MYBPC2

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





Description: This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* actin-mediated cell contraction (GO:0070252)9.77449950
2skeletal muscle fiber development (GO:0048741)7.95463664
3* actin filament-based movement (GO:0030048)7.27159819
4positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.25877198
5glycogen catabolic process (GO:0005980)7.01082096
6plasma membrane repair (GO:0001778)6.99721257
7sarcomere organization (GO:0045214)6.86446540
8myotube cell development (GO:0014904)6.78467176
9creatine metabolic process (GO:0006600)6.71991908
10response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.69644451
11striated muscle contraction (GO:0006941)6.66965961
12glucan catabolic process (GO:0009251)6.56507401
13skeletal muscle tissue regeneration (GO:0043403)6.52781393
14striated muscle atrophy (GO:0014891)6.22101615
15carnitine shuttle (GO:0006853)6.21302020
16cellular polysaccharide catabolic process (GO:0044247)6.11251287
17myofibril assembly (GO:0030239)6.05086415
18polysaccharide catabolic process (GO:0000272)5.83947949
19purine nucleotide salvage (GO:0032261)5.81592995
20regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.79879110
21response to muscle activity (GO:0014850)5.77308579
22regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.76886359
23pyrimidine ribonucleoside catabolic process (GO:0046133)5.72787367
24regulation of cell communication by electrical coupling (GO:0010649)5.68748558
25response to inactivity (GO:0014854)5.63391613
26muscle contraction (GO:0006936)5.53875204
27cytidine deamination (GO:0009972)5.48040116
28cytidine metabolic process (GO:0046087)5.48040116
29cytidine catabolic process (GO:0006216)5.48040116
30muscle atrophy (GO:0014889)5.38028935
31striated muscle adaptation (GO:0014888)5.36402143
32fatty acid transmembrane transport (GO:1902001)5.25138672
33glucan biosynthetic process (GO:0009250)5.19932928
34glycogen biosynthetic process (GO:0005978)5.19932928
35IMP metabolic process (GO:0046040)5.13200165
36NADH metabolic process (GO:0006734)5.07451307
37muscle system process (GO:0003012)4.94569592
38muscle fiber development (GO:0048747)4.88924133
39regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.87688409
40positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.80930928
41actomyosin structure organization (GO:0031032)4.76620724
42glycogen metabolic process (GO:0005977)4.63150179
43fructose metabolic process (GO:0006000)4.62674982
44negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.61756741
45carnitine transmembrane transport (GO:1902603)4.60289853
46cellular glucan metabolic process (GO:0006073)4.53867360
47glucan metabolic process (GO:0044042)4.53867360
48negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.50055728
49cardiac muscle hypertrophy (GO:0003300)4.45116546
50regulation of acyl-CoA biosynthetic process (GO:0050812)4.43647486
51negative regulation of muscle hypertrophy (GO:0014741)4.36509883
52muscle adaptation (GO:0043500)4.34892274
53muscle cell fate commitment (GO:0042693)4.25876044
54striated muscle hypertrophy (GO:0014897)4.24797892
55carnitine transport (GO:0015879)4.20309016
56amino-acid betaine transport (GO:0015838)4.20309016
57gluconeogenesis (GO:0006094)4.15975076
582-oxoglutarate metabolic process (GO:0006103)4.15876945
59muscle organ morphogenesis (GO:0048644)4.14134764
60cardiac muscle contraction (GO:0060048)4.07350961
61negative regulation of skeletal muscle tissue development (GO:0048642)4.05585088
62response to activity (GO:0014823)4.04899626
63regulation of coenzyme metabolic process (GO:0051196)4.00871853
64regulation of cofactor metabolic process (GO:0051193)4.00871853
65IMP biosynthetic process (GO:0006188)3.98779672
66neuronal action potential propagation (GO:0019227)3.93328395
67cellular carbohydrate catabolic process (GO:0044275)3.92746859
68cellular response to dexamethasone stimulus (GO:0071549)3.90218827
69regulation of skeletal muscle cell differentiation (GO:2001014)3.86503526
70regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.84713065
71muscle hypertrophy (GO:0014896)3.80785526
72muscle tissue morphogenesis (GO:0060415)3.79410437
73regulation of relaxation of muscle (GO:1901077)3.73391153
74hexose biosynthetic process (GO:0019319)3.73382237
75striated muscle cell development (GO:0055002)3.73121792
76muscle organ development (GO:0007517)3.73042413
77muscle cell cellular homeostasis (GO:0046716)3.70683338
78muscle structure development (GO:0061061)3.67943719
79tricarboxylic acid cycle (GO:0006099)3.67832570
80response to dexamethasone (GO:0071548)3.63403887
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.60751726
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.60751726
83regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.58379687
84adult heart development (GO:0007512)3.58203632
85neuromuscular synaptic transmission (GO:0007274)3.56691716
86negative regulation of muscle contraction (GO:0045932)3.55587073
87cardiac muscle tissue morphogenesis (GO:0055008)3.52612975
88negative regulation of potassium ion transmembrane transport (GO:1901380)3.50183474
89myotube differentiation (GO:0014902)3.45127204
90regulation of actin filament-based movement (GO:1903115)3.44883685
91regulation of striated muscle contraction (GO:0006942)3.42560857
92regulation of calcium ion transmembrane transport (GO:1903169)3.40677222
93regulation of calcium ion transmembrane transporter activity (GO:1901019)3.40677222
94ubiquinone biosynthetic process (GO:0006744)3.38626205
95striated muscle tissue development (GO:0014706)3.38461364
96syncytium formation by plasma membrane fusion (GO:0000768)3.38050626
97skeletal muscle tissue development (GO:0007519)3.35739898
98cardiac muscle adaptation (GO:0014887)3.35110027
99cardiac muscle hypertrophy in response to stress (GO:0014898)3.35110027
100muscle hypertrophy in response to stress (GO:0003299)3.35110027
101heart process (GO:0003015)3.34479528
102heart contraction (GO:0060047)3.34479528
103cardiac myofibril assembly (GO:0055003)3.33129429
104regulation of sulfur metabolic process (GO:0042762)3.31821859
105positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.29329836
106relaxation of muscle (GO:0090075)3.29298302
107regulation of myoblast differentiation (GO:0045661)3.25389445
108cellular polysaccharide metabolic process (GO:0044264)3.24162219
109negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.23131374
110regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.20414388
111positive regulation of cation channel activity (GO:2001259)3.20048744
112positive regulation of myotube differentiation (GO:0010831)3.19525930
113muscle cell development (GO:0055001)3.17984115
114negative regulation of cAMP-mediated signaling (GO:0043951)3.13762950
115myoblast fusion (GO:0007520)3.11810616
116intracellular lipid transport (GO:0032365)3.07000212
117cellular polysaccharide biosynthetic process (GO:0033692)3.06775162
118cardiac muscle cell development (GO:0055013)3.06459891
119neuromuscular junction development (GO:0007528)3.02904735
120polysaccharide biosynthetic process (GO:0000271)3.02155779
121regulation of skeletal muscle contraction (GO:0014819)12.7212155
122* muscle filament sliding (GO:0030049)11.9882218
123* actin-myosin filament sliding (GO:0033275)11.9882218
124skeletal muscle contraction (GO:0003009)10.8647505
125skeletal muscle adaptation (GO:0043501)10.2983272
126sarcoplasmic reticulum calcium ion transport (GO:0070296)10.2133975

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.69463045
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.04495870
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.50674604
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.39695380
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.15328400
6TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.15267047
7ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.84668793
8ZNF263_19887448_ChIP-Seq_K562_Human2.84560326
9BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.59770136
10TBX20_22080862_ChIP-Seq_HEART_Mouse2.57296273
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.57296273
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.30639606
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.30295885
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.24616386
15MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.87428228
16CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.86842845
17CTCF_21964334_ChIP-Seq_BJAB-B_Human1.83095305
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.82696035
19RBPJ_22232070_ChIP-Seq_NCS_Mouse1.81322654
20ESR1_21235772_ChIP-Seq_MCF-7_Human1.80678986
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.77373118
22BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.72539021
23CTCF_27219007_Chip-Seq_Bcells_Human1.72377559
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.64864334
25EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.62818725
26CLOCK_20551151_ChIP-Seq_293T_Human1.59730069
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58328622
28ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.54242547
29* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.52633548
30P63_26484246_Chip-Seq_KERATINOCYTES_Human1.50572386
31ZNF274_21170338_ChIP-Seq_K562_Hela1.49339326
32NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.48228233
33EP300_21415370_ChIP-Seq_HL-1_Mouse1.47533880
34PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.46518927
35TP63_17297297_ChIP-ChIP_HaCaT_Human1.44851768
36ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.43622739
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40050756
38SA1_27219007_Chip-Seq_Bcells_Human1.37749976
39PPARA_22158963_ChIP-Seq_LIVER_Mouse1.37183836
40FOXH1_21741376_ChIP-Seq_ESCs_Human1.37009775
41KDM2B_26808549_Chip-Seq_DND41_Human1.36728038
42STAT1_20625510_ChIP-Seq_HELA_Human1.33678237
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33347426
44TDRD3_21172665_ChIP-Seq_MCF-7_Human1.33203288
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.32356504
46* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29989498
47YY1_22570637_ChIP-Seq_MALME-3M_Human1.28323255
48STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.24732089
49CTCF_21964334_Chip-Seq_Bcells_Human1.21953105
50EZH2_22144423_ChIP-Seq_EOC_Human1.21942273
51OCT4_20526341_ChIP-Seq_ESCs_Human1.21537754
52IGF1R_20145208_ChIP-Seq_DFB_Human1.19227709
53SMC3_22415368_ChIP-Seq_MEFs_Mouse1.18576110
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.17252174
55SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.17237892
56GATA4_21415370_ChIP-Seq_HL-1_Mouse1.15794736
57LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15000356
58RACK7_27058665_Chip-Seq_MCF-7_Human1.14439427
59UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.13554359
60RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12945895
61* RARB_27405468_Chip-Seq_BRAIN_Mouse1.11989761
62P68_20966046_ChIP-Seq_HELA_Human1.11603735
63* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.11499952
64NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.11217818
65RXR_22158963_ChIP-Seq_LIVER_Mouse1.08633249
66NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.08483928
67SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06799854
68GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.06642602
69ELF1_20517297_ChIP-Seq_JURKAT_Human1.05450183
70* CREB1_26743006_Chip-Seq_LNCaP_Human1.05299133
71CRX_20693478_ChIP-Seq_RETINA_Mouse1.05182354
72E2F1_20622854_ChIP-Seq_HELA_Human1.04981893
73SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04845884
74NANOG_20526341_ChIP-Seq_ESCs_Human1.03176262
75* LXR_22292898_ChIP-Seq_THP-1_Human1.02896361
76RAC3_21632823_ChIP-Seq_H3396_Human1.02818005
77FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.01743096
78CBX2_27304074_Chip-Seq_ESCs_Mouse1.01218671
79ATF3_27146783_Chip-Seq_COLON_Human1.00443516
80CEBPB_22108803_ChIP-Seq_LS180_Human0.98595290
81GATA1_19941827_ChIP-Seq_MEL_Mouse0.98514206
82* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.98167702
83TP63_22573176_ChIP-Seq_HFKS_Human0.98161912
84* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.97267110
85KDM2B_26808549_Chip-Seq_SUP-B15_Human0.97167001
86TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96599057
87CBP_20019798_ChIP-Seq_JUKART_Human0.96456109
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96456109
89MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96055765
90KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.95807034
91SPI1_20517297_ChIP-Seq_HL60_Human0.95792550
92BCL6_27268052_Chip-Seq_Bcells_Human0.95750512
93TP53_20018659_ChIP-ChIP_R1E_Mouse0.95737996
94ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95523287
95LXR_22158963_ChIP-Seq_LIVER_Mouse0.95109816
96STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95056839
97* TCF7_22412390_ChIP-Seq_EML_Mouse0.95052109
98ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.95006894
99STAT6_21828071_ChIP-Seq_BEAS2B_Human0.94640115
100OCT4_21477851_ChIP-Seq_ESCs_Mouse0.93967406
101PCGF2_27294783_Chip-Seq_ESCs_Mouse0.93904933
102EZH2_27294783_Chip-Seq_NPCs_Mouse0.93420410
103SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.92628853
104CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.92099310
105* MYC_27129775_Chip-Seq_CORNEA_Mouse0.92009617
106* DROSHA_22980978_ChIP-Seq_HELA_Human0.91844191
107HIF1A_21447827_ChIP-Seq_MCF-7_Human0.91306846
108P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90672790
109NFIB_24661679_ChIP-Seq_LUNG_Mouse0.90659275
110* CTCF_26484167_Chip-Seq_Bcells_Mouse0.90092425
111AUTS2_25519132_ChIP-Seq_293T-REX_Human0.89934610
112EZH2_27294783_Chip-Seq_ESCs_Mouse0.89520241
113KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.87030381
114P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.86635200
115KLF4_19829295_ChIP-Seq_ESCs_Human0.86506820
116EGR1_19032775_ChIP-ChIP_M12_Human0.85855007
117ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.85707056
118PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.85369651
119GATA6_21074721_ChIP-Seq_CACO-2_Human0.84345634
120CJUN_26792858_Chip-Seq_BT549_Human0.84050347
121* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.83679001
122CSB_26484114_Chip-Seq_FIBROBLAST_Human0.83592323
123FLI1_27457419_Chip-Seq_LIVER_Mouse0.82217541
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82113136
125ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82097412
126ELK3_25401928_ChIP-Seq_HUVEC_Human0.82077254
127FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.81260089
128RAD21_21589869_ChIP-Seq_MESCs_Mouse0.77701780
129GATA3_21867929_ChIP-Seq_CD8_Mouse0.76220266
130EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.74140332
131* DPY_21335234_ChIP-Seq_ESCs_Mouse0.71426787
132* LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.70377982
133SOX2_21211035_ChIP-Seq_LN229_Gbm0.69689143
134LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.69200478
135NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69061786
136NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69061786
137HTT_18923047_ChIP-ChIP_STHdh_Human0.69013583
138TRIM28_21343339_ChIP-Seq_HEK293_Human0.68600738
139GATA1_19941827_ChIP-Seq_MEL86_Mouse0.68425169
140CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.68043162

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.85406928
2MP0003646_muscle_fatigue6.50171253
3MP0000749_muscle_degeneration6.29349946
4MP0000751_myopathy5.66604988
5MP0000747_muscle_weakness4.45164893
6MP0002106_abnormal_muscle_physiology4.22515820
7MP0004036_abnormal_muscle_relaxation4.15522995
8MP0000759_abnormal_skeletal_muscle3.80469529
9MP0002837_dystrophic_cardiac_calcinosis3.78937568
10MP0002269_muscular_atrophy3.55770171
11MP0005369_muscle_phenotype3.52002073
12MP0004130_abnormal_muscle_cell3.42189781
13MP0004087_abnormal_muscle_fiber3.41548730
14MP0000750_abnormal_muscle_regeneration3.25851692
15MP0005620_abnormal_muscle_contractility3.17759270
16MP0004233_abnormal_muscle_weight2.56715603
17MP0000733_abnormal_muscle_development2.26958580
18MP0002332_abnormal_exercise_endurance2.24084959
19MP0002108_abnormal_muscle_morphology2.03812443
20MP0005330_cardiomyopathy1.93455858
21MP0006036_abnormal_mitochondrial_physio1.89335707
22MP0004185_abnormal_adipocyte_glucose1.87658374
23MP0004084_abnormal_cardiac_muscle1.82980960
24MP0005666_abnormal_adipose_tissue1.52384014
25MP0004215_abnormal_myocardial_fiber1.41457628
26MP0002971_abnormal_brown_adipose1.37857950
27MP0002972_abnormal_cardiac_muscle1.32692053
28MP0005275_abnormal_skin_tensile1.26556427
29MP0004270_analgesia1.23383928
30MP0010630_abnormal_cardiac_muscle1.23219272
31MP0004484_altered_response_of1.22314388
32MP0003221_abnormal_cardiomyocyte_apopto1.20622944
33MP0003806_abnormal_nucleotide_metabolis1.16761553
34MP0005375_adipose_tissue_phenotype1.12596703
35MP0003705_abnormal_hypodermis_morpholog1.11693823
36MP0005266_abnormal_metabolism1.04081936
37MP0002822_catalepsy1.02199947
38MP0001661_extended_life_span1.01892730
39MP0000013_abnormal_adipose_tissue0.98421489
40MP0006035_abnormal_mitochondrial_morpho0.97707168
41MP0003950_abnormal_plasma_membrane0.96761918
42MP0005385_cardiovascular_system_phenoty0.94511971
43MP0001544_abnormal_cardiovascular_syste0.94511971
44MP0004134_abnormal_chest_morphology0.84349152
45MP0005670_abnormal_white_adipose0.80847896
46MP0003137_abnormal_impulse_conducting0.79004655
47MP0003656_abnormal_erythrocyte_physiolo0.75615702
48MP0009780_abnormal_chondrocyte_physiolo0.75527316
49MP0002234_abnormal_pharynx_morphology0.74287680
50MP0005334_abnormal_fat_pad0.67072457
51MP0009250_abnormal_appendicular_skeleto0.66480238
52MP0004147_increased_porphyrin_level0.66253292
53MP0008961_abnormal_basal_metabolism0.65303202
54MP0004043_abnormal_pH_regulation0.64945793
55MP0000762_abnormal_tongue_morphology0.64245590
56MP0002078_abnormal_glucose_homeostasis0.61858610
57MP0001299_abnormal_eye_distance/0.61327688
58MP0000372_irregular_coat_pigmentation0.61248491
59MP0008775_abnormal_heart_ventricle0.60429933
60MP0000003_abnormal_adipose_tissue0.59656773
61MP0003879_abnormal_hair_cell0.55857899
62MP0000343_altered_response_to0.54658018
63MP0000266_abnormal_heart_morphology0.54631419
64MP0002796_impaired_skin_barrier0.53642795
65MP0002127_abnormal_cardiovascular_syste0.51608071
66MP0010030_abnormal_orbit_morphology0.49283484
67MP0001849_ear_inflammation0.46753241
68MP0005452_abnormal_adipose_tissue0.46636930
69MP0000579_abnormal_nail_morphology0.46132376
70MP0001346_abnormal_lacrimal_gland0.45696739
71MP0002089_abnormal_postnatal_growth/wei0.45600393
72MP0006138_congestive_heart_failure0.45584068
73MP0005584_abnormal_enzyme/coenzyme_acti0.44811581
74MP0009672_abnormal_birth_weight0.42949832
75MP0003959_abnormal_lean_body0.42837038
76MP0002896_abnormal_bone_mineralization0.42512928
77MP0003045_fibrosis0.42177699
78MP0005083_abnormal_biliary_tract0.41677048
79MP0005503_abnormal_tendon_morphology0.41364141
80MP0008569_lethality_at_weaning0.41013877
81MP0002638_abnormal_pupillary_reflex0.37890786
82MP0005167_abnormal_blood-brain_barrier0.36634379
83MP0005166_decreased_susceptibility_to0.35751764
84MP0005319_abnormal_enzyme/_coenzyme0.34308183
85MP0009115_abnormal_fat_cell0.34207209
86MP0000383_abnormal_hair_follicle0.33867119
87MP0001243_abnormal_dermal_layer0.33219765
88MP0004510_myositis0.32806037
89MP0003948_abnormal_gas_homeostasis0.31464042
90MP0008438_abnormal_cutaneous_collagen0.31273635
91MP0002734_abnormal_mechanical_nocicepti0.30670256
92MP0004085_abnormal_heartbeat0.29985081
93MP0002114_abnormal_axial_skeleton0.29234332
94MP0004142_abnormal_muscle_tone0.29041974
95MP0000230_abnormal_systemic_arterial0.29035452
96MP0005332_abnormal_amino_acid0.28856685
97MP0003828_pulmonary_edema0.28796465
98MP0005423_abnormal_somatic_nervous0.26895118
99MP0002118_abnormal_lipid_homeostasis0.26290565
100MP0005451_abnormal_body_composition0.24628230
101MP0005535_abnormal_body_temperature0.24535549
102MP0003567_abnormal_fetal_cardiomyocyte0.23714558
103MP0005376_homeostasis/metabolism_phenot0.22889910
104MP0002066_abnormal_motor_capabilities/c0.22172561
105MP0002128_abnormal_blood_circulation0.21672335
106MP0002060_abnormal_skin_morphology0.21286906
107MP0001853_heart_inflammation0.20258788
108MP0008770_decreased_survivor_rate0.19811475
109MP0005165_increased_susceptibility_to0.19441357
110MP0004858_abnormal_nervous_system0.18161051
111MP0002970_abnormal_white_adipose0.18023042
112MP0005501_abnormal_skin_physiology0.17999260
113MP0000427_abnormal_hair_cycle0.17319094
114MP0001943_abnormal_respiration0.17239058
115MP0010678_abnormal_skin_adnexa0.17078095
116MP0000678_abnormal_parathyroid_gland0.16279699
117MP0005187_abnormal_penis_morphology0.15842514
118MP0002067_abnormal_sensory_capabilities0.14602320
119MP0002249_abnormal_larynx_morphology0.14452174
120MP0002876_abnormal_thyroid_physiology0.14284479
121MP0004197_abnormal_fetal_growth/weight/0.13748291
122MP0008874_decreased_physiological_sensi0.12287476

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)9.55899295
2Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.21926767
3Exercise-induced myalgia (HP:0003738)9.04343971
4Nemaline bodies (HP:0003798)8.58858342
5Exercise-induced muscle cramps (HP:0003710)8.28451423
6Distal arthrogryposis (HP:0005684)7.26780140
7Type 1 muscle fiber predominance (HP:0003803)7.12260104
8Muscle hypertrophy of the lower extremities (HP:0008968)6.85488309
9Myopathic facies (HP:0002058)6.70560459
10Round ear (HP:0100830)6.34508799
11Ulnar deviation of the wrist (HP:0003049)6.22423512
12Calf muscle hypertrophy (HP:0008981)6.07602803
13Difficulty running (HP:0009046)5.56366142
14Myoglobinuria (HP:0002913)5.50131754
15Muscle fiber splitting (HP:0003555)5.43715074
16Calcaneovalgus deformity (HP:0001848)5.40208296
17Deformed tarsal bones (HP:0008119)5.06951134
18Absent phalangeal crease (HP:0006109)4.98880878
19Hyporeflexia of lower limbs (HP:0002600)4.88665967
20Muscle stiffness (HP:0003552)4.82427343
21Rhabdomyolysis (HP:0003201)4.60596457
22Increased connective tissue (HP:0009025)4.60439686
23EMG: myopathic abnormalities (HP:0003458)4.54088681
24Myotonia (HP:0002486)4.23601563
25Abnormal finger flexion creases (HP:0006143)4.16877635
26Abnormality of the calf musculature (HP:0001430)4.07778391
27Abnormality of skeletal muscle fiber size (HP:0012084)3.87305676
28Subaortic stenosis (HP:0001682)3.73104324
29Abnormality of the left ventricular outflow tract (HP:0011103)3.73104324
30Increased variability in muscle fiber diameter (HP:0003557)3.48592038
31Malignant hyperthermia (HP:0002047)3.47461636
32Rimmed vacuoles (HP:0003805)3.46042217
33Neck muscle weakness (HP:0000467)3.45627504
34Difficulty climbing stairs (HP:0003551)3.41230036
35Abnormality of the calcaneus (HP:0008364)3.25261829
36Frequent falls (HP:0002359)3.20583738
37Pelvic girdle muscle weakness (HP:0003749)3.19326002
38Shoulder girdle muscle weakness (HP:0003547)3.18938895
39Areflexia of lower limbs (HP:0002522)3.16006175
40Hyperkalemia (HP:0002153)3.12974994
41Abnormality of the musculature of the pelvis (HP:0001469)3.08656604
42Abnormality of the hip-girdle musculature (HP:0001445)3.08656604
43Asymmetric septal hypertrophy (HP:0001670)2.93137156
44Sudden death (HP:0001699)2.80910241
45Bundle branch block (HP:0011710)2.74136796
46Slender build (HP:0001533)2.66032577
47Paralysis (HP:0003470)2.62068028
48Fatigable weakness (HP:0003473)2.53591256
49Abnormality of the neuromuscular junction (HP:0003398)2.53591256
50EMG: neuropathic changes (HP:0003445)2.47480249
51Distal lower limb muscle weakness (HP:0009053)2.45747363
52Muscular dystrophy (HP:0003560)2.40094920
53Mildly elevated creatine phosphokinase (HP:0008180)2.27788682
54Limb-girdle muscle weakness (HP:0003325)2.25800415
55Hypoplastic ischia (HP:0003175)2.22115520
56Generalized muscle weakness (HP:0003324)2.18716476
57Spinal rigidity (HP:0003306)2.14928889
58Nonprogressive disorder (HP:0003680)2.13528632
59Bulbar palsy (HP:0001283)2.13406075
60Proximal amyotrophy (HP:0007126)2.13288898
61Metatarsus adductus (HP:0001840)2.06661824
62Ulnar deviation of finger (HP:0009465)2.06476670
63Abnormality of the shoulder girdle musculature (HP:0001435)2.04749595
64Scapular winging (HP:0003691)2.02924605
65Facial diplegia (HP:0001349)2.01341026
66Limb-girdle muscle atrophy (HP:0003797)2.00880309
67Centrally nucleated skeletal muscle fibers (HP:0003687)2.00067881
68Popliteal pterygium (HP:0009756)1.98094522
69Ventricular tachycardia (HP:0004756)1.96360377
70Abnormality of the ischium (HP:0003174)1.94059651
71Gowers sign (HP:0003391)1.93520540
72Abnormality of the foot musculature (HP:0001436)1.90409099
73Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.90253411
74Distal lower limb amyotrophy (HP:0008944)1.90083248
75Achilles tendon contracture (HP:0001771)1.84479826
76Weak cry (HP:0001612)1.81270535
77Waddling gait (HP:0002515)1.77698430
78Heart block (HP:0012722)1.77658632
79Foot dorsiflexor weakness (HP:0009027)1.76884976
80Progressive muscle weakness (HP:0003323)1.76151334
81Long clavicles (HP:0000890)1.75812660
82Type 2 muscle fiber atrophy (HP:0003554)1.75534656
83Tarsal synostosis (HP:0008368)1.75254525
84Increased purine levels (HP:0004368)1.70986724
85Hyperuricemia (HP:0002149)1.70986724
86Ragged-red muscle fibers (HP:0003200)1.69753290
87Abnormality of the Achilles tendon (HP:0005109)1.67445529
88Abnormal atrioventricular conduction (HP:0005150)1.66479727
89Stridor (HP:0010307)1.65267311
90Gout (HP:0001997)1.63834554
91Muscle fiber atrophy (HP:0100295)1.63430543
92Cholelithiasis (HP:0001081)1.61379769
93Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.60877076
94Fetal akinesia sequence (HP:0001989)1.60426955
95Abnormality of potassium homeostasis (HP:0011042)1.60234945
96Lipoatrophy (HP:0100578)1.59813394
97Synostosis involving bones of the feet (HP:0009140)1.57238962
98Synostosis involving bones of the lower limbs (HP:0009138)1.57238962
99Short palpebral fissure (HP:0012745)1.57008354
100Increased density of long bones (HP:0006392)1.56026017
101Increased intramyocellular lipid droplets (HP:0012240)1.55672506
102Oligomenorrhea (HP:0000876)1.54897050
103Dilated cardiomyopathy (HP:0001644)1.52934411
104Ventricular arrhythmia (HP:0004308)1.46388079
105Adducted thumb (HP:0001181)1.45813691
106Amniotic constriction ring (HP:0009775)1.45732339
107Abnormality of placental membranes (HP:0011409)1.45732339
108Exercise intolerance (HP:0003546)1.44209527
109Respiratory insufficiency due to muscle weakness (HP:0002747)1.44063614
110Hip contracture (HP:0003273)1.43960009
111Increased muscle lipid content (HP:0009058)1.43562703
112Congenital hip dislocation (HP:0001374)1.43459594
113Abnormal gallbladder morphology (HP:0012437)1.41663759
114Toxemia of pregnancy (HP:0100603)1.39865723
115Lower limb amyotrophy (HP:0007210)1.38807025
116Limited hip movement (HP:0008800)1.37828647
117Easy fatigability (HP:0003388)1.32289251
118Steppage gait (HP:0003376)1.28199405

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.90727629
2TTN6.42368140
3PHKG26.06803284
4PHKG16.06803284
5NME14.43284876
6PIK3CG3.48382103
7MAP2K32.90107625
8NEK12.42961596
9MAP3K72.12350025
10PDK42.05143418
11PDK32.05143418
12PINK12.04672277
13TRIB31.96063440
14PIK3CA1.75900369
15DMPK1.73487581
16BCKDK1.66071108
17MAPK121.62515034
18MAP2K41.58814753
19MAP2K61.41516165
20PDK21.35205233
21MUSK1.08258738
22PRKAA20.96156178
23MAP3K30.94603421
24MARK10.91912254
25MAPKAPK30.90542760
26PRKAA10.89976270
27NEK90.88670077
28CCNB10.87699535
29MAP3K130.72625189
30STK240.71367200
31TAOK20.71203202
32TRPM70.69108075
33ERBB30.68082996
34PKN20.63643586
35ZAK0.62585773
36SIK10.60958583
37MAPK110.60672044
38EPHB10.57338096
39TAOK10.56691438
40CAMK40.56352733
41CAMK2G0.55839472
42RIPK10.55293345
43MAP3K110.55006695
44AKT20.52710128
45ILK0.43426288
46PTK60.41249868
47CAMK10.38031600
48CAMK2A0.36932612
49EEF2K0.36720041
50CAMK2B0.36108439
51TBK10.32722145
52SGK10.32350026
53PKN10.32318256
54MAP3K60.31832260
55PRKACB0.30889784
56MAP3K50.29371747
57SGK20.28751959
58MAP3K10.27592833
59RPS6KB10.27436467
60LIMK10.27283207
61CAMK1G0.26013011
62KSR20.25773924
63PRKG10.25400436
64MAP3K100.25391824
65PRPF4B0.25192479
66RPS6KA30.25145643
67ARAF0.24513417
68MAPK130.23974584
69CDK190.23761041
70PRKD10.23433956
71TIE10.22938204
72MAPK70.20481801
73ERN10.20407028
74PRKACA0.20181011
75ROCK10.19385835
76MAPK40.19344653
77MARK20.18333234
78PDPK10.16256513
79TYK20.15894425
80PNCK0.15306330
81MAP2K10.15172051
82LATS10.14571789
83TGFBR20.14180987
84LATS20.13625467
85DAPK20.13467142
86PDK10.12216476
87MARK30.11884192
88RPS6KC10.11698388
89RPS6KL10.11698388
90PAK60.11095425
91INSRR0.10976991
92RPS6KA10.10791655
93FER0.10554084
94SGK2230.10440025
95SGK4940.10440025
96RAF10.09729762
97LRRK20.09650906
98BRAF0.09267983
99CAMK2D0.08492819
100RPS6KA60.07812463
101DYRK1B0.07691923
102ZAP700.07617900
103PRKACG0.07249061
104MTOR0.06999517
105NLK0.06346614
106DDR20.06210229
107ICK0.06040025
108BMX0.05557836
109MAP3K90.05465256
110SGK30.05450793
111GSK3A0.04085095
112FGFR10.04074555
113MST1R0.04072910
114JAK20.03825249
115STK110.03386284
116MAPK100.03356735
117KSR10.02972265
118MOS0.02853780
119GSK3B0.02596269
120MAPK80.02569234
121CSNK1D0.02320334
122MAPK30.02245234
123ROCK20.01891371
124RPS6KB20.00334356
125RPS6KA20.00172816
126PRKDC-0.0294077
127FGFR3-0.0283295
128PDGFRA-0.0208032
129MAPK9-0.0112498
130PTK2B-0.0004687

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.33925395
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.17466216
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.67782207
4Cardiac muscle contraction_Homo sapiens_hsa042603.49290247
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.40788754
6Dilated cardiomyopathy_Homo sapiens_hsa054143.34125715
7Starch and sucrose metabolism_Homo sapiens_hsa005003.09223380
8Glucagon signaling pathway_Homo sapiens_hsa049222.43874185
9Propanoate metabolism_Homo sapiens_hsa006402.43616400
10Circadian rhythm_Homo sapiens_hsa047102.36386874
11Insulin signaling pathway_Homo sapiens_hsa049102.34832211
12Carbon metabolism_Homo sapiens_hsa012002.26681040
13Insulin resistance_Homo sapiens_hsa049312.21694591
14Oxytocin signaling pathway_Homo sapiens_hsa049212.18826421
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.14171598
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.07253948
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.86709530
18Galactose metabolism_Homo sapiens_hsa000521.83187055
19AMPK signaling pathway_Homo sapiens_hsa041521.76999554
20Calcium signaling pathway_Homo sapiens_hsa040201.71222918
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.67437731
22Fructose and mannose metabolism_Homo sapiens_hsa000511.65153114
23Parkinsons disease_Homo sapiens_hsa050121.63633935
24Alzheimers disease_Homo sapiens_hsa050101.58207848
25Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.57434798
26Biosynthesis of amino acids_Homo sapiens_hsa012301.56774019
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.53879038
28Fatty acid degradation_Homo sapiens_hsa000711.49512803
29Pyruvate metabolism_Homo sapiens_hsa006201.48923667
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.40901679
31Viral myocarditis_Homo sapiens_hsa054161.37784675
32Oxidative phosphorylation_Homo sapiens_hsa001901.37411220
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.33075491
34Tight junction_Homo sapiens_hsa045301.32100509
35Arginine and proline metabolism_Homo sapiens_hsa003301.32008793
36Pentose phosphate pathway_Homo sapiens_hsa000301.28417790
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.23971986
38Fatty acid metabolism_Homo sapiens_hsa012121.10889352
39Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08106665
40Vascular smooth muscle contraction_Homo sapiens_hsa042701.07052160
41Focal adhesion_Homo sapiens_hsa045101.04525178
42Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.01907161
43Gastric acid secretion_Homo sapiens_hsa049710.98364276
44Central carbon metabolism in cancer_Homo sapiens_hsa052300.93868296
45GnRH signaling pathway_Homo sapiens_hsa049120.91206601
46FoxO signaling pathway_Homo sapiens_hsa040680.89550009
47Longevity regulating pathway - mammal_Homo sapiens_hsa042110.88004548
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.82764481
49Arginine biosynthesis_Homo sapiens_hsa002200.82302984
50Fatty acid biosynthesis_Homo sapiens_hsa000610.79530906
51HIF-1 signaling pathway_Homo sapiens_hsa040660.76307074
52mTOR signaling pathway_Homo sapiens_hsa041500.72619812
53PPAR signaling pathway_Homo sapiens_hsa033200.72485510
54VEGF signaling pathway_Homo sapiens_hsa043700.70690170
55Renin secretion_Homo sapiens_hsa049240.65722168
56Huntingtons disease_Homo sapiens_hsa050160.64727856
57MAPK signaling pathway_Homo sapiens_hsa040100.59981277
58Platelet activation_Homo sapiens_hsa046110.55623626
59Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.55271274
60beta-Alanine metabolism_Homo sapiens_hsa004100.52075111
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49674413
62Leukocyte transendothelial migration_Homo sapiens_hsa046700.48245170
63Type II diabetes mellitus_Homo sapiens_hsa049300.47940028
64Adherens junction_Homo sapiens_hsa045200.46900120
65Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45194182
66Amoebiasis_Homo sapiens_hsa051460.45096262
67Insulin secretion_Homo sapiens_hsa049110.41564372
68Butanoate metabolism_Homo sapiens_hsa006500.39928304
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37638514
70Proteoglycans in cancer_Homo sapiens_hsa052050.37011286
71Salivary secretion_Homo sapiens_hsa049700.35961415
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.32593036
73Lysine degradation_Homo sapiens_hsa003100.29398251
74Aldosterone synthesis and secretion_Homo sapiens_hsa049250.28037977
75Renal cell carcinoma_Homo sapiens_hsa052110.27297260
76Glioma_Homo sapiens_hsa052140.25725683
77Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.24981007
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.24630995
79Histidine metabolism_Homo sapiens_hsa003400.24116546
80Long-term depression_Homo sapiens_hsa047300.23654169
81Fatty acid elongation_Homo sapiens_hsa000620.21727949
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.21430566
83Amphetamine addiction_Homo sapiens_hsa050310.21149661
84Phenylalanine metabolism_Homo sapiens_hsa003600.18420197
85cAMP signaling pathway_Homo sapiens_hsa040240.18313334
86Tyrosine metabolism_Homo sapiens_hsa003500.17667482
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.16427627
88Thyroid cancer_Homo sapiens_hsa052160.15598579
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15483413
90Pancreatic secretion_Homo sapiens_hsa049720.15381474
91Nitrogen metabolism_Homo sapiens_hsa009100.15291293
92Cholinergic synapse_Homo sapiens_hsa047250.14375393
93Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.14055704
94Peroxisome_Homo sapiens_hsa041460.14040279
95ECM-receptor interaction_Homo sapiens_hsa045120.13270512
96Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.11911212
97Oocyte meiosis_Homo sapiens_hsa041140.10325047
98Prolactin signaling pathway_Homo sapiens_hsa049170.09535952
99Metabolic pathways_Homo sapiens_hsa011000.08960834
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.08323634
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.07914938
102Regulation of autophagy_Homo sapiens_hsa041400.07442901
103Circadian entrainment_Homo sapiens_hsa047130.07193607
104Linoleic acid metabolism_Homo sapiens_hsa005910.06936588
105Sulfur relay system_Homo sapiens_hsa041220.06715816
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.06459843
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.06277314
108Acute myeloid leukemia_Homo sapiens_hsa052210.05731179
109Melanogenesis_Homo sapiens_hsa049160.05559519
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.05067267
111Cysteine and methionine metabolism_Homo sapiens_hsa002700.04487856
112Purine metabolism_Homo sapiens_hsa002300.04343038
113Neurotrophin signaling pathway_Homo sapiens_hsa047220.04257544
114ABC transporters_Homo sapiens_hsa020100.04124487
115Tryptophan metabolism_Homo sapiens_hsa003800.03464388
116Long-term potentiation_Homo sapiens_hsa047200.03130639

Most similar genes based on co-expression Upload to Enrichr

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