MYOZ2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.96481745
2cardiac myofibril assembly (GO:0055003)8.51149898
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.13463895
4myofibril assembly (GO:0030239)7.60432220
5negative regulation of potassium ion transmembrane transport (GO:1901380)7.29261255
6muscle filament sliding (GO:0030049)6.89842130
7actin-myosin filament sliding (GO:0033275)6.89842130
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.84880336
9regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.83850303
10tricarboxylic acid cycle (GO:0006099)6.72231879
11cardiac muscle contraction (GO:0060048)6.67587087
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.66046654
13regulation of relaxation of muscle (GO:1901077)6.43518152
14plasma membrane repair (GO:0001778)6.35619188
15cardiac muscle cell development (GO:0055013)6.21424445
16regulation of actin filament-based movement (GO:1903115)6.14600332
17regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.02893348
18cardiac cell development (GO:0055006)5.83136923
19regulation of skeletal muscle contraction (GO:0014819)5.70917937
20actin-mediated cell contraction (GO:0070252)5.69370317
21ventricular cardiac muscle cell action potential (GO:0086005)5.69262453
22bundle of His cell to Purkinje myocyte communication (GO:0086069)5.66756404
23regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.62974104
24actomyosin structure organization (GO:0031032)5.60087429
25cardiac muscle tissue morphogenesis (GO:0055008)5.48573616
26regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.43882621
27sarcoplasmic reticulum calcium ion transport (GO:0070296)5.43876310
28regulation of sarcomere organization (GO:0060297)5.41833510
29adult heart development (GO:0007512)5.38945672
30regulation of cell communication by electrical coupling (GO:0010649)5.38732424
31ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.36874089
32cardiac muscle hypertrophy (GO:0003300)5.35888925
33response to inactivity (GO:0014854)5.29904283
34regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.24541878
35striated muscle contraction (GO:0006941)5.24484494
36heart trabecula formation (GO:0060347)5.17520740
37regulation of acyl-CoA biosynthetic process (GO:0050812)5.13274743
38striated muscle hypertrophy (GO:0014897)5.08827468
39carnitine shuttle (GO:0006853)5.06895702
40heart contraction (GO:0060047)5.05931800
41heart process (GO:0003015)5.05931800
42mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.95500371
43muscle tissue morphogenesis (GO:0060415)4.91979703
44regulation of striated muscle contraction (GO:0006942)4.91698195
45mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.87643896
46regulation of membrane repolarization (GO:0060306)4.74064972
47regulation of the force of heart contraction (GO:0002026)4.71511562
48regulation of coenzyme metabolic process (GO:0051196)4.67001462
49regulation of cofactor metabolic process (GO:0051193)4.67001462
50energy coupled proton transport, down electrochemical gradient (GO:0015985)4.65655101
51ATP synthesis coupled proton transport (GO:0015986)4.65655101
52cell communication involved in cardiac conduction (GO:0086065)4.61863237
53respiratory electron transport chain (GO:0022904)4.60052570
54muscle hypertrophy (GO:0014896)4.50955192
55cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.48761724
56electron transport chain (GO:0022900)4.46055036
57fatty acid transmembrane transport (GO:1902001)4.43066450
58regulation of cardiac muscle cell contraction (GO:0086004)4.41476024
59detection of calcium ion (GO:0005513)4.41158622
60response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.34829952
61muscle system process (GO:0003012)4.30303654
62actin filament-based movement (GO:0030048)4.26371729
63oxidative phosphorylation (GO:0006119)4.24171976
64creatine metabolic process (GO:0006600)4.24027013
65regulation of cardiac muscle contraction (GO:0055117)4.19008394
66cardiac chamber formation (GO:0003207)4.17151868
67striated muscle adaptation (GO:0014888)4.15970697
68membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.04665482
69negative regulation of potassium ion transport (GO:0043267)4.03712331
702-oxoglutarate metabolic process (GO:0006103)4.02723646
71NADH metabolic process (GO:0006734)4.02334756
72cardiac ventricle formation (GO:0003211)4.00763775
73regulation of heart rate (GO:0002027)3.98849150
74cardiac muscle cell action potential involved in contraction (GO:0086002)3.97994544
75relaxation of cardiac muscle (GO:0055119)3.97548886
76regulation of sequestering of triglyceride (GO:0010889)3.96833612
77positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.96404239
78cardiac muscle cell action potential (GO:0086001)3.94941647
79response to caffeine (GO:0031000)3.86451378
80regulation of ATPase activity (GO:0043462)3.85857619
81regulation of ATP catabolic process (GO:1903289)3.85857619
82regulation of muscle contraction (GO:0006937)3.85854708
83cell communication by electrical coupling (GO:0010644)3.84817447
84response to muscle activity (GO:0014850)3.83561429
85negative regulation of protein localization to cell surface (GO:2000009)3.81384750
86regulation of sulfur metabolic process (GO:0042762)3.80992647
87cardiac muscle adaptation (GO:0014887)3.79748410
88cardiac muscle hypertrophy in response to stress (GO:0014898)3.79748410
89muscle hypertrophy in response to stress (GO:0003299)3.79748410
90carnitine transmembrane transport (GO:1902603)3.74785872
91neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.71176281
92regulation of heart contraction (GO:0008016)3.67243522
93regulation of muscle system process (GO:0090257)3.66199613
94negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.65024328
95oxygen transport (GO:0015671)3.64627397
96cellular response to epinephrine stimulus (GO:0071872)3.62924089
97response to epinephrine (GO:0071871)3.60170061
98positive regulation of heart rate (GO:0010460)3.59446732
99negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.55967891
100negative regulation of calcium ion transmembrane transport (GO:1903170)3.55967891
101cardiac conduction (GO:0061337)3.55724172
102skeletal muscle contraction (GO:0003009)3.55374416
103striated muscle cell development (GO:0055002)3.54263262
104positive regulation of cation channel activity (GO:2001259)3.52973484
105muscle contraction (GO:0006936)3.52344975
106regulation of calcium ion transmembrane transporter activity (GO:1901019)3.51312436
107regulation of calcium ion transmembrane transport (GO:1903169)3.51312436
108adrenergic receptor signaling pathway (GO:0071875)3.44060305
109positive regulation of heart contraction (GO:0045823)3.43678478
110ventricular cardiac muscle cell development (GO:0055015)3.42246396
111negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.41212580
112regulation of cardioblast differentiation (GO:0051890)3.41174714
113amino-acid betaine transport (GO:0015838)3.40950102
114carnitine transport (GO:0015879)3.40950102
115regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.40653009
116regulation of fatty acid oxidation (GO:0046320)3.38932280
117fatty acid beta-oxidation (GO:0006635)3.38089784
118muscle adaptation (GO:0043500)3.38005419
119negative regulation of striated muscle cell apoptotic process (GO:0010664)3.36631026
120regulation of heart rate by cardiac conduction (GO:0086091)3.36004589
121muscle fiber development (GO:0048747)3.35044326
122relaxation of muscle (GO:0090075)3.33723485
123regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.24256449

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.17538907
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.97699264
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.83832056
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.27261525
5* TBX20_22080862_ChIP-Seq_HEART_Mouse4.18261099
6* TBX20_22328084_ChIP-Seq_HEART_Mouse4.18261099
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.87011561
8ZNF263_19887448_ChIP-Seq_K562_Human3.31085247
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.13697209
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.06131394
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.84243004
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.76370102
13GATA4_21415370_ChIP-Seq_HL-1_Mouse2.45301373
14TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.18941703
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.18370499
16EZH2_22144423_ChIP-Seq_EOC_Human2.12623196
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.11023169
18PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.97101085
19PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.94589463
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.94314693
21EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.92514510
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90977295
23CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90018875
24NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.84895321
25BP1_19119308_ChIP-ChIP_Hs578T_Human1.84648019
26CLOCK_20551151_ChIP-Seq_293T_Human1.75955691
27VDR_22108803_ChIP-Seq_LS180_Human1.75559749
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.61727169
29NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.50863445
30FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.50828754
31* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47816612
32GATA1_22025678_ChIP-Seq_K562_Human1.42472603
33PPARA_22158963_ChIP-Seq_LIVER_Mouse1.36816967
34ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.34225489
35TRIM28_21343339_ChIP-Seq_HEK293_Human1.34067730
36LXR_22158963_ChIP-Seq_LIVER_Mouse1.32979412
37NFIB_24661679_ChIP-Seq_LUNG_Mouse1.32658901
38KDM2B_26808549_Chip-Seq_SUP-B15_Human1.31231760
39CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.28450279
40PPAR_26484153_Chip-Seq_NCI-H1993_Human1.21203302
41PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.20402544
42ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.19832974
43GATA2_21666600_ChIP-Seq_HMVEC_Human1.18582577
44WT1_19549856_ChIP-ChIP_CCG9911_Human1.16611515
45DROSHA_22980978_ChIP-Seq_HELA_Human1.15105184
46CTCF_27219007_Chip-Seq_Bcells_Human1.14513252
47* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14288761
48TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13564821
49STAT3_1855785_ChIP-Seq_MESCs_Mouse1.13272361
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.12763686
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11378428
52GATA1_19941826_ChIP-Seq_K562_Human1.10718650
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10492220
54RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.09480105
55EZH2_27294783_Chip-Seq_ESCs_Mouse1.08888763
56TP63_22573176_ChIP-Seq_HFKS_Human1.08417654
57KDM2B_26808549_Chip-Seq_DND41_Human1.06899001
58BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06185693
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04944911
60GBX2_23144817_ChIP-Seq_PC3_Human1.04745439
61RXR_22158963_ChIP-Seq_LIVER_Mouse1.04540415
62SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02970931
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.01415421
64ZNF274_21170338_ChIP-Seq_K562_Hela1.00498928
65RNF2_18974828_ChIP-Seq_MESCs_Mouse1.00414279
66EZH2_18974828_ChIP-Seq_MESCs_Mouse1.00414279
67* SMAD4_21799915_ChIP-Seq_A2780_Human1.00407249
68GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.99561714
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.98809330
70EZH2_27304074_Chip-Seq_ESCs_Mouse0.98588490
71PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.98270891
72ISL1_27105846_Chip-Seq_CPCs_Mouse0.96729041
73SPI1_20517297_ChIP-Seq_HL60_Human0.95522399
74NRF2_20460467_ChIP-Seq_MEFs_Mouse0.94943748
75NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.94943748
76LXR_22292898_ChIP-Seq_THP-1_Human0.94879272
77ATF3_27146783_Chip-Seq_COLON_Human0.94636880
78RUNX1_27514584_Chip-Seq_MCF-7_Human0.94481368
79SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94198595
80ELK3_25401928_ChIP-Seq_HUVEC_Human0.94119680
81SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93497888
82SMC3_22415368_ChIP-Seq_MEFs_Mouse0.93140037
83CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92737108
84SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92362022
85MTF2_20144788_ChIP-Seq_MESCs_Mouse0.91942071
86AUTS2_25519132_ChIP-Seq_293T-REX_Human0.90970381
87RACK7_27058665_Chip-Seq_MCF-7_Human0.89798841
88FOXA2_19822575_ChIP-Seq_HepG2_Human0.89222427
89EZH2_27294783_Chip-Seq_NPCs_Mouse0.88023747
90* SOX2_21211035_ChIP-Seq_LN229_Gbm0.87988193
91PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.87674329
92EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.87451243
93P68_20966046_ChIP-Seq_HELA_Human0.87180169
94GATA2_19941826_ChIP-Seq_K562_Human0.86498146
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.85857924
96SOX9_24532713_ChIP-Seq_HFSC_Mouse0.85786188
97GF1_26923725_Chip-Seq_HPCs_Mouse0.85405874
98KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.85256032
99TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.84581805
100OCT4_20526341_ChIP-Seq_ESCs_Human0.83774108
101GATA1_19941827_ChIP-Seq_MEL_Mouse0.82669050
102LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82560234
103FOXH1_21741376_ChIP-Seq_ESCs_Human0.82445651
104CBX2_27304074_Chip-Seq_ESCs_Mouse0.82380427
105BCAT_22108803_ChIP-Seq_LS180_Human0.81545028
106TBL1_22424771_ChIP-Seq_293T_Human0.81241169
107EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.80878622
108GATA1_19941827_ChIP-Seq_MEL86_Mouse0.80360036
109NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.80109451
110ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.78963232
111NR3C1_21868756_ChIP-Seq_MCF10A_Human0.78714510
112SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.78536751
113HTT_18923047_ChIP-ChIP_STHdh_Human0.77586779
114STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.77056341
115SPI1_23127762_ChIP-Seq_K562_Human0.76551663
116GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76347397
117CRX_20693478_ChIP-Seq_RETINA_Mouse0.75745973
118TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.75339341
119SMAD4_21741376_ChIP-Seq_HESCs_Human0.75186535
120* CJUN_26792858_Chip-Seq_BT549_Human0.75079966
121CTCF_21964334_Chip-Seq_Bcells_Human0.73422457
122RARB_27405468_Chip-Seq_BRAIN_Mouse0.73402501
123ZFP281_18757296_ChIP-ChIP_E14_Mouse0.72810951
124TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72728137
125PCGF2_27294783_Chip-Seq_ESCs_Mouse0.71949866
126NFE2_27457419_Chip-Seq_LIVER_Mouse0.71707133
127SMC1_22415368_ChIP-Seq_MEFs_Mouse0.71558707
128SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.71536538
129TP53_23651856_ChIP-Seq_MEFs_Mouse0.71452839
130SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.71269145
131YAP1_20516196_ChIP-Seq_MESCs_Mouse0.71228097
132GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.71224584
133BCL6_27268052_Chip-Seq_Bcells_Human0.70910036
134LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70903511
135PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.70556214
136TCF4_23295773_ChIP-Seq_U87_Human0.70106509
137UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.69597778
138GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68692396
139BCOR_27268052_Chip-Seq_Bcells_Human0.68431598
140WT1_25993318_ChIP-Seq_PODOCYTE_Human0.68167923
141SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.67892661

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.96020728
2MP0003646_muscle_fatigue5.90984358
3MP0004084_abnormal_cardiac_muscle5.80924375
4MP0000751_myopathy5.29141987
5MP0004215_abnormal_myocardial_fiber4.91597782
6MP0004036_abnormal_muscle_relaxation4.27759128
7MP0000749_muscle_degeneration3.94538880
8* MP0005330_cardiomyopathy3.76498792
9* MP0002972_abnormal_cardiac_muscle3.08047673
10* MP0004087_abnormal_muscle_fiber3.05430855
11MP0008775_abnormal_heart_ventricle2.96935204
12MP0003137_abnormal_impulse_conducting2.91476920
13MP0000750_abnormal_muscle_regeneration2.78043412
14MP0004130_abnormal_muscle_cell2.66074221
15* MP0005620_abnormal_muscle_contractility2.61056714
16* MP0001544_abnormal_cardiovascular_syste2.59442860
17* MP0005385_cardiovascular_system_phenoty2.59442860
18MP0002106_abnormal_muscle_physiology2.54858185
19* MP0010630_abnormal_cardiac_muscle2.53752751
20MP0006138_congestive_heart_failure2.45085935
21* MP0004484_altered_response_of2.35927774
22MP0003828_pulmonary_edema2.31661823
23MP0002269_muscular_atrophy2.31241054
24MP0004145_abnormal_muscle_electrophysio2.23582961
25MP0004085_abnormal_heartbeat2.13696402
26MP0005369_muscle_phenotype2.06618730
27MP0003221_abnormal_cardiomyocyte_apopto2.02529376
28MP0000747_muscle_weakness1.99367883
29* MP0000759_abnormal_skeletal_muscle1.91175280
30MP0004510_myositis1.88951630
31MP0006036_abnormal_mitochondrial_physio1.87443288
32MP0004233_abnormal_muscle_weight1.65795754
33MP0002127_abnormal_cardiovascular_syste1.64599312
34MP0003950_abnormal_plasma_membrane1.64432642
35MP0002332_abnormal_exercise_endurance1.52886257
36MP0005666_abnormal_adipose_tissue1.47847693
37MP0000343_altered_response_to1.29483912
38MP0005670_abnormal_white_adipose1.28307149
39MP0003567_abnormal_fetal_cardiomyocyte1.23823370
40MP0010368_abnormal_lymphatic_system1.15990284
41* MP0000266_abnormal_heart_morphology1.12222050
42MP0002234_abnormal_pharynx_morphology1.07867662
43MP0006035_abnormal_mitochondrial_morpho1.07463713
44MP0003279_aneurysm1.03952132
45MP0004185_abnormal_adipocyte_glucose1.02595321
46MP0005375_adipose_tissue_phenotype0.99700491
47MP0001661_extended_life_span0.94462908
48MP0002108_abnormal_muscle_morphology0.89789390
49* MP0005165_increased_susceptibility_to0.88930186
50MP0005266_abnormal_metabolism0.87807293
51MP0000230_abnormal_systemic_arterial0.84908777
52MP0002128_abnormal_blood_circulation0.79943231
53MP0004043_abnormal_pH_regulation0.74299589
54MP0005623_abnormal_meninges_morphology0.74222526
55MP0003566_abnormal_cell_adhesion0.69720097
56MP0002909_abnormal_adrenal_gland0.67873016
57MP0001879_abnormal_lymphatic_vessel0.66419708
58MP0003705_abnormal_hypodermis_morpholog0.61710798
59MP0003806_abnormal_nucleotide_metabolis0.60549034
60MP0004147_increased_porphyrin_level0.59604120
61MP0000733_abnormal_muscle_development0.59479512
62MP0000767_abnormal_smooth_muscle0.58693441
63MP0000003_abnormal_adipose_tissue0.58643241
64MP0000013_abnormal_adipose_tissue0.56762080
65MP0002971_abnormal_brown_adipose0.56301509
66MP0005503_abnormal_tendon_morphology0.55221566
67MP0005187_abnormal_penis_morphology0.54425699
68MP0005319_abnormal_enzyme/_coenzyme0.52087588
69MP0008438_abnormal_cutaneous_collagen0.51172111
70MP0002078_abnormal_glucose_homeostasis0.49403146
71MP0008004_abnormal_stomach_pH0.47867573
72MP0004272_abnormal_basement_membrane0.47473429
73MP0004270_analgesia0.45869395
74MP0001299_abnormal_eye_distance/0.44847434
75MP0005451_abnormal_body_composition0.44351572
76MP0002925_abnormal_cardiovascular_devel0.42515310
77MP0008569_lethality_at_weaning0.41514597
78MP0008961_abnormal_basal_metabolism0.41270835
79MP0005275_abnormal_skin_tensile0.40264293
80MP0005535_abnormal_body_temperature0.39467466
81MP0003984_embryonic_growth_retardation0.35765368
82MP0001984_abnormal_olfaction0.35259648
83MP0001614_abnormal_blood_vessel0.34856670
84MP0002822_catalepsy0.34828680
85MP0002088_abnormal_embryonic_growth/wei0.34397391
86MP0009840_abnormal_foam_cell0.33744450
87MP0003195_calcinosis0.33102832
88MP0001784_abnormal_fluid_regulation0.31322603
89MP0004924_abnormal_behavior0.31321336
90MP0005386_behavior/neurological_phenoty0.31321336
91MP0002638_abnormal_pupillary_reflex0.30243877
92MP0005167_abnormal_blood-brain_barrier0.29342321
93MP0003948_abnormal_gas_homeostasis0.29056925
94MP0005334_abnormal_fat_pad0.28761005
95MP0002118_abnormal_lipid_homeostasis0.28197436
96MP0005595_abnormal_vascular_smooth0.27616319
97MP0001727_abnormal_embryo_implantation0.27285653
98MP0003941_abnormal_skin_development0.26848914
99MP0009384_cardiac_valve_regurgitation0.26689375
100MP0005083_abnormal_biliary_tract0.26559175
101MP0000249_abnormal_blood_vessel0.26018693
102MP0005584_abnormal_enzyme/coenzyme_acti0.24839865
103MP0002295_abnormal_pulmonary_circulatio0.24067767
104MP0009780_abnormal_chondrocyte_physiolo0.24034341
105MP0003045_fibrosis0.23905774
106MP0002877_abnormal_melanocyte_morpholog0.23632322
107MP0001853_heart_inflammation0.23170353
108MP0001958_emphysema0.23062249
109MP0005376_homeostasis/metabolism_phenot0.21774770
110MP0009115_abnormal_fat_cell0.21559022
111MP0000762_abnormal_tongue_morphology0.20849058
112MP0005409_darkened_coat_color0.19358796
113MP0000579_abnormal_nail_morphology0.16237410
114MP0008874_decreased_physiological_sensi0.15702054
115MP0002933_joint_inflammation0.12597272

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.00961408
2Calf muscle hypertrophy (HP:0008981)6.52947254
3* Ventricular tachycardia (HP:0004756)6.37382566
4Muscle hypertrophy of the lower extremities (HP:0008968)5.99356023
5* Atrial fibrillation (HP:0005110)5.81612203
6Exercise-induced myalgia (HP:0003738)5.81133370
7Exercise-induced muscle cramps (HP:0003710)5.75132465
8Muscle fiber splitting (HP:0003555)5.71309314
9* Primary atrial arrhythmia (HP:0001692)5.42821072
10Abnormality of the calf musculature (HP:0001430)5.39436474
11Lipoatrophy (HP:0100578)5.38542431
12* Supraventricular tachycardia (HP:0004755)5.24393730
13* Supraventricular arrhythmia (HP:0005115)5.13526485
14Hyporeflexia of lower limbs (HP:0002600)5.07619251
15Right ventricular cardiomyopathy (HP:0011663)5.04808091
16Myoglobinuria (HP:0002913)4.86368522
17Syncope (HP:0001279)4.85639962
18Subaortic stenosis (HP:0001682)4.83876800
19Abnormality of the left ventricular outflow tract (HP:0011103)4.83876800
20Palpitations (HP:0001962)4.58205902
21Dilated cardiomyopathy (HP:0001644)4.53255293
22Prolonged QT interval (HP:0001657)4.33638738
23EMG: myopathic abnormalities (HP:0003458)4.29965759
24Centrally nucleated skeletal muscle fibers (HP:0003687)4.29644041
25Ventricular arrhythmia (HP:0004308)3.97496262
26Distal arthrogryposis (HP:0005684)3.93201668
27Increased connective tissue (HP:0009025)3.93028614
28Atrioventricular block (HP:0001678)3.74523392
29Rhabdomyolysis (HP:0003201)3.70010135
30Difficulty running (HP:0009046)3.58610603
31Ventricular fibrillation (HP:0001663)3.54480769
32Acute necrotizing encephalopathy (HP:0006965)3.54175974
33Abnormal mitochondria in muscle tissue (HP:0008316)3.53689653
34Round ear (HP:0100830)3.41576932
35Myotonia (HP:0002486)3.37202364
36Hepatic necrosis (HP:0002605)3.34359005
37* Bundle branch block (HP:0011710)3.18525382
38Abnormal EKG (HP:0003115)3.08926237
39* Heart block (HP:0012722)3.07764803
40Acute encephalopathy (HP:0006846)3.05382660
41Myopathic facies (HP:0002058)2.99034496
42Ulnar deviation of the wrist (HP:0003049)2.97808818
43Progressive macrocephaly (HP:0004481)2.95944500
44Hepatocellular necrosis (HP:0001404)2.91620442
45Difficulty climbing stairs (HP:0003551)2.90269960
46Ketoacidosis (HP:0001993)2.89943699
47* Abnormal atrioventricular conduction (HP:0005150)2.89376930
48Muscle fiber inclusion bodies (HP:0100299)2.88188231
49Hypoglycemic coma (HP:0001325)2.84577980
50Mitochondrial inheritance (HP:0001427)2.79616263
51Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.77690247
52Distal lower limb muscle weakness (HP:0009053)2.77041865
53Cerebral edema (HP:0002181)2.74989107
54Type 1 muscle fiber predominance (HP:0003803)2.74538444
55Palmoplantar keratoderma (HP:0000982)2.67297066
56Frequent falls (HP:0002359)2.67015567
57Increased CSF lactate (HP:0002490)2.62654116
58Areflexia of lower limbs (HP:0002522)2.61497317
59Increased variability in muscle fiber diameter (HP:0003557)2.59839007
60* Asymmetric septal hypertrophy (HP:0001670)2.59670678
61* Left ventricular hypertrophy (HP:0001712)2.59349115
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.57092071
63Dicarboxylic aciduria (HP:0003215)2.57092071
64Increased muscle lipid content (HP:0009058)2.55936813
65Abnormality of fatty-acid metabolism (HP:0004359)2.55271455
66Muscle stiffness (HP:0003552)2.52853300
67Limb-girdle muscle atrophy (HP:0003797)2.49345231
68Scapular winging (HP:0003691)2.48935790
69Calcaneovalgus deformity (HP:0001848)2.48680807
70Conjunctival hamartoma (HP:0100780)2.46871667
71Neck muscle weakness (HP:0000467)2.46121636
72Abnormality of skeletal muscle fiber size (HP:0012084)2.44535796
73Bulbar palsy (HP:0001283)2.43835945
74Testicular atrophy (HP:0000029)2.41240894
75Ragged-red muscle fibers (HP:0003200)2.39174022
76Exercise intolerance (HP:0003546)2.35954389
77Lactic acidosis (HP:0003128)2.33372217
78Respiratory failure (HP:0002878)2.32808599
79Abnormality of alanine metabolism (HP:0010916)2.31334321
80Hyperalaninemia (HP:0003348)2.31334321
81Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.31334321
82Pheochromocytoma (HP:0002666)2.26245021
83Weak cry (HP:0001612)2.26238823
84Increased intramyocellular lipid droplets (HP:0012240)2.25416076
85Absent phalangeal crease (HP:0006109)2.24795005
86Nemaline bodies (HP:0003798)2.17870927
87Deformed tarsal bones (HP:0008119)2.17399253
88Steppage gait (HP:0003376)2.15628127
89Hypoplastic heart (HP:0001961)2.13619521
90Ketosis (HP:0001946)2.13065552
91Sudden cardiac death (HP:0001645)2.12507500
92Rimmed vacuoles (HP:0003805)2.10161567
93Distal lower limb amyotrophy (HP:0008944)2.06556880
94Aplasia of the musculature (HP:0100854)2.06270160
95Malignant hyperthermia (HP:0002047)2.05372292
96Abnormality of the foot musculature (HP:0001436)2.04433997
97Congestive heart failure (HP:0001635)2.03350293
98Neuroendocrine neoplasm (HP:0100634)2.02920107
99Gowers sign (HP:0003391)2.02368628
100Facial diplegia (HP:0001349)2.01274441
101Neoplasm of head and neck (HP:0012288)2.01113868
102Esophageal neoplasm (HP:0100751)2.01113868
103Abnormality of the shoulder girdle musculature (HP:0001435)2.01068649
104Fetal akinesia sequence (HP:0001989)1.98911404
105Hamartoma of the eye (HP:0010568)1.98288143
106Proximal amyotrophy (HP:0007126)1.98159409
107Hypoplastic ischia (HP:0003175)1.97994186
108Foot dorsiflexor weakness (HP:0009027)1.96425976
109Dysmetric saccades (HP:0000641)1.96321210
110Muscular dystrophy (HP:0003560)1.96313627
111Lower limb amyotrophy (HP:0007210)1.94975300
112Neoplasm of the adrenal gland (HP:0100631)1.94531801
113Hyperinsulinemic hypoglycemia (HP:0000825)1.94134378
114Hip contracture (HP:0003273)1.92294929
115EMG: neuropathic changes (HP:0003445)1.92099907
116Large for gestational age (HP:0001520)1.91843726
117Mildly elevated creatine phosphokinase (HP:0008180)1.90844865
118Respiratory insufficiency due to muscle weakness (HP:0002747)1.90169121
119Generalized muscle weakness (HP:0003324)1.88595541
120Fatigable weakness (HP:0003473)1.87924845
121Abnormality of the neuromuscular junction (HP:0003398)1.87924845
122Hypoplastic left heart (HP:0004383)1.86234924
123Abnormality of the tricuspid valve (HP:0001702)1.85828597
124Generalized aminoaciduria (HP:0002909)1.85134857
125Progressive muscle weakness (HP:0003323)1.84897685
126Central scotoma (HP:0000603)1.81722395
127Abnormal finger flexion creases (HP:0006143)1.80619979
128Popliteal pterygium (HP:0009756)1.78259291
129Increased serum pyruvate (HP:0003542)1.72015293
130Waddling gait (HP:0002515)1.70581277
131Bradycardia (HP:0001662)1.67423621
132Type 2 muscle fiber atrophy (HP:0003554)1.66198966
133Abnormality of glycolysis (HP:0004366)1.60447881
134Toxemia of pregnancy (HP:0100603)1.57058704

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.27985694
2OBSCN4.74758001
3PHKG13.87795212
4PHKG23.87795212
5LMTK23.86438639
6MYLK3.73885909
7PDK43.64591645
8PDK33.64591645
9DMPK3.03831427
10PKN22.99594615
11TRIB32.60527856
12BCKDK2.49364449
13MUSK2.43730704
14PIK3CA2.26826160
15PDK22.23358176
16PINK12.12693670
17TIE12.11955700
18NEK12.10530893
19STK241.80599539
20GRK71.71977032
21LIMK11.65599344
22PAK31.47056157
23MARK11.43913010
24CAMK2D1.33949306
25PRKD11.32412949
26ILK1.11006043
27MAP3K71.04601713
28STK41.04164128
29MAPK121.02251745
30WNK40.99514848
31CDC42BPA0.97985083
32ROCK10.97963124
33MAP3K60.90405201
34INSRR0.89751487
35PRKAA10.86050779
36FLT30.84437947
37MAP3K50.83735643
38MAPKAPK30.83127851
39TRPM70.82062617
40CAMK40.81750855
41MAP2K30.81704708
42NME20.81516224
43RIPK10.81378580
44PKN10.81304401
45PRKAA20.78951232
46ZAK0.78805966
47STK38L0.78129030
48DAPK30.78047621
49PDGFRA0.75536623
50STK380.66671031
51CAMK2A0.63217024
52KDR0.62908177
53ROCK20.62636267
54MAP3K30.62442653
55MAPK40.61573243
56TGFBR20.59761377
57CAMK2B0.58667696
58WNK10.58556610
59RPS6KL10.57292186
60RPS6KC10.57292186
61EPHB10.53013536
62EEF2K0.52380443
63CAMK10.50850762
64MAP2K10.50341978
65PRKACB0.50127828
66RPS6KA60.48980492
67MOS0.48423240
68NEK90.46740453
69PTK2B0.46406895
70PRKCE0.44627445
71KSR20.42990939
72CCNB10.41496231
73PDPK10.41303697
74STK390.40815737
75CAMK2G0.40096651
76PRKACA0.39717573
77PRKACG0.39352813
78AKT20.37471307
79PDK10.34478840
80ICK0.33407978
81ERBB30.31199469
82PIK3CG0.31010533
83PRKCH0.30940357
84NME10.30730458
85SIK10.28934896
86PTK60.27547459
87RPS6KA10.27237476
88ITK0.27113760
89JAK10.24615798
90PRKG20.22234275
91EPHB20.21823140
92DYRK1B0.21354916
93NLK0.21323407
94RET0.21164660
95MAPK100.21108906
96SGK20.19923079
97UHMK10.18482470
98FER0.18209648
99ZAP700.17565026
100SGK30.17470870
101STK110.17405095
102MTOR0.17314370
103PRKG10.17169583
104FGFR40.17044743
105PRKD30.15585713
106SGK10.15410517
107LATS20.14399434
108MAP2K40.14183347
109RPS6KA30.13599718
110LRRK20.13100549
111MAPK70.12713247
112MAPK110.12584661
113RAF10.12526978
114MARK30.12311838
115MARK20.12250424
116MAP3K10.11905738
117EPHA30.11316408
118PDGFRB0.11022737
119LATS10.10240164
120TESK10.10127941
121FGFR30.09128264
122RPS6KA20.09052738
123JAK20.08932232
124TAOK10.08655903
125MAP3K130.08445607
126ARAF0.08391066

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.92052085
2Cardiac muscle contraction_Homo sapiens_hsa042604.32974166
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.20031038
4Dilated cardiomyopathy_Homo sapiens_hsa054143.64674818
5Parkinsons disease_Homo sapiens_hsa050123.53849273
6Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.52149562
7Oxidative phosphorylation_Homo sapiens_hsa001903.49337371
8Propanoate metabolism_Homo sapiens_hsa006403.37861545
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.31621922
10Fatty acid degradation_Homo sapiens_hsa000712.93829903
11Alzheimers disease_Homo sapiens_hsa050102.63081855
12Carbon metabolism_Homo sapiens_hsa012002.44920559
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.42942382
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41299581
15Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.36833727
16Huntingtons disease_Homo sapiens_hsa050162.22925839
17Fatty acid metabolism_Homo sapiens_hsa012122.20150902
18Pyruvate metabolism_Homo sapiens_hsa006201.79705633
19Viral myocarditis_Homo sapiens_hsa054161.75256741
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63630215
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.53975798
22Butanoate metabolism_Homo sapiens_hsa006501.46747293
23Fatty acid elongation_Homo sapiens_hsa000621.31533163
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.28234902
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.16398907
26PPAR signaling pathway_Homo sapiens_hsa033201.07222564
27Biosynthesis of amino acids_Homo sapiens_hsa012301.02385098
28Insulin resistance_Homo sapiens_hsa049311.00081139
29Starch and sucrose metabolism_Homo sapiens_hsa005000.94448396
30Adipocytokine signaling pathway_Homo sapiens_hsa049200.94076205
31cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92021882
32Glucagon signaling pathway_Homo sapiens_hsa049220.89201604
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.85594525
34Tryptophan metabolism_Homo sapiens_hsa003800.83983026
35Insulin signaling pathway_Homo sapiens_hsa049100.80709005
36Arginine biosynthesis_Homo sapiens_hsa002200.76566060
37beta-Alanine metabolism_Homo sapiens_hsa004100.75386067
38Lysine degradation_Homo sapiens_hsa003100.74240790
39Calcium signaling pathway_Homo sapiens_hsa040200.71199898
40Arginine and proline metabolism_Homo sapiens_hsa003300.68286041
41Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67012102
42HIF-1 signaling pathway_Homo sapiens_hsa040660.64741889
43Focal adhesion_Homo sapiens_hsa045100.63482925
44AMPK signaling pathway_Homo sapiens_hsa041520.60680849
45Peroxisome_Homo sapiens_hsa041460.59824844
46Type II diabetes mellitus_Homo sapiens_hsa049300.58435398
47Pentose phosphate pathway_Homo sapiens_hsa000300.56707044
48Oxytocin signaling pathway_Homo sapiens_hsa049210.54794658
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.52643414
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51507043
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.48029709
52Galactose metabolism_Homo sapiens_hsa000520.47794795
53Fatty acid biosynthesis_Homo sapiens_hsa000610.47146665
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45955522
55Phenylalanine metabolism_Homo sapiens_hsa003600.45506756
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44497965
57Salivary secretion_Homo sapiens_hsa049700.43566000
58Tight junction_Homo sapiens_hsa045300.42210164
59Central carbon metabolism in cancer_Homo sapiens_hsa052300.40713416
60ECM-receptor interaction_Homo sapiens_hsa045120.39614370
61cAMP signaling pathway_Homo sapiens_hsa040240.39398033
62Renin secretion_Homo sapiens_hsa049240.37061752
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35736248
64Long-term potentiation_Homo sapiens_hsa047200.34754665
65Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34153464
66Gastric acid secretion_Homo sapiens_hsa049710.33948548
67Amphetamine addiction_Homo sapiens_hsa050310.31489767
68Fructose and mannose metabolism_Homo sapiens_hsa000510.30928684
69Insulin secretion_Homo sapiens_hsa049110.30432089
70Regulation of autophagy_Homo sapiens_hsa041400.30064455
71Prion diseases_Homo sapiens_hsa050200.29250492
72Metabolic pathways_Homo sapiens_hsa011000.28583259
73GABAergic synapse_Homo sapiens_hsa047270.27372695
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27084367
75Morphine addiction_Homo sapiens_hsa050320.27082704
76Amoebiasis_Homo sapiens_hsa051460.24114571
77Adherens junction_Homo sapiens_hsa045200.23562967
78Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.23520673
79Melanogenesis_Homo sapiens_hsa049160.22891257
80Fat digestion and absorption_Homo sapiens_hsa049750.20015772
81Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.19604725
82Circadian rhythm_Homo sapiens_hsa047100.18838652
83Renal cell carcinoma_Homo sapiens_hsa052110.16897663
84Aldosterone synthesis and secretion_Homo sapiens_hsa049250.16840212
85Regulation of actin cytoskeleton_Homo sapiens_hsa048100.16694433
86Circadian entrainment_Homo sapiens_hsa047130.16434696
87Cysteine and methionine metabolism_Homo sapiens_hsa002700.16394711
88Thyroid hormone synthesis_Homo sapiens_hsa049180.15710410
89Dorso-ventral axis formation_Homo sapiens_hsa043200.13871504
90Platelet activation_Homo sapiens_hsa046110.13077835
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.12511543
92Sulfur relay system_Homo sapiens_hsa041220.12080004
93Tyrosine metabolism_Homo sapiens_hsa003500.11851084
94Ovarian steroidogenesis_Homo sapiens_hsa049130.10874783
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.10634109
96Pancreatic secretion_Homo sapiens_hsa049720.10560445
97Olfactory transduction_Homo sapiens_hsa047400.10239755
98Proteoglycans in cancer_Homo sapiens_hsa052050.10233738
99Phospholipase D signaling pathway_Homo sapiens_hsa040720.10176821
100VEGF signaling pathway_Homo sapiens_hsa043700.09759074
101Gap junction_Homo sapiens_hsa045400.09505344
102Bile secretion_Homo sapiens_hsa049760.06712111
103GnRH signaling pathway_Homo sapiens_hsa049120.06004463
104mTOR signaling pathway_Homo sapiens_hsa041500.05817320
105Toxoplasmosis_Homo sapiens_hsa051450.04899673
106Cholinergic synapse_Homo sapiens_hsa047250.04731597
107Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.03475253
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.03007983
109Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.02320855
110Glycerolipid metabolism_Homo sapiens_hsa005610.01714830
111Taste transduction_Homo sapiens_hsa047420.00849517
112FoxO signaling pathway_Homo sapiens_hsa040680.00299269
113MAPK signaling pathway_Homo sapiens_hsa04010-0.0284078
114Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964-0.0263749
115Notch signaling pathway_Homo sapiens_hsa04330-0.0148194
116Small cell lung cancer_Homo sapiens_hsa05222-0.0094041

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