CKMT2

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: Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.83266486
2cardiac myofibril assembly (GO:0055003)7.99528513
3negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.65365400
4myofibril assembly (GO:0030239)7.49705439
5actin-myosin filament sliding (GO:0033275)7.38850727
6muscle filament sliding (GO:0030049)7.38850727
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.16642993
8tricarboxylic acid cycle (GO:0006099)6.87382388
9negative regulation of potassium ion transmembrane transport (GO:1901380)6.80888824
10regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.77573803
11regulation of skeletal muscle contraction (GO:0014819)6.63655184
12regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.51536882
13regulation of relaxation of muscle (GO:1901077)6.45810381
14cardiac muscle contraction (GO:0060048)6.45295267
15plasma membrane repair (GO:0001778)6.44512471
16sarcoplasmic reticulum calcium ion transport (GO:0070296)6.27194437
17actin-mediated cell contraction (GO:0070252)6.08152118
18regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)6.00414785
19regulation of actin filament-based movement (GO:1903115)5.99745295
20cardiac muscle cell development (GO:0055013)5.85567394
21regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.74525892
22carnitine shuttle (GO:0006853)5.57770208
23actomyosin structure organization (GO:0031032)5.52975540
24regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.50951312
25regulation of cell communication by electrical coupling (GO:0010649)5.50136899
26cardiac cell development (GO:0055006)5.48895188
27regulation of acyl-CoA biosynthetic process (GO:0050812)5.47894430
28striated muscle contraction (GO:0006941)5.44281701
29regulation of sarcomere organization (GO:0060297)5.22681121
30ventricular cardiac muscle cell action potential (GO:0086005)5.21959332
31cardiac muscle hypertrophy (GO:0003300)5.21788997
32bundle of His cell to Purkinje myocyte communication (GO:0086069)5.18320108
33regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.15318183
34cardiac muscle tissue morphogenesis (GO:0055008)5.10658311
35striated muscle hypertrophy (GO:0014897)5.01108741
36regulation of cofactor metabolic process (GO:0051193)4.98191536
37regulation of coenzyme metabolic process (GO:0051196)4.98191536
38adult heart development (GO:0007512)4.94175736
39fatty acid transmembrane transport (GO:1902001)4.88245350
40heart trabecula formation (GO:0060347)4.86042036
41heart contraction (GO:0060047)4.82773216
42heart process (GO:0003015)4.82773216
43regulation of striated muscle contraction (GO:0006942)4.81471137
44ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.73957610
45response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.67447321
46muscle tissue morphogenesis (GO:0060415)4.65264238
47mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.61411801
48mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.61384572
49actin filament-based movement (GO:0030048)4.54373342
50skeletal muscle contraction (GO:0003009)4.50548524
51regulation of membrane repolarization (GO:0060306)4.46343452
52muscle hypertrophy (GO:0014896)4.43188435
53respiratory electron transport chain (GO:0022904)4.37587406
54cell communication involved in cardiac conduction (GO:0086065)4.27838134
55ATP synthesis coupled proton transport (GO:0015986)4.27721289
56energy coupled proton transport, down electrochemical gradient (GO:0015985)4.27721289
57electron transport chain (GO:0022900)4.24224635
582-oxoglutarate metabolic process (GO:0006103)4.21544288
59regulation of the force of heart contraction (GO:0002026)4.20561788
60NADH metabolic process (GO:0006734)4.19125688
61oxidative phosphorylation (GO:0006119)4.17191534
62carnitine transmembrane transport (GO:1902603)4.16779406
63regulation of cardiac muscle cell contraction (GO:0086004)4.11877376
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.09921318
65regulation of sulfur metabolic process (GO:0042762)4.06424566
66regulation of sequestering of triglyceride (GO:0010889)4.01702926
67positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.01149921
68* creatine metabolic process (GO:0006600)3.94685932
69regulation of cardiac muscle contraction (GO:0055117)3.91738759
70muscle fiber development (GO:0048747)3.91408639
71membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.88817773
72skeletal muscle fiber development (GO:0048741)3.87947080
73glycogen catabolic process (GO:0005980)3.83028480
74cardiac muscle adaptation (GO:0014887)3.82765581
75cardiac muscle hypertrophy in response to stress (GO:0014898)3.82765581
76muscle hypertrophy in response to stress (GO:0003299)3.82765581
77amino-acid betaine transport (GO:0015838)3.80040789
78carnitine transport (GO:0015879)3.80040789
79skeletal muscle adaptation (GO:0043501)3.78088170
80relaxation of cardiac muscle (GO:0055119)3.78051840
81negative regulation of potassium ion transport (GO:0043267)3.74880157
82cardiac muscle cell action potential involved in contraction (GO:0086002)3.71789044
83negative regulation of calcium ion transmembrane transport (GO:1903170)3.71295134
84negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.71295134
85* muscle contraction (GO:0006936)3.70299235
86cardiac muscle cell action potential (GO:0086001)3.69554423
87regulation of ATPase activity (GO:0043462)3.68563423
88regulation of ATP catabolic process (GO:1903289)3.68563423
89regulation of heart rate (GO:0002027)3.67747410
90negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.64351823
91myotube cell development (GO:0014904)3.64318908
92glycogen biosynthetic process (GO:0005978)3.64123608
93glucan biosynthetic process (GO:0009250)3.64123608
94striated muscle adaptation (GO:0014888)3.63469020
95response to inactivity (GO:0014854)3.62819779
96regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.62629127
97regulation of calcium ion transmembrane transporter activity (GO:1901019)3.61108326
98regulation of calcium ion transmembrane transport (GO:1903169)3.61108326
99regulation of muscle contraction (GO:0006937)3.60418107
100glucan catabolic process (GO:0009251)3.58951249
101striated muscle cell development (GO:0055002)3.56734240
102positive regulation of cation channel activity (GO:2001259)3.55227822
103negative regulation of protein localization to cell surface (GO:2000009)3.52319464
104muscle adaptation (GO:0043500)3.51782149
105fatty acid beta-oxidation (GO:0006635)3.50530995
106regulation of muscle system process (GO:0090257)3.50473806
107aspartate family amino acid catabolic process (GO:0009068)3.49752585
108cell communication by electrical coupling (GO:0010644)3.49274155
109* muscle system process (GO:0003012)3.46911415
110skeletal muscle tissue development (GO:0007519)3.46250736
111detection of calcium ion (GO:0005513)3.46127376
112succinate metabolic process (GO:0006105)3.44563531
113oxygen transport (GO:0015671)3.44442742
114response to caffeine (GO:0031000)3.44412726
115positive regulation of heart rate (GO:0010460)3.43168256
116response to epinephrine (GO:0071871)3.41534083
117regulation of heart contraction (GO:0008016)3.41338801
118muscle cell cellular homeostasis (GO:0046716)3.38244414
119regulation of fatty acid oxidation (GO:0046320)3.38134845
120response to muscle activity (GO:0014850)3.37899170
121cellular polysaccharide catabolic process (GO:0044247)3.36218569
122cardiac conduction (GO:0061337)3.33095267
123relaxation of muscle (GO:0090075)3.31743967

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.22389557
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.73579557
3EP300_21415370_ChIP-Seq_HL-1_Mouse4.57403033
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.38512210
5TBX20_22328084_ChIP-Seq_HEART_Mouse4.08297329
6TBX20_22080862_ChIP-Seq_HEART_Mouse4.08297329
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.36824294
8ZNF263_19887448_ChIP-Seq_K562_Human3.27117834
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.20390261
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.08860436
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.89929185
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.82807189
13BP1_19119308_ChIP-ChIP_Hs578T_Human2.37403770
14GATA4_21415370_ChIP-Seq_HL-1_Mouse2.31730254
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.22610061
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.21207127
17EZH2_22144423_ChIP-Seq_EOC_Human2.20954264
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.14598105
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.05226193
20CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04129158
21NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.89181628
22PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.82106515
23* CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.78163860
24NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.74395074
25CLOCK_20551151_ChIP-Seq_293T_Human1.70448142
26EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.67053479
27ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.63136230
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.58983130
29GATA1_22025678_ChIP-Seq_K562_Human1.51429466
30TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.51166953
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.43248413
32NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.42940267
33FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.42217345
34* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.41392931
35BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.38043903
36VDR_22108803_ChIP-Seq_LS180_Human1.38024727
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.34817691
38LXR_22158963_ChIP-Seq_LIVER_Mouse1.34455033
39BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.29854489
40CTCF_27219007_Chip-Seq_Bcells_Human1.26179885
41EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.25036467
42KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22430334
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17284509
44PPAR_26484153_Chip-Seq_NCI-H1993_Human1.16911867
45ZNF274_21170338_ChIP-Seq_K562_Hela1.15261741
46RXR_22158963_ChIP-Seq_LIVER_Mouse1.14178001
47DROSHA_22980978_ChIP-Seq_HELA_Human1.13053127
48STAT3_1855785_ChIP-Seq_MESCs_Mouse1.11992325
49E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.11794212
50EZH2_27294783_Chip-Seq_ESCs_Mouse1.10510565
51ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.09437571
52KDM2B_26808549_Chip-Seq_DND41_Human1.07612874
53RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.06530945
54PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.05572731
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05484814
56* TP63_22573176_ChIP-Seq_HFKS_Human1.05040259
57SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03163803
58GATA1_19941826_ChIP-Seq_K562_Human1.02846523
59GATA2_21666600_ChIP-Seq_HMVEC_Human1.01319058
60P68_20966046_ChIP-Seq_HELA_Human0.97406366
61SPI1_20517297_ChIP-Seq_HL60_Human0.97020300
62TRIM28_21343339_ChIP-Seq_HEK293_Human0.96317154
63PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.95644161
64NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95585681
65LXR_22292898_ChIP-Seq_THP-1_Human0.95459750
66ATF3_27146783_Chip-Seq_COLON_Human0.95197951
67FOXH1_21741376_ChIP-Seq_ESCs_Human0.94337851
68SUZ12_27294783_Chip-Seq_NPCs_Mouse0.94249225
69SMC3_22415368_ChIP-Seq_MEFs_Mouse0.93866728
70OCT4_20526341_ChIP-Seq_ESCs_Human0.93847853
71RUNX1_27514584_Chip-Seq_MCF-7_Human0.93278646
72STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.93227440
73* RARB_27405468_Chip-Seq_BRAIN_Mouse0.92936255
74RACK7_27058665_Chip-Seq_MCF-7_Human0.92765203
75AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91538034
76GBX2_23144817_ChIP-Seq_PC3_Human0.90633514
77SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.90378563
78PCGF2_27294783_Chip-Seq_ESCs_Mouse0.89041714
79PCGF2_27294783_Chip-Seq_NPCs_Mouse0.88831248
80SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87926318
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.87500739
82MTF2_20144788_ChIP-Seq_MESCs_Mouse0.87393320
83CBX2_27304074_Chip-Seq_ESCs_Mouse0.87039205
84EZH2_27294783_Chip-Seq_NPCs_Mouse0.86475693
85ELK3_25401928_ChIP-Seq_HUVEC_Human0.85680380
86FOXA2_19822575_ChIP-Seq_HepG2_Human0.85481111
87GATA2_19941826_ChIP-Seq_K562_Human0.85281848
88CTCF_21964334_ChIP-Seq_BJAB-B_Human0.84007661
89ISL1_27105846_Chip-Seq_CPCs_Mouse0.83350088
90MYC_27129775_Chip-Seq_CORNEA_Mouse0.83186848
91PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.83148233
92LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.83145722
93EZH2_27304074_Chip-Seq_ESCs_Mouse0.82975588
94SOX9_24532713_ChIP-Seq_HFSC_Mouse0.82533873
95CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82507415
96NRF2_20460467_ChIP-Seq_MEFs_Mouse0.82455939
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.82455939
98CJUN_26792858_Chip-Seq_BT549_Human0.82385605
99EZH2_18974828_ChIP-Seq_MESCs_Mouse0.81827276
100RNF2_18974828_ChIP-Seq_MESCs_Mouse0.81827276
101WT1_25993318_ChIP-Seq_PODOCYTE_Human0.81587645
102GATA1_19941827_ChIP-Seq_MEL_Mouse0.80615357
103SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.80590331
104NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.80368179
105GATA1_19941827_ChIP-Seq_MEL86_Mouse0.80005176
106CRX_20693478_ChIP-Seq_RETINA_Mouse0.79966447
107SMAD3_21741376_ChIP-Seq_HESCs_Human0.79419659
108EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.79380842
109CTCF_21964334_Chip-Seq_Bcells_Human0.79119700
110SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.78907870
111BCAT_22108803_ChIP-Seq_LS180_Human0.78895261
112MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.78744420
113PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.78259827
114PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.77906377
115GF1_26923725_Chip-Seq_HPCs_Mouse0.77788571
116SMAD4_21799915_ChIP-Seq_A2780_Human0.77287702
117SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.76802588
118ESR1_21235772_ChIP-Seq_MCF-7_Human0.76475894
119SMC1_22415368_ChIP-Seq_MEFs_Mouse0.76168191
120AR_21572438_ChIP-Seq_LNCaP_Human0.75892625
121YY1_22570637_ChIP-Seq_MALME-3M_Human0.75758701
122SALL4_18804426_ChIP-ChIP_XEN_Mouse0.75177192
123GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.74690424
124TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.74101358
125OCT4_21477851_ChIP-Seq_ESCs_Mouse0.73930056
126SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.73615492
127SOX2_21211035_ChIP-Seq_LN229_Gbm0.73079560
128DNAJC2_21179169_ChIP-ChIP_NT2_Human0.72207355
129P63_26484246_Chip-Seq_KERATINOCYTES_Human0.72007240
130SMAD4_21741376_ChIP-Seq_HESCs_Human0.71367081
131GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.71316710
132HTT_18923047_ChIP-ChIP_STHdh_Human0.71167888
133ZFP281_18757296_ChIP-ChIP_E14_Mouse0.71164163
134UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.70991478
135GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70813927
136EGR1_19032775_ChIP-ChIP_M12_Human0.70686667
137* BCL6_27268052_Chip-Seq_Bcells_Human0.70427703
138ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.70251857
139GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.69996458
140* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.69815296
141CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.69730703
142* BCOR_27268052_Chip-Seq_Bcells_Human0.69422423
143TP53_23651856_ChIP-Seq_MEFs_Mouse0.68795658

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.71564312
2MP0003646_muscle_fatigue6.27884318
3MP0000751_myopathy5.41119378
4MP0004084_abnormal_cardiac_muscle5.29474784
5MP0004215_abnormal_myocardial_fiber4.53388893
6MP0000749_muscle_degeneration4.28988515
7MP0004036_abnormal_muscle_relaxation4.27874728
8MP0005330_cardiomyopathy3.79760943
9MP0004087_abnormal_muscle_fiber3.20522280
10MP0002972_abnormal_cardiac_muscle2.95671335
11MP0004130_abnormal_muscle_cell2.94647306
12MP0004145_abnormal_muscle_electrophysio2.92162877
13MP0000750_abnormal_muscle_regeneration2.88249916
14MP0002106_abnormal_muscle_physiology2.79871318
15MP0005620_abnormal_muscle_contractility2.77953071
16MP0008775_abnormal_heart_ventricle2.73442253
17MP0003137_abnormal_impulse_conducting2.62891400
18MP0004484_altered_response_of2.61848423
19MP0002269_muscular_atrophy2.52979903
20MP0010630_abnormal_cardiac_muscle2.47043682
21* MP0001544_abnormal_cardiovascular_syste2.39102883
22* MP0005385_cardiovascular_system_phenoty2.39102883
23MP0000747_muscle_weakness2.36249962
24MP0005369_muscle_phenotype2.28086454
25MP0000759_abnormal_skeletal_muscle2.27368837
26MP0006138_congestive_heart_failure2.17709134
27MP0003828_pulmonary_edema1.99166361
28MP0003221_abnormal_cardiomyocyte_apopto1.98900470
29MP0006036_abnormal_mitochondrial_physio1.97485675
30MP0004085_abnormal_heartbeat1.92697056
31MP0004233_abnormal_muscle_weight1.82105749
32MP0004510_myositis1.76120868
33MP0002332_abnormal_exercise_endurance1.65145713
34MP0005666_abnormal_adipose_tissue1.58893811
35MP0003950_abnormal_plasma_membrane1.43092355
36MP0005670_abnormal_white_adipose1.25908098
37MP0000343_altered_response_to1.24396667
38MP0004185_abnormal_adipocyte_glucose1.22744558
39MP0006035_abnormal_mitochondrial_morpho1.13728840
40MP0005165_increased_susceptibility_to1.09073610
41MP0005375_adipose_tissue_phenotype1.07979301
42* MP0002127_abnormal_cardiovascular_syste1.07623430
43MP0002234_abnormal_pharynx_morphology1.07612303
44MP0003567_abnormal_fetal_cardiomyocyte1.05201174
45MP0002108_abnormal_muscle_morphology1.04826894
46* MP0000266_abnormal_heart_morphology1.04221758
47MP0001661_extended_life_span0.97419856
48MP0005266_abnormal_metabolism0.94224665
49MP0010368_abnormal_lymphatic_system0.91035918
50MP0003279_aneurysm0.82706405
51MP0003806_abnormal_nucleotide_metabolis0.78977730
52MP0004270_analgesia0.78522110
53MP0000733_abnormal_muscle_development0.78421486
54MP0004043_abnormal_pH_regulation0.77784191
55MP0002971_abnormal_brown_adipose0.70126739
56MP0004147_increased_porphyrin_level0.67853520
57* MP0000230_abnormal_systemic_arterial0.66747946
58MP0009780_abnormal_chondrocyte_physiolo0.65514753
59* MP0002128_abnormal_blood_circulation0.65469614
60MP0000013_abnormal_adipose_tissue0.65373430
61MP0000003_abnormal_adipose_tissue0.63561646
62MP0003705_abnormal_hypodermis_morpholog0.62567021
63MP0002909_abnormal_adrenal_gland0.61685892
64MP0001879_abnormal_lymphatic_vessel0.58899774
65MP0002078_abnormal_glucose_homeostasis0.56237586
66MP0003566_abnormal_cell_adhesion0.56118090
67MP0005623_abnormal_meninges_morphology0.55585458
68MP0005319_abnormal_enzyme/_coenzyme0.51725303
69MP0005187_abnormal_penis_morphology0.51023758
70MP0008569_lethality_at_weaning0.49360367
71MP0008961_abnormal_basal_metabolism0.49154034
72MP0002638_abnormal_pupillary_reflex0.48107352
73MP0000767_abnormal_smooth_muscle0.46938508
74MP0005275_abnormal_skin_tensile0.45442616
75MP0005535_abnormal_body_temperature0.42423852
76MP0001299_abnormal_eye_distance/0.41740937
77MP0005451_abnormal_body_composition0.41548975
78MP0002822_catalepsy0.41155004
79MP0000372_irregular_coat_pigmentation0.39656281
80MP0008438_abnormal_cutaneous_collagen0.36855701
81MP0003195_calcinosis0.36830515
82MP0005334_abnormal_fat_pad0.36649564
83MP0009840_abnormal_foam_cell0.35532342
84MP0002925_abnormal_cardiovascular_devel0.35172472
85MP0002118_abnormal_lipid_homeostasis0.31876341
86MP0005083_abnormal_biliary_tract0.31732290
87MP0005584_abnormal_enzyme/coenzyme_acti0.30506991
88MP0001614_abnormal_blood_vessel0.28961433
89MP0001984_abnormal_olfaction0.28756732
90MP0005386_behavior/neurological_phenoty0.28253698
91MP0004924_abnormal_behavior0.28253698
92MP0003948_abnormal_gas_homeostasis0.28088623
93MP0001853_heart_inflammation0.27829531
94MP0003656_abnormal_erythrocyte_physiolo0.27707754
95MP0003045_fibrosis0.27073170
96MP0003984_embryonic_growth_retardation0.26004107
97MP0001784_abnormal_fluid_regulation0.25348431
98MP0004272_abnormal_basement_membrane0.25014454
99MP0009115_abnormal_fat_cell0.25004115
100MP0002088_abnormal_embryonic_growth/wei0.24682323
101MP0005167_abnormal_blood-brain_barrier0.24567382
102MP0001727_abnormal_embryo_implantation0.23825349
103MP0009384_cardiac_valve_regurgitation0.23536839
104MP0003879_abnormal_hair_cell0.23428500
105MP0008004_abnormal_stomach_pH0.22370170
106MP0002877_abnormal_melanocyte_morpholog0.21706055
107MP0000249_abnormal_blood_vessel0.21393245
108MP0005332_abnormal_amino_acid0.21282173
109MP0005376_homeostasis/metabolism_phenot0.21074338
110MP0000762_abnormal_tongue_morphology0.21044088
111MP0005452_abnormal_adipose_tissue0.20548152
112MP0005595_abnormal_vascular_smooth0.20516089
113MP0005409_darkened_coat_color0.20261168
114MP0004134_abnormal_chest_morphology0.17521805
115MP0004142_abnormal_muscle_tone0.17271418
116MP0002896_abnormal_bone_mineralization0.17118044
117MP0008874_decreased_physiological_sensi0.16399063
118MP0002066_abnormal_motor_capabilities/c0.15370804
119MP0005166_decreased_susceptibility_to0.15273192
120MP0009672_abnormal_birth_weight0.15145963

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.16856885
2Calf muscle hypertrophy (HP:0008981)6.76004076
3Exercise-induced myalgia (HP:0003738)6.64693755
4Muscle hypertrophy of the lower extremities (HP:0008968)6.45636473
5Exercise-induced muscle cramps (HP:0003710)6.44572008
6Ventricular tachycardia (HP:0004756)6.41990198
7Muscle fiber splitting (HP:0003555)5.77704369
8Atrial fibrillation (HP:0005110)5.42977682
9Myoglobinuria (HP:0002913)5.42817840
10Abnormality of the calf musculature (HP:0001430)5.25982089
11Hyporeflexia of lower limbs (HP:0002600)5.19303661
12Primary atrial arrhythmia (HP:0001692)5.07810456
13Supraventricular tachycardia (HP:0004755)4.90956172
14Lipoatrophy (HP:0100578)4.80294577
15Supraventricular arrhythmia (HP:0005115)4.79825938
16Right ventricular cardiomyopathy (HP:0011663)4.52780321
17Centrally nucleated skeletal muscle fibers (HP:0003687)4.45099041
18Bundle branch block (HP:0011710)4.44147234
19Subaortic stenosis (HP:0001682)4.42095934
20Abnormality of the left ventricular outflow tract (HP:0011103)4.42095934
21EMG: myopathic abnormalities (HP:0003458)4.33618179
22Rhabdomyolysis (HP:0003201)4.20113709
23Increased connective tissue (HP:0009025)4.20056690
24Syncope (HP:0001279)4.18631857
25Palpitations (HP:0001962)4.15733496
26Difficulty running (HP:0009046)4.13646998
27Dilated cardiomyopathy (HP:0001644)4.10993837
28Asymmetric septal hypertrophy (HP:0001670)3.90774784
29Muscle fiber inclusion bodies (HP:0100299)3.88910334
30Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.74185874
31Prolonged QT interval (HP:0001657)3.70595190
32Myotonia (HP:0002486)3.67882572
33Heart block (HP:0012722)3.65310228
34Ventricular arrhythmia (HP:0004308)3.51865096
35Abnormal atrioventricular conduction (HP:0005150)3.44683403
36Atrioventricular block (HP:0001678)3.37436984
37Ulnar deviation of the wrist (HP:0003049)3.30154559
38Abnormal mitochondria in muscle tissue (HP:0008316)3.18491366
39Acute necrotizing encephalopathy (HP:0006965)3.15199927
40Difficulty climbing stairs (HP:0003551)3.12579374
41Type 1 muscle fiber predominance (HP:0003803)3.09573583
42Muscle stiffness (HP:0003552)3.09544440
43Nemaline bodies (HP:0003798)3.07952454
44Frequent falls (HP:0002359)3.06962346
45Hepatic necrosis (HP:0002605)3.05618113
46Ventricular fibrillation (HP:0001663)3.02555614
47Mildly elevated creatine phosphokinase (HP:0008180)2.96944054
48Distal lower limb muscle weakness (HP:0009053)2.92958772
49Areflexia of lower limbs (HP:0002522)2.84793136
50Increased variability in muscle fiber diameter (HP:0003557)2.84258473
51Ketoacidosis (HP:0001993)2.83094845
52Calcaneovalgus deformity (HP:0001848)2.82921252
53Acute encephalopathy (HP:0006846)2.74227337
54Abnormality of skeletal muscle fiber size (HP:0012084)2.73147505
55Left ventricular hypertrophy (HP:0001712)2.70707404
56Hypoglycemic coma (HP:0001325)2.65898398
57Abnormal EKG (HP:0003115)2.65776564
58Hepatocellular necrosis (HP:0001404)2.64283607
59Progressive macrocephaly (HP:0004481)2.63841648
60Absent phalangeal crease (HP:0006109)2.62193087
61Neck muscle weakness (HP:0000467)2.55202974
62Limb-girdle muscle atrophy (HP:0003797)2.51235883
63Cerebral edema (HP:0002181)2.50804334
64Scapular winging (HP:0003691)2.50686644
65Rimmed vacuoles (HP:0003805)2.50457221
66Increased muscle lipid content (HP:0009058)2.48524999
67Deformed tarsal bones (HP:0008119)2.48520133
68Mitochondrial inheritance (HP:0001427)2.48412153
69Abnormality of fatty-acid metabolism (HP:0004359)2.45982182
70Bulbar palsy (HP:0001283)2.44994325
71Abnormality of dicarboxylic acid metabolism (HP:0010995)2.43913889
72Dicarboxylic aciduria (HP:0003215)2.43913889
73Palmoplantar keratoderma (HP:0000982)2.41286874
74Testicular atrophy (HP:0000029)2.37056456
75Increased CSF lactate (HP:0002490)2.35988267
76Progressive muscle weakness (HP:0003323)2.35633472
77Abnormality of alanine metabolism (HP:0010916)2.33374247
78Hyperalaninemia (HP:0003348)2.33374247
79Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.33374247
80Conjunctival hamartoma (HP:0100780)2.33305666
81Exercise intolerance (HP:0003546)2.28053474
82Lower limb amyotrophy (HP:0007210)2.26431164
83Malignant hyperthermia (HP:0002047)2.18006322
84Lactic acidosis (HP:0003128)2.17992073
85Increased intramyocellular lipid droplets (HP:0012240)2.17937298
86Distal lower limb amyotrophy (HP:0008944)2.16054558
87Hypoplastic ischia (HP:0003175)2.15971908
88Abnormal finger flexion creases (HP:0006143)2.13749817
89Facial diplegia (HP:0001349)2.13123501
90Ketosis (HP:0001946)2.11597701
91Muscular dystrophy (HP:0003560)2.11145979
92Weak cry (HP:0001612)2.11019086
93Respiratory failure (HP:0002878)2.09805576
94Pheochromocytoma (HP:0002666)2.08246943
95Distal arthrogryposis (HP:0005684)2.05845517
96Abnormality of the shoulder girdle musculature (HP:0001435)2.02764715
97Gowers sign (HP:0003391)2.01435170
98Myopathic facies (HP:0002058)2.01053860
99Ragged-red muscle fibers (HP:0003200)1.98215599
100EMG: neuropathic changes (HP:0003445)1.96730602
101Foot dorsiflexor weakness (HP:0009027)1.95428351
102Abnormality of the foot musculature (HP:0001436)1.94952185
103Generalized muscle weakness (HP:0003324)1.91121286
104Large for gestational age (HP:0001520)1.90657051
105Esophageal neoplasm (HP:0100751)1.89718162
106Neoplasm of head and neck (HP:0012288)1.89718162
107Round ear (HP:0100830)1.89700062
108Hamartoma of the eye (HP:0010568)1.88398325
109Abnormality of the ischium (HP:0003174)1.88031778
110Waddling gait (HP:0002515)1.87958693
111Neuroendocrine neoplasm (HP:0100634)1.87326705
112Proximal amyotrophy (HP:0007126)1.87150983
113Hip contracture (HP:0003273)1.87093438
114Hyperinsulinemic hypoglycemia (HP:0000825)1.86698840
115Congestive heart failure (HP:0001635)1.86641737
116Sudden cardiac death (HP:0001645)1.84870510
117Hyperkalemia (HP:0002153)1.84734928
118Dysmetric saccades (HP:0000641)1.84053910
119Spinal rigidity (HP:0003306)1.81592146
120Respiratory insufficiency due to muscle weakness (HP:0002747)1.80115409
121Fatigable weakness (HP:0003473)1.77436033
122Abnormality of the neuromuscular junction (HP:0003398)1.77436033
123Slender build (HP:0001533)1.75493425
124Steppage gait (HP:0003376)1.74716244
125Fetal akinesia sequence (HP:0001989)1.65844469
126Limb-girdle muscle weakness (HP:0003325)1.59127324
127Increased serum pyruvate (HP:0003542)1.55404084
128Abnormality of the calcaneus (HP:0008364)1.49119131
129Abnormality of glycolysis (HP:0004366)1.45684948
130Abnormality of the tricuspid valve (HP:0001702)1.43149245
131Oligomenorrhea (HP:0000876)1.40391957

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.78853268
2OBSCN5.05805210
3PHKG14.45100769
4PHKG24.45100769
5PDK43.73493843
6PDK33.73493843
7LMTK23.48592018
8MYLK3.00026679
9DMPK2.79639491
10BCKDK2.63968805
11PKN22.63669539
12TRIB32.49111686
13PINK12.36321222
14NEK12.33790384
15PDK22.33604896
16MUSK2.20562796
17PIK3CA2.12417176
18TIE11.82200074
19GRK71.61135035
20STK241.47723564
21MARK11.30959472
22MAP3K71.25712364
23MAP2K31.23672232
24PAK31.21888159
25CAMK2D1.18665179
26PRKD11.16771631
27LIMK11.13606363
28MAPK121.09579166
29NME10.93453167
30ILK0.89287528
31PRKAA10.88685476
32EEF2K0.86959897
33MAPKAPK30.84566265
34PRKAA20.84411376
35ROCK10.81293034
36INSRR0.79475914
37STK40.79370556
38TRPM70.78792241
39ZAK0.75816228
40PKN10.74864030
41FLT30.74804025
42RIPK10.74573063
43WNK40.73296626
44CAMK40.71612725
45MAP3K60.71208963
46PIK3CG0.71088301
47MAP3K50.70800781
48CDC42BPA0.68849460
49MAP3K30.67464081
50STK38L0.63823790
51NEK90.62781379
52PDGFRA0.61767250
53MAPK40.58839125
54CAMK2B0.56260848
55EPHA30.55997041
56NME20.55910364
57CAMK2A0.55757210
58STK380.54037616
59ERBB30.53526919
60MAP2K10.53079947
61TGFBR20.52535740
62DAPK30.52438250
63EPHB10.51739929
64MOS0.51583327
65ROCK20.48969529
66KDR0.48564880
67WNK10.48327587
68CCNB10.47730253
69PRKACB0.47372116
70RPS6KC10.45733091
71RPS6KL10.45733091
72DYRK1B0.44596421
73CAMK2G0.43726583
74CAMK10.42929967
75MAP2K40.40529573
76KSR20.39895499
77PDPK10.38534700
78AKT20.38522284
79RPS6KA60.38447035
80PRKACA0.37724595
81PRKACG0.36577116
82PDK10.33651754
83PTK2B0.32124463
84MAP2K60.32019396
85PRKCE0.31824738
86ICK0.31709508
87SGK20.31572611
88PTK60.28072606
89MAP3K130.26657825
90RPS6KA10.25414074
91PRKCH0.25327130
92STK390.24052430
93MAPK100.22742429
94MAPK110.21521331
95SIK10.21511130
96SGK10.20507998
97TAOK10.19724315
98RET0.19499659
99JAK10.19284881
100SGK30.18831187
101ZAP700.18468702
102PRKG10.18123719
103NLK0.16878856
104PRPF4B0.16766750
105FER0.15853147
106LATS20.15843701
107RPS6KA30.15800767
108MARK30.15383310
109FGFR40.15130533
110TBK10.15095518
111MAP3K10.14839272
112LATS10.14665132
113RPS6KB20.13602295
114SGK2230.13533355
115SGK4940.13533355
116PRKD30.13433489
117MAP3K110.13306438
118MARK20.13264503
119MTOR0.12963791
120MAPK70.12503242
121LRRK20.12163081
122STK110.11733357
123JAK20.10174324
124PRKG20.09963704
125EPHB20.09874467
126PAK60.09266650
127RPS6KB10.08906173
128FGFR30.07458428
129MAPK90.06286429

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.00377582
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.30593497
3Cardiac muscle contraction_Homo sapiens_hsa042604.07258213
4Dilated cardiomyopathy_Homo sapiens_hsa054143.48141047
5Propanoate metabolism_Homo sapiens_hsa006403.47927533
6Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.44701197
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.39771559
8Parkinsons disease_Homo sapiens_hsa050123.26082109
9Oxidative phosphorylation_Homo sapiens_hsa001903.19969081
10Fatty acid degradation_Homo sapiens_hsa000712.97965528
11Carbon metabolism_Homo sapiens_hsa012002.54308184
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.51406283
13Alzheimers disease_Homo sapiens_hsa050102.46627090
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.43856723
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.27386343
16Fatty acid metabolism_Homo sapiens_hsa012122.26270142
17Huntingtons disease_Homo sapiens_hsa050162.00178971
18Pyruvate metabolism_Homo sapiens_hsa006201.86943264
19Viral myocarditis_Homo sapiens_hsa054161.62106081
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56013740
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.55298037
22Butanoate metabolism_Homo sapiens_hsa006501.50346574
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33878783
24Fatty acid elongation_Homo sapiens_hsa000621.32349078
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.31288656
26Starch and sucrose metabolism_Homo sapiens_hsa005001.17632516
27Insulin resistance_Homo sapiens_hsa049311.12457640
28Biosynthesis of amino acids_Homo sapiens_hsa012301.12404486
29PPAR signaling pathway_Homo sapiens_hsa033201.09302957
30Glucagon signaling pathway_Homo sapiens_hsa049221.06725636
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.05218781
32Insulin signaling pathway_Homo sapiens_hsa049100.96921921
33cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91215748
34Tryptophan metabolism_Homo sapiens_hsa003800.84035299
35Arginine biosynthesis_Homo sapiens_hsa002200.82255003
36beta-Alanine metabolism_Homo sapiens_hsa004100.81406432
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.81001915
38Calcium signaling pathway_Homo sapiens_hsa040200.80642297
39AMPK signaling pathway_Homo sapiens_hsa041520.73866943
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.70962407
41Oxytocin signaling pathway_Homo sapiens_hsa049210.69706658
42Lysine degradation_Homo sapiens_hsa003100.68129030
43HIF-1 signaling pathway_Homo sapiens_hsa040660.64272954
44Galactose metabolism_Homo sapiens_hsa000520.62746177
45Peroxisome_Homo sapiens_hsa041460.59853864
46Focal adhesion_Homo sapiens_hsa045100.59585869
47Type II diabetes mellitus_Homo sapiens_hsa049300.58536933
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.56741282
49Fatty acid biosynthesis_Homo sapiens_hsa000610.55454141
50Phenylalanine metabolism_Homo sapiens_hsa003600.53388163
51Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.50135628
52Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49260031
53Fructose and mannose metabolism_Homo sapiens_hsa000510.48175522
54Long-term potentiation_Homo sapiens_hsa047200.47715207
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.47286610
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45347805
57Circadian rhythm_Homo sapiens_hsa047100.41840160
58Tight junction_Homo sapiens_hsa045300.41618284
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.41123252
60Renin secretion_Homo sapiens_hsa049240.40828995
61Gastric acid secretion_Homo sapiens_hsa049710.40293115
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40100666
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38627747
64Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37524558
65Salivary secretion_Homo sapiens_hsa049700.35097356
66cAMP signaling pathway_Homo sapiens_hsa040240.34186856
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32951238
68* Arginine and proline metabolism_Homo sapiens_hsa003300.32387939
69Insulin secretion_Homo sapiens_hsa049110.30492633
70Nitrogen metabolism_Homo sapiens_hsa009100.30329540
71Amphetamine addiction_Homo sapiens_hsa050310.29201948
72Regulation of autophagy_Homo sapiens_hsa041400.28395164
73Fat digestion and absorption_Homo sapiens_hsa049750.27825345
74ECM-receptor interaction_Homo sapiens_hsa045120.27550582
75* Metabolic pathways_Homo sapiens_hsa011000.26586178
76Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.26420364
77Cysteine and methionine metabolism_Homo sapiens_hsa002700.21695580
78Adherens junction_Homo sapiens_hsa045200.21078551
79Sulfur relay system_Homo sapiens_hsa041220.20454053
80Histidine metabolism_Homo sapiens_hsa003400.19960579
81Amoebiasis_Homo sapiens_hsa051460.19664615
82Renal cell carcinoma_Homo sapiens_hsa052110.17383385
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17205613
84GABAergic synapse_Homo sapiens_hsa047270.17147592
85Tyrosine metabolism_Homo sapiens_hsa003500.17074396
86Regulation of actin cytoskeleton_Homo sapiens_hsa048100.16318922
87Melanogenesis_Homo sapiens_hsa049160.16286099
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.15993353
89Circadian entrainment_Homo sapiens_hsa047130.15856846
90VEGF signaling pathway_Homo sapiens_hsa043700.14835993
91Platelet activation_Homo sapiens_hsa046110.14400473
92GnRH signaling pathway_Homo sapiens_hsa049120.13620742
93mTOR signaling pathway_Homo sapiens_hsa041500.12687118
94Dorso-ventral axis formation_Homo sapiens_hsa043200.11584585
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.11002484
96Leukocyte transendothelial migration_Homo sapiens_hsa046700.10861058
97Pancreatic secretion_Homo sapiens_hsa049720.10136810
98Glycerolipid metabolism_Homo sapiens_hsa005610.09403552
99FoxO signaling pathway_Homo sapiens_hsa040680.08386883
100Proteoglycans in cancer_Homo sapiens_hsa052050.07895538
101Olfactory transduction_Homo sapiens_hsa047400.07830141
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.07145788
103Cholinergic synapse_Homo sapiens_hsa047250.05898884
104Dopaminergic synapse_Homo sapiens_hsa047280.05513348
105Linoleic acid metabolism_Homo sapiens_hsa005910.05480258
106Gap junction_Homo sapiens_hsa045400.05381709
107Pentose phosphate pathway_Homo sapiens_hsa000300.05068980
108Ovarian steroidogenesis_Homo sapiens_hsa049130.04993415
109Bile secretion_Homo sapiens_hsa049760.04214051
110MAPK signaling pathway_Homo sapiens_hsa040100.01777300
111Toxoplasmosis_Homo sapiens_hsa051450.01098371
112Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964-0.0194350
113Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0163888
114Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962-0.0116212
115ABC transporters_Homo sapiens_hsa02010-0.0047825
116alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0027548
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933-0.0025290

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