MYOM2

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 giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.14608049
2actin-myosin filament sliding (GO:0033275)8.44706167
3muscle filament sliding (GO:0030049)8.44706167
4cardiac myofibril assembly (GO:0055003)7.88370850
5myofibril assembly (GO:0030239)7.69818305
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.63751409
7regulation of skeletal muscle contraction (GO:0014819)7.38010894
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.19865290
9actin-mediated cell contraction (GO:0070252)7.03423894
10negative regulation of potassium ion transmembrane transport (GO:1901380)6.78704813
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.77650298
12sarcoplasmic reticulum calcium ion transport (GO:0070296)6.68425031
13plasma membrane repair (GO:0001778)6.65331681
14cardiac muscle contraction (GO:0060048)6.37528878
15regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.25936131
16regulation of relaxation of muscle (GO:1901077)6.16794608
17tricarboxylic acid cycle (GO:0006099)6.14384429
18cardiac muscle cell development (GO:0055013)5.95231012
19regulation of actin filament-based movement (GO:1903115)5.90618433
20actomyosin structure organization (GO:0031032)5.79211965
21striated muscle contraction (GO:0006941)5.76939652
22cardiac cell development (GO:0055006)5.58764437
23regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.57106079
24regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.56214163
25carnitine shuttle (GO:0006853)5.51429535
26regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.50716603
27regulation of cell communication by electrical coupling (GO:0010649)5.46846360
28skeletal muscle contraction (GO:0003009)5.38910017
29actin filament-based movement (GO:0030048)5.30129920
30regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.24529266
31ventricular cardiac muscle cell action potential (GO:0086005)5.19397492
32cardiac muscle hypertrophy (GO:0003300)5.17216402
33cardiac muscle tissue morphogenesis (GO:0055008)5.10749447
34regulation of sarcomere organization (GO:0060297)5.06682697
35regulation of acyl-CoA biosynthetic process (GO:0050812)5.06025937
36bundle of His cell to Purkinje myocyte communication (GO:0086069)5.03397402
37striated muscle hypertrophy (GO:0014897)4.97782238
38response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.96802849
39adult heart development (GO:0007512)4.92542757
40regulation of striated muscle contraction (GO:0006942)4.90645563
41fatty acid transmembrane transport (GO:1902001)4.75445941
42muscle tissue morphogenesis (GO:0060415)4.69694012
43ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.68648753
44heart trabecula formation (GO:0060347)4.61594840
45heart contraction (GO:0060047)4.59546130
46heart process (GO:0003015)4.59546130
47regulation of coenzyme metabolic process (GO:0051196)4.56538886
48regulation of cofactor metabolic process (GO:0051193)4.56538886
49creatine metabolic process (GO:0006600)4.47566823
50regulation of membrane repolarization (GO:0060306)4.44195387
51muscle hypertrophy (GO:0014896)4.40395590
52skeletal muscle adaptation (GO:0043501)4.26829262
53cell communication involved in cardiac conduction (GO:0086065)4.12798701
54carnitine transmembrane transport (GO:1902603)4.08580886
55* muscle contraction (GO:0006936)4.02476570
56response to inactivity (GO:0014854)4.02073687
57regulation of the force of heart contraction (GO:0002026)3.99648790
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.95901130
59positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.91231626
60striated muscle adaptation (GO:0014888)3.86200870
61skeletal muscle fiber development (GO:0048741)3.85083217
62membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.83804579
63regulation of cardiac muscle contraction (GO:0055117)3.82123305
64striated muscle cell development (GO:0055002)3.81949368
65regulation of cardiac muscle cell contraction (GO:0086004)3.81277387
66response to epinephrine (GO:0071871)3.80595239
67detection of calcium ion (GO:0005513)3.80400603
68cardiac muscle adaptation (GO:0014887)3.80387435
69cardiac muscle hypertrophy in response to stress (GO:0014898)3.80387435
70muscle hypertrophy in response to stress (GO:0003299)3.80387435
71NADH metabolic process (GO:0006734)3.80054050
72regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.76147716
73negative regulation of protein localization to cell surface (GO:2000009)3.75994303
74* muscle system process (GO:0003012)3.75546706
752-oxoglutarate metabolic process (GO:0006103)3.75235990
76regulation of sulfur metabolic process (GO:0042762)3.73884186
77carnitine transport (GO:0015879)3.71301367
78amino-acid betaine transport (GO:0015838)3.71301367
79response to caffeine (GO:0031000)3.69677994
80cardiac muscle cell action potential involved in contraction (GO:0086002)3.69328907
81cardiac muscle cell action potential (GO:0086001)3.69111156
82myotube cell development (GO:0014904)3.69009407
83negative regulation of potassium ion transport (GO:0043267)3.67376833
84mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.64743142
85negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.64230807
86regulation of heart rate (GO:0002027)3.62913437
87mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.62877577
88regulation of ATPase activity (GO:0043462)3.62778285
89regulation of ATP catabolic process (GO:1903289)3.62778285
90muscle adaptation (GO:0043500)3.61261692
91cellular response to epinephrine stimulus (GO:0071872)3.60934790
92regulation of muscle system process (GO:0090257)3.60373091
93regulation of sequestering of triglyceride (GO:0010889)3.58140887
94negative regulation of calcium ion transmembrane transport (GO:1903170)3.57815132
95negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.57815132
96relaxation of cardiac muscle (GO:0055119)3.53898924
97skeletal muscle tissue development (GO:0007519)3.53274241
98regulation of calcium ion transmembrane transporter activity (GO:1901019)3.52860860
99regulation of calcium ion transmembrane transport (GO:1903169)3.52860860
100muscle atrophy (GO:0014889)3.52593793
101response to muscle activity (GO:0014850)3.50907195
102respiratory electron transport chain (GO:0022904)3.47706589
103striated muscle atrophy (GO:0014891)3.45650166
104positive regulation of cation channel activity (GO:2001259)3.44629783
105oxidative phosphorylation (GO:0006119)3.43847222
106muscle cell cellular homeostasis (GO:0046716)3.43438786
107glycogen catabolic process (GO:0005980)3.42972442
108muscle fiber development (GO:0048747)3.39949097
109regulation of muscle contraction (GO:0006937)3.37381350
110electron transport chain (GO:0022900)3.36563393
111cell communication by electrical coupling (GO:0010644)3.35838454
112regulation of heart contraction (GO:0008016)3.34619912
113positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.33379170
114ATP synthesis coupled proton transport (GO:0015986)3.32872902
115energy coupled proton transport, down electrochemical gradient (GO:0015985)3.32872902
116oxygen transport (GO:0015671)3.30389105
117positive regulation of heart rate (GO:0010460)3.29831172
118glycogen biosynthetic process (GO:0005978)3.28090021

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.28671746
2* EP300_21415370_ChIP-Seq_HL-1_Mouse4.47708816
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.17365556
4TBX20_22080862_ChIP-Seq_HEART_Mouse4.06102557
5TBX20_22328084_ChIP-Seq_HEART_Mouse4.06102557
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.00862962
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.85463742
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.33057675
9MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.11469212
10ZNF263_19887448_ChIP-Seq_K562_Human3.02218677
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.93777247
12* ESR1_20079471_ChIP-ChIP_T-47D_Human2.66438543
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.55236138
14* EZH2_22144423_ChIP-Seq_EOC_Human2.42950151
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.28575438
16* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.21125879
17PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.10385179
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.98342227
19EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.89515241
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.87374123
21TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.75441644
22CLOCK_20551151_ChIP-Seq_293T_Human1.75059841
23* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.67378858
24ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.66885596
25PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.65384800
26ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.57088321
27* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.53783970
28VDR_22108803_ChIP-Seq_LS180_Human1.43581743
29NFIB_24661679_ChIP-Seq_LUNG_Mouse1.41961714
30CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.37939896
31ESR1_21235772_ChIP-Seq_MCF-7_Human1.35718459
32ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.31739118
33CTCF_27219007_Chip-Seq_Bcells_Human1.29106508
34PPAR_26484153_Chip-Seq_NCI-H1993_Human1.29051356
35GATA2_21666600_ChIP-Seq_HMVEC_Human1.29016083
36* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.27221195
37TRIM28_21343339_ChIP-Seq_HEK293_Human1.25012254
38* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.23821412
39GBX2_23144817_ChIP-Seq_PC3_Human1.23616693
40DROSHA_22980978_ChIP-Seq_HELA_Human1.18847806
41TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18205176
42RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.17605200
43PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.16133927
44SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13416419
45NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.13405892
46PPARA_22158963_ChIP-Seq_LIVER_Mouse1.13204056
47TP63_22573176_ChIP-Seq_HFKS_Human1.12845545
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.12175239
49PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.12166493
50KDM2B_26808549_Chip-Seq_DND41_Human1.09955803
51* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.09429689
52FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08004387
53PCGF2_27294783_Chip-Seq_NPCs_Mouse1.07906763
54RARB_27405468_Chip-Seq_BRAIN_Mouse1.07108037
55TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05968236
56SMC3_22415368_ChIP-Seq_MEFs_Mouse1.04039972
57CJUN_26792858_Chip-Seq_BT549_Human1.03844853
58MTF2_20144788_ChIP-Seq_MESCs_Mouse1.03624422
59SOX9_24532713_ChIP-Seq_HFSC_Mouse1.02325680
60LXR_22158963_ChIP-Seq_LIVER_Mouse1.01192450
61SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00303862
62GATA1_22025678_ChIP-Seq_K562_Human0.99455037
63IGF1R_20145208_ChIP-Seq_DFB_Human0.99406398
64NR3C1_23031785_ChIP-Seq_PC12_Mouse0.99127634
65GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.98910542
66RUNX1_27514584_Chip-Seq_MCF-7_Human0.98172883
67GATA1_19941826_ChIP-Seq_K562_Human0.98045363
68* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.97075926
69EZH2_27304074_Chip-Seq_ESCs_Mouse0.96990776
70RNF2_18974828_ChIP-Seq_MESCs_Mouse0.96710518
71EZH2_18974828_ChIP-Seq_MESCs_Mouse0.96710518
72SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.96446950
73EZH2_27294783_Chip-Seq_NPCs_Mouse0.96370528
74ZNF274_21170338_ChIP-Seq_K562_Hela0.95757094
75LXR_22292898_ChIP-Seq_THP-1_Human0.95605873
76PCGF2_27294783_Chip-Seq_ESCs_Mouse0.95256897
77ISL1_27105846_Chip-Seq_CPCs_Mouse0.94930693
78MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.94926931
79CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94127885
80AR_21572438_ChIP-Seq_LNCaP_Human0.93924869
81PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.93483225
82ELK3_25401928_ChIP-Seq_HUVEC_Human0.92568401
83ATF3_27146783_Chip-Seq_COLON_Human0.92390622
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91925838
85FOXH1_21741376_ChIP-Seq_ESCs_Human0.91904797
86SMAD3_21741376_ChIP-Seq_HESCs_Human0.91654307
87SMC1_22415368_ChIP-Seq_MEFs_Mouse0.91540565
88P68_20966046_ChIP-Seq_HELA_Human0.91436546
89RACK7_27058665_Chip-Seq_MCF-7_Human0.91355048
90STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.90457432
91LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.90421729
92CTCF_21964334_ChIP-Seq_BJAB-B_Human0.89509910
93HTT_18923047_ChIP-ChIP_STHdh_Human0.89000163
94SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.88302077
95NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.88159577
96GATA2_19941826_ChIP-Seq_K562_Human0.87240864
97CRX_20693478_ChIP-Seq_RETINA_Mouse0.86828345
98SMAD4_21799915_ChIP-Seq_A2780_Human0.86755341
99* OCT4_20526341_ChIP-Seq_ESCs_Human0.86670654
100FOXA2_19822575_ChIP-Seq_HepG2_Human0.86634441
101WT1_25993318_ChIP-Seq_PODOCYTE_Human0.85285355
102GATA1_19941827_ChIP-Seq_MEL86_Mouse0.85124340
103STAT3_1855785_ChIP-Seq_MESCs_Mouse0.84709605
104P63_26484246_Chip-Seq_KERATINOCYTES_Human0.84443006
105GF1_26923725_Chip-Seq_HPCs_Mouse0.83799876
106ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.83207844
107OCT4_21477851_ChIP-Seq_ESCs_Mouse0.83103995
108SPI1_20517297_ChIP-Seq_HL60_Human0.82789141
109NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.82123600
110NRF2_20460467_ChIP-Seq_MEFs_Mouse0.82123600
111PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.81620580
112UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.81496123
113TP53_23651856_ChIP-Seq_MEFs_Mouse0.81232608
114AUTS2_25519132_ChIP-Seq_293T-REX_Human0.80871402
115CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.80226857
116SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.79297749
117SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.78667182
118NR3C1_21868756_ChIP-Seq_MCF10A_Human0.78636106
119SMAD4_21741376_ChIP-Seq_HESCs_Human0.78465353
120WT1_19549856_ChIP-ChIP_CCG9911_Human0.78220171
121CTCF_21964334_Chip-Seq_Bcells_Human0.78029118
122EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.77927975
123GATA1_19941827_ChIP-Seq_MEL_Mouse0.77903157
124PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.77702758
125* SOX2_21211035_ChIP-Seq_LN229_Gbm0.77555583
126GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.77540206
127SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.76320200
128NFE2_27457419_Chip-Seq_LIVER_Mouse0.75795924
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.75692127
130EZH2_27294783_Chip-Seq_ESCs_Mouse0.75463727
131SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.75314008
132YY1_22570637_ChIP-Seq_MALME-3M_Human0.75230778
133WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.75131342
134* MYC_27129775_Chip-Seq_CORNEA_Mouse0.75068510
135CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.74365328
136JARID2_20075857_ChIP-Seq_MESCs_Mouse0.74360260
137ZFP281_18757296_ChIP-ChIP_E14_Mouse0.74199852
138BCL6_27268052_Chip-Seq_Bcells_Human0.73365026
139RXR_22158963_ChIP-Seq_LIVER_Mouse0.73296393
140BCAT_22108803_ChIP-Seq_LS180_Human0.72822004

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.66407406
2MP0003646_muscle_fatigue6.04815716
3MP0000751_myopathy5.50967299
4MP0004084_abnormal_cardiac_muscle5.30772177
5MP0000749_muscle_degeneration4.52299935
6MP0004036_abnormal_muscle_relaxation4.40185340
7MP0004215_abnormal_myocardial_fiber4.31907313
8MP0005330_cardiomyopathy3.61412650
9MP0004145_abnormal_muscle_electrophysio3.38377346
10MP0004087_abnormal_muscle_fiber3.27630713
11MP0000750_abnormal_muscle_regeneration3.00676576
12MP0002106_abnormal_muscle_physiology2.99449619
13MP0005620_abnormal_muscle_contractility2.87603971
14MP0002972_abnormal_cardiac_muscle2.86890398
15MP0004130_abnormal_muscle_cell2.74183337
16MP0002269_muscular_atrophy2.64310977
17MP0008775_abnormal_heart_ventricle2.63256598
18MP0000747_muscle_weakness2.58392865
19MP0003137_abnormal_impulse_conducting2.53390680
20MP0005369_muscle_phenotype2.45345069
21MP0000759_abnormal_skeletal_muscle2.42811604
22MP0010630_abnormal_cardiac_muscle2.41113765
23MP0004484_altered_response_of2.38874320
24MP0001544_abnormal_cardiovascular_syste2.38068561
25MP0005385_cardiovascular_system_phenoty2.38068561
26MP0006138_congestive_heart_failure2.10637998
27MP0003828_pulmonary_edema1.94640864
28MP0004233_abnormal_muscle_weight1.88045146
29MP0004085_abnormal_heartbeat1.81353797
30MP0003221_abnormal_cardiomyocyte_apopto1.76348270
31MP0006036_abnormal_mitochondrial_physio1.70992207
32MP0004510_myositis1.69423206
33MP0002332_abnormal_exercise_endurance1.56080314
34MP0005666_abnormal_adipose_tissue1.47745300
35MP0002127_abnormal_cardiovascular_syste1.44686010
36MP0003950_abnormal_plasma_membrane1.43585200
37MP0004185_abnormal_adipocyte_glucose1.21756859
38MP0005670_abnormal_white_adipose1.21078237
39MP0002108_abnormal_muscle_morphology1.17709937
40MP0000343_altered_response_to1.15314632
41MP0010368_abnormal_lymphatic_system1.12837526
42MP0000266_abnormal_heart_morphology1.05684625
43MP0001661_extended_life_span1.05663919
44MP0003567_abnormal_fetal_cardiomyocyte1.05229059
45MP0000733_abnormal_muscle_development1.04258842
46MP0005375_adipose_tissue_phenotype1.02340518
47MP0002234_abnormal_pharynx_morphology1.01350887
48MP0005165_increased_susceptibility_to0.98921213
49MP0006035_abnormal_mitochondrial_morpho0.93151717
50MP0003279_aneurysm0.91951129
51MP0004270_analgesia0.90188725
52MP0005623_abnormal_meninges_morphology0.85364354
53MP0000230_abnormal_systemic_arterial0.83683509
54MP0005266_abnormal_metabolism0.83598556
55MP0002128_abnormal_blood_circulation0.76467549
56MP0001879_abnormal_lymphatic_vessel0.74477870
57MP0002971_abnormal_brown_adipose0.73682641
58MP0003705_abnormal_hypodermis_morpholog0.68906644
59MP0003566_abnormal_cell_adhesion0.67317399
60MP0000013_abnormal_adipose_tissue0.66717074
61MP0009780_abnormal_chondrocyte_physiolo0.66346916
62MP0005275_abnormal_skin_tensile0.63701526
63MP0000767_abnormal_smooth_muscle0.63297677
64MP0004043_abnormal_pH_regulation0.61615472
65MP0000003_abnormal_adipose_tissue0.61199056
66MP0003806_abnormal_nucleotide_metabolis0.60335636
67MP0004272_abnormal_basement_membrane0.59809632
68MP0008438_abnormal_cutaneous_collagen0.53016016
69MP0005451_abnormal_body_composition0.52450006
70MP0008569_lethality_at_weaning0.51281578
71MP0005187_abnormal_penis_morphology0.50520379
72MP0008961_abnormal_basal_metabolism0.50169136
73MP0004147_increased_porphyrin_level0.46886262
74MP0002078_abnormal_glucose_homeostasis0.46774022
75MP0005319_abnormal_enzyme/_coenzyme0.44724931
76MP0002638_abnormal_pupillary_reflex0.41906846
77MP0002909_abnormal_adrenal_gland0.41899954
78MP0002925_abnormal_cardiovascular_devel0.40747782
79MP0001614_abnormal_blood_vessel0.35892593
80MP0008004_abnormal_stomach_pH0.34777194
81MP0003879_abnormal_hair_cell0.34629674
82MP0001784_abnormal_fluid_regulation0.34258356
83MP0005334_abnormal_fat_pad0.32277523
84MP0000579_abnormal_nail_morphology0.32237665
85MP0003948_abnormal_gas_homeostasis0.31007054
86MP0003045_fibrosis0.30080068
87MP0001984_abnormal_olfaction0.30046413
88MP0009384_cardiac_valve_regurgitation0.28527455
89MP0005376_homeostasis/metabolism_phenot0.28069277
90MP0000372_irregular_coat_pigmentation0.27926033
91MP0005503_abnormal_tendon_morphology0.27733843
92MP0005535_abnormal_body_temperature0.27574149
93MP0002822_catalepsy0.25370033
94MP0003984_embryonic_growth_retardation0.24425070
95MP0009115_abnormal_fat_cell0.24206848
96MP0003941_abnormal_skin_development0.23793872
97MP0002088_abnormal_embryonic_growth/wei0.22935901
98MP0004142_abnormal_muscle_tone0.22505211
99MP0005595_abnormal_vascular_smooth0.21620538
100MP0005386_behavior/neurological_phenoty0.21557474
101MP0004924_abnormal_behavior0.21557474
102MP0009840_abnormal_foam_cell0.21429847
103MP0005167_abnormal_blood-brain_barrier0.20966956
104MP0005166_decreased_susceptibility_to0.20686595
105MP0002118_abnormal_lipid_homeostasis0.19642258
106MP0005452_abnormal_adipose_tissue0.18924298
107MP0001299_abnormal_eye_distance/0.18920526
108MP0008874_decreased_physiological_sensi0.18891215
109MP0005584_abnormal_enzyme/coenzyme_acti0.18443628
110MP0003195_calcinosis0.18419381
111MP0001958_emphysema0.18098675
112MP0001727_abnormal_embryo_implantation0.18030176
113MP0003656_abnormal_erythrocyte_physiolo0.17902322
114MP0001853_heart_inflammation0.17417144
115MP0004134_abnormal_chest_morphology0.15886793
116MP0000249_abnormal_blood_vessel0.15609809
117MP0002066_abnormal_motor_capabilities/c0.15404309
118MP0005332_abnormal_amino_acid0.15352361
119MP0005423_abnormal_somatic_nervous0.15284291
120MP0002877_abnormal_melanocyte_morpholog0.15244769
121MP0000762_abnormal_tongue_morphology0.13314265

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.27674827
2Exercise-induced myalgia (HP:0003738)6.98011182
3Calf muscle hypertrophy (HP:0008981)6.84836540
4Exercise-induced muscle cramps (HP:0003710)6.70546197
5Muscle hypertrophy of the lower extremities (HP:0008968)6.61570913
6Muscle fiber splitting (HP:0003555)6.20463644
7Ventricular tachycardia (HP:0004756)6.11071433
8Abnormality of the calf musculature (HP:0001430)5.42433677
9Hyporeflexia of lower limbs (HP:0002600)5.38000947
10Myoglobinuria (HP:0002913)5.30604539
11Atrial fibrillation (HP:0005110)5.09356004
12Muscle fiber inclusion bodies (HP:0100299)4.83633360
13Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.79211934
14Primary atrial arrhythmia (HP:0001692)4.75388249
15Abnormality of the left ventricular outflow tract (HP:0011103)4.73750074
16Subaortic stenosis (HP:0001682)4.73750074
17Lipoatrophy (HP:0100578)4.69127186
18EMG: myopathic abnormalities (HP:0003458)4.65008931
19Increased connective tissue (HP:0009025)4.59724782
20Supraventricular tachycardia (HP:0004755)4.59292222
21Right ventricular cardiomyopathy (HP:0011663)4.53490778
22Supraventricular arrhythmia (HP:0005115)4.50068139
23Difficulty running (HP:0009046)4.48758144
24Centrally nucleated skeletal muscle fibers (HP:0003687)4.44411532
25Type 1 muscle fiber predominance (HP:0003803)4.17958135
26Rhabdomyolysis (HP:0003201)4.17620092
27Nemaline bodies (HP:0003798)4.12319061
28Bundle branch block (HP:0011710)4.04406581
29Syncope (HP:0001279)4.03742264
30Dilated cardiomyopathy (HP:0001644)4.02823276
31Myotonia (HP:0002486)3.83887974
32Asymmetric septal hypertrophy (HP:0001670)3.81059936
33Palpitations (HP:0001962)3.75700932
34Prolonged QT interval (HP:0001657)3.64408512
35Difficulty climbing stairs (HP:0003551)3.42666160
36Ventricular arrhythmia (HP:0004308)3.41868414
37Heart block (HP:0012722)3.40899564
38Distal arthrogryposis (HP:0005684)3.28284993
39Abnormal atrioventricular conduction (HP:0005150)3.23256780
40Atrioventricular block (HP:0001678)3.23000024
41Muscle stiffness (HP:0003552)3.14102555
42Abnormality of skeletal muscle fiber size (HP:0012084)3.12674953
43Increased variability in muscle fiber diameter (HP:0003557)3.11932419
44Ventricular fibrillation (HP:0001663)3.00907835
45Neck muscle weakness (HP:0000467)2.92087298
46Round ear (HP:0100830)2.91101399
47Myopathic facies (HP:0002058)2.89096008
48Distal lower limb muscle weakness (HP:0009053)2.88826085
49Areflexia of lower limbs (HP:0002522)2.85122390
50Deformed tarsal bones (HP:0008119)2.76366402
51Ragged-red muscle fibers (HP:0003200)2.71780999
52Rimmed vacuoles (HP:0003805)2.57448370
53Abnormal EKG (HP:0003115)2.57063038
54Limb-girdle muscle atrophy (HP:0003797)2.54549184
55Left ventricular hypertrophy (HP:0001712)2.54257762
56Hepatic necrosis (HP:0002605)2.45904013
57Abnormal mitochondria in muscle tissue (HP:0008316)2.36565704
58Ketoacidosis (HP:0001993)2.34124054
59Distal lower limb amyotrophy (HP:0008944)2.34019697
60Hypoplastic ischia (HP:0003175)2.33971586
61Palmoplantar keratoderma (HP:0000982)2.33237184
62Abnormal finger flexion creases (HP:0006143)2.33154581
63Gowers sign (HP:0003391)2.33067409
64Testicular atrophy (HP:0000029)2.33041233
65Generalized muscle weakness (HP:0003324)2.32866012
66Ulnar deviation of the wrist (HP:0003049)2.30878290
67Acute necrotizing encephalopathy (HP:0006965)2.29574739
68Mildly elevated creatine phosphokinase (HP:0008180)2.26212592
69EMG: neuropathic changes (HP:0003445)2.25895481
70Muscular dystrophy (HP:0003560)2.23013964
71Fetal akinesia sequence (HP:0001989)2.19356972
72Weak cry (HP:0001612)2.15825662
73Facial diplegia (HP:0001349)2.15483133
74Lower limb amyotrophy (HP:0007210)2.13917831
75Increased muscle lipid content (HP:0009058)2.12412514
76Hepatocellular necrosis (HP:0001404)2.12198398
77Frequent falls (HP:0002359)2.08595057
78Hypoglycemic coma (HP:0001325)2.08402547
79Abnormality of the shoulder girdle musculature (HP:0001435)2.06211904
80Abnormality of fatty-acid metabolism (HP:0004359)2.05600807
81Abnormality of the ischium (HP:0003174)2.03035573
82Scapular winging (HP:0003691)2.02534577
83Hip contracture (HP:0003273)1.97776410
84Acute encephalopathy (HP:0006846)1.97286032
85Dicarboxylic aciduria (HP:0003215)1.96774459
86Abnormality of dicarboxylic acid metabolism (HP:0010995)1.96774459
87Abnormality of the foot musculature (HP:0001436)1.96104580
88Exercise intolerance (HP:0003546)1.94779645
89Foot dorsiflexor weakness (HP:0009027)1.94167891
90Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.93504651
91Hyperkalemia (HP:0002153)1.92321712
92Waddling gait (HP:0002515)1.91520976
93Abnormality of alanine metabolism (HP:0010916)1.91041796
94Hyperalaninemia (HP:0003348)1.91041796
95Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.91041796
96Conjunctival hamartoma (HP:0100780)1.90081586
97Proximal amyotrophy (HP:0007126)1.89782935
98Fatigable weakness (HP:0003473)1.88573217
99Abnormality of the neuromuscular junction (HP:0003398)1.88573217
100Mitochondrial inheritance (HP:0001427)1.88295680
101Progressive macrocephaly (HP:0004481)1.88051867
102Respiratory insufficiency due to muscle weakness (HP:0002747)1.87987278
103Steppage gait (HP:0003376)1.84759380
104Slender build (HP:0001533)1.84587944
105Increased intramyocellular lipid droplets (HP:0012240)1.84113372
106Absent phalangeal crease (HP:0006109)1.83956945
107Calcaneovalgus deformity (HP:0001848)1.83467234
108Spinal rigidity (HP:0003306)1.83330968
109Limb-girdle muscle weakness (HP:0003325)1.82963690
110Large for gestational age (HP:0001520)1.82122308
111Bulbar palsy (HP:0001283)1.81695004
112Cerebral edema (HP:0002181)1.80864377
113Congestive heart failure (HP:0001635)1.80362165
114Progressive muscle weakness (HP:0003323)1.80224638
115Malignant hyperthermia (HP:0002047)1.80099129
116Abnormality of the calcaneus (HP:0008364)1.69363180
117Sudden cardiac death (HP:0001645)1.60873584
118Dysmetric saccades (HP:0000641)1.45635055
119Type 2 muscle fiber atrophy (HP:0003554)1.42151356
120Popliteal pterygium (HP:0009756)1.39070494
121Abnormality of the musculature of the pelvis (HP:0001469)1.37794281
122Abnormality of the hip-girdle musculature (HP:0001445)1.37794281

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.53321118
2OBSCN5.44234218
3PHKG14.70071066
4PHKG24.70071066
5PDK33.32564445
6PDK43.32564445
7LMTK23.10487018
8MYLK2.95732649
9DMPK2.91039461
10TRIB32.57135308
11MUSK2.39064976
12PKN22.30888026
13NEK12.26204914
14BCKDK2.23148178
15PINK12.21914323
16PIK3CA2.19377140
17TIE12.17538532
18PDK22.11310075
19STK241.65049286
20MAP2K31.40452371
21MARK11.36155836
22MAP3K71.35478525
23NME11.35467408
24GRK71.30541037
25PIK3CG1.24788854
26MAPK121.20181838
27PRKD11.12668535
28PAK31.09126208
29CAMK2D1.08659628
30WNK41.06543141
31ZAK1.02390356
32ILK1.01913054
33MAPKAPK30.96627692
34LIMK10.96364340
35TRPM70.94401281
36ROCK10.91083683
37PRKAA10.89054635
38PRKAA20.86913873
39EEF2K0.82528795
40INSRR0.81959570
41MAP3K50.74545033
42STK38L0.74465120
43RIPK10.74363039
44TGFBR20.72818752
45PKN10.71939952
46CCNB10.70466036
47STK40.69913865
48EPHB10.69739557
49MAP3K30.68105830
50MAP3K60.67614932
51KDR0.64070349
52PDGFRA0.63568584
53NEK90.62824720
54MOS0.62402237
55CAMK40.61169585
56CDC42BPA0.58119012
57FLT30.56192337
58CAMK2B0.55918863
59ROCK20.53290553
60KSR20.52851811
61ERBB30.52359948
62CAMK2A0.48699254
63PRKACB0.47507579
64WNK10.47302565
65STK380.45961110
66EPHB20.45569023
67STK390.44524218
68CAMK2G0.42664617
69DYRK1B0.42361981
70RPS6KC10.41389083
71RPS6KL10.41389083
72AKT20.41102521
73LATS10.40914247
74SGK20.39728760
75MAP2K60.37013000
76MAP2K40.36531743
77DAPK30.36457080
78SIK10.35616636
79PDPK10.35438582
80CAMK10.35326538
81RPS6KA60.34674299
82* PRKACA0.34643243
83PRKCE0.33159488
84PRKACG0.32246224
85PTK2B0.31845326
86MARK20.30974739
87PTK60.29840145
88STK110.29343440
89NLK0.28603558
90TBK10.26396252
91ICK0.26303751
92PDK10.24793631
93MAP3K130.24147088
94MAPK100.23379718
95PRKCH0.23344305
96LATS20.22846211
97MAPK110.22100875
98BLK0.22014317
99PRPF4B0.21372535
100PRKG10.21066902
101RPS6KA10.21050751
102FER0.20613896
103SGK10.20535354
104MAPK70.20168086
105DAPK20.20155147
106JAK10.20059622
107ZAP700.19951701
108SGK30.19013888
109FGFR40.18715571
110SGK2230.18581791
111SGK4940.18581791
112UHMK10.18372784
113MTOR0.17457473
114RPS6KA30.16189150
115FGFR30.14141375
116TAOK10.13634138
117EPHA30.13279669
118MARK30.12047001
119LRRK20.11228168
120MAP3K110.10915607
121MAP3K10.10555255
122RET0.09156266
123RPS6KA20.06696987
124MAPK40.06501418
125TGFBR10.06233919
126MAP2K10.05810537

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.81763093
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.27194788
3Cardiac muscle contraction_Homo sapiens_hsa042604.15867676
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.07502584
5Dilated cardiomyopathy_Homo sapiens_hsa054144.03387466
6Propanoate metabolism_Homo sapiens_hsa006403.21239104
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.19108589
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.03048552
9Parkinsons disease_Homo sapiens_hsa050122.81962968
10Fatty acid degradation_Homo sapiens_hsa000712.81933600
11Oxidative phosphorylation_Homo sapiens_hsa001902.69826561
12Carbon metabolism_Homo sapiens_hsa012002.41379684
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.21860043
14Alzheimers disease_Homo sapiens_hsa050102.15024197
15Fatty acid metabolism_Homo sapiens_hsa012122.09892670
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.98245589
17Viral myocarditis_Homo sapiens_hsa054161.85121990
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.73556407
19Huntingtons disease_Homo sapiens_hsa050161.67334801
20Pyruvate metabolism_Homo sapiens_hsa006201.67273018
21Starch and sucrose metabolism_Homo sapiens_hsa005001.33522008
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.29578661
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.26369470
24Insulin resistance_Homo sapiens_hsa049311.25065738
25Butanoate metabolism_Homo sapiens_hsa006501.21028299
26Fatty acid elongation_Homo sapiens_hsa000621.19800456
27Glucagon signaling pathway_Homo sapiens_hsa049221.18074027
28Adipocytokine signaling pathway_Homo sapiens_hsa049201.12691234
29Insulin signaling pathway_Homo sapiens_hsa049101.10421232
30Biosynthesis of amino acids_Homo sapiens_hsa012301.06394980
31cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06031673
32PPAR signaling pathway_Homo sapiens_hsa033200.99268890
33Focal adhesion_Homo sapiens_hsa045100.93639089
34Calcium signaling pathway_Homo sapiens_hsa040200.92725284
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91200752
36Oxytocin signaling pathway_Homo sapiens_hsa049210.88723271
37AMPK signaling pathway_Homo sapiens_hsa041520.83360137
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.82727552
39Lysine degradation_Homo sapiens_hsa003100.75620376
40beta-Alanine metabolism_Homo sapiens_hsa004100.75555651
41Arginine and proline metabolism_Homo sapiens_hsa003300.75435816
42ECM-receptor interaction_Homo sapiens_hsa045120.73658269
43HIF-1 signaling pathway_Homo sapiens_hsa040660.71637964
44Tryptophan metabolism_Homo sapiens_hsa003800.70809528
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.70545626
46Tight junction_Homo sapiens_hsa045300.68634425
47Galactose metabolism_Homo sapiens_hsa000520.68286111
48Circadian rhythm_Homo sapiens_hsa047100.66465587
49Arginine biosynthesis_Homo sapiens_hsa002200.65576988
50Long-term potentiation_Homo sapiens_hsa047200.63352533
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.61921958
52Type II diabetes mellitus_Homo sapiens_hsa049300.56763026
53Salivary secretion_Homo sapiens_hsa049700.52351635
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.52133394
55Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49933620
56Fatty acid biosynthesis_Homo sapiens_hsa000610.49663922
57Fructose and mannose metabolism_Homo sapiens_hsa000510.49661511
58Gastric acid secretion_Homo sapiens_hsa049710.49347104
59Amoebiasis_Homo sapiens_hsa051460.48597881
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48578566
61Renin secretion_Homo sapiens_hsa049240.48030067
62Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47975521
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47936843
64Adherens junction_Homo sapiens_hsa045200.46696508
65Central carbon metabolism in cancer_Homo sapiens_hsa052300.45914658
66Phenylalanine metabolism_Homo sapiens_hsa003600.43004642
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42612288
68Peroxisome_Homo sapiens_hsa041460.42086688
69Amphetamine addiction_Homo sapiens_hsa050310.40113354
70cAMP signaling pathway_Homo sapiens_hsa040240.39122606
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38277480
72Insulin secretion_Homo sapiens_hsa049110.35994357
73Regulation of autophagy_Homo sapiens_hsa041400.34663017
74Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32998898
75Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.32762771
76Bile secretion_Homo sapiens_hsa049760.32686351
77Nitrogen metabolism_Homo sapiens_hsa009100.30533425
78Melanogenesis_Homo sapiens_hsa049160.28416690
79Platelet activation_Homo sapiens_hsa046110.26914987
80Leukocyte transendothelial migration_Homo sapiens_hsa046700.26754197
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25852784
82GABAergic synapse_Homo sapiens_hsa047270.24845088
83VEGF signaling pathway_Homo sapiens_hsa043700.24137155
84Renal cell carcinoma_Homo sapiens_hsa052110.24126689
85Morphine addiction_Homo sapiens_hsa050320.24028078
86GnRH signaling pathway_Homo sapiens_hsa049120.23257647
87Proteoglycans in cancer_Homo sapiens_hsa052050.23102432
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.23063592
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20631653
90FoxO signaling pathway_Homo sapiens_hsa040680.19185291
91Metabolic pathways_Homo sapiens_hsa011000.18918762
92mTOR signaling pathway_Homo sapiens_hsa041500.18897668
93Olfactory transduction_Homo sapiens_hsa047400.18761335
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.16800469
95ABC transporters_Homo sapiens_hsa020100.16454755
96Circadian entrainment_Homo sapiens_hsa047130.16095118
97Ovarian steroidogenesis_Homo sapiens_hsa049130.15611147
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.15341970
99Dorso-ventral axis formation_Homo sapiens_hsa043200.15051369
100Small cell lung cancer_Homo sapiens_hsa052220.14591292
101MAPK signaling pathway_Homo sapiens_hsa040100.11095432
102Dopaminergic synapse_Homo sapiens_hsa047280.09962378
103Estrogen signaling pathway_Homo sapiens_hsa049150.09771137
104Sulfur relay system_Homo sapiens_hsa041220.09467139
105Pancreatic secretion_Homo sapiens_hsa049720.08928396
106Toxoplasmosis_Homo sapiens_hsa051450.08156164
107Gap junction_Homo sapiens_hsa045400.07557760
108Cysteine and methionine metabolism_Homo sapiens_hsa002700.06868818
109Tyrosine metabolism_Homo sapiens_hsa003500.06589121
110Cholinergic synapse_Homo sapiens_hsa047250.06062257
111Pentose phosphate pathway_Homo sapiens_hsa000300.05581830
112Notch signaling pathway_Homo sapiens_hsa043300.05241957
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.04774078
114Fat digestion and absorption_Homo sapiens_hsa049750.03533697
115Protein digestion and absorption_Homo sapiens_hsa049740.03230096
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.01456673
117Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.01409395
118Glycerolipid metabolism_Homo sapiens_hsa00561-0.0173808

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