ATP2B2

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 primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.08720623
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.06208590
3vocalization behavior (GO:0071625)5.87896303
4synaptic vesicle docking involved in exocytosis (GO:0016081)5.86441122
5synaptic vesicle exocytosis (GO:0016079)5.72755825
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.66764441
7glutamate secretion (GO:0014047)5.65263476
8locomotory exploration behavior (GO:0035641)5.54358435
9synaptic vesicle maturation (GO:0016188)5.45816783
10neuronal action potential propagation (GO:0019227)5.36300590
11regulation of synaptic vesicle exocytosis (GO:2000300)5.23229014
12regulation of glutamate receptor signaling pathway (GO:1900449)5.11867880
13neurotransmitter-gated ion channel clustering (GO:0072578)5.08078162
14ionotropic glutamate receptor signaling pathway (GO:0035235)5.05857796
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.05831020
16protein localization to synapse (GO:0035418)5.04614372
17L-amino acid import (GO:0043092)4.82468620
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.76573915
19neuron cell-cell adhesion (GO:0007158)4.76412716
20neurotransmitter secretion (GO:0007269)4.74999605
21synaptic transmission, glutamatergic (GO:0035249)4.70325713
22glutamate receptor signaling pathway (GO:0007215)4.67723569
23regulation of synaptic vesicle transport (GO:1902803)4.61570050
24neuron-neuron synaptic transmission (GO:0007270)4.58743005
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.42238400
26amino acid import (GO:0043090)4.36503142
27potassium ion homeostasis (GO:0055075)4.34985343
28regulation of excitatory postsynaptic membrane potential (GO:0060079)4.28095191
29regulation of neuronal synaptic plasticity (GO:0048168)4.27991269
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.25674238
31cellular sodium ion homeostasis (GO:0006883)4.23052150
32potassium ion import (GO:0010107)4.22624880
33gamma-aminobutyric acid transport (GO:0015812)4.19701688
34positive regulation of synapse maturation (GO:0090129)4.18314756
35exploration behavior (GO:0035640)4.17299414
36positive regulation of membrane potential (GO:0045838)4.11705865
37presynaptic membrane assembly (GO:0097105)4.08797884
38regulation of postsynaptic membrane potential (GO:0060078)4.08145218
39gamma-aminobutyric acid signaling pathway (GO:0007214)4.06809540
40regulation of synapse structural plasticity (GO:0051823)4.03519723
41cell communication by electrical coupling (GO:0010644)4.02870384
42negative regulation of synaptic transmission, GABAergic (GO:0032229)4.02509388
43positive regulation of dendritic spine development (GO:0060999)4.00253176
44regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.00009451
45G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.98328034
46long-term memory (GO:0007616)3.93989740
47postsynaptic membrane organization (GO:0001941)3.92798873
48presynaptic membrane organization (GO:0097090)3.90905156
49long-term synaptic potentiation (GO:0060291)3.88669060
50positive regulation of dendritic spine morphogenesis (GO:0061003)3.87312557
51regulation of synaptic transmission, glutamatergic (GO:0051966)3.84095978
52cellular potassium ion homeostasis (GO:0030007)3.80140096
53neuronal ion channel clustering (GO:0045161)3.79125495
54neurotransmitter transport (GO:0006836)3.73871250
55central nervous system myelination (GO:0022010)3.73449716
56axon ensheathment in central nervous system (GO:0032291)3.73449716
57regulation of ARF protein signal transduction (GO:0032012)3.72293322
58* regulation of synaptic plasticity (GO:0048167)3.70137642
59regulation of neurotransmitter secretion (GO:0046928)3.67046033
60auditory behavior (GO:0031223)3.65896343
61positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.64572571
62response to histamine (GO:0034776)3.62545549
63positive regulation of neurotransmitter secretion (GO:0001956)3.59790097
64regulation of neurotransmitter levels (GO:0001505)3.51597322
65positive regulation of neurotransmitter transport (GO:0051590)3.50186573
66membrane depolarization (GO:0051899)3.48944151
67regulation of dendritic spine morphogenesis (GO:0061001)3.48065418
68layer formation in cerebral cortex (GO:0021819)3.47351954
69negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.45960817
70transmission of nerve impulse (GO:0019226)3.44953516
71dendritic spine morphogenesis (GO:0060997)3.44655158
72mechanosensory behavior (GO:0007638)3.43073679
73membrane depolarization during action potential (GO:0086010)3.41200739
74neuromuscular process controlling posture (GO:0050884)3.39811059
75regulation of neurotransmitter transport (GO:0051588)3.39563778
76acidic amino acid transport (GO:0015800)3.39285594
77activation of protein kinase A activity (GO:0034199)3.37935636
78behavioral response to cocaine (GO:0048148)3.36950953
79proline transport (GO:0015824)3.36935809
80membrane hyperpolarization (GO:0060081)3.36774042
81positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.32668341
82neuromuscular synaptic transmission (GO:0007274)3.31926224
83synaptic vesicle endocytosis (GO:0048488)3.30880037
84regulation of voltage-gated calcium channel activity (GO:1901385)3.30586276
85regulation of synapse maturation (GO:0090128)3.30477523
86neurotransmitter uptake (GO:0001504)3.29936596
87response to auditory stimulus (GO:0010996)3.29210705
88cerebellar Purkinje cell layer development (GO:0021680)3.28925737
89neuron recognition (GO:0008038)3.27667925
90regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.24090122
91positive regulation of synaptic transmission (GO:0050806)3.23324363
92cell communication involved in cardiac conduction (GO:0086065)3.23117591
93positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.22686968
94regulation of vesicle fusion (GO:0031338)3.21792358
95* cerebellar Purkinje cell differentiation (GO:0021702)3.19405300
96behavioral fear response (GO:0001662)3.17795778
97behavioral defense response (GO:0002209)3.17795778
98learning (GO:0007612)3.17439638
99synaptic transmission (GO:0007268)3.17125171
100long term synaptic depression (GO:0060292)3.16985364
101cytoskeletal anchoring at plasma membrane (GO:0007016)3.15972850
102prepulse inhibition (GO:0060134)3.14892413
103* cerebellar granule cell differentiation (GO:0021707)3.14825101
104* neuromuscular process controlling balance (GO:0050885)3.14589940
105sodium ion export (GO:0071436)3.13296248
106detection of calcium ion (GO:0005513)3.12276802
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.12004652
108positive regulation of synaptic transmission, GABAergic (GO:0032230)3.11459980
109chemosensory behavior (GO:0007635)3.10812298
110negative regulation of dendrite morphogenesis (GO:0050774)3.10739281
111synapse assembly (GO:0007416)3.10162453
112* regulation of synaptic transmission (GO:0050804)3.10058609
113startle response (GO:0001964)3.08781827
114vesicle docking involved in exocytosis (GO:0006904)3.08318217
115regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.08294946
116regulation of glutamate secretion (GO:0014048)3.07889700
117fear response (GO:0042596)3.07539979
118regulation of dendritic spine development (GO:0060998)3.07209781
119establishment of synaptic vesicle localization (GO:0097480)3.06610126
120synaptic vesicle transport (GO:0048489)3.06610126
121dendritic spine organization (GO:0097061)3.05535533
122G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.05281529
123cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.03256651
124adult walking behavior (GO:0007628)3.01189901
125axonal fasciculation (GO:0007413)3.01078913
126striatum development (GO:0021756)2.99123161
127L-glutamate transport (GO:0015813)2.96615866
128regulation of cell communication by electrical coupling (GO:0010649)2.96174899

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.85952201
2GBX2_23144817_ChIP-Seq_PC3_Human4.15504937
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.19409759
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17093963
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05364137
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.75804880
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70774323
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70774323
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.69009265
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62337979
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59475994
12DROSHA_22980978_ChIP-Seq_HELA_Human2.52512513
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49801848
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49016806
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47245647
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47085347
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.41854198
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.36212335
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.28706379
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.25985244
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.16424722
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.14906290
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.13673812
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.12292540
25TAF15_26573619_Chip-Seq_HEK293_Human2.11627812
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.05867800
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05854062
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.04650255
29CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01394357
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.94192604
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.87627050
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.85323494
33AR_21572438_ChIP-Seq_LNCaP_Human1.80933073
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.78504108
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78161360
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67129240
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.65593496
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.54467859
39P300_19829295_ChIP-Seq_ESCs_Human1.52109975
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.48810628
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.48106995
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47039240
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46517480
44KDM2B_26808549_Chip-Seq_K562_Human1.46498384
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43619960
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41554821
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.40831945
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.36994353
49AR_25329375_ChIP-Seq_VCAP_Human1.34150926
50* STAT3_23295773_ChIP-Seq_U87_Human1.30178626
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29922223
52PIAS1_25552417_ChIP-Seq_VCAP_Human1.29227773
53PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28534135
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26992702
55ZNF274_21170338_ChIP-Seq_K562_Hela1.23408965
56BMI1_23680149_ChIP-Seq_NPCS_Mouse1.23088352
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22711579
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22565255
59TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22128285
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.22066849
61* AR_19668381_ChIP-Seq_PC3_Human1.22048050
62* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21923005
63CBX2_27304074_Chip-Seq_ESCs_Mouse1.20019761
64TET1_21490601_ChIP-Seq_MESCs_Mouse1.18867657
65RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18628115
66WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18390337
67* TCF4_23295773_ChIP-Seq_U87_Human1.18334370
68RING1B_27294783_Chip-Seq_ESCs_Mouse1.17035347
69ZFP281_27345836_Chip-Seq_ESCs_Mouse1.16743765
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16347333
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.15936646
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15497993
73DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14999161
74SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13222154
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11091324
76ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.09505137
77AHR_22903824_ChIP-Seq_MCF-7_Human1.09100200
78RNF2_27304074_Chip-Seq_NSC_Mouse1.09017413
79AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.08644449
80* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07391978
81CTCF_27219007_Chip-Seq_Bcells_Human1.06826320
82* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05375808
83FUS_26573619_Chip-Seq_HEK293_Human1.04350359
84CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03916056
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03537578
86* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02516010
87RUNX2_22187159_ChIP-Seq_PCA_Human1.01685586
88TP53_16413492_ChIP-PET_HCT116_Human1.01257748
89* PRDM14_20953172_ChIP-Seq_ESCs_Human0.98917808
90RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98911308
91ESR2_21235772_ChIP-Seq_MCF-7_Human0.98890393
92GATA1_26923725_Chip-Seq_HPCs_Mouse0.97944414
93UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97577825
94RING1B_27294783_Chip-Seq_NPCs_Mouse0.97428825
95RXR_22108803_ChIP-Seq_LS180_Human0.96963137
96TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96875450
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.95504401
98GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94492078
99OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94378462
100* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93829213
101TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.92956138
102NANOG_18555785_Chip-Seq_ESCs_Mouse0.92823079
103VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92303034
104NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91285527
105CDX2_19796622_ChIP-Seq_MESCs_Mouse0.90982219
106ER_23166858_ChIP-Seq_MCF-7_Human0.90744720
107TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90667403
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90667403
109DPY_21335234_ChIP-Seq_ESCs_Mouse0.90245382
110PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89744466
111CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.89710184
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.89567735
113TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89249190
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.87153913
115CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86689108
116JUN_21703547_ChIP-Seq_K562_Human0.86627483
117IGF1R_20145208_ChIP-Seq_DFB_Human0.86152141
118BCAT_22108803_ChIP-Seq_LS180_Human0.86098420
119EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85920753
120PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85196821
121OCT4_19829295_ChIP-Seq_ESCs_Human0.81985312
122BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81581977
123* LXR_22292898_ChIP-Seq_THP-1_Human0.80758606
124KDM2B_26808549_Chip-Seq_SUP-B15_Human0.80023896
125* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79454041
126TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.78382119
127ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.78256443
128KLF4_19829295_ChIP-Seq_ESCs_Human0.74957821
129* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74718281
130TP53_20018659_ChIP-ChIP_R1E_Mouse0.73906324
131RUNX1_26923725_Chip-Seq_HPCs_Mouse0.73828986
132SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.73362145
133ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.71507516

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.48630857
2MP0003880_abnormal_central_pattern5.24974635
3* MP0003635_abnormal_synaptic_transmissio4.31835431
4MP0009046_muscle_twitch3.80883275
5MP0009745_abnormal_behavioral_response3.73509603
6MP0004270_analgesia3.70586202
7MP0002063_abnormal_learning/memory/cond3.46423922
8MP0002064_seizures3.45214121
9MP0001968_abnormal_touch/_nociception3.24729328
10MP0002822_catalepsy3.19208656
11MP0002572_abnormal_emotion/affect_behav3.01382228
12* MP0002272_abnormal_nervous_system2.79086388
13MP0002734_abnormal_mechanical_nocicepti2.66891761
14MP0002736_abnormal_nociception_after2.60115440
15* MP0001486_abnormal_startle_reflex2.50671658
16MP0001501_abnormal_sleep_pattern2.48879078
17MP0005423_abnormal_somatic_nervous2.39968363
18MP0002735_abnormal_chemical_nociception2.28887516
19MP0001440_abnormal_grooming_behavior2.25278248
20* MP0002067_abnormal_sensory_capabilities2.17103124
21MP0008569_lethality_at_weaning2.16964661
22MP0009780_abnormal_chondrocyte_physiolo2.09503132
23MP0001970_abnormal_pain_threshold1.94372974
24MP0002733_abnormal_thermal_nociception1.94121972
25MP0005646_abnormal_pituitary_gland1.84627654
26MP0004924_abnormal_behavior1.83400373
27MP0005386_behavior/neurological_phenoty1.83400373
28MP0002557_abnormal_social/conspecific_i1.78377162
29MP0004811_abnormal_neuron_physiology1.67853632
30* MP0002184_abnormal_innervation1.66708074
31MP0003329_amyloid_beta_deposits1.63308389
32MP0001984_abnormal_olfaction1.61676281
33MP0002909_abnormal_adrenal_gland1.60286785
34MP0000778_abnormal_nervous_system1.54226607
35MP0003787_abnormal_imprinting1.52194357
36MP0003633_abnormal_nervous_system1.47178050
37MP0004858_abnormal_nervous_system1.46791669
38MP0000955_abnormal_spinal_cord1.45834753
39* MP0002066_abnormal_motor_capabilities/c1.44342738
40MP0003123_paternal_imprinting1.42775609
41MP0004142_abnormal_muscle_tone1.40848441
42* MP0003879_abnormal_hair_cell1.38514761
43MP0001529_abnormal_vocalization1.35956301
44MP0001188_hyperpigmentation1.33975392
45* MP0002882_abnormal_neuron_morphology1.32231683
46MP0006276_abnormal_autonomic_nervous1.30192479
47MP0001502_abnormal_circadian_rhythm1.28492158
48MP0004885_abnormal_endolymph1.24749932
49MP0003631_nervous_system_phenotype1.23044308
50MP0004145_abnormal_muscle_electrophysio1.21635064
51MP0008872_abnormal_physiological_respon1.19282280
52MP0004147_increased_porphyrin_level1.17369205
53MP0001905_abnormal_dopamine_level1.12069956
54MP0005645_abnormal_hypothalamus_physiol1.04484945
55MP0003122_maternal_imprinting1.03338613
56MP0008874_decreased_physiological_sensi1.02796669
57* MP0002152_abnormal_brain_morphology1.02038223
58MP0000013_abnormal_adipose_tissue1.01171699
59MP0002638_abnormal_pupillary_reflex0.98024749
60MP0000751_myopathy0.97446658
61MP0002069_abnormal_eating/drinking_beha0.93514690
62* MP0002229_neurodegeneration0.89707297
63MP0004085_abnormal_heartbeat0.89258739
64MP0001348_abnormal_lacrimal_gland0.89078674
65MP0000569_abnormal_digit_pigmentation0.87031119
66MP0005551_abnormal_eye_electrophysiolog0.86119900
67MP0001346_abnormal_lacrimal_gland0.84767168
68MP0010386_abnormal_urinary_bladder0.84439322
69MP0004215_abnormal_myocardial_fiber0.84165414
70MP0001177_atelectasis0.83920640
71MP0003632_abnormal_nervous_system0.83502035
72MP0002876_abnormal_thyroid_physiology0.83118437
73MP0002837_dystrophic_cardiac_calcinosis0.82946982
74MP0005535_abnormal_body_temperature0.81390371
75* MP0001963_abnormal_hearing_physiology0.77527254
76MP0005167_abnormal_blood-brain_barrier0.77444206
77MP0003690_abnormal_glial_cell0.75331216
78MP0004130_abnormal_muscle_cell0.74753408
79MP0001986_abnormal_taste_sensitivity0.72997415
80MP0004484_altered_response_of0.72826467
81MP0003075_altered_response_to0.72173311
82MP0004043_abnormal_pH_regulation0.71678640
83MP0005623_abnormal_meninges_morphology0.69816853
84MP0000604_amyloidosis0.68982062
85MP0000920_abnormal_myelination0.68236255
86MP0003183_abnormal_peptide_metabolism0.66168812
87MP0005171_absent_coat_pigmentation0.65679792
88MP0000631_abnormal_neuroendocrine_gland0.65645441
89MP0001664_abnormal_digestion0.65364043
90MP0003634_abnormal_glial_cell0.64919565
91MP0008961_abnormal_basal_metabolism0.64770460
92MP0005499_abnormal_olfactory_system0.64272205
93MP0005394_taste/olfaction_phenotype0.64272205
94* MP0002752_abnormal_somatic_nervous0.62594626
95* MP0004742_abnormal_vestibular_system0.58648320
96MP0003137_abnormal_impulse_conducting0.57374326
97MP0003283_abnormal_digestive_organ0.57203705
98MP0001943_abnormal_respiration0.57141173
99MP0010769_abnormal_survival0.56685100
100MP0004233_abnormal_muscle_weight0.56317328
101MP0005409_darkened_coat_color0.56127644
102MP0010770_preweaning_lethality0.55835532
103MP0002082_postnatal_lethality0.55835532
104MP0004510_myositis0.55605317
105MP0002090_abnormal_vision0.54689151
106MP0010768_mortality/aging0.53656846
107MP0000579_abnormal_nail_morphology0.52915524
108* MP0003956_abnormal_body_size0.50538134
109MP0005166_decreased_susceptibility_to0.50058381
110MP0002653_abnormal_ependyma_morphology0.48946969
111MP0008877_abnormal_DNA_methylation0.48339586
112MP0000747_muscle_weakness0.45406368
113MP0001299_abnormal_eye_distance/0.44949907
114MP0003172_abnormal_lysosome_physiology0.43947506
115MP0003045_fibrosis0.43691439

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.18415932
2Myokymia (HP:0002411)6.62505847
3Focal seizures (HP:0007359)6.35713610
4Epileptic encephalopathy (HP:0200134)5.99485691
5Atonic seizures (HP:0010819)5.75582920
6Febrile seizures (HP:0002373)5.41946839
7Visual hallucinations (HP:0002367)4.99247855
8Progressive cerebellar ataxia (HP:0002073)4.76774597
9Absence seizures (HP:0002121)4.75624574
10Hyperventilation (HP:0002883)4.56714513
11Gaze-evoked nystagmus (HP:0000640)4.43574903
12Dialeptic seizures (HP:0011146)4.38090487
13Broad-based gait (HP:0002136)4.29163866
14Action tremor (HP:0002345)4.20224457
15Generalized tonic-clonic seizures (HP:0002069)4.14248568
16Poor eye contact (HP:0000817)3.86991430
17Neurofibrillary tangles (HP:0002185)3.84681833
18Dysdiadochokinesis (HP:0002075)3.66756160
19Dysmetric saccades (HP:0000641)3.60658958
20Impaired social interactions (HP:0000735)3.45677501
21Abnormal social behavior (HP:0012433)3.45677501
22Tetraplegia (HP:0002445)3.42087480
23Impaired vibration sensation in the lower limbs (HP:0002166)3.39076247
24Obstructive sleep apnea (HP:0002870)3.37040721
25Truncal ataxia (HP:0002078)3.35455710
26Impaired smooth pursuit (HP:0007772)3.33768921
27Scanning speech (HP:0002168)3.30843691
28Dysmetria (HP:0001310)3.20733043
29Cerebral hypomyelination (HP:0006808)3.17364581
30Amblyopia (HP:0000646)3.13215582
31Depression (HP:0000716)3.09368970
32Abnormal eating behavior (HP:0100738)3.08501614
33Urinary bladder sphincter dysfunction (HP:0002839)3.00692143
34Genetic anticipation (HP:0003743)2.93358344
35Anxiety (HP:0000739)2.92962022
36Abnormality of the lower motor neuron (HP:0002366)2.92477178
37Ankle clonus (HP:0011448)2.89085293
38Abnormality of ocular smooth pursuit (HP:0000617)2.87185328
39Epileptiform EEG discharges (HP:0011182)2.80889136
40Status epilepticus (HP:0002133)2.76384791
41Postural instability (HP:0002172)2.75826466
42Excessive salivation (HP:0003781)2.73135701
43Drooling (HP:0002307)2.73135701
44Akinesia (HP:0002304)2.70567267
45Hemiplegia (HP:0002301)2.69048979
46Supranuclear gaze palsy (HP:0000605)2.68718185
47Delusions (HP:0000746)2.66499596
48Stereotypic behavior (HP:0000733)2.64969496
49Hemiparesis (HP:0001269)2.57469775
50Diplopia (HP:0000651)2.54210465
51Abnormality of binocular vision (HP:0011514)2.54210465
52Impaired vibratory sensation (HP:0002495)2.53633065
53EEG with generalized epileptiform discharges (HP:0011198)2.52809697
54Annular pancreas (HP:0001734)2.49951786
55Torticollis (HP:0000473)2.47498364
56Urinary urgency (HP:0000012)2.43417304
57Fetal akinesia sequence (HP:0001989)2.43182472
58Sleep apnea (HP:0010535)2.42277383
59Bradykinesia (HP:0002067)2.42086625
60Intention tremor (HP:0002080)2.40703030
61Absent speech (HP:0001344)2.39381957
62Protruding tongue (HP:0010808)2.37466114
63Spastic gait (HP:0002064)2.36598898
64Inability to walk (HP:0002540)2.36013426
65Focal dystonia (HP:0004373)2.35507771
66Hypsarrhythmia (HP:0002521)2.34906558
67Pheochromocytoma (HP:0002666)2.31460253
68Resting tremor (HP:0002322)2.29836075
69Progressive inability to walk (HP:0002505)2.29758768
70Apathy (HP:0000741)2.23974632
71Mutism (HP:0002300)2.22359943
72Degeneration of the lateral corticospinal tracts (HP:0002314)2.20088858
73Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.20088858
74Bundle branch block (HP:0011710)2.19780140
75Termporal pattern (HP:0011008)2.19522485
76Insidious onset (HP:0003587)2.19522485
77Spastic tetraparesis (HP:0001285)2.18897844
78Blue irides (HP:0000635)2.18515091
79Gait ataxia (HP:0002066)2.16000869
80Abnormality of saccadic eye movements (HP:0000570)2.14461368
81Incomplete penetrance (HP:0003829)2.14147409
82Peripheral hypomyelination (HP:0007182)2.13812940
83Generalized myoclonic seizures (HP:0002123)2.11746300
84Insomnia (HP:0100785)2.11325298
85Morphological abnormality of the pyramidal tract (HP:0002062)2.10202607
86Craniofacial dystonia (HP:0012179)2.08366491
87Choreoathetosis (HP:0001266)2.05821922
88Polyphagia (HP:0002591)2.04898850
89Rapidly progressive (HP:0003678)2.02285399
90Neuroendocrine neoplasm (HP:0100634)2.02198335
91Ventricular fibrillation (HP:0001663)2.02005932
92Abnormality of the corticospinal tract (HP:0002492)2.00616873
93Diminished motivation (HP:0000745)1.98354590
94Papilledema (HP:0001085)1.97875252
95CNS hypomyelination (HP:0003429)1.97720647
96Heart block (HP:0012722)1.92212585
97Lower limb muscle weakness (HP:0007340)1.89356013
98Limb ataxia (HP:0002070)1.89060467
99Memory impairment (HP:0002354)1.86735980
100Postural tremor (HP:0002174)1.85442086
101Pointed chin (HP:0000307)1.82478451
102Hypoventilation (HP:0002791)1.80524842
103Limb dystonia (HP:0002451)1.80188388
104Abnormality of salivation (HP:0100755)1.79595990
105Specific learning disability (HP:0001328)1.79389824
106Lower limb asymmetry (HP:0100559)1.76533406
107Gait imbalance (HP:0002141)1.76435458
108Aplasia involving bones of the upper limbs (HP:0009823)1.75458026
109Aplasia of the phalanges of the hand (HP:0009802)1.75458026
110Aplasia involving bones of the extremities (HP:0009825)1.75458026
111Slow progression (HP:0003677)1.75210259
112Psychosis (HP:0000709)1.75165461
113Spinal canal stenosis (HP:0003416)1.75068017
114Abnormal atrioventricular conduction (HP:0005150)1.73283947
115Abnormal hair whorl (HP:0010721)1.71925722
116Increased circulating renin level (HP:0000848)1.71316564
117Lower limb amyotrophy (HP:0007210)1.71115746
118Neuronal loss in central nervous system (HP:0002529)1.69901134
119Failure to thrive in infancy (HP:0001531)1.69328265
120Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.69005232
121Agitation (HP:0000713)1.68801618
122Generalized hypopigmentation of hair (HP:0011358)1.68126393
123Megalencephaly (HP:0001355)1.67417810
124Rigidity (HP:0002063)1.67261623
125Abnormality of the periventricular white matter (HP:0002518)1.66508124
126Cerebral inclusion bodies (HP:0100314)1.65647612
127Clonus (HP:0002169)1.64957510

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.63843453
2NTRK34.40755633
3CASK3.86885901
4MAP3K93.31771806
5DAPK23.16248705
6MAP3K43.03427379
7MAP2K72.72696818
8CDK192.42649387
9MINK12.36778381
10MAP3K122.34451307
11DAPK12.19392922
12RIPK42.11063224
13CAMKK22.02012226
14CAMKK11.96210793
15MAP2K41.95287376
16MARK11.93770482
17PAK61.91911960
18NTRK21.83219958
19PRPF4B1.80352406
20PLK21.74434000
21KSR21.66702296
22KSR11.54008290
23CCNB11.53281672
24CDK51.44022617
25TNIK1.42209294
26NTRK11.40032761
27PRKD31.37667196
28AKT31.34251010
29OXSR11.29600276
30ARAF1.25713996
31PRKCG1.25612997
32GRK51.24242702
33MAPK131.19130332
34STK381.17929472
35SGK21.15923298
36SIK31.13696734
37SGK2231.12522219
38SGK4941.12522219
39SIK21.09413002
40FES1.01439314
41CAMK2A1.01350794
42MAP3K131.00261144
43PNCK0.97992460
44CAMK10.94936601
45BMPR20.93640290
46CDK180.92192149
47SGK30.89946246
48CAMK2B0.89729588
49MAP3K20.88593364
50TAOK10.87129422
51BRSK10.86757051
52CDK150.86342837
53STK110.85758521
54PTK2B0.84923673
55CDK140.78757800
56UHMK10.78439700
57TYRO30.78168930
58SGK10.76774505
59PRKCH0.76013718
60CDK11A0.74393601
61RAF10.68841471
62PDK10.65605523
63PINK10.63991377
64PDPK10.63777716
65RET0.61555595
66WNK10.60834348
67PKN10.60802149
68MAP3K110.60338602
69TNK20.59919694
70DAPK30.59624432
71CAMK40.59416002
72BRAF0.58447194
73PRKCE0.52202321
74MARK20.51928754
75DYRK1A0.50953561
76LIMK10.50258334
77PHKG20.50046964
78PHKG10.50046964
79NEK60.49864173
80CAMK2G0.48476995
81RPS6KA30.48155365
82MAP3K10.47093771
83RIPK10.46961992
84CAMK2D0.45684774
85CDC42BPA0.45327865
86FGFR20.44599504
87ROCK20.43546553
88BCR0.41499776
89CAMK1G0.40591840
90MAPK120.40130509
91ALK0.39425879
92CSNK1G20.39363091
93MAPK70.39056266
94MAP2K10.38849462
95LMTK20.37752952
96NEK10.37639739
97FYN0.37071262
98PRKCZ0.36065856
99LATS20.36007098
100PAK30.35620002
101NME10.35580732
102PDK30.35491078
103PDK40.35491078
104PRKG10.34992992
105* PRKCA0.34868212
106MAPK100.32564807
107PRKCB0.32444867
108MAP3K70.31509342
109ERBB20.26836869
110CSNK1D0.26243909
111PRKACA0.25769268
112TESK10.25492353
113PRKG20.25144825
114MAP2K60.24725282
115ROCK10.24048641
116MAPKAPK50.23974142

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.17463389
2Synaptic vesicle cycle_Homo sapiens_hsa047213.66378041
3Long-term potentiation_Homo sapiens_hsa047202.87813106
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.86791637
5Circadian entrainment_Homo sapiens_hsa047132.81967237
6Olfactory transduction_Homo sapiens_hsa047402.75417496
7GABAergic synapse_Homo sapiens_hsa047272.72628794
8Glutamatergic synapse_Homo sapiens_hsa047242.72413796
9Morphine addiction_Homo sapiens_hsa050322.66339506
10Amphetamine addiction_Homo sapiens_hsa050312.65464874
11Dopaminergic synapse_Homo sapiens_hsa047282.17113452
12* Salivary secretion_Homo sapiens_hsa049702.13625386
13Insulin secretion_Homo sapiens_hsa049112.05470451
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.01343941
15Taste transduction_Homo sapiens_hsa047421.97017226
16Collecting duct acid secretion_Homo sapiens_hsa049661.95558461
17Gastric acid secretion_Homo sapiens_hsa049711.87107715
18Cholinergic synapse_Homo sapiens_hsa047251.84749312
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83474103
20Long-term depression_Homo sapiens_hsa047301.82889130
21Renin secretion_Homo sapiens_hsa049241.75310111
22Oxytocin signaling pathway_Homo sapiens_hsa049211.67701034
23Cocaine addiction_Homo sapiens_hsa050301.66026229
24Serotonergic synapse_Homo sapiens_hsa047261.64779973
25* Calcium signaling pathway_Homo sapiens_hsa040201.63292501
26* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.52721353
27Vitamin B6 metabolism_Homo sapiens_hsa007501.37606683
28GnRH signaling pathway_Homo sapiens_hsa049121.34141198
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28679977
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28444199
31Gap junction_Homo sapiens_hsa045401.27322461
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26010056
33* cAMP signaling pathway_Homo sapiens_hsa040241.24968985
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22845675
35Type II diabetes mellitus_Homo sapiens_hsa049301.17633655
36Vibrio cholerae infection_Homo sapiens_hsa051101.16274907
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.16117889
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13446193
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07023629
40Estrogen signaling pathway_Homo sapiens_hsa049151.05253561
41* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98184682
42Cardiac muscle contraction_Homo sapiens_hsa042600.97346186
43Glioma_Homo sapiens_hsa052140.97242941
44ErbB signaling pathway_Homo sapiens_hsa040120.94970067
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.93687626
46Axon guidance_Homo sapiens_hsa043600.91299029
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.91029147
48Melanogenesis_Homo sapiens_hsa049160.90149109
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85538907
50Prion diseases_Homo sapiens_hsa050200.81167492
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80691964
52Phototransduction_Homo sapiens_hsa047440.79065381
53Oocyte meiosis_Homo sapiens_hsa041140.78328799
54* Pancreatic secretion_Homo sapiens_hsa049720.76995638
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.74245496
56Thyroid hormone synthesis_Homo sapiens_hsa049180.73909987
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.72129368
58MAPK signaling pathway_Homo sapiens_hsa040100.70130448
59Dilated cardiomyopathy_Homo sapiens_hsa054140.70101426
60Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69537706
61Arginine biosynthesis_Homo sapiens_hsa002200.69454568
62Circadian rhythm_Homo sapiens_hsa047100.64388153
63Dorso-ventral axis formation_Homo sapiens_hsa043200.64233043
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58965797
65Nitrogen metabolism_Homo sapiens_hsa009100.58833358
66Inositol phosphate metabolism_Homo sapiens_hsa005620.58516550
67Choline metabolism in cancer_Homo sapiens_hsa052310.57222095
68Glucagon signaling pathway_Homo sapiens_hsa049220.56935104
69Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54675647
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.51805883
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51196490
72Type I diabetes mellitus_Homo sapiens_hsa049400.50511286
73Ras signaling pathway_Homo sapiens_hsa040140.50249911
74Rap1 signaling pathway_Homo sapiens_hsa040150.49049974
75Alzheimers disease_Homo sapiens_hsa050100.48721568
76Arginine and proline metabolism_Homo sapiens_hsa003300.47985605
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44497458
78Alcoholism_Homo sapiens_hsa050340.44439642
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44180606
80Bile secretion_Homo sapiens_hsa049760.44119271
81VEGF signaling pathway_Homo sapiens_hsa043700.44067269
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43289998
83Fatty acid biosynthesis_Homo sapiens_hsa000610.40990643
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40858303
85mTOR signaling pathway_Homo sapiens_hsa041500.40312861
86Histidine metabolism_Homo sapiens_hsa003400.39612903
87Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.39170056
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39055263
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38143309
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37508662
91African trypanosomiasis_Homo sapiens_hsa051430.36400782
92Rheumatoid arthritis_Homo sapiens_hsa053230.35867335
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.35675109
94Mineral absorption_Homo sapiens_hsa049780.35308467
95Oxidative phosphorylation_Homo sapiens_hsa001900.35059484
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35001543
97Endocytosis_Homo sapiens_hsa041440.32928782
98Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31278306
99Non-small cell lung cancer_Homo sapiens_hsa052230.31149461
100Insulin signaling pathway_Homo sapiens_hsa049100.30877314
101Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.30464324
102Wnt signaling pathway_Homo sapiens_hsa043100.29603261
103Ovarian steroidogenesis_Homo sapiens_hsa049130.29141276
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28669670
105Chemokine signaling pathway_Homo sapiens_hsa040620.27109345
106Endometrial cancer_Homo sapiens_hsa052130.26249070
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.25797760
108Renal cell carcinoma_Homo sapiens_hsa052110.24659272
109AMPK signaling pathway_Homo sapiens_hsa041520.22124969
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.20498954
111beta-Alanine metabolism_Homo sapiens_hsa004100.20461944
112HIF-1 signaling pathway_Homo sapiens_hsa040660.18106367
113Tight junction_Homo sapiens_hsa045300.17879607

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