RYR2

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 ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)7.71741785
2sarcomere organization (GO:0045214)7.47546146
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.89377878
4* regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.87079909
5myofibril assembly (GO:0030239)6.56537212
6negative regulation of potassium ion transmembrane transport (GO:1901380)6.35200991
7* regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.29201965
8* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.27898102
9* cardiac muscle contraction (GO:0060048)5.94163555
10regulation of relaxation of muscle (GO:1901077)5.77603975
11regulation of actin filament-based movement (GO:1903115)5.75337200
12cardiac muscle cell development (GO:0055013)5.39013728
13* cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.36090106
14regulation of cell communication by electrical coupling (GO:0010649)5.17687128
15regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.15978277
16* positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.14325580
17cardiac cell development (GO:0055006)5.03702669
18regulation of sarcomere organization (GO:0060297)5.00493187
19adult heart development (GO:0007512)5.00390199
20* cell communication involved in cardiac conduction (GO:0086065)4.99414188
21cardiac chamber formation (GO:0003207)4.97436098
22regulation of membrane repolarization (GO:0060306)4.93739041
23tricarboxylic acid cycle (GO:0006099)4.92398306
24plasma membrane repair (GO:0001778)4.90732620
25actin-myosin filament sliding (GO:0033275)4.86529331
26muscle filament sliding (GO:0030049)4.86529331
27* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.84618416
28actomyosin structure organization (GO:0031032)4.83702774
29* ventricular cardiac muscle cell action potential (GO:0086005)4.73911094
30bundle of His cell to Purkinje myocyte communication (GO:0086069)4.67745809
31* cardiac muscle tissue morphogenesis (GO:0055008)4.67209225
32* cell communication by electrical coupling (GO:0010644)4.66854450
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.65993850
34regulation of the force of heart contraction (GO:0002026)4.63798625
35* cardiac muscle hypertrophy (GO:0003300)4.61489151
36regulation of cardiac muscle cell contraction (GO:0086004)4.59775840
37relaxation of cardiac muscle (GO:0055119)4.53084331
38* regulation of striated muscle contraction (GO:0006942)4.48178399
39* ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.38813509
40* striated muscle contraction (GO:0006941)4.36393196
41* striated muscle hypertrophy (GO:0014897)4.35428422
42regulation of skeletal muscle contraction (GO:0014819)4.33985564
43regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.32288982
44cardiac ventricle formation (GO:0003211)4.22293683
45carnitine shuttle (GO:0006853)4.15493651
46cardiac conduction (GO:0061337)4.12835716
47* regulation of cardiac muscle contraction (GO:0055117)4.12762888
48heart trabecula formation (GO:0060347)4.11868555
49* muscle tissue morphogenesis (GO:0060415)4.10859373
50regulation of acyl-CoA biosynthetic process (GO:0050812)4.09695892
51positive regulation of action potential (GO:0045760)4.07618857
52actin-mediated cell contraction (GO:0070252)4.07022296
53negative regulation of cytosolic calcium ion concentration (GO:0051481)4.02696830
54* regulation of ATPase activity (GO:0043462)3.90391806
55* regulation of ATP catabolic process (GO:1903289)3.90391806
56regulation of heart rate by cardiac conduction (GO:0086091)3.88153687
57positive regulation of potassium ion transmembrane transport (GO:1901381)3.85627373
58* regulation of heart rate (GO:0002027)3.78823225
59negative regulation of potassium ion transport (GO:0043267)3.77744659
60regulation of cofactor metabolic process (GO:0051193)3.76660727
61regulation of coenzyme metabolic process (GO:0051196)3.76660727
62* muscle hypertrophy (GO:0014896)3.75958525
63* cardiac muscle cell action potential (GO:0086001)3.74397108
64negative regulation of protein localization to cell surface (GO:2000009)3.72916456
65positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.72297220
66regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.71764671
67cardiac muscle adaptation (GO:0014887)3.66802267
68cardiac muscle hypertrophy in response to stress (GO:0014898)3.66802267
69muscle hypertrophy in response to stress (GO:0003299)3.66802267
70positive regulation of sodium ion transport (GO:0010765)3.64055759
71negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.63225158
72* regulation of heart contraction (GO:0008016)3.61986950
73* cardiac muscle cell action potential involved in contraction (GO:0086002)3.61119604
74* regulation of calcium ion transmembrane transporter activity (GO:1901019)3.59401804
75* regulation of calcium ion transmembrane transport (GO:1903169)3.59401804
76* positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.58997337
77response to inactivity (GO:0014854)3.57004532
78NADH metabolic process (GO:0006734)3.55079619
79fatty acid transmembrane transport (GO:1902001)3.54539601
80heart process (GO:0003015)3.52618665
81heart contraction (GO:0060047)3.52618665
82* regulation of muscle contraction (GO:0006937)3.42164308
83regulation of cardioblast differentiation (GO:0051890)3.40571836
84membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.40341668
85atrial septum morphogenesis (GO:0060413)3.38509880
86activation of protein kinase A activity (GO:0034199)3.31286780
87cardiac muscle tissue development (GO:0048738)3.30731020
88* muscle contraction (GO:0006936)3.28171724
89negative regulation of calcium ion transmembrane transport (GO:1903170)3.28102833
90negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.28102833
91striated muscle adaptation (GO:0014888)3.28062117
92response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.27700568
93ventricular cardiac muscle cell development (GO:0055015)3.25975794
94* regulation of muscle system process (GO:0090257)3.25935957
95positive regulation of cardiac muscle tissue growth (GO:0055023)3.22554860
96potassium ion import (GO:0010107)3.21513772
97positive regulation of cardiac muscle cell differentiation (GO:2000727)3.20027061
98regulation of potassium ion transmembrane transport (GO:1901379)3.17637230
99regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.16934709
100* sarcoplasmic reticulum calcium ion transport (GO:0070296)3.16675727
101regulation of potassium ion transmembrane transporter activity (GO:1901016)3.13333866
102actin filament-based movement (GO:0030048)3.12734077
103neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.11646696
104* positive regulation of cation channel activity (GO:2001259)3.11152334
105* muscle system process (GO:0003012)3.11064245
106negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.08403783
107potassium ion export (GO:0071435)3.08197734
108negative regulation of striated muscle cell apoptotic process (GO:0010664)3.07284257
109desmosome organization (GO:0002934)3.07216463
110relaxation of muscle (GO:0090075)3.06551086
111carnitine transmembrane transport (GO:1902603)3.04219770
112relaxation of smooth muscle (GO:0044557)3.04045439
113striated muscle cell development (GO:0055002)3.03767744
114membrane repolarization during action potential (GO:0086011)3.03524578
115regulation of synapse structural plasticity (GO:0051823)3.03350083
116* regulation of cation channel activity (GO:2001257)3.02610897
117regulation of sulfur metabolic process (GO:0042762)3.02356076
118sodium ion export (GO:0071436)3.01397010
119oxygen transport (GO:0015671)2.99869755
120mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.99328522
121membrane repolarization (GO:0086009)2.99305859
122multicellular organismal signaling (GO:0035637)2.96616931
123positive regulation of potassium ion transport (GO:0043268)2.96317121
124membrane depolarization during action potential (GO:0086010)2.96013653
125* detection of calcium ion (GO:0005513)2.93768896

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.55563470
2* EP300_21415370_ChIP-Seq_HL-1_Mouse3.48805743
3GBX2_23144817_ChIP-Seq_PC3_Human2.67816664
4ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.67176087
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.51929457
6DROSHA_22980978_ChIP-Seq_HELA_Human2.49038577
7* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.35123924
8* TBX20_22328084_ChIP-Seq_HEART_Mouse2.27975505
9* TBX20_22080862_ChIP-Seq_HEART_Mouse2.27975505
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.20425711
11VDR_22108803_ChIP-Seq_LS180_Human2.17306458
12PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.17017352
13RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.15240095
14* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.12521937
15* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.12521937
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.03911724
17ESR1_20079471_ChIP-ChIP_T-47D_Human2.03170827
18* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.02445564
19CDX2_19796622_ChIP-Seq_MESCs_Mouse1.99473095
20* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.99060386
21RARB_27405468_Chip-Seq_BRAIN_Mouse1.90249847
22* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.81656021
23JARID2_20075857_ChIP-Seq_MESCs_Mouse1.78437320
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78146693
25* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.75927809
26* EZH2_27294783_Chip-Seq_ESCs_Mouse1.74723753
27* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.70873395
28* MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.66574209
29GATA1_22025678_ChIP-Seq_K562_Human1.65021607
30RNF2_27304074_Chip-Seq_ESCs_Mouse1.63910144
31AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.59262291
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.57022647
33* EED_16625203_ChIP-ChIP_MESCs_Mouse1.55807676
34* SMAD4_21799915_ChIP-Seq_A2780_Human1.55370859
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55135704
36NR3C1_23031785_ChIP-Seq_PC12_Mouse1.53998202
37CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.52082207
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50525756
39* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.49228110
40* REST_21632747_ChIP-Seq_MESCs_Mouse1.49208141
41* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.46013463
42MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39548259
43* SOX2_21211035_ChIP-Seq_LN229_Gbm1.38676276
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38478510
45ZNF263_19887448_ChIP-Seq_K562_Human1.37733323
46ZNF274_21170338_ChIP-Seq_K562_Hela1.34386271
47TP53_16413492_ChIP-PET_HCT116_Human1.33893567
48POU3F2_20337985_ChIP-ChIP_501MEL_Human1.32928437
49WT1_19549856_ChIP-ChIP_CCG9911_Human1.32652714
50* REST_18959480_ChIP-ChIP_MESCs_Mouse1.32196593
51FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.31184991
52* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30010187
53SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.30005720
54THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29442017
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29438360
56TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28424143
57AR_21572438_ChIP-Seq_LNCaP_Human1.27407063
58WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27169936
59* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.27047328
60SMAD3_21741376_ChIP-Seq_HESCs_Human1.26111333
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24249532
62CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22335109
63AHR_22903824_ChIP-Seq_MCF-7_Human1.21420133
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.21169870
65TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21159962
66EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20443616
67NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.19287599
68PCGF2_27294783_Chip-Seq_NPCs_Mouse1.18766404
69* AR_19668381_ChIP-Seq_PC3_Human1.17216233
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17067352
71SMAD4_21741376_ChIP-Seq_HESCs_Human1.15886652
72SMAD3_21741376_ChIP-Seq_EPCs_Human1.15739207
73LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13847700
74* TAF15_26573619_Chip-Seq_HEK293_Human1.11768021
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.11373047
76TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10749022
77NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08730848
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08730848
79PIAS1_25552417_ChIP-Seq_VCAP_Human1.08234551
80ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.07941215
81TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07865156
82* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07810430
83RING1B_27294783_Chip-Seq_ESCs_Mouse1.06156994
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05773491
85* ISL1_27105846_Chip-Seq_CPCs_Mouse1.05218170
86NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05165335
87* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04325298
88* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.04062694
89GATA4_21415370_ChIP-Seq_HL-1_Mouse1.03482887
90CTBP2_25329375_ChIP-Seq_LNCAP_Human1.03138504
91TRIM28_21343339_ChIP-Seq_HEK293_Human1.02722065
92CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.02100185
93* TCF4_23295773_ChIP-Seq_U87_Human1.01531924
94* STAT3_23295773_ChIP-Seq_U87_Human1.01367934
95CTCF_27219007_Chip-Seq_Bcells_Human1.01218377
96* BCAT_22108803_ChIP-Seq_LS180_Human1.01216693
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.00862020
98GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98662481
99ESR2_21235772_ChIP-Seq_MCF-7_Human0.98391390
100TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97811076
101* P300_19829295_ChIP-Seq_ESCs_Human0.97543311
102STAT3_18555785_ChIP-Seq_MESCs_Mouse0.97367164
103RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96606635
104SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96147267
105* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94704542
106* SOX9_26525672_Chip-Seq_HEART_Mouse0.94596578
107HTT_18923047_ChIP-ChIP_STHdh_Human0.94469699
108SMAD_19615063_ChIP-ChIP_OVARY_Human0.94049823
109* PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.93444639
110SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93251507
111* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93203576
112KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92478573
113FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92087877
114TOP2B_26459242_ChIP-Seq_MCF-7_Human0.91483673
115YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91202411
116E2F1_18555785_Chip-Seq_ESCs_Mouse0.90791672
117GF1_26923725_Chip-Seq_HPCs_Mouse0.90570490
118UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90453320
119GATA2_21666600_ChIP-Seq_HMVEC_Human0.90312920
120WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.89917330
121KDM2B_26808549_Chip-Seq_K562_Human0.88818522
122AR_25329375_ChIP-Seq_VCAP_Human0.88247243
123* TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.87474592
124DNAJC2_21179169_ChIP-ChIP_NT2_Human0.85708562
125DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.83391328
126CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.83180744
127VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.81977755
128SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80899766
129* TBL1_22424771_ChIP-Seq_293T_Human0.79987669

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.45463915
2MP0004084_abnormal_cardiac_muscle5.56402844
3* MP0004215_abnormal_myocardial_fiber4.88212539
4MP0000751_myopathy4.84330652
5MP0003646_muscle_fatigue4.77534528
6MP0004036_abnormal_muscle_relaxation3.95207109
7* MP0005330_cardiomyopathy3.43420308
8MP0000749_muscle_degeneration3.38451288
9MP0003137_abnormal_impulse_conducting3.17744468
10MP0008775_abnormal_heart_ventricle3.01259236
11* MP0002972_abnormal_cardiac_muscle2.96104587
12MP0004087_abnormal_muscle_fiber2.74462421
13* MP0005620_abnormal_muscle_contractility2.51859741
14MP0004859_abnormal_synaptic_plasticity2.46685556
15MP0005385_cardiovascular_system_phenoty2.42357715
16MP0001544_abnormal_cardiovascular_syste2.42357715
17* MP0004085_abnormal_heartbeat2.40713559
18MP0004145_abnormal_muscle_electrophysio2.33666017
19* MP0010630_abnormal_cardiac_muscle2.31091762
20MP0006138_congestive_heart_failure2.29545225
21* MP0004484_altered_response_of2.29003129
22MP0004130_abnormal_muscle_cell2.26606340
23MP0000750_abnormal_muscle_regeneration2.21797820
24* MP0002106_abnormal_muscle_physiology2.07439913
25MP0003828_pulmonary_edema2.05486556
26MP0002269_muscular_atrophy2.02664182
27MP0002127_abnormal_cardiovascular_syste1.79562286
28MP0004233_abnormal_muscle_weight1.71368555
29* MP0005369_muscle_phenotype1.68764430
30MP0000747_muscle_weakness1.68653803
31MP0003221_abnormal_cardiomyocyte_apopto1.66865144
32MP0000759_abnormal_skeletal_muscle1.60737739
33MP0003880_abnormal_central_pattern1.58597628
34MP0003950_abnormal_plasma_membrane1.48549345
35MP0003635_abnormal_synaptic_transmissio1.46994378
36MP0008004_abnormal_stomach_pH1.27089086
37* MP0004510_myositis1.26348649
38MP0009046_muscle_twitch1.26333294
39MP0006036_abnormal_mitochondrial_physio1.17028223
40MP0002332_abnormal_exercise_endurance1.16044059
41* MP0009745_abnormal_behavioral_response1.12496804
42MP0002909_abnormal_adrenal_gland1.11550668
43MP0002822_catalepsy1.09238026
44MP0002063_abnormal_learning/memory/cond1.07595813
45MP0004270_analgesia1.04748712
46* MP0002064_seizures1.02990657
47MP0003567_abnormal_fetal_cardiomyocyte1.02182401
48MP0005623_abnormal_meninges_morphology1.01762696
49MP0002234_abnormal_pharynx_morphology1.01732951
50MP0010368_abnormal_lymphatic_system1.01290333
51MP0002735_abnormal_chemical_nociception1.00940003
52MP0005386_behavior/neurological_phenoty0.99717369
53MP0004924_abnormal_behavior0.99717369
54* MP0000266_abnormal_heart_morphology0.98823078
55MP0009780_abnormal_chondrocyte_physiolo0.98522132
56MP0001661_extended_life_span0.97626703
57MP0005670_abnormal_white_adipose0.97394597
58MP0005666_abnormal_adipose_tissue0.96363987
59MP0001984_abnormal_olfaction0.96287055
60* MP0002272_abnormal_nervous_system0.96234436
61MP0006035_abnormal_mitochondrial_morpho0.93691781
62MP0008569_lethality_at_weaning0.90775269
63MP0002572_abnormal_emotion/affect_behav0.88333921
64MP0001486_abnormal_startle_reflex0.84433252
65MP0001440_abnormal_grooming_behavior0.82981844
66MP0000230_abnormal_systemic_arterial0.79808426
67* MP0005165_increased_susceptibility_to0.79033427
68MP0003045_fibrosis0.77429471
69MP0002067_abnormal_sensory_capabilities0.76573353
70MP0003279_aneurysm0.75119024
71MP0001968_abnormal_touch/_nociception0.74550958
72MP0004043_abnormal_pH_regulation0.71014272
73MP0002108_abnormal_muscle_morphology0.69204708
74MP0002128_abnormal_blood_circulation0.65537898
75MP0005375_adipose_tissue_phenotype0.65260232
76MP0002734_abnormal_mechanical_nocicepti0.64955813
77MP0005187_abnormal_penis_morphology0.64062632
78MP0003633_abnormal_nervous_system0.59681846
79MP0002638_abnormal_pupillary_reflex0.59107264
80MP0001970_abnormal_pain_threshold0.58386608
81MP0004858_abnormal_nervous_system0.56595468
82MP0000767_abnormal_smooth_muscle0.56448255
83MP0001501_abnormal_sleep_pattern0.56265888
84MP0008961_abnormal_basal_metabolism0.55703363
85MP0004272_abnormal_basement_membrane0.54958907
86MP0005423_abnormal_somatic_nervous0.54469692
87MP0005535_abnormal_body_temperature0.54435163
88MP0003329_amyloid_beta_deposits0.52388391
89MP0002736_abnormal_nociception_after0.52143177
90MP0005266_abnormal_metabolism0.51666751
91MP0000013_abnormal_adipose_tissue0.51210862
92MP0008874_decreased_physiological_sensi0.51204280
93MP0002066_abnormal_motor_capabilities/c0.50916966
94MP0004185_abnormal_adipocyte_glucose0.48988498
95MP0005595_abnormal_vascular_smooth0.47539040
96MP0001529_abnormal_vocalization0.47110942
97MP0004142_abnormal_muscle_tone0.46485308
98MP0005409_darkened_coat_color0.46357505
99MP0009384_cardiac_valve_regurgitation0.46296117
100MP0003879_abnormal_hair_cell0.45012788
101MP0003566_abnormal_cell_adhesion0.43936863
102MP0004147_increased_porphyrin_level0.43657719
103MP0002184_abnormal_innervation0.43634537
104MP0000003_abnormal_adipose_tissue0.43066688
105MP0000462_abnormal_digestive_system0.42884620
106MP0001784_abnormal_fluid_regulation0.42540893
107MP0004811_abnormal_neuron_physiology0.41694938
108MP0002078_abnormal_glucose_homeostasis0.41231781
109MP0001879_abnormal_lymphatic_vessel0.41149155
110MP0003631_nervous_system_phenotype0.40697743
111MP0002295_abnormal_pulmonary_circulatio0.40365415
112* MP0000343_altered_response_to0.39915134
113MP0000579_abnormal_nail_morphology0.39720884
114MP0005503_abnormal_tendon_morphology0.36885344
115* MP0002925_abnormal_cardiovascular_devel0.36250729
116MP0001299_abnormal_eye_distance/0.36216261
117MP0002102_abnormal_ear_morphology0.35476774
118MP0003690_abnormal_glial_cell0.34130874
119MP0003634_abnormal_glial_cell0.32774529
120MP0002090_abnormal_vision0.32378405
121MP0001614_abnormal_blood_vessel0.30242102
122MP0002133_abnormal_respiratory_system0.29918138
123MP0005388_respiratory_system_phenotype0.29918138

Predicted human phenotypes

RankGene SetZ-score
1* Sudden death (HP:0001699)8.47756118
2* Atrial fibrillation (HP:0005110)6.57578654
3* Primary atrial arrhythmia (HP:0001692)6.18181028
4* Ventricular tachycardia (HP:0004756)6.10490808
5Calf muscle hypertrophy (HP:0008981)6.08705236
6* Supraventricular tachycardia (HP:0004755)5.93909326
7* Supraventricular arrhythmia (HP:0005115)5.80763989
8* Syncope (HP:0001279)5.55800604
9Muscle hypertrophy of the lower extremities (HP:0008968)5.47507823
10Abnormality of the calf musculature (HP:0001430)5.29877086
11Lipoatrophy (HP:0100578)5.27483251
12Prolonged QT interval (HP:0001657)5.23518969
13Bundle branch block (HP:0011710)5.23479216
14Muscle fiber splitting (HP:0003555)4.95014058
15Exercise-induced myalgia (HP:0003738)4.84458317
16Exercise-induced muscle cramps (HP:0003710)4.74786470
17Ventricular fibrillation (HP:0001663)4.68848988
18Subaortic stenosis (HP:0001682)4.46651316
19Abnormality of the left ventricular outflow tract (HP:0011103)4.46651316
20Hyporeflexia of lower limbs (HP:0002600)4.37643119
21Dilated cardiomyopathy (HP:0001644)4.36307616
22* Ventricular arrhythmia (HP:0004308)4.26834823
23Palpitations (HP:0001962)4.23068071
24Heart block (HP:0012722)4.22656533
25Atrioventricular block (HP:0001678)4.03682524
26Myoglobinuria (HP:0002913)4.02113348
27Abnormal EKG (HP:0003115)3.99072661
28Abnormal atrioventricular conduction (HP:0005150)3.93330096
29EMG: myopathic abnormalities (HP:0003458)3.80041425
30* Right ventricular cardiomyopathy (HP:0011663)3.57984365
31Asymmetric septal hypertrophy (HP:0001670)3.36937908
32Left ventricular hypertrophy (HP:0001712)3.30418836
33Myotonia (HP:0002486)3.14084141
34Dysmetric saccades (HP:0000641)3.08612209
35Increased connective tissue (HP:0009025)3.00019181
36Difficulty running (HP:0009046)2.89383833
37Focal motor seizures (HP:0011153)2.68661057
38Rhabdomyolysis (HP:0003201)2.64047728
39Palmoplantar keratoderma (HP:0000982)2.61892129
40Difficulty climbing stairs (HP:0003551)2.47128452
41Ketoacidosis (HP:0001993)2.43409689
42Steppage gait (HP:0003376)2.42699365
43Abnormal mitochondria in muscle tissue (HP:0008316)2.40753244
44Pheochromocytoma (HP:0002666)2.39582534
45Testicular atrophy (HP:0000029)2.33044007
46Acute necrotizing encephalopathy (HP:0006965)2.32378593
47Central scotoma (HP:0000603)2.27642465
48Hepatic necrosis (HP:0002605)2.21941708
49Increased variability in muscle fiber diameter (HP:0003557)2.17262863
50Ragged-red muscle fibers (HP:0003200)2.15576577
51* Sudden cardiac death (HP:0001645)2.12093109
52Type 1 muscle fiber predominance (HP:0003803)2.11837309
53Abnormality of the foot musculature (HP:0001436)2.11161756
54Hypoglycemic coma (HP:0001325)2.08502508
55Neuroendocrine neoplasm (HP:0100634)2.08453587
56Bradycardia (HP:0001662)2.06757765
57Scapular winging (HP:0003691)2.00371159
58Progressive macrocephaly (HP:0004481)2.00039939
59Hypoplastic ischia (HP:0003175)1.99444670
60Congestive heart failure (HP:0001635)1.99357495
61Resting tremor (HP:0002322)1.98863142
62Foot dorsiflexor weakness (HP:0009027)1.98564516
63Abnormality of the tricuspid valve (HP:0001702)1.97293258
64Distal lower limb amyotrophy (HP:0008944)1.97005856
65Lower limb amyotrophy (HP:0007210)1.96113761
66Toxemia of pregnancy (HP:0100603)1.95987380
67Hepatocellular necrosis (HP:0001404)1.95922060
68Muscular dystrophy (HP:0003560)1.95779325
69Congenital malformation of the right heart (HP:0011723)1.95767097
70Double outlet right ventricle (HP:0001719)1.95767097
71Distal lower limb muscle weakness (HP:0009053)1.95164278
72Myokymia (HP:0002411)1.94696808
73Hyperalaninemia (HP:0003348)1.93744776
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.93744776
75Abnormality of alanine metabolism (HP:0010916)1.93744776
76Focal seizures (HP:0007359)1.93465062
77Neck muscle weakness (HP:0000467)1.92446165
78Limb-girdle muscle atrophy (HP:0003797)1.92094545
79Areflexia of lower limbs (HP:0002522)1.91554202
80Frequent falls (HP:0002359)1.90843416
81Generalized muscle weakness (HP:0003324)1.89863837
82Acute encephalopathy (HP:0006846)1.88652481
83Skin nodule (HP:0200036)1.87778230
84Hamartoma of the eye (HP:0010568)1.87217287
85EMG: neuropathic changes (HP:0003445)1.85356732
86Mitochondrial inheritance (HP:0001427)1.82737571
87Broad metatarsal (HP:0001783)1.81226941
88Centrally nucleated skeletal muscle fibers (HP:0003687)1.80291016
89Hypoplastic heart (HP:0001961)1.80111758
90Dysdiadochokinesis (HP:0002075)1.79677503
91Hyperinsulinemic hypoglycemia (HP:0000825)1.79452247
92Rimmed vacuoles (HP:0003805)1.78932122
93Neoplasm of the adrenal gland (HP:0100631)1.78847333
94Hypoplastic left heart (HP:0004383)1.78276339
95Conjunctival hamartoma (HP:0100780)1.77274770
96Abnormality of skeletal muscle fiber size (HP:0012084)1.76380231
97Muscle stiffness (HP:0003552)1.76293052
98Large for gestational age (HP:0001520)1.76131783
99Athetosis (HP:0002305)1.75949217
100Increased CSF lactate (HP:0002490)1.75749186
101Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.73918639
102Abnormality of the ischium (HP:0003174)1.73657973
103Increased muscle lipid content (HP:0009058)1.73386210
104Abnormality of dicarboxylic acid metabolism (HP:0010995)1.73345272
105Dicarboxylic aciduria (HP:0003215)1.73345272
106Abnormality of the salivary glands (HP:0010286)1.73156224
107Visual hallucinations (HP:0002367)1.72990671
108Diaphragmatic weakness (HP:0009113)1.72017490
109Cerebral edema (HP:0002181)1.71382167
110Mildly elevated creatine phosphokinase (HP:0008180)1.70679437
111Gowers sign (HP:0003391)1.69222392
112Hip contracture (HP:0003273)1.66480766
113Patent foramen ovale (HP:0001655)1.60778435
114Skin pits (HP:0100276)1.59370862
115Abnormality of the endocardium (HP:0004306)1.58661203
116Childhood onset (HP:0011463)1.57308220
117Increased serum pyruvate (HP:0003542)1.56471092
118Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.54350184
119Abnormality of glycolysis (HP:0004366)1.53648044
120Limb hypertonia (HP:0002509)1.52638343
121Preauricular pit (HP:0004467)1.49926106
122Periauricular skin pits (HP:0100277)1.49926106
123Abnormality of the shoulder girdle musculature (HP:0001435)1.46089404
124Limited hip movement (HP:0008800)1.36033036
125Bicuspid aortic valve (HP:0001647)1.32959137
126Febrile seizures (HP:0002373)1.31626496
127Slow progression (HP:0003677)1.31288674
128Lymphangioma (HP:0100764)1.30793384
129Proximal amyotrophy (HP:0007126)1.30161712
130Atonic seizures (HP:0010819)1.29611315
131Abnormal connection of the cardiac segments (HP:0011545)1.28749943
132Abnormal ventriculo-arterial connection (HP:0011563)1.28749943

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN4.63550370
2LMTK23.80547501
3TTN3.72967842
4PHKG23.44990693
5PHKG13.44990693
6MYLK3.21250613
7DMPK3.15672378
8PDK32.84311032
9PDK42.84311032
10PKN22.29550818
11MUSK2.17879235
12EPHA42.06985378
13NTRK32.06221671
14PIK3CA1.98281813
15STK241.84857189
16PINK11.83687537
17NEK11.79342784
18GRK71.72645264
19NEK91.72018361
20PAK31.65209848
21MAP3K41.62422678
22TIE11.61616065
23PDK21.57409158
24STK381.51687900
25INSRR1.47401668
26TRIB31.43881998
27CDC42BPA1.35830602
28ZAK1.34642535
29FLT31.28035890
30PRKD11.25995888
31* CAMK2D1.25072080
32MAP3K71.22994194
33PAK61.21762412
34CAMK11.21489430
35WNK11.14597205
36WNK41.12084378
37BCKDK1.11386687
38PRKD31.09232770
39CAMK41.08456962
40* CAMK2A1.02547626
41PTK2B1.01819382
42CASK0.99491882
43MAP3K60.99132488
44RIPK10.97301099
45ROCK10.97122142
46ILK0.96760643
47MAPKAPK30.94535047
48MAP3K90.94053541
49EPHA30.90326809
50MAP2K40.87791350
51DAPK20.87059018
52MAPK120.86517150
53PKN10.84289858
54DAPK30.83643035
55MAP2K70.82583510
56PRKAA10.80850839
57MAP3K50.78883203
58MINK10.78336735
59PRPF4B0.76009757
60PRKCE0.73501937
61TGFBR20.72971100
62PRKCH0.72740084
63KSR20.72520230
64LIMK10.72202181
65ROCK20.71843639
66MARK10.71248786
67PRKAA20.70978428
68AKT30.70592584
69CAMKK10.70072826
70TNIK0.62246492
71SGK30.60950277
72PRKACB0.60006839
73PDGFRA0.59262121
74PDK10.59002742
75CAMK2B0.58971809
76PDPK10.58548380
77MAPK70.58090429
78CDK50.57882827
79MAPK40.57780538
80LATS10.57415855
81SGK20.57012631
82SGK10.56986771
83STK390.55768412
84FRK0.53960361
85CAMK2G0.51994666
86NTRK20.51946908
87* PRKACA0.51532545
88STK38L0.51521508
89RET0.51373921
90STK110.51355584
91CAMK1G0.48764887
92UHMK10.47457481
93SGK2230.46010425
94SGK4940.46010425
95STK40.44679167
96MAPK100.44022441
97ITK0.43136848
98MARK20.42003080
99GRK50.41862919
100FER0.40177800
101KSR10.40015882
102* PRKACG0.39955076
103MAP2K10.38677285
104TRPM70.37591785
105CAMKK20.37361253
106MAPK130.37106474
107LATS20.36660684
108* RPS6KA30.36492956
109PLK20.36247069
110* PRKG10.35793724
111RPS6KA60.33955688
112NTRK10.32761602
113PRKCG0.32454569
114ICK0.30796575
115RAF10.29460317
116DAPK10.29246949
117RPS6KL10.28817588
118RPS6KC10.28817588
119RPS6KA10.27617226
120AKT20.25493361
121TAOK10.24469486
122PLK40.23951772
123PRKCB0.19016876
124PDGFRB0.18630121
125FGFR10.18386590

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.35412216
2* Cardiac muscle contraction_Homo sapiens_hsa042603.82490759
3* Dilated cardiomyopathy_Homo sapiens_hsa054143.57680737
4* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.24441072
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.01861951
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.52678166
7* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.29987303
8* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.26087311
9Parkinsons disease_Homo sapiens_hsa050122.07775841
10Oxidative phosphorylation_Homo sapiens_hsa001902.07114501
11Propanoate metabolism_Homo sapiens_hsa006402.06059289
12Alzheimers disease_Homo sapiens_hsa050101.81607249
13Fatty acid degradation_Homo sapiens_hsa000711.77573492
14* Circadian entrainment_Homo sapiens_hsa047131.74340633
15Nicotine addiction_Homo sapiens_hsa050331.70185237
16Carbon metabolism_Homo sapiens_hsa012001.53562153
17Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.53003749
18cGMP-PKG signaling pathway_Homo sapiens_hsa040221.51687086
19* Calcium signaling pathway_Homo sapiens_hsa040201.51622734
20Long-term potentiation_Homo sapiens_hsa047201.51197496
21Glutamatergic synapse_Homo sapiens_hsa047241.44424259
22Olfactory transduction_Homo sapiens_hsa047401.44279863
23Fatty acid metabolism_Homo sapiens_hsa012121.42622811
24Morphine addiction_Homo sapiens_hsa050321.41119214
25Renin secretion_Homo sapiens_hsa049241.38087681
26* Oxytocin signaling pathway_Homo sapiens_hsa049211.36642977
27GABAergic synapse_Homo sapiens_hsa047271.36123184
28Type II diabetes mellitus_Homo sapiens_hsa049301.35677732
29Huntingtons disease_Homo sapiens_hsa050161.33755786
30Gastric acid secretion_Homo sapiens_hsa049711.32985246
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.31179750
32* Insulin secretion_Homo sapiens_hsa049111.30965746
33Salivary secretion_Homo sapiens_hsa049701.29502435
34Amphetamine addiction_Homo sapiens_hsa050311.25438444
35Taste transduction_Homo sapiens_hsa047421.24940415
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.22598147
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21929878
38Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.19832017
39Viral myocarditis_Homo sapiens_hsa054161.16060465
40Cholinergic synapse_Homo sapiens_hsa047251.13976611
41* cAMP signaling pathway_Homo sapiens_hsa040241.12497521
42Glucagon signaling pathway_Homo sapiens_hsa049221.07945321
43Vascular smooth muscle contraction_Homo sapiens_hsa042701.07102089
44Pyruvate metabolism_Homo sapiens_hsa006201.05937890
45Dopaminergic synapse_Homo sapiens_hsa047281.05029749
46Phenylalanine metabolism_Homo sapiens_hsa003600.96295319
47Butanoate metabolism_Homo sapiens_hsa006500.94071942
48Synaptic vesicle cycle_Homo sapiens_hsa047210.93059360
49GnRH signaling pathway_Homo sapiens_hsa049120.88345845
50Insulin resistance_Homo sapiens_hsa049310.81360018
51Insulin signaling pathway_Homo sapiens_hsa049100.80721371
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80310155
53Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79252920
54ECM-receptor interaction_Homo sapiens_hsa045120.79177905
55Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.76749082
56Gap junction_Homo sapiens_hsa045400.76332246
57Adipocytokine signaling pathway_Homo sapiens_hsa049200.76329903
58Serotonergic synapse_Homo sapiens_hsa047260.75094792
59Arginine and proline metabolism_Homo sapiens_hsa003300.72165687
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.71558441
61Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.69395615
62Fatty acid elongation_Homo sapiens_hsa000620.68148589
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.63507004
64Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.62219510
65Thyroid hormone synthesis_Homo sapiens_hsa049180.61929536
66HIF-1 signaling pathway_Homo sapiens_hsa040660.61430430
67Dorso-ventral axis formation_Homo sapiens_hsa043200.61061868
68Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.59727873
69Long-term depression_Homo sapiens_hsa047300.59473925
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.59186746
71Estrogen signaling pathway_Homo sapiens_hsa049150.59080139
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57081937
73Circadian rhythm_Homo sapiens_hsa047100.56759837
74Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56429968
75Lysine degradation_Homo sapiens_hsa003100.56156374
76Focal adhesion_Homo sapiens_hsa045100.55445971
77AMPK signaling pathway_Homo sapiens_hsa041520.54793658
78Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.54713157
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.54037079
80Platelet activation_Homo sapiens_hsa046110.53939849
81PPAR signaling pathway_Homo sapiens_hsa033200.53573624
82Biosynthesis of amino acids_Homo sapiens_hsa012300.52712659
83Arginine biosynthesis_Homo sapiens_hsa002200.52492496
84Amoebiasis_Homo sapiens_hsa051460.52116578
85Mineral absorption_Homo sapiens_hsa049780.51035966
86Cocaine addiction_Homo sapiens_hsa050300.50024383
87* Pancreatic secretion_Homo sapiens_hsa049720.48689473
88Fatty acid biosynthesis_Homo sapiens_hsa000610.48141271
89Melanogenesis_Homo sapiens_hsa049160.47835978
90Tight junction_Homo sapiens_hsa045300.47585317
91Phospholipase D signaling pathway_Homo sapiens_hsa040720.46288652
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.45914213
93Endometrial cancer_Homo sapiens_hsa052130.45701878
94Leukocyte transendothelial migration_Homo sapiens_hsa046700.44720158
95Axon guidance_Homo sapiens_hsa043600.42824394
96Tryptophan metabolism_Homo sapiens_hsa003800.40887471
97Starch and sucrose metabolism_Homo sapiens_hsa005000.40216333
98MAPK signaling pathway_Homo sapiens_hsa040100.38909764
99Ovarian steroidogenesis_Homo sapiens_hsa049130.38672803
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.36775324
101mTOR signaling pathway_Homo sapiens_hsa041500.36737873
102Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35235971
103VEGF signaling pathway_Homo sapiens_hsa043700.35179227
104Glioma_Homo sapiens_hsa052140.34901621
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.32400996
106Bile secretion_Homo sapiens_hsa049760.31951269
107Prion diseases_Homo sapiens_hsa050200.31279800
108Rap1 signaling pathway_Homo sapiens_hsa040150.30001800
109Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29974901
110Adherens junction_Homo sapiens_hsa045200.29751305
111ErbB signaling pathway_Homo sapiens_hsa040120.28894262
112Renal cell carcinoma_Homo sapiens_hsa052110.28311368
113Inositol phosphate metabolism_Homo sapiens_hsa005620.27302404
114Oocyte meiosis_Homo sapiens_hsa041140.27246677
115Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.27010816
116Choline metabolism in cancer_Homo sapiens_hsa052310.24621689
117beta-Alanine metabolism_Homo sapiens_hsa004100.22761422
118Regulation of autophagy_Homo sapiens_hsa041400.22552139

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