ATP1B1

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 Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.95742449
2vocalization behavior (GO:0071625)5.49347018
3synaptic vesicle maturation (GO:0016188)5.47836229
4locomotory exploration behavior (GO:0035641)5.47077416
5synaptic vesicle exocytosis (GO:0016079)5.33720790
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.29741994
7glutamate secretion (GO:0014047)5.14034034
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.07247674
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.89250203
10ionotropic glutamate receptor signaling pathway (GO:0035235)4.84090808
11regulation of synaptic vesicle exocytosis (GO:2000300)4.70499863
12regulation of glutamate receptor signaling pathway (GO:1900449)4.69035522
13neuronal action potential propagation (GO:0019227)4.68342175
14* cellular sodium ion homeostasis (GO:0006883)4.51696323
15exploration behavior (GO:0035640)4.49227590
16neurotransmitter secretion (GO:0007269)4.43871614
17protein localization to synapse (GO:0035418)4.43143561
18glutamate receptor signaling pathway (GO:0007215)4.38144374
19neuron cell-cell adhesion (GO:0007158)4.35836668
20regulation of long-term neuronal synaptic plasticity (GO:0048169)4.35178950
21regulation of synaptic vesicle transport (GO:1902803)4.27625095
22synaptic vesicle docking involved in exocytosis (GO:0016081)4.27081304
23cerebellar granule cell differentiation (GO:0021707)4.25458994
24regulation of neuronal synaptic plasticity (GO:0048168)4.21193420
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.14561486
26synaptic transmission, glutamatergic (GO:0035249)4.12478247
27neuron-neuron synaptic transmission (GO:0007270)4.01118200
28layer formation in cerebral cortex (GO:0021819)3.99214977
29gamma-aminobutyric acid transport (GO:0015812)3.96489850
30proline transport (GO:0015824)3.95518916
31long-term memory (GO:0007616)3.80632537
32* cell communication involved in cardiac conduction (GO:0086065)3.80438556
33regulation of synapse structural plasticity (GO:0051823)3.78198621
34gamma-aminobutyric acid signaling pathway (GO:0007214)3.74079920
35neurotransmitter transport (GO:0006836)3.72036590
36neuron recognition (GO:0008038)3.71276229
37positive regulation of synapse maturation (GO:0090129)3.69394779
38regulation of excitatory postsynaptic membrane potential (GO:0060079)3.65157672
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.51482636
40activation of protein kinase A activity (GO:0034199)3.51358327
41dendritic spine morphogenesis (GO:0060997)3.50788733
42regulation of synaptic plasticity (GO:0048167)3.50711701
43positive regulation of membrane potential (GO:0045838)3.49447348
44regulation of postsynaptic membrane potential (GO:0060078)3.48986432
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.44736126
46neurotransmitter-gated ion channel clustering (GO:0072578)3.44666866
47response to parathyroid hormone (GO:0071107)3.44544448
48long-term synaptic potentiation (GO:0060291)3.41232340
49regulation of neurotransmitter levels (GO:0001505)3.40602509
50transmission of nerve impulse (GO:0019226)3.39304228
51regulation of dendritic spine morphogenesis (GO:0061001)3.39128761
52* relaxation of cardiac muscle (GO:0055119)3.37093186
53synaptic vesicle endocytosis (GO:0048488)3.35635285
54axonal fasciculation (GO:0007413)3.33958270
55regulation of vesicle fusion (GO:0031338)3.29422675
56response to histamine (GO:0034776)3.29419109
57* potassium ion homeostasis (GO:0055075)3.29418012
58regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.29348704
59negative regulation of dendrite morphogenesis (GO:0050774)3.27916752
60regulation of cell communication by electrical coupling (GO:0010649)3.27866195
61neuromuscular process controlling posture (GO:0050884)3.27544123
62regulation of voltage-gated calcium channel activity (GO:1901385)3.23406537
63cerebellar Purkinje cell differentiation (GO:0021702)3.22657245
64* cellular potassium ion homeostasis (GO:0030007)3.22615542
65serotonin metabolic process (GO:0042428)3.18411332
66* regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.18062744
67G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.16510355
68behavioral fear response (GO:0001662)3.16468253
69behavioral defense response (GO:0002209)3.16468253
70negative regulation of cytosolic calcium ion concentration (GO:0051481)3.16062956
71vesicle transport along microtubule (GO:0047496)3.15710839
72neuromuscular process controlling balance (GO:0050885)3.15557044
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.13510641
74regulation of neurotransmitter secretion (GO:0046928)3.13223294
75positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.11578933
76innervation (GO:0060384)3.09871432
77regulation of synaptic transmission, glutamatergic (GO:0051966)3.08702795
78G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.08582149
79mating behavior (GO:0007617)3.04177987
80membrane depolarization during action potential (GO:0086010)3.03317324
81L-amino acid import (GO:0043092)3.03304676
82fear response (GO:0042596)3.02588653
83membrane depolarization (GO:0051899)3.02272099
84* cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.00841654
85synaptic transmission (GO:0007268)2.97162873
86membrane hyperpolarization (GO:0060081)2.96962332
87detection of calcium ion (GO:0005513)2.96507362
88cytoskeletal anchoring at plasma membrane (GO:0007016)2.94813828
89synapse assembly (GO:0007416)2.93556340
90glycine transport (GO:0015816)2.93395157
91learning (GO:0007612)2.92772692
92postsynaptic membrane organization (GO:0001941)2.92379869
93cardiac conduction (GO:0061337)2.92269493
94negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.91936631
95relaxation of smooth muscle (GO:0044557)2.90820495
96startle response (GO:0001964)2.90740986
97regulation of dendritic spine development (GO:0060998)2.90346888
98long term synaptic depression (GO:0060292)2.90340795
99central nervous system myelination (GO:0022010)2.90181881
100axon ensheathment in central nervous system (GO:0032291)2.90181881
101regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.89888576
102intraspecies interaction between organisms (GO:0051703)2.88756072
103social behavior (GO:0035176)2.88756072
104regulation of neurotransmitter transport (GO:0051588)2.88721668
105positive regulation of neurotransmitter secretion (GO:0001956)2.88217964
106regulation of synaptic transmission (GO:0050804)2.87529326
107dendrite morphogenesis (GO:0048813)2.87039800
108* sodium ion homeostasis (GO:0055078)2.86423831
109regulation of clathrin-mediated endocytosis (GO:2000369)2.86204419
110dendritic spine organization (GO:0097061)2.85611469
111positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84639325
112* potassium ion import (GO:0010107)2.84320002
113regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.82886307
114positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.82511765
115primary amino compound metabolic process (GO:1901160)2.82378384
116positive regulation of neurotransmitter transport (GO:0051590)2.81826930
117organelle transport along microtubule (GO:0072384)2.81707129
118positive regulation of dendritic spine development (GO:0060999)2.81567818
119* sodium ion export (GO:0071436)2.80783824
120regulation of ARF protein signal transduction (GO:0032012)2.80666184
121positive regulation of synaptic transmission (GO:0050806)2.78985855
122regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.78943158
123* cell communication by electrical coupling (GO:0010644)2.78897400
124behavioral response to cocaine (GO:0048148)2.77998701
125chemosensory behavior (GO:0007635)2.77890572
126neuromuscular process (GO:0050905)2.77832010
127regulation of synapse maturation (GO:0090128)2.76532116
128amino acid import (GO:0043090)2.75929719
129regulation of heart rate by cardiac conduction (GO:0086091)2.67893017
130* regulation of sodium ion transmembrane transporter activity (GO:2000649)2.62391540
131short-term memory (GO:0007614)2.61099018
132cerebellar Purkinje cell layer development (GO:0021680)2.60461279
133neurotransmitter uptake (GO:0001504)2.58277266
134neuronal ion channel clustering (GO:0045161)2.54460972

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.08307803
2GBX2_23144817_ChIP-Seq_PC3_Human3.40510899
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15163075
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.12705077
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.02607947
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70965977
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70965977
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67126451
9REST_21632747_ChIP-Seq_MESCs_Mouse2.65031615
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62016057
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57257479
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52208537
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50087460
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48465730
15* RARB_27405468_Chip-Seq_BRAIN_Mouse2.47790428
16DROSHA_22980978_ChIP-Seq_HELA_Human2.45850349
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.29730356
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.22548557
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.20715014
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.19647635
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.15973941
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.15415563
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.07648389
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88011052
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.85252203
26TAF15_26573619_Chip-Seq_HEK293_Human1.78829066
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74577385
28AR_21572438_ChIP-Seq_LNCaP_Human1.73027786
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.72462361
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.71751305
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.70810991
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.70569217
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.67276515
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66783393
35ERG_21242973_ChIP-ChIP_JURKAT_Human1.60128078
36ZNF274_21170338_ChIP-Seq_K562_Hela1.57460263
37* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53086314
38* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.45014168
39NR3C1_23031785_ChIP-Seq_PC12_Mouse1.42775479
40* ESR2_21235772_ChIP-Seq_MCF-7_Human1.36975599
41TRIM28_21343339_ChIP-Seq_HEK293_Human1.35860313
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35682189
43P300_19829295_ChIP-Seq_ESCs_Human1.35528101
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33552180
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.30681277
46CTNNB1_20460455_ChIP-Seq_HCT116_Human1.29836241
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.29320938
48RING1B_27294783_Chip-Seq_ESCs_Mouse1.29121893
49THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.28719028
50AR_25329375_ChIP-Seq_VCAP_Human1.28513336
51* EP300_21415370_ChIP-Seq_HL-1_Mouse1.28502624
52CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27878157
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26499391
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26417484
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.25037811
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.23435129
57RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21491460
58GATA1_22025678_ChIP-Seq_K562_Human1.20244275
59GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18900250
60AR_19668381_ChIP-Seq_PC3_Human1.18755950
61CDX2_20551321_ChIP-Seq_CACO-2_Human1.18326476
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.17797100
63STAT3_23295773_ChIP-Seq_U87_Human1.17231061
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.16204788
65RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14907169
66DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14015132
67* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13427408
68* ESR1_21235772_ChIP-Seq_MCF-7_Human1.13397977
69* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13356612
70OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13043136
71TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12759754
72TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11878637
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11509309
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10469488
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09186691
76* ARNT_22903824_ChIP-Seq_MCF-7_Human1.08991097
77VDR_22108803_ChIP-Seq_LS180_Human1.07330452
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.07149909
79NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06242415
80CBX2_27304074_Chip-Seq_ESCs_Mouse1.05513558
81* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04977505
82ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04898515
83WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03519494
84* AHR_22903824_ChIP-Seq_MCF-7_Human1.02858865
85TP53_16413492_ChIP-PET_HCT116_Human1.01608432
86IGF1R_20145208_ChIP-Seq_DFB_Human1.01568715
87BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.01123779
88* RING1B_27294783_Chip-Seq_NPCs_Mouse1.01112025
89YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00635217
90PRDM14_20953172_ChIP-Seq_ESCs_Human1.00304525
91* TCF4_23295773_ChIP-Seq_U87_Human1.00018979
92P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99919852
93* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99498873
94BCAT_22108803_ChIP-Seq_LS180_Human0.99088591
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.98725050
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.98273722
97UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97735460
98* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.97539330
99SMAD4_21741376_ChIP-Seq_HESCs_Human0.96745999
100RUNX2_22187159_ChIP-Seq_PCA_Human0.95432158
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95265628
102CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95147543
103* KDM2B_26808549_Chip-Seq_K562_Human0.95134562
104* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94880617
105FOXA2_19822575_ChIP-Seq_HepG2_Human0.94762091
106NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94623576
107POU3F2_20337985_ChIP-ChIP_501MEL_Human0.94315521
108ZFP281_18757296_ChIP-ChIP_E14_Mouse0.92260864
109LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92031559
110RXR_22108803_ChIP-Seq_LS180_Human0.91273171
111TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.91105237
112* NANOG_18555785_Chip-Seq_ESCs_Mouse0.90782869
113RNF2_27304074_Chip-Seq_NSC_Mouse0.90039856
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.89671869
115MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.88893789
116TET1_21490601_ChIP-Seq_MESCs_Mouse0.87837365
117* TP53_18474530_ChIP-ChIP_U2OS_Human0.86321211
118JUN_21703547_ChIP-Seq_K562_Human0.85110634
119RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.83691966
120SMAD4_21741376_ChIP-Seq_EPCs_Human0.83125514
121* FUS_26573619_Chip-Seq_HEK293_Human0.81004485

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.45307220
2MP0003880_abnormal_central_pattern5.00288186
3MP0003635_abnormal_synaptic_transmissio4.17479122
4MP0004270_analgesia3.64064785
5MP0009745_abnormal_behavioral_response3.46162058
6MP0002063_abnormal_learning/memory/cond3.29988031
7MP0002064_seizures3.17532844
8MP0009046_muscle_twitch3.10614909
9MP0001968_abnormal_touch/_nociception2.98870999
10MP0002572_abnormal_emotion/affect_behav2.78501588
11MP0002272_abnormal_nervous_system2.61280389
12MP0002734_abnormal_mechanical_nocicepti2.55735218
13MP0001501_abnormal_sleep_pattern2.51053904
14MP0002822_catalepsy2.49476625
15MP0002736_abnormal_nociception_after2.42425452
16MP0001486_abnormal_startle_reflex2.41029108
17MP0002735_abnormal_chemical_nociception2.39822067
18MP0001440_abnormal_grooming_behavior2.38076165
19MP0005423_abnormal_somatic_nervous2.31414222
20MP0003329_amyloid_beta_deposits2.26006834
21MP0000678_abnormal_parathyroid_gland2.25913669
22MP0003195_calcinosis2.10710110
23MP0002733_abnormal_thermal_nociception2.07892481
24MP0002067_abnormal_sensory_capabilities2.00684272
25MP0009780_abnormal_chondrocyte_physiolo1.97584349
26MP0001970_abnormal_pain_threshold1.94751633
27MP0002909_abnormal_adrenal_gland1.88840899
28MP0008569_lethality_at_weaning1.82140045
29MP0006276_abnormal_autonomic_nervous1.80944112
30MP0004858_abnormal_nervous_system1.80147620
31MP0002184_abnormal_innervation1.74545117
32MP0004924_abnormal_behavior1.71553565
33MP0005386_behavior/neurological_phenoty1.71553565
34MP0002557_abnormal_social/conspecific_i1.68929534
35MP0003879_abnormal_hair_cell1.63014504
36MP0000778_abnormal_nervous_system1.61367580
37MP0004811_abnormal_neuron_physiology1.58827185
38MP0002837_dystrophic_cardiac_calcinosis1.53787738
39MP0004885_abnormal_endolymph1.53337737
40MP0001984_abnormal_olfaction1.50572874
41MP0004043_abnormal_pH_regulation1.42446524
42MP0000955_abnormal_spinal_cord1.41711029
43MP0002066_abnormal_motor_capabilities/c1.39996139
44MP0004147_increased_porphyrin_level1.35237319
45MP0003633_abnormal_nervous_system1.29022650
46MP0002882_abnormal_neuron_morphology1.28745392
47MP0010234_abnormal_vibrissa_follicle1.25946189
48MP0005646_abnormal_pituitary_gland1.25545440
49MP0001529_abnormal_vocalization1.23157584
50MP0004084_abnormal_cardiac_muscle1.19558919
51MP0004142_abnormal_muscle_tone1.19496655
52MP0001905_abnormal_dopamine_level1.18886622
53MP0000751_myopathy1.17717203
54MP0008872_abnormal_physiological_respon1.16331658
55MP0001502_abnormal_circadian_rhythm1.15745163
56MP0003787_abnormal_imprinting1.15301990
57MP0005645_abnormal_hypothalamus_physiol1.14955921
58MP0002139_abnormal_hepatobiliary_system1.14374521
59MP0003631_nervous_system_phenotype1.09161921
60MP0004145_abnormal_muscle_electrophysio1.08356991
61MP0000604_amyloidosis1.06334692
62MP0003122_maternal_imprinting1.03901804
63MP0010386_abnormal_urinary_bladder1.03341692
64MP0003283_abnormal_digestive_organ1.02487767
65MP0008875_abnormal_xenobiotic_pharmacok1.02285750
66MP0004036_abnormal_muscle_relaxation1.01455330
67MP0005535_abnormal_body_temperature1.01451434
68MP0000013_abnormal_adipose_tissue1.01349939
69MP0005409_darkened_coat_color1.00667987
70MP0002152_abnormal_brain_morphology0.98359153
71MP0002638_abnormal_pupillary_reflex0.95959325
72MP0002069_abnormal_eating/drinking_beha0.95870012
73MP0008961_abnormal_basal_metabolism0.95547367
74MP0001756_abnormal_urination0.93920491
75MP0001348_abnormal_lacrimal_gland0.93716520
76MP0001765_abnormal_ion_homeostasis0.93408359
77MP0002229_neurodegeneration0.93267665
78MP0001188_hyperpigmentation0.92999795
79MP0002876_abnormal_thyroid_physiology0.92477095
80MP0003123_paternal_imprinting0.87229715
81MP0001177_atelectasis0.86055642
82MP0004085_abnormal_heartbeat0.85254027
83MP0001664_abnormal_digestion0.83231296
84MP0004742_abnormal_vestibular_system0.82399863
85* MP0008874_decreased_physiological_sensi0.81739747
86MP0001963_abnormal_hearing_physiology0.81481106
87MP0003075_altered_response_to0.79384135
88MP0003632_abnormal_nervous_system0.77657522
89MP0000566_synostosis0.77266034
90MP0003183_abnormal_peptide_metabolism0.73708517
91MP0005551_abnormal_eye_electrophysiolog0.72372144
92* MP0004484_altered_response_of0.72256675
93* MP0004215_abnormal_myocardial_fiber0.71904256
94MP0004233_abnormal_muscle_weight0.71093435
95MP0005394_taste/olfaction_phenotype0.70383215
96MP0005499_abnormal_olfactory_system0.70383215
97MP0004019_abnormal_vitamin_homeostasis0.70319316
98MP0010678_abnormal_skin_adnexa0.70215098
99MP0005166_decreased_susceptibility_to0.69939421
100MP0003634_abnormal_glial_cell0.69754276
101MP0008775_abnormal_heart_ventricle0.69039031
102MP0001485_abnormal_pinna_reflex0.68693632
103MP0005636_abnormal_mineral_homeostasis0.66926472
104MP0003137_abnormal_impulse_conducting0.64789376
105MP0005167_abnormal_blood-brain_barrier0.64781969
106MP0003690_abnormal_glial_cell0.64327444
107MP0002752_abnormal_somatic_nervous0.62523741
108MP0005332_abnormal_amino_acid0.62090218
109MP0004510_myositis0.60872378
110MP0003646_muscle_fatigue0.60510762
111MP0001346_abnormal_lacrimal_gland0.60387040
112MP0000920_abnormal_myelination0.59927040
113MP0000747_muscle_weakness0.58231759
114MP0005187_abnormal_penis_morphology0.56502785
115MP0000631_abnormal_neuroendocrine_gland0.55115838
116MP0002090_abnormal_vision0.53950171
117MP0001943_abnormal_respiration0.52832480
118MP0002234_abnormal_pharynx_morphology0.51740862
119MP0003956_abnormal_body_size0.49678358
120MP0005623_abnormal_meninges_morphology0.48876339
121MP0010769_abnormal_survival0.48639461

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.99865897
2Myokymia (HP:0002411)6.37653585
3Focal seizures (HP:0007359)5.76315564
4Visual hallucinations (HP:0002367)5.55482679
5Atonic seizures (HP:0010819)5.00783669
6Epileptic encephalopathy (HP:0200134)4.66479544
7Febrile seizures (HP:0002373)4.57063681
8Absence seizures (HP:0002121)4.50220765
9Hyperphosphatemia (HP:0002905)4.22816603
10Progressive cerebellar ataxia (HP:0002073)4.21958927
11Dialeptic seizures (HP:0011146)4.02461556
12Generalized tonic-clonic seizures (HP:0002069)3.97581062
13Tetany (HP:0001281)3.94950162
14Action tremor (HP:0002345)3.80064344
15Supranuclear gaze palsy (HP:0000605)3.64076271
16Hyperventilation (HP:0002883)3.57578788
17Broad-based gait (HP:0002136)3.39008795
18Poor eye contact (HP:0000817)3.21836911
19Cerebral inclusion bodies (HP:0100314)3.13696544
20Abnormal social behavior (HP:0012433)3.10573919
21Impaired social interactions (HP:0000735)3.10573919
22Anxiety (HP:0000739)3.10034859
23Gaze-evoked nystagmus (HP:0000640)3.09394014
24Dysdiadochokinesis (HP:0002075)3.07095112
25Depression (HP:0000716)3.06527343
26Dysmetria (HP:0001310)3.02845727
27Abnormality of calcium-phosphate metabolism (HP:0100530)3.00747649
28Impaired vibration sensation in the lower limbs (HP:0002166)3.00203988
29Abnormal eating behavior (HP:0100738)2.99694144
30Amblyopia (HP:0000646)2.98950610
31Truncal ataxia (HP:0002078)2.97544763
32Neurofibrillary tangles (HP:0002185)2.91583470
33Increased circulating renin level (HP:0000848)2.91331990
34Mutism (HP:0002300)2.82803609
35Ankle clonus (HP:0011448)2.81064766
36Postural instability (HP:0002172)2.78475356
37Ventricular fibrillation (HP:0001663)2.68894949
38Urinary bladder sphincter dysfunction (HP:0002839)2.67688985
39Progressive inability to walk (HP:0002505)2.66173899
40Drooling (HP:0002307)2.65292545
41Excessive salivation (HP:0003781)2.65292545
42Papilledema (HP:0001085)2.62249094
43Diplopia (HP:0000651)2.60356018
44Abnormality of binocular vision (HP:0011514)2.60356018
45Scanning speech (HP:0002168)2.58419719
46Status epilepticus (HP:0002133)2.56797540
47Pheochromocytoma (HP:0002666)2.55400954
48Urinary urgency (HP:0000012)2.53157308
49Impaired smooth pursuit (HP:0007772)2.52274438
50Alacrima (HP:0000522)2.52089145
51Metabolic alkalosis (HP:0200114)2.51315711
52Genetic anticipation (HP:0003743)2.50376129
53Hemiparesis (HP:0001269)2.48448507
54Abnormality of the lower motor neuron (HP:0002366)2.47629860
55Obstructive sleep apnea (HP:0002870)2.45673246
56Bradykinesia (HP:0002067)2.45653117
57Hypomagnesemia (HP:0002917)2.44924661
58Epileptiform EEG discharges (HP:0011182)2.43239247
59Postural tremor (HP:0002174)2.41749804
60Hyperactive renin-angiotensin system (HP:0000841)2.41178341
61Intention tremor (HP:0002080)2.40648929
62Hemiplegia (HP:0002301)2.39853235
63Akinesia (HP:0002304)2.36775484
64Abnormality of magnesium homeostasis (HP:0004921)2.32945287
65Termporal pattern (HP:0011008)2.32588488
66Insidious onset (HP:0003587)2.32588488
67EEG with generalized epileptiform discharges (HP:0011198)2.27791565
68Inability to walk (HP:0002540)2.26550782
69Fetal akinesia sequence (HP:0001989)2.26469799
70Dysmetric saccades (HP:0000641)2.26299180
71Absent speech (HP:0001344)2.25595655
72Abnormality of chloride homeostasis (HP:0011422)2.22572754
73Stereotypic behavior (HP:0000733)2.20558403
74Spastic gait (HP:0002064)2.20364617
75Torticollis (HP:0000473)2.20265001
76Neuroendocrine neoplasm (HP:0100634)2.19177237
77Sudden death (HP:0001699)2.17508309
78Focal dystonia (HP:0004373)2.16685880
79Abnormality of ocular smooth pursuit (HP:0000617)2.16272304
80Limb dystonia (HP:0002451)2.13766346
81Hypsarrhythmia (HP:0002521)2.13003726
82Polyphagia (HP:0002591)2.11859157
83Generalized myoclonic seizures (HP:0002123)2.08246690
84Abnormality of the corticospinal tract (HP:0002492)2.07339286
85Psychosis (HP:0000709)2.06260504
86Agitation (HP:0000713)2.05064590
87Abnormality of saccadic eye movements (HP:0000570)2.02707751
88Abnormality of vitamin metabolism (HP:0100508)2.00701636
89Megalencephaly (HP:0001355)1.98557277
90Hypokalemic alkalosis (HP:0001949)1.98265332
91Sleep apnea (HP:0010535)1.98177394
92Rapidly progressive (HP:0003678)1.98156960
93Amyotrophic lateral sclerosis (HP:0007354)1.96992667
94Syncope (HP:0001279)1.96945093
95Hypokalemia (HP:0002900)1.95550773
96Impaired vibratory sensation (HP:0002495)1.95321555
97Lower limb asymmetry (HP:0100559)1.92687071
98Hyperaldosteronism (HP:0000859)1.92322389
99Heart block (HP:0012722)1.91151453
100Gait ataxia (HP:0002066)1.91146881
101Bundle branch block (HP:0011710)1.90830155
102Lower limb muscle weakness (HP:0007340)1.90189233
103Craniofacial dystonia (HP:0012179)1.89871331
104Decreased lacrimation (HP:0000633)1.89641398
105Abnormality of vitamin B metabolism (HP:0004340)1.89331159
106Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.88450622
107Degeneration of the lateral corticospinal tracts (HP:0002314)1.88450622
108Delusions (HP:0000746)1.88323995
109Abnormality of renin-angiotensin system (HP:0000847)1.88214724
110Neuronal loss in central nervous system (HP:0002529)1.86397744
111Annular pancreas (HP:0001734)1.86108434
112Abnormality of potassium homeostasis (HP:0011042)1.85087099
113Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.84663843
114Gout (HP:0001997)1.84588652
115Abnormality of the vitamin B12 metabolism (HP:0004341)1.81966749
116Renal salt wasting (HP:0000127)1.81354870
117Incomplete penetrance (HP:0003829)1.78296783
118Rigidity (HP:0002063)1.77571391
119Abnormal atrioventricular conduction (HP:0005150)1.77050153
120Abnormality of salivation (HP:0100755)1.76985827
121Abnormal EKG (HP:0003115)1.76170646
122Hyperparathyroidism (HP:0000843)1.75238621
123Resting tremor (HP:0002322)1.71058964
124Adrenal overactivity (HP:0002717)1.70837053
125Decreased circulating renin level (HP:0003351)1.70392435

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.66749929
2EPHA44.32675687
3MAP3K93.90256705
4MAP3K43.09791238
5MINK12.73160232
6RIPK42.51264143
7MAP2K72.51038033
8MARK12.44013142
9MAP3K122.34881230
10KSR22.34687615
11DAPK22.10714126
12MAP2K42.10109674
13PAK61.98212759
14NTRK11.97181987
15PNCK1.91789779
16NTRK21.66299604
17KSR11.63857357
18CAMKK11.62853228
19ARAF1.60268553
20PLK21.51972386
21PRKD31.49977164
22GRK51.48964019
23DAPK11.48492808
24STK381.46049323
25OXSR11.45559843
26CDK51.43975184
27MAP3K21.37369933
28MAP3K131.26425010
29EPHA21.25698563
30PRKCG1.24267419
31LMTK21.24173439
32CASK1.23161093
33SIK21.21476064
34WNK41.21019970
35WNK31.17863227
36CAMKK21.09428625
37FES1.08182256
38CDK191.07951682
39CAMK2A1.07234775
40LATS21.04953986
41OBSCN1.01952393
42MST1R0.99914187
43TNIK0.98499465
44CAMK2B0.97106038
45PHKG10.97000413
46PHKG20.97000413
47NME10.96764308
48BMPR20.94954946
49PTK2B0.93665585
50MAPK130.91968969
51TYRO30.91531615
52LIMK10.91166744
53PAK30.91086366
54RAF10.90195124
55MAPK120.87774624
56PIK3CA0.85314369
57NEK60.84516751
58UHMK10.84178489
59RET0.84147830
60SGK4940.83499832
61SGK2230.83499832
62CAMK10.83332573
63TESK10.82151418
64WNK10.78776062
65PINK10.78296361
66STK110.78109913
67CDK180.77322423
68CDK140.76605235
69CDK150.76177227
70FER0.76081353
71PDK20.75539877
72TAOK10.75145681
73PRKG20.74781254
74SGK10.70832089
75STK390.70806511
76PRPF4B0.70348079
77PRKCH0.69091182
78SGK20.68449011
79MAP3K10.67978957
80CAMK2D0.64968255
81CDK11A0.64718282
82CSNK1G20.64557237
83PDPK10.63249202
84PDK10.62926176
85SGK30.61005233
86DYRK1A0.60898327
87CAMK2G0.60443370
88FGFR20.57263215
89NEK10.57223829
90MAP2K10.56702740
91MET0.56610471
92CAMK1G0.56598712
93CAMK40.56311593
94FGR0.54718660
95MAP3K70.54417526
96PRKCE0.54139441
97SCYL20.53595669
98PRKCZ0.49835040
99PDK30.49754654
100PDK40.49754654
101DMPK0.49077277
102MAP3K60.48754381
103RIPK10.48049621
104ALK0.47789604
105PRKCA0.46977106
106TNK20.46442981
107MAPKAPK50.46433004
108MARK20.45573290
109MAP3K30.44887951
110MAPKAPK30.42730596
111CDC42BPA0.42595123
112BCR0.42398130
113PRKG10.42145819
114ERBB20.41878151
115RPS6KA30.41737154
116BRAF0.41341428
117FYN0.40262493
118MAP2K60.39633224
119ROCK20.39589046
120GRK60.39393541
121CSNK1A10.38505606
122MAPK100.36552706
123FRK0.36050994
124AKT30.32525246

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.80841200
2Synaptic vesicle cycle_Homo sapiens_hsa047213.21769025
3Long-term potentiation_Homo sapiens_hsa047202.80649277
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.64893180
5GABAergic synapse_Homo sapiens_hsa047272.60255368
6Circadian entrainment_Homo sapiens_hsa047132.58149558
7Olfactory transduction_Homo sapiens_hsa047402.50755361
8Amphetamine addiction_Homo sapiens_hsa050312.48864370
9Glutamatergic synapse_Homo sapiens_hsa047242.47414688
10* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.36303349
11Morphine addiction_Homo sapiens_hsa050322.31012171
12* Salivary secretion_Homo sapiens_hsa049702.15837347
13Dopaminergic synapse_Homo sapiens_hsa047282.11522644
14* Gastric acid secretion_Homo sapiens_hsa049711.95796308
15Taste transduction_Homo sapiens_hsa047421.92021583
16Collecting duct acid secretion_Homo sapiens_hsa049661.85634842
17* Insulin secretion_Homo sapiens_hsa049111.84964773
18Long-term depression_Homo sapiens_hsa047301.74082201
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73653494
20Cholinergic synapse_Homo sapiens_hsa047251.73487636
21Renin secretion_Homo sapiens_hsa049241.72830599
22Serotonergic synapse_Homo sapiens_hsa047261.61769960
23Oxytocin signaling pathway_Homo sapiens_hsa049211.58564187
24Calcium signaling pathway_Homo sapiens_hsa040201.56718358
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.56643194
26* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55840386
27Cocaine addiction_Homo sapiens_hsa050301.49567527
28GnRH signaling pathway_Homo sapiens_hsa049121.42570186
29* Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40824300
30* Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28268270
31Gap junction_Homo sapiens_hsa045401.27411687
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23416369
33Arginine biosynthesis_Homo sapiens_hsa002201.19377993
34* cAMP signaling pathway_Homo sapiens_hsa040241.17374668
35Vibrio cholerae infection_Homo sapiens_hsa051101.14629238
36Estrogen signaling pathway_Homo sapiens_hsa049151.13903214
37* Cardiac muscle contraction_Homo sapiens_hsa042601.13522897
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.12824964
39Vitamin B6 metabolism_Homo sapiens_hsa007501.07063489
40Type II diabetes mellitus_Homo sapiens_hsa049301.06285199
41Glioma_Homo sapiens_hsa052141.02189809
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98755503
43Melanogenesis_Homo sapiens_hsa049160.97995812
44Histidine metabolism_Homo sapiens_hsa003400.97191932
45* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97027872
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.95393542
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91754122
48* Pancreatic secretion_Homo sapiens_hsa049720.91399565
49Axon guidance_Homo sapiens_hsa043600.91134891
50* Thyroid hormone synthesis_Homo sapiens_hsa049180.89514508
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.88424920
52ErbB signaling pathway_Homo sapiens_hsa040120.87471463
53Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85868564
54Alzheimers disease_Homo sapiens_hsa050100.81790390
55Dorso-ventral axis formation_Homo sapiens_hsa043200.81628700
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.81373166
57Nitrogen metabolism_Homo sapiens_hsa009100.80138979
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.76731774
59Oocyte meiosis_Homo sapiens_hsa041140.76563327
60Choline metabolism in cancer_Homo sapiens_hsa052310.75171306
61Oxidative phosphorylation_Homo sapiens_hsa001900.74096020
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.71881429
63Arginine and proline metabolism_Homo sapiens_hsa003300.70631173
64* Bile secretion_Homo sapiens_hsa049760.69848112
65Phenylalanine metabolism_Homo sapiens_hsa003600.69016119
66Dilated cardiomyopathy_Homo sapiens_hsa054140.67391002
67Glucagon signaling pathway_Homo sapiens_hsa049220.66153526
68VEGF signaling pathway_Homo sapiens_hsa043700.64326012
69Tight junction_Homo sapiens_hsa045300.61095364
70Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.60628593
71Phototransduction_Homo sapiens_hsa047440.58899061
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56574909
73Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56168912
74* Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54981451
75MAPK signaling pathway_Homo sapiens_hsa040100.53771990
76Fatty acid biosynthesis_Homo sapiens_hsa000610.53388922
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53313737
78Butanoate metabolism_Homo sapiens_hsa006500.52526661
79Inositol phosphate metabolism_Homo sapiens_hsa005620.52453627
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51826800
81* Protein digestion and absorption_Homo sapiens_hsa049740.51658218
82Parkinsons disease_Homo sapiens_hsa050120.51020341
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48976553
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.47874461
85Rap1 signaling pathway_Homo sapiens_hsa040150.45846147
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45122233
87Ras signaling pathway_Homo sapiens_hsa040140.43836589
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.43298786
89* Mineral absorption_Homo sapiens_hsa049780.41161243
90Type I diabetes mellitus_Homo sapiens_hsa049400.40790531
91Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40740342
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.39975548
93beta-Alanine metabolism_Homo sapiens_hsa004100.39275497
94mTOR signaling pathway_Homo sapiens_hsa041500.38602634
95Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38475818
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38471609
97Sphingolipid metabolism_Homo sapiens_hsa006000.38366605
98African trypanosomiasis_Homo sapiens_hsa051430.37964374
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36691192
100Starch and sucrose metabolism_Homo sapiens_hsa005000.36544507
101Renin-angiotensin system_Homo sapiens_hsa046140.36027664
102Insulin signaling pathway_Homo sapiens_hsa049100.35844630
103Ether lipid metabolism_Homo sapiens_hsa005650.35840994
104* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.35111404
105Fructose and mannose metabolism_Homo sapiens_hsa000510.35051055
106Endocytosis_Homo sapiens_hsa041440.33653998
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33451952
108Maturity onset diabetes of the young_Homo sapiens_hsa049500.32383347
109AMPK signaling pathway_Homo sapiens_hsa041520.32343557
110PPAR signaling pathway_Homo sapiens_hsa033200.32248777
111Alcoholism_Homo sapiens_hsa050340.31823401
112Prion diseases_Homo sapiens_hsa050200.31537262
113Circadian rhythm_Homo sapiens_hsa047100.30826036
114Non-small cell lung cancer_Homo sapiens_hsa052230.30100059
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30043626
116Endometrial cancer_Homo sapiens_hsa052130.29734917
117Huntingtons disease_Homo sapiens_hsa050160.29321437
118Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28505489
119Wnt signaling pathway_Homo sapiens_hsa043100.27890581
120Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27364974
121Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26333564

Most similar genes based on co-expression Upload to Enrichr

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