MYH2

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: Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)8.61807181
2skeletal muscle fiber development (GO:0048741)8.31394635
3* actin filament-based movement (GO:0030048)8.01523606
4myotube cell development (GO:0014904)7.04576729
5striated muscle contraction (GO:0006941)6.85785248
6pyrimidine ribonucleoside catabolic process (GO:0046133)6.65943148
7cytidine deamination (GO:0009972)6.56739731
8cytidine metabolic process (GO:0046087)6.56739731
9cytidine catabolic process (GO:0006216)6.56739731
10sarcomere organization (GO:0045214)6.51812635
11positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.34789311
12creatine metabolic process (GO:0006600)6.20240530
13skeletal muscle tissue regeneration (GO:0043403)6.08276070
14myofibril assembly (GO:0030239)5.98018271
15negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.94676501
16* muscle contraction (GO:0006936)5.76792170
17response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.74882724
18* plasma membrane repair (GO:0001778)5.67470061
19carnitine shuttle (GO:0006853)5.64971029
20glycogen catabolic process (GO:0005980)5.42432466
21regulation of cell communication by electrical coupling (GO:0010649)5.42142054
22response to muscle activity (GO:0014850)5.34959556
23regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.30818438
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.27341057
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.18043102
26NADH metabolic process (GO:0006734)5.14789329
27muscle fiber development (GO:0048747)5.11825187
28* muscle system process (GO:0003012)5.08952615
29response to inactivity (GO:0014854)5.07666371
30glucan catabolic process (GO:0009251)5.07540158
31purine nucleotide salvage (GO:0032261)4.98896917
32glucan biosynthetic process (GO:0009250)4.88893972
33glycogen biosynthetic process (GO:0005978)4.88893972
34regulation of acyl-CoA biosynthetic process (GO:0050812)4.85306826
35fatty acid transmembrane transport (GO:1902001)4.83710971
36striated muscle adaptation (GO:0014888)4.81216755
37fructose metabolic process (GO:0006000)4.72951287
38regulation of actin filament-based movement (GO:1903115)4.71835463
39cellular polysaccharide catabolic process (GO:0044247)4.71715327
40actomyosin structure organization (GO:0031032)4.67070201
41striated muscle atrophy (GO:0014891)4.61836660
42negative regulation of potassium ion transmembrane transport (GO:1901380)4.59849545
43cardiac muscle hypertrophy (GO:0003300)4.55285823
44polysaccharide catabolic process (GO:0000272)4.49741137
45positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.40864624
46regulation of cofactor metabolic process (GO:0051193)4.38592825
47regulation of coenzyme metabolic process (GO:0051196)4.38592825
48IMP metabolic process (GO:0046040)4.35992524
49striated muscle hypertrophy (GO:0014897)4.34708092
50regulation of relaxation of muscle (GO:1901077)4.31765426
51gluconeogenesis (GO:0006094)4.26317842
52muscle cell fate commitment (GO:0042693)4.21489554
53tricarboxylic acid cycle (GO:0006099)4.20283343
54carnitine transmembrane transport (GO:1902603)4.19543058
55regulation of skeletal muscle cell differentiation (GO:2001014)4.19500469
56regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.19267401
57regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.15269658
58glycogen metabolic process (GO:0005977)4.00984525
59muscle atrophy (GO:0014889)4.00143846
60muscle organ development (GO:0007517)3.99050291
61muscle cell cellular homeostasis (GO:0046716)3.96708247
62muscle structure development (GO:0061061)3.94273387
63cellular glucan metabolic process (GO:0006073)3.92918073
64glucan metabolic process (GO:0044042)3.92918073
65muscle adaptation (GO:0043500)3.90907933
66muscle hypertrophy (GO:0014896)3.88381143
67striated muscle cell development (GO:0055002)3.86355478
68skeletal muscle tissue development (GO:0007519)3.86070595
69cardiac muscle contraction (GO:0060048)3.85222587
70muscle organ morphogenesis (GO:0048644)3.84908957
71amino-acid betaine transport (GO:0015838)3.83398283
72carnitine transport (GO:0015879)3.83398283
73hexose biosynthetic process (GO:0019319)3.81673860
74muscle tissue morphogenesis (GO:0060415)3.80046573
75positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.78166936
76myotube differentiation (GO:0014902)3.75149424
77neuronal action potential propagation (GO:0019227)3.73933373
78regulation of myoblast differentiation (GO:0045661)3.69365943
79negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.64888036
80negative regulation of calcium ion transmembrane transport (GO:1903170)3.64888036
81negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.62935649
82negative regulation of muscle hypertrophy (GO:0014741)3.62697291
83regulation of sulfur metabolic process (GO:0042762)3.60733566
84adult heart development (GO:0007512)3.57864438
85cardiac myofibril assembly (GO:0055003)3.57503321
86cellular carbohydrate catabolic process (GO:0044275)3.57361070
87positive regulation of myotube differentiation (GO:0010831)3.54701361
88cardiac muscle tissue morphogenesis (GO:0055008)3.53537609
89negative regulation of cAMP-mediated signaling (GO:0043951)3.48641097
90myoblast fusion (GO:0007520)3.42621873
91ubiquinone biosynthetic process (GO:0006744)3.41942973
92striated muscle tissue development (GO:0014706)3.38642592
93regulation of calcium ion transmembrane transporter activity (GO:1901019)3.37780960
94regulation of calcium ion transmembrane transport (GO:1903169)3.37780960
95neuromuscular synaptic transmission (GO:0007274)3.36896524
96cardiac muscle adaptation (GO:0014887)3.36893956
97cardiac muscle hypertrophy in response to stress (GO:0014898)3.36893956
98muscle hypertrophy in response to stress (GO:0003299)3.36893956
99negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.32211546
100negative regulation of protein localization to cell surface (GO:2000009)3.32018294
101negative regulation of muscle contraction (GO:0045932)3.29427751
102muscle cell development (GO:0055001)3.28644358
103relaxation of muscle (GO:0090075)3.28425940
104succinate metabolic process (GO:0006105)3.25604189
105IMP biosynthetic process (GO:0006188)3.24477423
106heart contraction (GO:0060047)3.24117484
107heart process (GO:0003015)3.24117484
108monosaccharide biosynthetic process (GO:0046364)3.24054607
109regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.23621734
110negative regulation of skeletal muscle tissue development (GO:0048642)3.23520763
111oxaloacetate metabolic process (GO:0006107)3.20932166
112regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.19857878
113regulation of striated muscle contraction (GO:0006942)3.14918517
114skeletal muscle cell differentiation (GO:0035914)3.14422014
115neuromuscular junction development (GO:0007528)3.13922605
116cardiac muscle cell development (GO:0055013)3.07456629
117positive regulation of myoblast differentiation (GO:0045663)3.07077663
118syncytium formation (GO:0006949)3.06288270
119* response to activity (GO:0014823)3.05451463
1202-oxoglutarate metabolic process (GO:0006103)3.05240119
121syncytium formation by plasma membrane fusion (GO:0000768)3.04598233
122regulation of membrane repolarization (GO:0060306)3.03676448
123* muscle filament sliding (GO:0030049)13.1971508
124* actin-myosin filament sliding (GO:0033275)13.1971508
125skeletal muscle contraction (GO:0003009)11.8570820
126regulation of skeletal muscle contraction (GO:0014819)11.7382073
127sarcoplasmic reticulum calcium ion transport (GO:0070296)10.8005107
128* actin-mediated cell contraction (GO:0070252)10.7458893

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.68871779
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.68764475
3ESR1_20079471_ChIP-ChIP_T-47D_Human3.59248256
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.47008618
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.39081678
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.94589377
7TBX20_22080862_ChIP-Seq_HEART_Mouse2.78134916
8TBX20_22328084_ChIP-Seq_HEART_Mouse2.78134916
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.52757121
10ZNF263_19887448_ChIP-Seq_K562_Human2.44869320
11PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.36448485
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.11243085
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.02757963
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.99071205
15BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.98039557
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.93388399
17RBPJ_22232070_ChIP-Seq_NCS_Mouse1.90466352
18MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.89940966
19ESR2_21235772_ChIP-Seq_MCF-7_Human1.89851205
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.83769717
21BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.73650630
22EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.70141745
23CTCF_21964334_ChIP-Seq_BJAB-B_Human1.64208183
24CTCF_27219007_Chip-Seq_Bcells_Human1.60928635
25ZNF274_21170338_ChIP-Seq_K562_Hela1.58339941
26AR_21572438_ChIP-Seq_LNCaP_Human1.58075231
27CLOCK_20551151_ChIP-Seq_293T_Human1.56653324
28EP300_21415370_ChIP-Seq_HL-1_Mouse1.56082664
29PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.55769306
30TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.52343805
31CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.50163351
32SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.49696316
33NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.48035843
34CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.47252477
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.44800563
36NFIB_24661679_ChIP-Seq_LUNG_Mouse1.41366517
37FOXH1_21741376_ChIP-Seq_ESCs_Human1.38115325
38P63_26484246_Chip-Seq_KERATINOCYTES_Human1.37217916
39ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.36602036
40PPARA_22158963_ChIP-Seq_LIVER_Mouse1.36365212
41DROSHA_22980978_ChIP-Seq_HELA_Human1.32335436
42SA1_27219007_Chip-Seq_Bcells_Human1.30252338
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25798596
44CTCF_21964334_Chip-Seq_Bcells_Human1.24848910
45LXR_22158963_ChIP-Seq_LIVER_Mouse1.19542164
46EZH2_22144423_ChIP-Seq_EOC_Human1.19232093
47E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.18064072
48STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.15834914
49RACK7_27058665_Chip-Seq_MCF-7_Human1.13135471
50IGF1R_20145208_ChIP-Seq_DFB_Human1.12814610
51SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.12501691
52IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11956687
53CBP_20019798_ChIP-Seq_JUKART_Human1.11956687
54RXR_22158963_ChIP-Seq_LIVER_Mouse1.11613977
55NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.11100222
56RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10594465
57RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09720629
58SMC3_22415368_ChIP-Seq_MEFs_Mouse1.09401714
59SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08727314
60* OCT4_20526341_ChIP-Seq_ESCs_Human1.07704270
61CRX_20693478_ChIP-Seq_RETINA_Mouse1.07433004
62ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06866186
63SMC1_22415368_ChIP-Seq_MEFs_Mouse1.06649286
64UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06441467
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05933179
66NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.05863912
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04995267
68LXR_22292898_ChIP-Seq_THP-1_Human1.04497186
69SPI1_20517297_ChIP-Seq_HL60_Human1.04229985
70KDM2B_26808549_Chip-Seq_DND41_Human1.04129849
71TDRD3_21172665_ChIP-Seq_MCF-7_Human1.04050385
72GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.03395314
73CBX2_27304074_Chip-Seq_ESCs_Mouse1.02903133
74GATA4_21415370_ChIP-Seq_HL-1_Mouse1.02456134
75YY1_22570637_ChIP-Seq_MALME-3M_Human1.02099142
76PCGF2_27294783_Chip-Seq_ESCs_Mouse1.01843677
77NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.01461986
78PPAR_26484153_Chip-Seq_NCI-H1993_Human1.00707833
79KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99420565
80EZH2_27294783_Chip-Seq_NPCs_Mouse0.99149914
81CJUN_26792858_Chip-Seq_BT549_Human0.98947504
82CTCF_27219007_Chip-Seq_ERYTHROID_Human0.98735322
83SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.96952411
84LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.96003952
85P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.95582927
86CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.95405255
87FLI1_27457419_Chip-Seq_LIVER_Mouse0.95175468
88P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94849375
89TP63_22573176_ChIP-Seq_HFKS_Human0.94719302
90P68_20966046_ChIP-Seq_HELA_Human0.94705650
91CREB1_26743006_Chip-Seq_LNCaP_Human0.92962462
92KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.92724091
93ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.91834818
94STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91682612
95RAC3_21632823_ChIP-Seq_H3396_Human0.91608929
96GATA1_19941827_ChIP-Seq_MEL_Mouse0.89978025
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89672787
98NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89672787
99FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.88455329
100STAT3_1855785_ChIP-Seq_MESCs_Mouse0.87973793
101NANOG_20526341_ChIP-Seq_ESCs_Human0.87963295
102* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.87686175
103HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.87396697
104CSB_26484114_Chip-Seq_FIBROBLAST_Human0.87176407
105KLF5_20875108_ChIP-Seq_MESCs_Mouse0.86713000
106P300_27058665_Chip-Seq_ZR-75-30cells_Human0.86695287
107MYC_27129775_Chip-Seq_CORNEA_Mouse0.86621968
108ESR1_15608294_ChIP-ChIP_MCF-7_Human0.86150593
109ATF3_27146783_Chip-Seq_COLON_Human0.85788213
110CEBPB_22108803_ChIP-Seq_LS180_Human0.85164045
111EGR1_19032775_ChIP-ChIP_M12_Human0.84963364
112TP53_20018659_ChIP-ChIP_R1E_Mouse0.84949400
113CBP_21632823_ChIP-Seq_H3396_Human0.84393524
114ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83813517
115EZH2_27294783_Chip-Seq_ESCs_Mouse0.83382905
116MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.83291842
117RARB_27405468_Chip-Seq_BRAIN_Mouse0.83152166
118STAT1_20625510_ChIP-Seq_HELA_Human0.82287331
119E2F1_20622854_ChIP-Seq_HELA_Human0.82242175
120TCF7_22412390_ChIP-Seq_EML_Mouse0.82122510
121WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.81762208
122KLF4_19829295_ChIP-Seq_ESCs_Human0.81754389
123PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.81705520
124KDM2B_26808549_Chip-Seq_SUP-B15_Human0.81641307
125ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.81270091
126DPY_21335234_ChIP-Seq_ESCs_Mouse0.78876318
127GATA6_21074721_ChIP-Seq_CACO-2_Human0.77901442
128TRIM28_21343339_ChIP-Seq_HEK293_Human0.77017309
129SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.75492695
130EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.74882887
131SOX2_21211035_ChIP-Seq_LN229_Gbm0.74772747
132ER_23166858_ChIP-Seq_MCF-7_Human0.74099628
133STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.73614815
134CTCF_26484167_Chip-Seq_Bcells_Mouse0.73152244
135LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.73068332
136HTT_18923047_ChIP-ChIP_STHdh_Human0.70731721
137RAD21_21589869_ChIP-Seq_MESCs_Mouse0.69729076
138CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.69587349
139MTF2_20144788_ChIP-Seq_MESCs_Mouse0.68314185

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.47742366
2MP0000749_muscle_degeneration6.35981676
3MP0003646_muscle_fatigue6.32776995
4MP0000751_myopathy6.04856098
5MP0000747_muscle_weakness4.51512470
6MP0002106_abnormal_muscle_physiology4.17252853
7MP0004036_abnormal_muscle_relaxation3.94822635
8MP0000759_abnormal_skeletal_muscle3.77509822
9MP0002837_dystrophic_cardiac_calcinosis3.76029765
10MP0005369_muscle_phenotype3.49936158
11MP0004087_abnormal_muscle_fiber3.49074816
12MP0002269_muscular_atrophy3.39751484
13MP0000750_abnormal_muscle_regeneration3.26574695
14MP0004130_abnormal_muscle_cell3.21411219
15MP0005620_abnormal_muscle_contractility3.05171823
16MP0004233_abnormal_muscle_weight2.60218794
17MP0000733_abnormal_muscle_development2.51724508
18MP0002332_abnormal_exercise_endurance2.20479707
19MP0005330_cardiomyopathy2.15554602
20MP0002108_abnormal_muscle_morphology2.04508183
21MP0006036_abnormal_mitochondrial_physio1.89199438
22MP0004084_abnormal_cardiac_muscle1.87106493
23MP0004185_abnormal_adipocyte_glucose1.77369206
24MP0004484_altered_response_of1.73652421
25MP0004215_abnormal_myocardial_fiber1.65877098
26MP0005666_abnormal_adipose_tissue1.59264710
27MP0004270_analgesia1.54949865
28MP0000013_abnormal_adipose_tissue1.53359805
29MP0002971_abnormal_brown_adipose1.51542039
30MP0002972_abnormal_cardiac_muscle1.44729651
31MP0010630_abnormal_cardiac_muscle1.31075166
32MP0005375_adipose_tissue_phenotype1.26185591
33MP0003221_abnormal_cardiomyocyte_apopto1.22041950
34MP0003950_abnormal_plasma_membrane1.16588654
35MP0001661_extended_life_span1.08518429
36MP0003806_abnormal_nucleotide_metabolis1.06989284
37MP0005266_abnormal_metabolism1.03902782
38MP0005385_cardiovascular_system_phenoty1.03896281
39MP0001544_abnormal_cardiovascular_syste1.03896281
40MP0002822_catalepsy0.99970983
41MP0002234_abnormal_pharynx_morphology0.91547036
42MP0003705_abnormal_hypodermis_morpholog0.89017219
43MP0006035_abnormal_mitochondrial_morpho0.86647789
44MP0005275_abnormal_skin_tensile0.84159463
45MP0000003_abnormal_adipose_tissue0.83994755
46MP0004134_abnormal_chest_morphology0.78954828
47MP0003137_abnormal_impulse_conducting0.78713064
48MP0000762_abnormal_tongue_morphology0.70433005
49MP0000372_irregular_coat_pigmentation0.68728609
50MP0008961_abnormal_basal_metabolism0.68527502
51MP0001299_abnormal_eye_distance/0.68208608
52MP0008775_abnormal_heart_ventricle0.66129334
53MP0000343_altered_response_to0.65951882
54MP0009250_abnormal_appendicular_skeleto0.62047177
55MP0003879_abnormal_hair_cell0.61048738
56MP0004043_abnormal_pH_regulation0.60205029
57MP0002078_abnormal_glucose_homeostasis0.59351197
58MP0006138_congestive_heart_failure0.58856713
59MP0004147_increased_porphyrin_level0.58605064
60MP0005670_abnormal_white_adipose0.58403158
61MP0003656_abnormal_erythrocyte_physiolo0.57978976
62MP0002127_abnormal_cardiovascular_syste0.54473939
63MP0000266_abnormal_heart_morphology0.54234263
64MP0005334_abnormal_fat_pad0.52703181
65MP0003045_fibrosis0.46917006
66MP0003828_pulmonary_edema0.46321118
67MP0010030_abnormal_orbit_morphology0.45446157
68MP0005452_abnormal_adipose_tissue0.45433629
69MP0005167_abnormal_blood-brain_barrier0.44956759
70MP0000579_abnormal_nail_morphology0.44697687
71MP0001346_abnormal_lacrimal_gland0.43925530
72MP0008569_lethality_at_weaning0.43563879
73MP0005584_abnormal_enzyme/coenzyme_acti0.43271156
74MP0002896_abnormal_bone_mineralization0.42598035
75MP0002638_abnormal_pupillary_reflex0.39585328
76MP0005319_abnormal_enzyme/_coenzyme0.37138697
77MP0004510_myositis0.35980529
78MP0005423_abnormal_somatic_nervous0.35764520
79MP0009672_abnormal_birth_weight0.35553818
80MP0002796_impaired_skin_barrier0.33432542
81MP0005166_decreased_susceptibility_to0.33394383
82MP0002114_abnormal_axial_skeleton0.32070474
83MP0003959_abnormal_lean_body0.31454074
84MP0005451_abnormal_body_composition0.31386487
85MP0002734_abnormal_mechanical_nocicepti0.30776808
86MP0003948_abnormal_gas_homeostasis0.30636120
87MP0000230_abnormal_systemic_arterial0.30634065
88MP0004085_abnormal_heartbeat0.30627438
89MP0008438_abnormal_cutaneous_collagen0.30494108
90MP0005332_abnormal_amino_acid0.29906036
91MP0005083_abnormal_biliary_tract0.29057807
92MP0005535_abnormal_body_temperature0.28977218
93MP0003567_abnormal_fetal_cardiomyocyte0.27287052
94MP0002118_abnormal_lipid_homeostasis0.26633430
95MP0001853_heart_inflammation0.26392062
96MP0009115_abnormal_fat_cell0.26323159
97MP0001243_abnormal_dermal_layer0.25967315
98MP0001849_ear_inflammation0.25676789
99MP0002089_abnormal_postnatal_growth/wei0.24999146
100MP0005187_abnormal_penis_morphology0.24527252
101MP0005376_homeostasis/metabolism_phenot0.23475717
102MP0004858_abnormal_nervous_system0.22393859
103MP0002128_abnormal_blood_circulation0.22156087
104MP0004142_abnormal_muscle_tone0.20904156
105MP0001943_abnormal_respiration0.20781080
106MP0000383_abnormal_hair_follicle0.19861187
107MP0005165_increased_susceptibility_to0.18557954
108MP0005503_abnormal_tendon_morphology0.17124976
109MP0008770_decreased_survivor_rate0.16813715
110MP0009780_abnormal_chondrocyte_physiolo0.15848182
111MP0002066_abnormal_motor_capabilities/c0.15821441
112MP0003011_delayed_dark_adaptation0.15815429
113MP0005645_abnormal_hypothalamus_physiol0.15044499
114MP0002876_abnormal_thyroid_physiology0.14944531
115MP0002067_abnormal_sensory_capabilities0.14615700
116MP0003941_abnormal_skin_development0.13735798
117MP0006276_abnormal_autonomic_nervous0.13367178

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)9.16687123
2Exercise-induced myalgia (HP:0003738)7.72061471
3Distal arthrogryposis (HP:0005684)7.10257948
4Myopathic facies (HP:0002058)6.77083715
5Exercise-induced muscle cramps (HP:0003710)6.75269808
6Muscle hypertrophy of the lower extremities (HP:0008968)6.25286911
7Calf muscle hypertrophy (HP:0008981)5.66613314
8Round ear (HP:0100830)5.65315513
9Ulnar deviation of the wrist (HP:0003049)5.50736650
10Muscle fiber splitting (HP:0003555)5.24921777
11Difficulty running (HP:0009046)5.01545034
12Hyporeflexia of lower limbs (HP:0002600)4.82813943
13Calcaneovalgus deformity (HP:0001848)4.80524715
14EMG: myopathic abnormalities (HP:0003458)4.62864490
15Myoglobinuria (HP:0002913)4.49616647
16Muscle stiffness (HP:0003552)4.41886153
17Absent phalangeal crease (HP:0006109)4.39947130
18Deformed tarsal bones (HP:0008119)4.38043547
19Abnormality of skeletal muscle fiber size (HP:0012084)4.19445237
20Increased connective tissue (HP:0009025)4.17660939
21Abnormality of the calf musculature (HP:0001430)4.00065232
22Neck muscle weakness (HP:0000467)3.98344250
23Rimmed vacuoles (HP:0003805)3.84358551
24Rhabdomyolysis (HP:0003201)3.77115120
25Myotonia (HP:0002486)3.71908766
26Abnormal finger flexion creases (HP:0006143)3.67830621
27Increased variability in muscle fiber diameter (HP:0003557)3.59018144
28Frequent falls (HP:0002359)3.56061289
29Areflexia of lower limbs (HP:0002522)3.23068191
30Subaortic stenosis (HP:0001682)3.22834460
31Abnormality of the left ventricular outflow tract (HP:0011103)3.22834460
32Difficulty climbing stairs (HP:0003551)3.18860336
33Malignant hyperthermia (HP:0002047)3.17583820
34Shoulder girdle muscle weakness (HP:0003547)3.02733911
35Pelvic girdle muscle weakness (HP:0003749)3.02665363
36Abnormality of the hip-girdle musculature (HP:0001445)2.91754096
37Abnormality of the musculature of the pelvis (HP:0001469)2.91754096
38Slender build (HP:0001533)2.90296426
39Progressive muscle weakness (HP:0003323)2.89930348
40Asymmetric septal hypertrophy (HP:0001670)2.88869629
41Abnormality of the calcaneus (HP:0008364)2.88275001
42Distal lower limb muscle weakness (HP:0009053)2.67654681
43Centrally nucleated skeletal muscle fibers (HP:0003687)2.62819658
44Mildly elevated creatine phosphokinase (HP:0008180)2.62262644
45Facial diplegia (HP:0001349)2.60334954
46EMG: neuropathic changes (HP:0003445)2.57023784
47Proximal amyotrophy (HP:0007126)2.56838343
48Hyperkalemia (HP:0002153)2.50575777
49Sudden death (HP:0001699)2.47573812
50Fatigable weakness (HP:0003473)2.46610567
51Abnormality of the neuromuscular junction (HP:0003398)2.46610567
52Hip contracture (HP:0003273)2.46321796
53Spinal rigidity (HP:0003306)2.41760063
54Bulbar palsy (HP:0001283)2.41340361
55Generalized muscle weakness (HP:0003324)2.39488077
56Scapular winging (HP:0003691)2.35465514
57Distal lower limb amyotrophy (HP:0008944)2.28225698
58Weak cry (HP:0001612)2.26259630
59Gowers sign (HP:0003391)2.24639088
60Muscular dystrophy (HP:0003560)2.21640896
61Abnormality of the shoulder girdle musculature (HP:0001435)2.19989998
62Paralysis (HP:0003470)2.17372666
63Limb-girdle muscle weakness (HP:0003325)2.14550606
64Fetal akinesia sequence (HP:0001989)2.12995800
65Limb-girdle muscle atrophy (HP:0003797)2.04103015
66Ulnar deviation of finger (HP:0009465)2.02959883
67Nonprogressive disorder (HP:0003680)2.01680788
68Waddling gait (HP:0002515)2.00749031
69* Muscle fiber inclusion bodies (HP:0100299)11.2779217
70Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)11.2779217
71Nemaline bodies (HP:0003798)11.0351835
72Hypoplastic ischia (HP:0003175)1.90469977
73Achilles tendon contracture (HP:0001771)1.83808003
74Metatarsus adductus (HP:0001840)1.81077130
75Heart block (HP:0012722)1.77926456
76Long clavicles (HP:0000890)1.76710668
77Lower limb amyotrophy (HP:0007210)1.72154656
78Ragged-red muscle fibers (HP:0003200)1.72087195
79Popliteal pterygium (HP:0009756)1.71699793
80Respiratory insufficiency due to muscle weakness (HP:0002747)1.68570203
81Limited hip movement (HP:0008800)1.68364159
82Ventricular tachycardia (HP:0004756)1.68033289
83Abnormality of the Achilles tendon (HP:0005109)1.67812583
84Abnormal atrioventricular conduction (HP:0005150)1.66823277
85Abnormality of the ischium (HP:0003174)1.65901735
86Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.63793377
87Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.60109110
88Increased intramyocellular lipid droplets (HP:0012240)1.59835841
89Congenital hip dislocation (HP:0001374)1.56478811
90Dilated cardiomyopathy (HP:0001644)1.53323279
91Oligomenorrhea (HP:0000876)1.51592297
92Tarsal synostosis (HP:0008368)1.48700309
93Increased muscle lipid content (HP:0009058)1.46847694
94Lipoatrophy (HP:0100578)1.46218300
95Foot dorsiflexor weakness (HP:0009027)1.46155156
96Adducted thumb (HP:0001181)1.45973457
97Muscle fiber atrophy (HP:0100295)1.45771149
98Abnormality of the foot musculature (HP:0001436)1.45548090
99Ventricular arrhythmia (HP:0004308)1.44751901
100Bundle branch block (HP:0011710)1.33674852
101Cholelithiasis (HP:0001081)1.33454046
102Type 2 muscle fiber atrophy (HP:0003554)1.33285810
103Synostosis involving bones of the lower limbs (HP:0009138)1.33137163
104Synostosis involving bones of the feet (HP:0009140)1.33137163
105Steppage gait (HP:0003376)1.32706282
106Short palpebral fissure (HP:0012745)1.31716304
107Stridor (HP:0010307)1.28136516
108Insulin-resistant diabetes mellitus (HP:0000831)1.28040370
109Easy fatigability (HP:0003388)1.27161871
110Abnormality of potassium homeostasis (HP:0011042)1.26244511
111Exercise intolerance (HP:0003546)1.25639102
112Abnormality of placental membranes (HP:0011409)1.25100383
113Amniotic constriction ring (HP:0009775)1.25100383
114Increased density of long bones (HP:0006392)1.22625510

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN7.75626983
2PIK3CG5.65785186
3PHKG15.19148631
4PHKG25.19148631
5NME14.29933562
6MAP2K33.33639417
7* OBSCN3.18436528
8NEK12.70943486
9MAP3K72.59033647
10PDK32.53066658
11PDK42.53066658
12PINK12.49350128
13DMPK2.40329700
14MUSK2.13579692
15TRIB32.08990263
16MAPK121.93045806
17MAP2K41.79584685
18PDK21.69357017
19BCKDK1.69356850
20MAP2K61.52634613
21PIK3CA1.39615987
22MAP3K31.32029133
23PKN21.07739265
24MARK11.05636608
25AKT21.00173441
26TAOK20.96141733
27MAPKAPK30.94162168
28PRKAA20.82985707
29MAPK110.81573009
30PRKAA10.81506863
31NEK90.79345357
32TAOK10.78493654
33MAP3K130.76871251
34ERBB30.73323131
35LIMK10.72958329
36CAMK2G0.71970249
37EPHB10.69112940
38MAP3K110.66761629
39ZAK0.65527931
40CAMK40.64836589
41TRPM70.61789858
42RIPK10.56534513
43STK240.51979930
44ILK0.47140727
45CAMK10.44682175
46CAMK2B0.43630673
47PTK60.42032328
48PKN10.39714470
49SIK10.38970036
50SGK10.38598086
51ROCK10.38041014
52TIE10.37512957
53TBK10.36868368
54EEF2K0.35928728
55PRKG10.35829507
56MAP3K60.34978020
57KSR20.34072428
58SGK20.33852047
59PRKACB0.31691444
60RPS6KB10.30828078
61MAPK40.30390573
62MAP3K50.30118748
63MAPK130.29056344
64MAP3K10.28247295
65RPS6KA30.28193414
66CDK190.25864937
67PRPF4B0.25209815
68PDPK10.25108831
69PRKD10.24866712
70MAP2K10.24169696
71PAK60.22445995
72PRKACA0.22260223
73MAPK70.21695219
74LATS10.21401154
75PDK10.21318060
76RPS6KB20.20964658
77MOS0.20615235
78ARAF0.20204490
79DAPK20.20072780
80TGFBR20.20067925
81INSRR0.19587587
82LATS20.19282397
83ICK0.19102622
84CAMK2D0.17170520
85FLT30.16139773
86MARK20.15997428
87CAMK1G0.14467886
88RPS6KL10.14186066
89RPS6KC10.14186066
90ZAP700.13859810
91BMX0.13842545
92SGK2230.13372959
93SGK4940.13372959
94DYRK1B0.12934342
95LRRK20.12609124
96ERN10.11770089
97RAF10.11009994
98MARK30.10394567
99RPS6KA60.10086726
100FGFR10.09950048
101MAPK100.09297720
102PDGFRA0.09115224
103FER0.08997903
104TYK20.08101665
105JAK20.07680925
106GSK3A0.07500475
107PTK2B0.07242156
108BRAF0.07144958
109NLK0.06495185
110CCNB10.06486320
111RET0.06004506
112CSNK1D0.05757798
113CAMK2A0.05532158
114SGK30.05392538
115PRKACG0.05227448
116MTOR0.04409088
117KSR10.04223707
118MAPK80.04168268
119ROCK20.04080686
120GSK3B0.03345622
121MST1R0.03274301
122FGFR30.03030613
123MAPK30.02776187
124STK380.02690506
125RPS6KA10.02614208
126STK110.02391738
127PRKCH0.01662187
128MAP3K100.01353401
129MAPK90.00987968

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.72563732
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.15015700
3Cardiac muscle contraction_Homo sapiens_hsa042603.80364466
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.67012820
5Dilated cardiomyopathy_Homo sapiens_hsa054143.52778467
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.43442036
7Starch and sucrose metabolism_Homo sapiens_hsa005002.79325108
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.78196212
9Propanoate metabolism_Homo sapiens_hsa006402.62326225
10Carbon metabolism_Homo sapiens_hsa012002.24621203
11Glucagon signaling pathway_Homo sapiens_hsa049222.10120552
12Oxytocin signaling pathway_Homo sapiens_hsa049212.02018135
13Insulin signaling pathway_Homo sapiens_hsa049102.01107167
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.90469992
15Insulin resistance_Homo sapiens_hsa049311.90081564
16Fatty acid degradation_Homo sapiens_hsa000711.87104210
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.81136603
18Parkinsons disease_Homo sapiens_hsa050121.79650213
19Circadian rhythm_Homo sapiens_hsa047101.70830437
20Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.66747103
21Alzheimers disease_Homo sapiens_hsa050101.65577349
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.62745293
23Pyruvate metabolism_Homo sapiens_hsa006201.58110765
24Adipocytokine signaling pathway_Homo sapiens_hsa049201.55422084
25Oxidative phosphorylation_Homo sapiens_hsa001901.55403680
26AMPK signaling pathway_Homo sapiens_hsa041521.48825608
27Viral myocarditis_Homo sapiens_hsa054161.45754882
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.45302878
29Calcium signaling pathway_Homo sapiens_hsa040201.43598346
30Fatty acid metabolism_Homo sapiens_hsa012121.42214336
31Galactose metabolism_Homo sapiens_hsa000521.41944914
32Biosynthesis of amino acids_Homo sapiens_hsa012301.41142164
33Fructose and mannose metabolism_Homo sapiens_hsa000511.19297187
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.15972484
35Arginine and proline metabolism_Homo sapiens_hsa003301.12191125
36Vascular smooth muscle contraction_Homo sapiens_hsa042701.10176911
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06766699
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.01017846
39Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.00820319
40* Tight junction_Homo sapiens_hsa045300.99022278
41Focal adhesion_Homo sapiens_hsa045100.96809768
42Arginine biosynthesis_Homo sapiens_hsa002200.90930170
43GnRH signaling pathway_Homo sapiens_hsa049120.87511789
44Fatty acid biosynthesis_Homo sapiens_hsa000610.86267532
45Central carbon metabolism in cancer_Homo sapiens_hsa052300.85033259
46Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.81735929
47Gastric acid secretion_Homo sapiens_hsa049710.78196195
48PPAR signaling pathway_Homo sapiens_hsa033200.75481608
49Huntingtons disease_Homo sapiens_hsa050160.74290699
50FoxO signaling pathway_Homo sapiens_hsa040680.72320437
51Pentose phosphate pathway_Homo sapiens_hsa000300.70921457
52Butanoate metabolism_Homo sapiens_hsa006500.69532021
53HIF-1 signaling pathway_Homo sapiens_hsa040660.69204113
54Renin secretion_Homo sapiens_hsa049240.67861841
55VEGF signaling pathway_Homo sapiens_hsa043700.67107265
56MAPK signaling pathway_Homo sapiens_hsa040100.60640807
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58757940
58mTOR signaling pathway_Homo sapiens_hsa041500.58090642
59Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.56488886
60beta-Alanine metabolism_Homo sapiens_hsa004100.54467760
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.53104743
62Insulin secretion_Homo sapiens_hsa049110.49626881
63Platelet activation_Homo sapiens_hsa046110.48401598
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47621435
65Fatty acid elongation_Homo sapiens_hsa000620.45730625
66Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45679885
67Phenylalanine metabolism_Homo sapiens_hsa003600.45570483
68Leukocyte transendothelial migration_Homo sapiens_hsa046700.42648770
69Type II diabetes mellitus_Homo sapiens_hsa049300.42107642
70Proteoglycans in cancer_Homo sapiens_hsa052050.40946831
71Amoebiasis_Homo sapiens_hsa051460.39254630
72Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37480941
73Salivary secretion_Homo sapiens_hsa049700.36583497
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35320988
75Renal cell carcinoma_Homo sapiens_hsa052110.32863822
76Histidine metabolism_Homo sapiens_hsa003400.31910713
77Lysine degradation_Homo sapiens_hsa003100.30735652
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.30194172
79Adherens junction_Homo sapiens_hsa045200.30050556
80alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28495981
81Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.27999119
82Nitrogen metabolism_Homo sapiens_hsa009100.27445277
83Tryptophan metabolism_Homo sapiens_hsa003800.26452962
84Regulation of autophagy_Homo sapiens_hsa041400.26117249
85Long-term depression_Homo sapiens_hsa047300.25682966
86Fat digestion and absorption_Homo sapiens_hsa049750.24841180
87Peroxisome_Homo sapiens_hsa041460.24618730
88Tyrosine metabolism_Homo sapiens_hsa003500.23198455
89Amphetamine addiction_Homo sapiens_hsa050310.21372657
90Linoleic acid metabolism_Homo sapiens_hsa005910.21273820
91Glioma_Homo sapiens_hsa052140.20816585
92Purine metabolism_Homo sapiens_hsa002300.20679457
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.20157296
94Cholinergic synapse_Homo sapiens_hsa047250.19015965
95cAMP signaling pathway_Homo sapiens_hsa040240.17174240
96AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.16885885
97Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.15282413
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.15051970
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.14539904
100Thyroid cancer_Homo sapiens_hsa052160.14332695
101Pancreatic secretion_Homo sapiens_hsa049720.14212209
102Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.13559201
103Melanogenesis_Homo sapiens_hsa049160.12751566
104Circadian entrainment_Homo sapiens_hsa047130.12729185
105Bile secretion_Homo sapiens_hsa049760.12652569
106ECM-receptor interaction_Homo sapiens_hsa045120.11243772
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.10416882
108ABC transporters_Homo sapiens_hsa020100.10228541
109Prolactin signaling pathway_Homo sapiens_hsa049170.09774613
110Long-term potentiation_Homo sapiens_hsa047200.08420298
111Oocyte meiosis_Homo sapiens_hsa041140.07761640
112Cysteine and methionine metabolism_Homo sapiens_hsa002700.07522300
113Metabolic pathways_Homo sapiens_hsa011000.07206731
114Neurotrophin signaling pathway_Homo sapiens_hsa047220.06449162
115Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.06393384
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.06252717
117Carbohydrate digestion and absorption_Homo sapiens_hsa049730.02627941

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