RCAN2

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: This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)4.67969187
2synaptic vesicle maturation (GO:0016188)4.63423516
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.58990137
4membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.56461560
5glutamate secretion (GO:0014047)4.27080039
6vocalization behavior (GO:0071625)4.26456998
7neuronal action potential propagation (GO:0019227)4.25207021
8regulation of synaptic vesicle exocytosis (GO:2000300)4.16774733
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.01302124
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.90015441
11positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.89471867
12neurotransmitter secretion (GO:0007269)3.88658242
13synaptic vesicle docking involved in exocytosis (GO:0016081)3.85524914
14regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.83397948
15locomotory exploration behavior (GO:0035641)3.82599959
16cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.79790090
17regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.79783003
18regulation of synapse structural plasticity (GO:0051823)3.79607889
19positive regulation of synapse maturation (GO:0090129)3.75479885
20gamma-aminobutyric acid transport (GO:0015812)3.75066923
21regulation of synaptic vesicle transport (GO:1902803)3.74543055
22regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.70038775
23regulation of glutamate receptor signaling pathway (GO:1900449)3.65524776
24neuron cell-cell adhesion (GO:0007158)3.62856654
25regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.61209045
26regulation of actin filament-based movement (GO:1903115)3.58207821
27positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.54711615
28dendritic spine morphogenesis (GO:0060997)3.51489667
29cerebellar granule cell differentiation (GO:0021707)3.50539675
30regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.49593262
31neuromuscular process controlling posture (GO:0050884)3.45225565
32positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.44855510
33cell communication by electrical coupling (GO:0010644)3.42916512
34regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.37937193
35regulation of membrane repolarization (GO:0060306)3.37556898
36activation of protein kinase A activity (GO:0034199)3.34627582
37protein localization to synapse (GO:0035418)3.34394407
38detection of calcium ion (GO:0005513)3.30655455
39potassium ion homeostasis (GO:0055075)3.30635690
40regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.29309466
41negative regulation of synaptic transmission, GABAergic (GO:0032229)3.28157168
42cell communication involved in cardiac conduction (GO:0086065)3.28027863
43postsynaptic membrane organization (GO:0001941)3.26631023
44negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.26511966
45ionotropic glutamate receptor signaling pathway (GO:0035235)3.25780066
46neurotransmitter-gated ion channel clustering (GO:0072578)3.25393747
47neuron-neuron synaptic transmission (GO:0007270)3.24335726
48positive regulation of potassium ion transmembrane transport (GO:1901381)3.23266387
49membrane depolarization during action potential (GO:0086010)3.21674492
50neurotransmitter transport (GO:0006836)3.21642739
51glycine transport (GO:0015816)3.19998200
52regulation of synapse maturation (GO:0090128)3.18502170
53negative regulation of potassium ion transmembrane transport (GO:1901380)3.17772777
54tricarboxylic acid cycle (GO:0006099)3.17729673
55regulation of neuronal synaptic plasticity (GO:0048168)3.17622771
56regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.16898630
57regulation of cell communication by electrical coupling (GO:0010649)3.16260922
58striatum development (GO:0021756)3.14117837
59cellular sodium ion homeostasis (GO:0006883)3.13423861
60regulation of vesicle fusion (GO:0031338)3.12442747
61regulation of long-term neuronal synaptic plasticity (GO:0048169)3.10424702
62cerebellar Purkinje cell differentiation (GO:0021702)3.06202427
63cellular potassium ion homeostasis (GO:0030007)3.05537958
64synaptic transmission, glutamatergic (GO:0035249)3.05140000
65proline transport (GO:0015824)3.04014992
66potassium ion import (GO:0010107)3.03638816
67actin-myosin filament sliding (GO:0033275)3.03616772
68muscle filament sliding (GO:0030049)3.03616772
69positive regulation of membrane potential (GO:0045838)3.01460021
70negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.00828180
71auditory behavior (GO:0031223)3.00165707
72regulation of voltage-gated calcium channel activity (GO:1901385)2.99337352
73L-amino acid import (GO:0043092)2.98761136
74striated muscle contraction (GO:0006941)2.98608812
75sarcomere organization (GO:0045214)2.98198039
76exploration behavior (GO:0035640)2.98012230
77regulation of neurotransmitter levels (GO:0001505)2.97483601
78regulation of cardiac muscle cell contraction (GO:0086004)2.97219202
79regulation of postsynaptic membrane potential (GO:0060078)2.95640174
80positive regulation of dendritic spine development (GO:0060999)2.94410324
81regulation of calcium ion transmembrane transporter activity (GO:1901019)2.92903609
82regulation of calcium ion transmembrane transport (GO:1903169)2.92903609
83regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.92006717
84succinate metabolic process (GO:0006105)2.89989811
85layer formation in cerebral cortex (GO:0021819)2.89673483
86regulation of dendritic spine morphogenesis (GO:0061001)2.89531136
87myofibril assembly (GO:0030239)2.89361538
88positive regulation of potassium ion transport (GO:0043268)2.88793692
89sodium ion export (GO:0071436)2.88301347
90cardiac conduction (GO:0061337)2.87839750
91positive regulation of synaptic transmission, GABAergic (GO:0032230)2.87710851
92neuromuscular synaptic transmission (GO:0007274)2.87241350
93NADH metabolic process (GO:0006734)2.87237562
94synaptic vesicle endocytosis (GO:0048488)2.87018968
95glutamate receptor signaling pathway (GO:0007215)2.86227849
96long-term memory (GO:0007616)2.85700017
97positive regulation of sodium ion transport (GO:0010765)2.84728408
98negative regulation of cytosolic calcium ion concentration (GO:0051481)2.84664279
99adult walking behavior (GO:0007628)2.82107440
100relaxation of cardiac muscle (GO:0055119)2.81931339
101gamma-aminobutyric acid signaling pathway (GO:0007214)2.80439655
102cardiac muscle hypertrophy (GO:0003300)2.79815821
103regulation of synaptic plasticity (GO:0048167)2.79510821
104cardiac muscle contraction (GO:0060048)2.78466288
105neuromuscular process controlling balance (GO:0050885)2.77642870
106regulation of heart rate by cardiac conduction (GO:0086091)2.77133023
107regulation of relaxation of muscle (GO:1901077)2.75183811
108regulation of excitatory postsynaptic membrane potential (GO:0060079)2.75009737
109neuronal ion channel clustering (GO:0045161)2.74912628
110neuron recognition (GO:0008038)2.73382061
111multicellular organismal signaling (GO:0035637)2.72258839
112long-term synaptic potentiation (GO:0060291)2.71813087
113membrane repolarization (GO:0086009)2.71403231
114regulation of neurotransmitter secretion (GO:0046928)2.71360245
115positive regulation of neurotransmitter transport (GO:0051590)2.71223826
116regulation of synaptic transmission, glutamatergic (GO:0051966)2.69635349
117transmission of nerve impulse (GO:0019226)2.68886519
118membrane hyperpolarization (GO:0060081)2.68880131
119regulation of potassium ion transmembrane transport (GO:1901379)2.68388022
120regulation of synaptic transmission, GABAergic (GO:0032228)2.67667541
121cardiac myofibril assembly (GO:0055003)2.67103318
122behavioral response to cocaine (GO:0048148)2.66712176
123regulation of neurotransmitter transport (GO:0051588)2.65866596
124vesicle transport along microtubule (GO:0047496)2.65842516
125membrane depolarization (GO:0051899)2.65527565
126sarcoplasmic reticulum calcium ion transport (GO:0070296)2.65521531
127neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.65022762
128positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.63776321

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.34599861
2GBX2_23144817_ChIP-Seq_PC3_Human3.56156409
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.00385238
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97944787
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.67796409
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52202409
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52202409
8SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44368857
9MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40904508
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.39007242
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.38400209
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36637895
13REST_21632747_ChIP-Seq_MESCs_Mouse2.36072376
14DROSHA_22980978_ChIP-Seq_HELA_Human2.33985645
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.32623181
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.31459729
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.26065794
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.07548755
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.05105066
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.04788743
21TAF15_26573619_Chip-Seq_HEK293_Human2.04364388
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.04307780
23ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.96302197
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.90682992
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81687682
26AR_21572438_ChIP-Seq_LNCaP_Human1.78022092
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.76844398
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.75527205
29SMAD4_21799915_ChIP-Seq_A2780_Human1.68689220
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.67281597
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.59997765
32TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49550070
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49297222
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.47792268
35* EP300_21415370_ChIP-Seq_HL-1_Mouse1.46722152
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45199636
37IKZF1_21737484_ChIP-ChIP_HCT116_Human1.43280662
38NR3C1_23031785_ChIP-Seq_PC12_Mouse1.42158971
39* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.39554072
40SOX2_21211035_ChIP-Seq_LN229_Gbm1.39333277
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.38298064
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.37263744
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36887791
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36607443
45CDX2_19796622_ChIP-Seq_MESCs_Mouse1.36258425
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32372935
47IGF1R_20145208_ChIP-Seq_DFB_Human1.31604526
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.31307752
49P300_19829295_ChIP-Seq_ESCs_Human1.30249283
50EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29243367
51OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28704604
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28252184
53ZNF274_21170338_ChIP-Seq_K562_Hela1.26605710
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.25380450
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.24968248
56TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21361692
57* STAT3_23295773_ChIP-Seq_U87_Human1.20111960
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19201604
59AR_25329375_ChIP-Seq_VCAP_Human1.17486042
60DNAJC2_21179169_ChIP-ChIP_NT2_Human1.16313219
61RING1B_27294783_Chip-Seq_ESCs_Mouse1.12796292
62CBX2_27304074_Chip-Seq_ESCs_Mouse1.12167382
63AR_19668381_ChIP-Seq_PC3_Human1.11901016
64WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11275242
65* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10157244
66AHR_22903824_ChIP-Seq_MCF-7_Human1.08866139
67* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08121774
68ARNT_22903824_ChIP-Seq_MCF-7_Human1.07610311
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.07387121
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06777617
71* TCF4_23295773_ChIP-Seq_U87_Human1.06523745
72BMI1_23680149_ChIP-Seq_NPCS_Mouse1.06503906
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05445185
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05127972
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.03348329
76TET1_21490601_ChIP-Seq_MESCs_Mouse1.03018976
77ESR1_20079471_ChIP-ChIP_T-47D_Human1.02569184
78VDR_22108803_ChIP-Seq_LS180_Human1.02194927
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01976640
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00743038
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.00432583
82UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00413567
83ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99219684
84* SMAD4_21741376_ChIP-Seq_HESCs_Human0.99097851
85ER_23166858_ChIP-Seq_MCF-7_Human0.97667197
86MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97114354
87YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95829110
88* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95283607
89* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94036609
90NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92577422
91* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91997837
92SMAD3_21741376_ChIP-Seq_HESCs_Human0.91010567
93* RUNX2_22187159_ChIP-Seq_PCA_Human0.90795512
94RING1B_27294783_Chip-Seq_NPCs_Mouse0.90106143
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.89883454
96* RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89471618
97OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.88067361
98KDM2B_26808549_Chip-Seq_K562_Human0.87538734
99SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87254424
100EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86618782
101HTT_18923047_ChIP-ChIP_STHdh_Human0.86406153
102BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.86014298
103FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.86006307
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.85869041
105RNF2_27304074_Chip-Seq_NSC_Mouse0.85417298
106CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.85291020
107PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.85281006
108TRIM28_21343339_ChIP-Seq_HEK293_Human0.85150237
109BCAT_22108803_ChIP-Seq_LS180_Human0.84729738
110EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.84710924
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82994096
112SMAD3_21741376_ChIP-Seq_ESCs_Human0.82954200
113CTCF_27219007_Chip-Seq_Bcells_Human0.82669159
114WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.82360994
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.81410283
116NANOG_18555785_Chip-Seq_ESCs_Mouse0.80849297
117PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.80645753
118SMAD4_21741376_ChIP-Seq_EPCs_Human0.80558255
119CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78619857
120RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.78377361
121CTNNB1_20460455_ChIP-Seq_HCT116_Human0.78156767

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.64272928
2MP0003880_abnormal_central_pattern3.99079341
3MP0002837_dystrophic_cardiac_calcinosis3.35479531
4MP0003635_abnormal_synaptic_transmissio3.33452217
5MP0002822_catalepsy3.10892242
6MP0009046_muscle_twitch3.10424391
7MP0004270_analgesia3.03734053
8MP0009745_abnormal_behavioral_response2.88537059
9MP0002064_seizures2.86274222
10MP0000751_myopathy2.85412419
11MP0001968_abnormal_touch/_nociception2.59029976
12MP0002063_abnormal_learning/memory/cond2.57961350
13MP0002272_abnormal_nervous_system2.55317169
14MP0003646_muscle_fatigue2.46588595
15MP0004215_abnormal_myocardial_fiber2.41460608
16MP0002734_abnormal_mechanical_nocicepti2.30218907
17MP0002572_abnormal_emotion/affect_behav2.28461370
18MP0001486_abnormal_startle_reflex2.25590955
19MP0002736_abnormal_nociception_after2.12854929
20MP0004084_abnormal_cardiac_muscle2.12376302
21MP0002735_abnormal_chemical_nociception2.09172987
22MP0005423_abnormal_somatic_nervous2.06635336
23MP0004036_abnormal_muscle_relaxation1.96953907
24MP0009780_abnormal_chondrocyte_physiolo1.85319791
25MP0001501_abnormal_sleep_pattern1.84317949
26MP0002909_abnormal_adrenal_gland1.83640546
27MP0001970_abnormal_pain_threshold1.83299697
28MP0002067_abnormal_sensory_capabilities1.80088066
29MP0002733_abnormal_thermal_nociception1.79780385
30MP0005646_abnormal_pituitary_gland1.73854906
31MP0008569_lethality_at_weaning1.73711666
32MP0003137_abnormal_impulse_conducting1.72414691
33MP0006276_abnormal_autonomic_nervous1.71056122
34MP0001529_abnormal_vocalization1.70858321
35MP0005386_behavior/neurological_phenoty1.70469593
36MP0004924_abnormal_behavior1.70469593
37MP0001440_abnormal_grooming_behavior1.67145814
38MP0004085_abnormal_heartbeat1.60167687
39MP0000749_muscle_degeneration1.59403027
40MP0004142_abnormal_muscle_tone1.54578616
41MP0003329_amyloid_beta_deposits1.51262091
42MP0004484_altered_response_of1.46866770
43MP0004145_abnormal_muscle_electrophysio1.44856824
44MP0000013_abnormal_adipose_tissue1.40280407
45MP0005330_cardiomyopathy1.39900474
46MP0004811_abnormal_neuron_physiology1.39055412
47MP0002972_abnormal_cardiac_muscle1.38662127
48MP0003122_maternal_imprinting1.34016064
49MP0002557_abnormal_social/conspecific_i1.33365903
50MP0002184_abnormal_innervation1.32694701
51MP0005620_abnormal_muscle_contractility1.29538619
52MP0002066_abnormal_motor_capabilities/c1.27993410
53MP0004130_abnormal_muscle_cell1.27888495
54MP0000955_abnormal_spinal_cord1.26862335
55MP0004858_abnormal_nervous_system1.26543328
56MP0001905_abnormal_dopamine_level1.25440758
57MP0003633_abnormal_nervous_system1.22442026
58MP0001984_abnormal_olfaction1.21637679
59MP0000778_abnormal_nervous_system1.20802498
60MP0003879_abnormal_hair_cell1.18710015
61MP0004043_abnormal_pH_regulation1.18271998
62MP0008775_abnormal_heart_ventricle1.18172578
63MP0000747_muscle_weakness1.16420744
64MP0003123_paternal_imprinting1.15136654
65MP0002638_abnormal_pupillary_reflex1.15087800
66MP0002882_abnormal_neuron_morphology1.14833835
67MP0000920_abnormal_myelination1.11469190
68MP0004233_abnormal_muscle_weight1.10292494
69MP0003787_abnormal_imprinting1.09291154
70MP0004885_abnormal_endolymph1.06086527
71MP0004087_abnormal_muscle_fiber1.05995770
72MP0005645_abnormal_hypothalamus_physiol1.01301916
73MP0002102_abnormal_ear_morphology1.01053327
74MP0002229_neurodegeneration1.00955859
75MP0003690_abnormal_glial_cell1.00302311
76MP0003631_nervous_system_phenotype0.99730311
77MP0006138_congestive_heart_failure0.94295531
78MP0002106_abnormal_muscle_physiology0.92738185
79MP0003634_abnormal_glial_cell0.92156636
80MP0001502_abnormal_circadian_rhythm0.91934778
81MP0001986_abnormal_taste_sensitivity0.90625908
82MP0005535_abnormal_body_temperature0.89160432
83MP0002269_muscular_atrophy0.88089776
84MP0005385_cardiovascular_system_phenoty0.86248137
85MP0001544_abnormal_cardiovascular_syste0.86248137
86MP0005369_muscle_phenotype0.85826856
87MP0008874_decreased_physiological_sensi0.85406890
88MP0010386_abnormal_urinary_bladder0.84469425
89MP0005623_abnormal_meninges_morphology0.84134234
90MP0006036_abnormal_mitochondrial_physio0.82482095
91MP0000759_abnormal_skeletal_muscle0.79223211
92MP0002332_abnormal_exercise_endurance0.77820825
93MP0002152_abnormal_brain_morphology0.74062404
94MP0004510_myositis0.73931747
95MP0001188_hyperpigmentation0.73503564
96MP0008877_abnormal_DNA_methylation0.72254490
97MP0005551_abnormal_eye_electrophysiolog0.71998823
98MP0001963_abnormal_hearing_physiology0.71968588
99MP0006035_abnormal_mitochondrial_morpho0.71534898
100MP0004147_increased_porphyrin_level0.71087815
101MP0002069_abnormal_eating/drinking_beha0.70868350
102MP0001177_atelectasis0.70427351
103MP0008872_abnormal_physiological_respon0.70381348
104MP0010630_abnormal_cardiac_muscle0.69948071
105MP0000750_abnormal_muscle_regeneration0.69924768
106MP0000230_abnormal_systemic_arterial0.69751439
107MP0003121_genomic_imprinting0.68675224
108MP0001299_abnormal_eye_distance/0.66466861
109MP0002090_abnormal_vision0.66126186
110MP0001485_abnormal_pinna_reflex0.64136064
111MP0003632_abnormal_nervous_system0.63282342

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.29765567
2Myokymia (HP:0002411)5.50441221
3Focal seizures (HP:0007359)4.38470371
4Pheochromocytoma (HP:0002666)4.14600018
5Atonic seizures (HP:0010819)4.06429250
6Sudden death (HP:0001699)3.94327157
7Visual hallucinations (HP:0002367)3.73339360
8Neuroendocrine neoplasm (HP:0100634)3.70252751
9Febrile seizures (HP:0002373)3.65503232
10Epileptic encephalopathy (HP:0200134)3.54418487
11Atrial fibrillation (HP:0005110)3.31474432
12Absence seizures (HP:0002121)3.26626706
13Progressive cerebellar ataxia (HP:0002073)3.26407109
14Bundle branch block (HP:0011710)3.23158307
15Exercise-induced myalgia (HP:0003738)3.22387291
16Ventricular fibrillation (HP:0001663)3.21660137
17Generalized tonic-clonic seizures (HP:0002069)3.19706260
18Primary atrial arrhythmia (HP:0001692)3.15417812
19Prolonged QT interval (HP:0001657)3.12238895
20Action tremor (HP:0002345)3.08653148
21Calf muscle hypertrophy (HP:0008981)3.06259829
22Ankle clonus (HP:0011448)3.05200550
23Syncope (HP:0001279)3.03396513
24Dialeptic seizures (HP:0011146)2.99058093
25Supraventricular tachycardia (HP:0004755)2.97953649
26Muscle hypertrophy of the lower extremities (HP:0008968)2.94045836
27Supraventricular arrhythmia (HP:0005115)2.89260911
28Anxiety (HP:0000739)2.81051553
29Papilledema (HP:0001085)2.80472459
30Mutism (HP:0002300)2.78154776
31Depression (HP:0000716)2.74249266
32Dysdiadochokinesis (HP:0002075)2.73090806
33Supranuclear gaze palsy (HP:0000605)2.72188819
34Abnormality of the calf musculature (HP:0001430)2.72070978
35Abnormal mitochondria in muscle tissue (HP:0008316)2.70193475
36Limb dystonia (HP:0002451)2.68302537
37Abnormality of the left ventricular outflow tract (HP:0011103)2.64977042
38Subaortic stenosis (HP:0001682)2.64977042
39Impaired vibration sensation in the lower limbs (HP:0002166)2.64561731
40Exercise-induced muscle cramps (HP:0003710)2.63280373
41Acute necrotizing encephalopathy (HP:0006965)2.62342233
42Abnormal EKG (HP:0003115)2.60533292
43Dysmetric saccades (HP:0000641)2.58924831
44Dysmetria (HP:0001310)2.56879972
45Myotonia (HP:0002486)2.53697320
46Progressive inability to walk (HP:0002505)2.51293661
47Hyperventilation (HP:0002883)2.50967983
48EMG: neuropathic changes (HP:0003445)2.50888695
49Abnormal eating behavior (HP:0100738)2.50270625
50Poor eye contact (HP:0000817)2.49529092
51Broad-based gait (HP:0002136)2.47869360
52Urinary urgency (HP:0000012)2.47719445
53Gaze-evoked nystagmus (HP:0000640)2.47556743
54Postural instability (HP:0002172)2.45712233
55Abnormal social behavior (HP:0012433)2.44657631
56Impaired social interactions (HP:0000735)2.44657631
57Drooling (HP:0002307)2.44288074
58Heart block (HP:0012722)2.42824368
59Urinary bladder sphincter dysfunction (HP:0002839)2.41938668
60Scanning speech (HP:0002168)2.40090757
61Sleep apnea (HP:0010535)2.39985024
62Neoplasm of the peripheral nervous system (HP:0100007)2.39002150
63Progressive macrocephaly (HP:0004481)2.38599031
64Truncal ataxia (HP:0002078)2.38584297
65Type 1 muscle fiber predominance (HP:0003803)2.35588493
66Fetal akinesia sequence (HP:0001989)2.34977197
67Insidious onset (HP:0003587)2.34654699
68Termporal pattern (HP:0011008)2.34654699
69Torticollis (HP:0000473)2.33366326
70Ventricular tachycardia (HP:0004756)2.33022045
71Hyporeflexia of lower limbs (HP:0002600)2.32394485
72Status epilepticus (HP:0002133)2.31754738
73Neurofibrillary tangles (HP:0002185)2.30949763
74Tetraplegia (HP:0002445)2.30563111
75Muscle fiber splitting (HP:0003555)2.30415481
76Resting tremor (HP:0002322)2.30151977
77Akinesia (HP:0002304)2.29863182
78Lipoatrophy (HP:0100578)2.29186204
79Hemiparesis (HP:0001269)2.29117857
80Ventricular arrhythmia (HP:0004308)2.27609918
81Palpitations (HP:0001962)2.26698386
82Excessive salivation (HP:0003781)2.24148664
83Intention tremor (HP:0002080)2.23580957
84Failure to thrive in infancy (HP:0001531)2.22809596
85Abnormal atrioventricular conduction (HP:0005150)2.21437871
86EMG: myopathic abnormalities (HP:0003458)2.21330530
87Frequent falls (HP:0002359)2.20200038
88Muscle fiber inclusion bodies (HP:0100299)2.19115407
89Left ventricular hypertrophy (HP:0001712)2.18179060
90Spastic gait (HP:0002064)2.17692994
91Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.15354785
92Cerebral hypomyelination (HP:0006808)2.13774771
93Dilated cardiomyopathy (HP:0001644)2.13324182
94Atrioventricular block (HP:0001678)2.12415773
95Acute encephalopathy (HP:0006846)2.10908441
96Asymmetric septal hypertrophy (HP:0001670)2.07378331
97Focal dystonia (HP:0004373)2.05137409
98Nemaline bodies (HP:0003798)2.03135967
99Right ventricular cardiomyopathy (HP:0011663)2.02384833
100Lower limb muscle weakness (HP:0007340)1.99862668
101Obstructive sleep apnea (HP:0002870)1.99298525
102Rimmed vacuoles (HP:0003805)1.99066483
103Abnormality of the corticospinal tract (HP:0002492)1.98840533
104Mitochondrial inheritance (HP:0001427)1.98493290
105Abnormality of the lower motor neuron (HP:0002366)1.97864547
106Abnormality of pain sensation (HP:0010832)1.97239255
107Impaired pain sensation (HP:0007328)1.97239255
108Craniofacial dystonia (HP:0012179)1.96682365
109Hepatocellular necrosis (HP:0001404)1.94600417
110Myoglobinuria (HP:0002913)1.94494086
111Foot dorsiflexor weakness (HP:0009027)1.94247756
112Epileptiform EEG discharges (HP:0011182)1.93871332
113Bradykinesia (HP:0002067)1.92637198
114Bradycardia (HP:0001662)1.92415438
115Lower limb amyotrophy (HP:0007210)1.89809703
116EEG with generalized epileptiform discharges (HP:0011198)1.88891158
117Difficulty running (HP:0009046)1.87738514
118Polyphagia (HP:0002591)1.86850151
119Genetic anticipation (HP:0003743)1.86499746
120Abnormality of binocular vision (HP:0011514)1.86322174
121Diplopia (HP:0000651)1.86322174
122Rapidly progressive (HP:0003678)1.85959543
123Oligomenorrhea (HP:0000876)1.85705746
124Hypsarrhythmia (HP:0002521)1.84943884
125Abnormality of the vocal cords (HP:0008777)1.83453337
126Abnormality of the foot musculature (HP:0001436)1.81716932
127Hemiplegia (HP:0002301)1.81573363
128Impaired vibratory sensation (HP:0002495)1.78826860

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.52145353
2MAP3K43.06726019
3EPHA42.80927487
4MAP3K92.62334522
5MAP2K72.62204178
6LMTK22.43965963
7MAP3K122.32881282
8PHKG12.30203617
9PHKG22.30203617
10MARK12.22371838
11MINK12.17803390
12CASK2.04110328
13MAP2K42.00968086
14PDK41.96204660
15PDK31.96204660
16PAK61.82549644
17DAPK21.70623666
18CDK191.66894606
19PINK11.65034526
20NTRK21.63626614
21PRKD31.58944194
22NTRK11.57101830
23KSR21.51693491
24SGK2231.40356204
25SGK4941.40356204
26GRK51.38233908
27PDK21.37202854
28MYLK1.33426050
29CDK51.32527197
30WNK11.31566366
31UHMK11.31355481
32OXSR11.30369912
33CAMKK11.28830012
34PLK21.24214021
35STK391.23027124
36NEK11.22933510
37STK381.19650951
38PAK31.18269893
39CAMK2A1.17087065
40WNK41.12500275
41CAMK2D1.11387486
42PRPF4B1.02526248
43TTN1.01905470
44PRKCH1.01287890
45MAPK131.01211322
46PRKCG1.01059952
47RIPK11.00139529
48SGK21.00053520
49MUSK0.98404020
50OBSCN0.98296909
51CAMK2B0.95809167
52GRK70.94432561
53DYRK1A0.91619673
54DAPK10.89766263
55MAP3K20.89705977
56BCR0.89605348
57LIMK10.88095203
58SGK30.87854739
59DMPK0.87715161
60CAMK2G0.86488771
61PRKCE0.85948895
62ARAF0.84315865
63RET0.84306330
64CAMKK20.82498438
65CDC42BPA0.80282449
66PKN10.80248410
67TNIK0.78604574
68CAMK10.78493658
69AKT30.75505790
70LATS20.74392540
71FES0.74332287
72PDPK10.72519527
73RIPK40.71012652
74ROCK20.70665535
75KSR10.70591027
76CDK140.68712895
77CDK180.67773779
78MAP3K10.66231618
79CDK150.65842835
80SGK10.65656252
81STK110.64994484
82PDK10.64776034
83DAPK30.64415763
84EPHA30.61863191
85PRKD10.61013156
86PIK3CA0.60237729
87TAOK10.59903620
88ROCK10.59694654
89PTK2B0.59310305
90MAPKAPK50.59236067
91MAP3K110.58889706
92MAP3K60.58504383
93PNCK0.57842382
94PRKG10.57838319
95CAMK40.56326429
96PRKAA10.55860569
97ERBB30.54984400
98TYRO30.54842080
99CDK11A0.54060366
100FER0.53599479
101MAP3K50.53546845
102MAPK100.52713852
103CSNK1G20.52567388
104MARK20.51695806
105MAPK120.50706501
106TSSK60.49661736
107PRKACA0.48544330
108TESK10.48158644
109RPS6KA30.47593453
110NEK60.46564377
111INSRR0.46160667
112WNK30.46081101
113SIK20.44872958
114MAP3K70.43040265
115DYRK20.42042346
116CSNK1G30.39825997
117PRKCZ0.39376510
118MAPK40.38428325
119PRKACG0.36073040
120PRKCA0.34615418

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.23368768
2Nicotine addiction_Homo sapiens_hsa050332.84353781
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.71115970
4GABAergic synapse_Homo sapiens_hsa047272.45450624
5Olfactory transduction_Homo sapiens_hsa047402.24038293
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.17484777
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.16354265
8Circadian entrainment_Homo sapiens_hsa047132.15296174
9Morphine addiction_Homo sapiens_hsa050322.12883609
10Cardiac muscle contraction_Homo sapiens_hsa042602.06683722
11Collecting duct acid secretion_Homo sapiens_hsa049662.04098501
12Glutamatergic synapse_Homo sapiens_hsa047241.88899844
13Oxidative phosphorylation_Homo sapiens_hsa001901.85015368
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.84806994
15Amphetamine addiction_Homo sapiens_hsa050311.83282227
16Insulin secretion_Homo sapiens_hsa049111.80194079
17Dopaminergic synapse_Homo sapiens_hsa047281.78499603
18Long-term potentiation_Homo sapiens_hsa047201.77557207
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75596274
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.73798715
21Parkinsons disease_Homo sapiens_hsa050121.67292564
22Salivary secretion_Homo sapiens_hsa049701.61202990
23Taste transduction_Homo sapiens_hsa047421.61165341
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.59143084
25Dilated cardiomyopathy_Homo sapiens_hsa054141.53860670
26Gastric acid secretion_Homo sapiens_hsa049711.53280370
27Cholinergic synapse_Homo sapiens_hsa047251.51043415
28Cocaine addiction_Homo sapiens_hsa050301.45605600
29Renin secretion_Homo sapiens_hsa049241.40056359
30Calcium signaling pathway_Homo sapiens_hsa040201.37670800
31Serotonergic synapse_Homo sapiens_hsa047261.34552019
32Alzheimers disease_Homo sapiens_hsa050101.33662935
33Vibrio cholerae infection_Homo sapiens_hsa051101.33470213
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.30377963
35Aldosterone synthesis and secretion_Homo sapiens_hsa049251.30077661
36Oxytocin signaling pathway_Homo sapiens_hsa049211.27624115
37Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.21307384
38Long-term depression_Homo sapiens_hsa047301.17190153
39Butanoate metabolism_Homo sapiens_hsa006501.16538373
40Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.16419137
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.13344162
42Nitrogen metabolism_Homo sapiens_hsa009101.13098395
43Gap junction_Homo sapiens_hsa045401.11254968
44Type II diabetes mellitus_Homo sapiens_hsa049301.05949648
45cAMP signaling pathway_Homo sapiens_hsa040241.05682586
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.98431166
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98175669
48Pyruvate metabolism_Homo sapiens_hsa006200.94868222
49GnRH signaling pathway_Homo sapiens_hsa049120.94489512
50Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.93923086
51Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.92137345
52Propanoate metabolism_Homo sapiens_hsa006400.91844330
53Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91181685
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89331156
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.88045012
56Huntingtons disease_Homo sapiens_hsa050160.87570264
57Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.84332149
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.81892977
59Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80268314
60Vitamin B6 metabolism_Homo sapiens_hsa007500.79499658
61Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75825390
62Estrogen signaling pathway_Homo sapiens_hsa049150.75138377
63Axon guidance_Homo sapiens_hsa043600.73112647
64Fatty acid elongation_Homo sapiens_hsa000620.71902867
65Pancreatic secretion_Homo sapiens_hsa049720.70591867
66Arginine and proline metabolism_Homo sapiens_hsa003300.67926964
67Carbon metabolism_Homo sapiens_hsa012000.67661104
68Glucagon signaling pathway_Homo sapiens_hsa049220.65529737
69Dorso-ventral axis formation_Homo sapiens_hsa043200.65242636
70Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.64288836
71ErbB signaling pathway_Homo sapiens_hsa040120.63006792
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62931573
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.62790622
74Arginine biosynthesis_Homo sapiens_hsa002200.61018638
75Melanogenesis_Homo sapiens_hsa049160.59145719
76Fatty acid metabolism_Homo sapiens_hsa012120.56888889
77Glioma_Homo sapiens_hsa052140.54926481
78Type I diabetes mellitus_Homo sapiens_hsa049400.51105320
79Tight junction_Homo sapiens_hsa045300.50859878
80Insulin signaling pathway_Homo sapiens_hsa049100.50114101
81MAPK signaling pathway_Homo sapiens_hsa040100.49247566
82Phospholipase D signaling pathway_Homo sapiens_hsa040720.48109389
83Thyroid hormone synthesis_Homo sapiens_hsa049180.47110316
84Bile secretion_Homo sapiens_hsa049760.45294914
85AMPK signaling pathway_Homo sapiens_hsa041520.45101579
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44536972
87Phototransduction_Homo sapiens_hsa047440.43299741
88Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42306291
89Prion diseases_Homo sapiens_hsa050200.41632856
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41227224
91Phenylalanine metabolism_Homo sapiens_hsa003600.41146427
92Ras signaling pathway_Homo sapiens_hsa040140.40386499
93Rheumatoid arthritis_Homo sapiens_hsa053230.37101279
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37058712
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.36860193
96* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36858145
97Inositol phosphate metabolism_Homo sapiens_hsa005620.35848099
98Endocytosis_Homo sapiens_hsa041440.35736263
99Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.33920946
100Rap1 signaling pathway_Homo sapiens_hsa040150.33825977
101Mineral absorption_Homo sapiens_hsa049780.33554483
102Renal cell carcinoma_Homo sapiens_hsa052110.33541678
103Regulation of autophagy_Homo sapiens_hsa041400.33043268
104Histidine metabolism_Homo sapiens_hsa003400.32180729
105Oocyte meiosis_Homo sapiens_hsa041140.32167353
106VEGF signaling pathway_Homo sapiens_hsa043700.31499870
107Circadian rhythm_Homo sapiens_hsa047100.31491887
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31411043
109Ovarian steroidogenesis_Homo sapiens_hsa049130.31193895
110Neurotrophin signaling pathway_Homo sapiens_hsa047220.30291025
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30242735
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.30226182
113Fatty acid degradation_Homo sapiens_hsa000710.30045905
114Phagosome_Homo sapiens_hsa041450.29291246
115beta-Alanine metabolism_Homo sapiens_hsa004100.27795430
116Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27220603
117Alcoholism_Homo sapiens_hsa050340.26458324
118Sphingolipid signaling pathway_Homo sapiens_hsa040710.25013737
119PPAR signaling pathway_Homo sapiens_hsa033200.23890347

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