966419
59PDPK10.76749038
60CDK150.76574326
61SGK10.75158220
62ROCK20.74869111
63CAMK2B0.74019367
64PRKD20.72135212
65CDK180.71912701
66CAMK2D0.71251252
67MARK20.70786007
68KSR10.70528478
69SIK10.69859179
70PDGFRA0.68857318
71CCNB10.68703866
72DYRK1A0.68594045
73MAP3K70.68100022
74PRKCE0.67775243
75LIMK10.67080877
76PDK30.66092059
77PDK40.66092059
78RPS6KA30.64395279
79CDK11A0.63849034
80PDK10.63778307
81MOS0.63170373
82CDK140.63066546
83PRKD10.62934339
84PRKAA20.62778505
85MAP3K130.62237286
86OXSR10.59473256
87FGFR20.58989773
88RET0.58754616
89ARAF0.58574677
90CAMK40.58565020
91ALK0.58393012
92TAOK10.58066196
93CDK190.57703312
94PIK3CA0.56621830
95BMX0.56169884
96PKN10.55894848
97PRKAA10.55023545
98SIK20.54893571
99LATS20.54698306
100MAP3K20.54663381
101MAPK70.53986404
102PLK20.52235336
103DAPK10.51099399
104FYN0.50519505
105PRKG10.49137774
106DDR20.48888590
107MAPK150.48677220
108RAF10.48344086
109MAPK40.46703335
110MAP2K10.41556054
111PRKACA0.40666059
112CSNK1G20.39236044
113MAPKAPK50.36751985
114AKT20.36064607
115PRKCZ0.35673395
116RPS6KB10.35258055
117PRKCA0.32446766
118ERBB20.28040274

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009105.40957352
2Nicotine addiction_Homo sapiens_hsa050333.06446888
3GABAergic synapse_Homo sapiens_hsa047272.63247478
4Fatty acid biosynthesis_Homo sapiens_hsa000612.59350750
5* Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.47564533
6Glutamatergic synapse_Homo sapiens_hsa047242.31313238
7Circadian entrainment_Homo sapiens_hsa047132.13056849
8* Salivary secretion_Homo sapiens_hsa049702.04322410
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.03813293
10Morphine addiction_Homo sapiens_hsa050322.03626787
11Olfactory transduction_Homo sapiens_hsa047401.92924378
12* Gastric acid secretion_Homo sapiens_hsa049711.88760426
13Long-term potentiation_Homo sapiens_hsa047201.83567111
14Synaptic vesicle cycle_Homo sapiens_hsa047211.80596728
15* Insulin secretion_Homo sapiens_hsa049111.71710471
16Renin secretion_Homo sapiens_hsa049241.64840922
17Amphetamine addiction_Homo sapiens_hsa050311.62624829
18* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.52708351
19* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.50427622
20Calcium signaling pathway_Homo sapiens_hsa040201.50047553
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.37545653
22Dopaminergic synapse_Homo sapiens_hsa047281.33655895
23Taste transduction_Homo sapiens_hsa047421.32637066
24Cholinergic synapse_Homo sapiens_hsa047251.31783473
25Oxytocin signaling pathway_Homo sapiens_hsa049211.27107695
26Dilated cardiomyopathy_Homo sapiens_hsa054141.25284549
27* cAMP signaling pathway_Homo sapiens_hsa040241.25163484
28Fatty acid metabolism_Homo sapiens_hsa012121.24520448
29Long-term depression_Homo sapiens_hsa047301.24496808
30Dorso-ventral axis formation_Homo sapiens_hsa043201.23339547
31Cocaine addiction_Homo sapiens_hsa050301.19721673
32Vitamin B6 metabolism_Homo sapiens_hsa007501.17038597
33Arginine and proline metabolism_Homo sapiens_hsa003301.14915170
34Gap junction_Homo sapiens_hsa045401.13666898
35* Cardiac muscle contraction_Homo sapiens_hsa042601.13104804
36Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.12275816
37Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.08972686
38* Bile secretion_Homo sapiens_hsa049761.07922444
39Serotonergic synapse_Homo sapiens_hsa047261.07274824
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.07188699
41GnRH signaling pathway_Homo sapiens_hsa049121.04833221
42* Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02352427
43Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.98993170
44* Pancreatic secretion_Homo sapiens_hsa049720.97686630
45Melanogenesis_Homo sapiens_hsa049160.93860330
46Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.92433679
47Fatty acid degradation_Homo sapiens_hsa000710.92322423
48* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90986491
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90682716
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.90232674
51Arginine biosynthesis_Homo sapiens_hsa002200.88615149
52Type II diabetes mellitus_Homo sapiens_hsa049300.88596082
53Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.88334289
54Histidine metabolism_Homo sapiens_hsa003400.88217758
55PPAR signaling pathway_Homo sapiens_hsa033200.86301818
56beta-Alanine metabolism_Homo sapiens_hsa004100.84848837
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.84097508
58Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80413106
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.80205881
60Estrogen signaling pathway_Homo sapiens_hsa049150.77833491
61Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.74467806
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73723871
63Prion diseases_Homo sapiens_hsa050200.71471590
64Glycerolipid metabolism_Homo sapiens_hsa005610.70354336
65Oocyte meiosis_Homo sapiens_hsa041140.70203919
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69430490
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.68795225
68Glycerophospholipid metabolism_Homo sapiens_hsa005640.68505861
69Choline metabolism in cancer_Homo sapiens_hsa052310.67466839
70Glucagon signaling pathway_Homo sapiens_hsa049220.65655974
71* Thyroid hormone synthesis_Homo sapiens_hsa049180.65639124
72Propanoate metabolism_Homo sapiens_hsa006400.64968932
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.62982448
74Glioma_Homo sapiens_hsa052140.62757994
75Alzheimers disease_Homo sapiens_hsa050100.62472608
76Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.62116088
77Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.61840758
78Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.61735195
79Axon guidance_Homo sapiens_hsa043600.61441254
80Circadian rhythm_Homo sapiens_hsa047100.59246462
81Butanoate metabolism_Homo sapiens_hsa006500.57400116
82* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56810356
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54375404
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.52271056
85* Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51844874
86Tight junction_Homo sapiens_hsa045300.51465476
87Phototransduction_Homo sapiens_hsa047440.51041823
88ErbB signaling pathway_Homo sapiens_hsa040120.50934356
89Hedgehog signaling pathway_Homo sapiens_hsa043400.49262490
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48621391
91Rap1 signaling pathway_Homo sapiens_hsa040150.47227664
92Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.47060480
93MAPK signaling pathway_Homo sapiens_hsa040100.46302978
94Collecting duct acid secretion_Homo sapiens_hsa049660.45732948
95Carbon metabolism_Homo sapiens_hsa012000.45712303
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.44998083
97Pyruvate metabolism_Homo sapiens_hsa006200.41903034
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41824638
99Insulin signaling pathway_Homo sapiens_hsa049100.41276205
100Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.41115937
101Ras signaling pathway_Homo sapiens_hsa040140.38935459
102Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.36775931
103Inositol phosphate metabolism_Homo sapiens_hsa005620.36125439
104Basal cell carcinoma_Homo sapiens_hsa052170.35951262
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35312691
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34207947
107Insulin resistance_Homo sapiens_hsa049310.32137514
108Ovarian steroidogenesis_Homo sapiens_hsa049130.31893498
109Hippo signaling pathway_Homo sapiens_hsa043900.30843200
110Wnt signaling pathway_Homo sapiens_hsa043100.27784580
111VEGF signaling pathway_Homo sapiens_hsa043700.26972161
112Proteoglycans in cancer_Homo sapiens_hsa052050.26754438
113African trypanosomiasis_Homo sapiens_hsa051430.26612782
114Endocytosis_Homo sapiens_hsa041440.25338145
115AMPK signaling pathway_Homo sapiens_hsa041520.23903427
116Type I diabetes mellitus_Homo sapiens_hsa049400.23780668
117* Mineral absorption_Homo sapiens_hsa049780.23657012

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