TRIM54

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 contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.23173288
2muscle filament sliding (GO:0030049)8.96952292
3actin-myosin filament sliding (GO:0033275)8.96952292
4regulation of skeletal muscle contraction (GO:0014819)7.93887636
5myofibril assembly (GO:0030239)7.68890155
6cardiac myofibril assembly (GO:0055003)7.66273436
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.36679763
8actin-mediated cell contraction (GO:0070252)7.35442858
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.25994734
10plasma membrane repair (GO:0001778)6.99171562
11sarcoplasmic reticulum calcium ion transport (GO:0070296)6.94595865
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.53466100
13negative regulation of potassium ion transmembrane transport (GO:1901380)6.47617855
14cardiac muscle contraction (GO:0060048)6.38903555
15tricarboxylic acid cycle (GO:0006099)6.24741485
16skeletal muscle contraction (GO:0003009)6.03766396
17striated muscle contraction (GO:0006941)6.03138187
18cardiac muscle cell development (GO:0055013)5.85535660
19regulation of relaxation of muscle (GO:1901077)5.85191565
20actomyosin structure organization (GO:0031032)5.84154368
21regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.74264489
22regulation of actin filament-based movement (GO:1903115)5.70712110
23carnitine shuttle (GO:0006853)5.66400412
24regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.63334395
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.55655198
26skeletal muscle fiber development (GO:0048741)5.54296512
27regulation of cell communication by electrical coupling (GO:0010649)5.49744315
28cardiac cell development (GO:0055006)5.48538595
29actin filament-based movement (GO:0030048)5.48453468
30response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.43767500
31regulation of acyl-CoA biosynthetic process (GO:0050812)5.22257878
32regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.16420351
33creatine metabolic process (GO:0006600)5.06651367
34myotube cell development (GO:0014904)5.04222953
35cardiac muscle tissue morphogenesis (GO:0055008)5.03478115
36skeletal muscle adaptation (GO:0043501)4.95258949
37regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.94227470
38cardiac muscle hypertrophy (GO:0003300)4.92295803
39adult heart development (GO:0007512)4.89960305
40fatty acid transmembrane transport (GO:1902001)4.84683018
41heart contraction (GO:0060047)4.83574705
42heart process (GO:0003015)4.83574705
43ventricular cardiac muscle cell action potential (GO:0086005)4.82101640
44striated muscle hypertrophy (GO:0014897)4.77776216
45regulation of coenzyme metabolic process (GO:0051196)4.76052778
46regulation of cofactor metabolic process (GO:0051193)4.76052778
47regulation of striated muscle contraction (GO:0006942)4.73453923
48muscle tissue morphogenesis (GO:0060415)4.65846133
49regulation of sarcomere organization (GO:0060297)4.61789410
50bundle of His cell to Purkinje myocyte communication (GO:0086069)4.60824211
51heart trabecula formation (GO:0060347)4.48345719
52ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.48173743
53glucan biosynthetic process (GO:0009250)4.40333577
54glycogen biosynthetic process (GO:0005978)4.40333577
55response to inactivity (GO:0014854)4.39779574
56muscle contraction (GO:0006936)4.34109808
57skeletal muscle tissue development (GO:0007519)4.32987293
58mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.32648455
59mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.30620886
60regulation of membrane repolarization (GO:0060306)4.24881446
61muscle hypertrophy (GO:0014896)4.20775206
62carnitine transmembrane transport (GO:1902603)4.19232113
63cellular polysaccharide catabolic process (GO:0044247)4.18095935
64striated muscle adaptation (GO:0014888)4.10224548
65respiratory electron transport chain (GO:0022904)4.06627262
66oxidative phosphorylation (GO:0006119)4.03856641
67NADH metabolic process (GO:0006734)4.01716151
68muscle cell cellular homeostasis (GO:0046716)4.00563369
69muscle system process (GO:0003012)3.99096216
70ATP synthesis coupled proton transport (GO:0015986)3.98821878
71energy coupled proton transport, down electrochemical gradient (GO:0015985)3.98821878
72positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.96782566
73electron transport chain (GO:0022900)3.94266948
74regulation of sequestering of triglyceride (GO:0010889)3.94089654
75skeletal muscle tissue regeneration (GO:0043403)3.92944150
762-oxoglutarate metabolic process (GO:0006103)3.92441106
77striated muscle cell development (GO:0055002)3.91435761
78response to muscle activity (GO:0014850)3.89670178
79striated muscle atrophy (GO:0014891)3.88554861
80glycogen catabolic process (GO:0005980)3.86240883
81regulation of the force of heart contraction (GO:0002026)3.85701557
82regulation of sulfur metabolic process (GO:0042762)3.84770038
83carnitine transport (GO:0015879)3.81616741
84amino-acid betaine transport (GO:0015838)3.81616741
85polysaccharide catabolic process (GO:0000272)3.81528492
86muscle cell fate commitment (GO:0042693)3.75504553
87negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.74516918
88negative regulation of calcium ion transmembrane transport (GO:1903170)3.74516918
89cardiac muscle adaptation (GO:0014887)3.72031817
90cardiac muscle hypertrophy in response to stress (GO:0014898)3.72031817
91muscle hypertrophy in response to stress (GO:0003299)3.72031817
92pyrimidine ribonucleoside catabolic process (GO:0046133)3.68748858
93regulation of ATP catabolic process (GO:1903289)3.67951680
94regulation of ATPase activity (GO:0043462)3.67951680
95cell communication involved in cardiac conduction (GO:0086065)3.65535720
96glucan catabolic process (GO:0009251)3.59907011
97positive regulation of myotube differentiation (GO:0010831)3.59503085
98muscle organ development (GO:0007517)3.58159148
99muscle structure development (GO:0061061)3.57963472
100regulation of calcium ion transmembrane transporter activity (GO:1901019)3.57620862
101regulation of calcium ion transmembrane transport (GO:1903169)3.57620862
102regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.57328555
103negative regulation of potassium ion transport (GO:0043267)3.56392370
104muscle fiber development (GO:0048747)3.55441329
105glycogen metabolic process (GO:0005977)3.53771275
106cytidine metabolic process (GO:0046087)3.52508174
107cytidine catabolic process (GO:0006216)3.52508174
108cytidine deamination (GO:0009972)3.52508174
109membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.52126238
110cardiac muscle cell action potential involved in contraction (GO:0086002)3.50511758
111positive regulation of cation channel activity (GO:2001259)3.50368900
112negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.48806135
113negative regulation of protein localization to cell surface (GO:2000009)3.47798399
114cardiac muscle cell action potential (GO:0086001)3.47720894
115gluconeogenesis (GO:0006094)3.47049998
116glucan metabolic process (GO:0044042)3.46438804
117cellular glucan metabolic process (GO:0006073)3.46438804
118regulation of cardiac muscle contraction (GO:0055117)3.44088435
119regulation of heart rate (GO:0002027)3.43525233
120cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.43400102
121regulation of cardiac muscle cell contraction (GO:0086004)3.42983422
122regulation of muscle system process (GO:0090257)3.41735754
123muscle adaptation (GO:0043500)3.41438133
124muscle cell development (GO:0055001)3.41369165
125regulation of muscle contraction (GO:0006937)3.40871795
126response to activity (GO:0014823)3.37658097
127muscle atrophy (GO:0014889)3.35390636
128regulation of myoblast differentiation (GO:0045661)3.34931247
129fructose metabolic process (GO:0006000)3.34874786
130relaxation of muscle (GO:0090075)3.26875079

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.90139531
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.71859013
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.36819426
4EP300_21415370_ChIP-Seq_HL-1_Mouse4.04250064
5TBX20_22080862_ChIP-Seq_HEART_Mouse4.01015612
6TBX20_22328084_ChIP-Seq_HEART_Mouse4.01015612
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.87419738
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.84102083
9ZNF263_19887448_ChIP-Seq_K562_Human3.46559131
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.42718080
11ESR1_20079471_ChIP-ChIP_T-47D_Human3.29728220
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.99125100
13MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.94486422
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.72610285
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.33001811
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.27968852
17PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.15842792
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.01073586
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.90656144
20BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.87353044
21NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.82070950
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.80114554
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.74445838
24CDX2_19796622_ChIP-Seq_MESCs_Mouse1.73670306
25PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.72471851
26EZH2_22144423_ChIP-Seq_EOC_Human1.70955501
27CLOCK_20551151_ChIP-Seq_293T_Human1.66352326
28NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.64450367
29TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63312296
30ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.63216378
31TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63198611
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.61474982
33EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.60274452
34STAT3_1855785_ChIP-Seq_MESCs_Mouse1.49558665
35EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.45295010
36* CTCF_27219007_Chip-Seq_Bcells_Human1.45280042
37NFIB_24661679_ChIP-Seq_LUNG_Mouse1.43848142
38PPARA_22158963_ChIP-Seq_LIVER_Mouse1.43406147
39KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35562368
40KDM2B_26808549_Chip-Seq_DND41_Human1.31271692
41LXR_22292898_ChIP-Seq_THP-1_Human1.27580201
42RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.25529565
43PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.24917184
44SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24384537
45TP63_22573176_ChIP-Seq_HFKS_Human1.22275585
46FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.21488462
47ATF3_27146783_Chip-Seq_COLON_Human1.20958012
48RACK7_27058665_Chip-Seq_MCF-7_Human1.20811920
49E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.20506137
50EZH2_27294783_Chip-Seq_ESCs_Mouse1.19663356
51BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.18913024
52* P68_20966046_ChIP-Seq_HELA_Human1.17255157
53SPI1_20517297_ChIP-Seq_HL60_Human1.15173924
54SMC3_22415368_ChIP-Seq_MEFs_Mouse1.14963308
55RARB_27405468_Chip-Seq_BRAIN_Mouse1.14514037
56* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.12696330
57LXR_22158963_ChIP-Seq_LIVER_Mouse1.11848139
58STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.11583233
59ELK3_25401928_ChIP-Seq_HUVEC_Human1.11253370
60SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07665717
61ZNF274_21170338_ChIP-Seq_K562_Hela1.06804095
62TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06454698
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.04907940
64AR_21572438_ChIP-Seq_LNCaP_Human1.04599629
65FOXH1_21741376_ChIP-Seq_ESCs_Human1.04464478
66PPAR_26484153_Chip-Seq_NCI-H1993_Human1.04118441
67RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02062574
68* CTCF_21964334_Chip-Seq_Bcells_Human1.01167801
69* YY1_22570637_ChIP-Seq_MALME-3M_Human1.00914687
70* OCT4_20526341_ChIP-Seq_ESCs_Human1.00559772
71ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.00204939
72UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.99749189
73VDR_22108803_ChIP-Seq_LS180_Human0.99714811
74RXR_22158963_ChIP-Seq_LIVER_Mouse0.99628394
75SA1_27219007_Chip-Seq_Bcells_Human0.99133837
76KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.98825352
77TRIM28_21343339_ChIP-Seq_HEK293_Human0.98823841
78RUNX1_27514584_Chip-Seq_MCF-7_Human0.96992845
79GATA1_19941826_ChIP-Seq_K562_Human0.95944530
80* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.95129487
81* BCL6_27268052_Chip-Seq_Bcells_Human0.94989160
82DROSHA_22980978_ChIP-Seq_HELA_Human0.94501160
83ESR1_21235772_ChIP-Seq_MCF-7_Human0.94304695
84HIF1A_21447827_ChIP-Seq_MCF-7_Human0.93570032
85SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92803081
86NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.91821966
87IGF1R_20145208_ChIP-Seq_DFB_Human0.90741616
88SMC1_22415368_ChIP-Seq_MEFs_Mouse0.90453890
89* BCOR_27268052_Chip-Seq_Bcells_Human0.90385951
90GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.89794418
91CREB1_26743006_Chip-Seq_LNCaP_Human0.89787120
92EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87749330
93CRX_20693478_ChIP-Seq_RETINA_Mouse0.87735267
94PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.87626175
95CBX2_27304074_Chip-Seq_ESCs_Mouse0.87619150
96SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.86838245
97* E2F1_20622854_ChIP-Seq_HELA_Human0.86796312
98P63_26484246_Chip-Seq_KERATINOCYTES_Human0.86511277
99DNAJC2_21179169_ChIP-ChIP_NT2_Human0.86362419
100PCGF2_27294783_Chip-Seq_ESCs_Mouse0.85217437
101EZH2_27294783_Chip-Seq_NPCs_Mouse0.83250224
102SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.82901273
103MTF2_20144788_ChIP-Seq_MESCs_Mouse0.82876300
104TDRD3_21172665_ChIP-Seq_MCF-7_Human0.81505936
105AUTS2_25519132_ChIP-Seq_293T-REX_Human0.80718288
106SOX2_21211035_ChIP-Seq_LN229_Gbm0.80038519
107MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.79743509
108LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.79522249
109TP53_23651856_ChIP-Seq_MEFs_Mouse0.79184170
110SMC4_20622854_ChIP-Seq_HELA_Human0.79173081
111ELF1_20517297_ChIP-Seq_JURKAT_Human0.79059080
112RAD21_21589869_ChIP-Seq_MESCs_Mouse0.78174740
113SMAD3_21741376_ChIP-Seq_HESCs_Human0.78111335
114GATA1_19941827_ChIP-Seq_MEL86_Mouse0.77691449
115OCT4_21477851_ChIP-Seq_ESCs_Mouse0.77499517
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.76621853
117CSB_26484114_Chip-Seq_FIBROBLAST_Human0.75820234
118GATA1_19941827_ChIP-Seq_MEL_Mouse0.75753190
119GATA1_22025678_ChIP-Seq_K562_Human0.75498655
120GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75259893
121SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74984243
122HTT_18923047_ChIP-ChIP_STHdh_Human0.73973682
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.73111515
124GATA2_19941826_ChIP-Seq_K562_Human0.72230246
125TCF7_22412390_ChIP-Seq_EML_Mouse0.72048026
126LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.71644554
127ISL1_27105846_Chip-Seq_CPCs_Mouse0.71207989
128EZH2_27304074_Chip-Seq_ESCs_Mouse0.71041927
129GF1_26923725_Chip-Seq_HPCs_Mouse0.70967234
130STAT6_21828071_ChIP-Seq_BEAS2B_Human0.70828420
131PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.70414639
132MYC_27129775_Chip-Seq_CORNEA_Mouse0.70364655
133RAC3_21632823_ChIP-Seq_H3396_Human0.70171642
134PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.69926745
135CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.69877781
136DPY_21335234_ChIP-Seq_ESCs_Mouse0.68688883
137ERG_21242973_ChIP-ChIP_JURKAT_Human0.68588082
138JARID2_20075857_ChIP-Seq_MESCs_Mouse0.68491712
139NR3C1_23031785_ChIP-Seq_PC12_Mouse0.68384467
140EZH2_18974828_ChIP-Seq_MESCs_Mouse0.67679428
141RNF2_18974828_ChIP-Seq_MESCs_Mouse0.67679428

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue6.52664985
2MP0002837_dystrophic_cardiac_calcinosis6.50841613
3MP0000751_myopathy5.66290028
4MP0000749_muscle_degeneration4.86351765
5MP0004084_abnormal_cardiac_muscle4.79874197
6MP0004036_abnormal_muscle_relaxation4.33787925
7MP0004215_abnormal_myocardial_fiber3.99726073
8MP0004145_abnormal_muscle_electrophysio3.87158007
9* MP0005330_cardiomyopathy3.32330320
10* MP0004087_abnormal_muscle_fiber3.30438814
11MP0002106_abnormal_muscle_physiology3.16957232
12MP0000750_abnormal_muscle_regeneration3.16200025
13MP0005620_abnormal_muscle_contractility2.89277152
14MP0002269_muscular_atrophy2.86713493
15MP0004130_abnormal_muscle_cell2.83691640
16MP0000747_muscle_weakness2.83170927
17MP0000759_abnormal_skeletal_muscle2.66320877
18* MP0002972_abnormal_cardiac_muscle2.62756723
19MP0005369_muscle_phenotype2.59809287
20MP0003137_abnormal_impulse_conducting2.41827454
21MP0008775_abnormal_heart_ventricle2.36785426
22MP0004484_altered_response_of2.30089579
23MP0001544_abnormal_cardiovascular_syste2.27350807
24MP0005385_cardiovascular_system_phenoty2.27350807
25* MP0010630_abnormal_cardiac_muscle2.26214029
26MP0004233_abnormal_muscle_weight2.12224612
27MP0006138_congestive_heart_failure1.97937639
28MP0006036_abnormal_mitochondrial_physio1.96936640
29MP0002332_abnormal_exercise_endurance1.80895061
30MP0003828_pulmonary_edema1.73208760
31MP0004085_abnormal_heartbeat1.65455415
32MP0005666_abnormal_adipose_tissue1.57332135
33* MP0003221_abnormal_cardiomyocyte_apopto1.42216030
34MP0002127_abnormal_cardiovascular_syste1.40688648
35MP0004510_myositis1.40458050
36MP0003950_abnormal_plasma_membrane1.39278039
37MP0004185_abnormal_adipocyte_glucose1.33105826
38MP0002108_abnormal_muscle_morphology1.26385475
39MP0005670_abnormal_white_adipose1.24702260
40MP0004270_analgesia1.21188019
41MP0000733_abnormal_muscle_development1.18846098
42MP0002234_abnormal_pharynx_morphology1.14206418
43MP0006035_abnormal_mitochondrial_morpho1.12273287
44MP0000343_altered_response_to1.12006185
45MP0005375_adipose_tissue_phenotype1.08445902
46MP0005266_abnormal_metabolism1.02777920
47* MP0000266_abnormal_heart_morphology1.00788084
48MP0001661_extended_life_span0.98425561
49MP0003567_abnormal_fetal_cardiomyocyte0.98036464
50MP0003806_abnormal_nucleotide_metabolis0.91120480
51MP0005165_increased_susceptibility_to0.86869326
52MP0002971_abnormal_brown_adipose0.82718804
53MP0003279_aneurysm0.74147594
54MP0003705_abnormal_hypodermis_morpholog0.73949977
55MP0004043_abnormal_pH_regulation0.70067910
56MP0000230_abnormal_systemic_arterial0.67683889
57MP0000013_abnormal_adipose_tissue0.67235637
58MP0010368_abnormal_lymphatic_system0.66044459
59MP0009780_abnormal_chondrocyte_physiolo0.65429571
60MP0000003_abnormal_adipose_tissue0.61060953
61MP0004147_increased_porphyrin_level0.61016325
62* MP0002128_abnormal_blood_circulation0.60297395
63MP0002909_abnormal_adrenal_gland0.53992530
64MP0002078_abnormal_glucose_homeostasis0.52008688
65MP0003566_abnormal_cell_adhesion0.51510211
66MP0005319_abnormal_enzyme/_coenzyme0.48961706
67MP0005623_abnormal_meninges_morphology0.48803168
68MP0008961_abnormal_basal_metabolism0.48103756
69MP0000372_irregular_coat_pigmentation0.47384353
70MP0003879_abnormal_hair_cell0.46339767
71MP0005167_abnormal_blood-brain_barrier0.44779201
72MP0005451_abnormal_body_composition0.44567635
73MP0005275_abnormal_skin_tensile0.44239080
74MP0000767_abnormal_smooth_muscle0.43878431
75MP0002638_abnormal_pupillary_reflex0.43240252
76MP0001879_abnormal_lymphatic_vessel0.42237818
77MP0005187_abnormal_penis_morphology0.40754250
78MP0005334_abnormal_fat_pad0.38094304
79MP0002925_abnormal_cardiovascular_devel0.35445198
80MP0005083_abnormal_biliary_tract0.34531134
81MP0004134_abnormal_chest_morphology0.33259060
82MP0005423_abnormal_somatic_nervous0.32638290
83MP0008438_abnormal_cutaneous_collagen0.31996688
84MP0003656_abnormal_erythrocyte_physiolo0.31817782
85MP0009672_abnormal_birth_weight0.31575443
86MP0005535_abnormal_body_temperature0.31047444
87MP0003948_abnormal_gas_homeostasis0.30956189
88MP0005332_abnormal_amino_acid0.29557271
89MP0004142_abnormal_muscle_tone0.29348129
90MP0002822_catalepsy0.28069559
91MP0003984_embryonic_growth_retardation0.27845350
92MP0009115_abnormal_fat_cell0.27574338
93MP0009840_abnormal_foam_cell0.27524261
94MP0001614_abnormal_blood_vessel0.27300606
95MP0005166_decreased_susceptibility_to0.27203626
96MP0005584_abnormal_enzyme/coenzyme_acti0.26592494
97MP0002088_abnormal_embryonic_growth/wei0.26466019
98MP0001853_heart_inflammation0.25784465
99MP0010030_abnormal_orbit_morphology0.25284004
100MP0001784_abnormal_fluid_regulation0.25134331
101MP0005452_abnormal_adipose_tissue0.25130300
102MP0002118_abnormal_lipid_homeostasis0.24102388
103MP0005376_homeostasis/metabolism_phenot0.24033580
104MP0002114_abnormal_axial_skeleton0.23789585
105MP0000762_abnormal_tongue_morphology0.23715222
106MP0002734_abnormal_mechanical_nocicepti0.22781543
107MP0002896_abnormal_bone_mineralization0.22505610
108MP0003195_calcinosis0.22306404
109MP0001727_abnormal_embryo_implantation0.21468867
110MP0003045_fibrosis0.21319844
111MP0001299_abnormal_eye_distance/0.21261290
112MP0008569_lethality_at_weaning0.20902856
113MP0005386_behavior/neurological_phenoty0.19107157
114MP0004924_abnormal_behavior0.19107157
115MP0009250_abnormal_appendicular_skeleto0.18486522
116MP0002970_abnormal_white_adipose0.18424931
117MP0008874_decreased_physiological_sensi0.18090502
118* MP0002066_abnormal_motor_capabilities/c0.17903609
119MP0000579_abnormal_nail_morphology0.17756606
120MP0003941_abnormal_skin_development0.17041470
121MP0001943_abnormal_respiration0.17000497
122MP0002877_abnormal_melanocyte_morpholog0.16236879
123MP0000249_abnormal_blood_vessel0.15443762
124MP0000358_abnormal_cell_content/0.14798373

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.41116642
2Exercise-induced muscle cramps (HP:0003710)7.08300874
3Calf muscle hypertrophy (HP:0008981)6.95156515
4Muscle hypertrophy of the lower extremities (HP:0008968)6.85960706
5Sudden death (HP:0001699)6.48927773
6Muscle fiber splitting (HP:0003555)6.11940631
7Ventricular tachycardia (HP:0004756)5.67366750
8Myoglobinuria (HP:0002913)5.48750318
9Hyporeflexia of lower limbs (HP:0002600)5.47505179
10Muscle fiber inclusion bodies (HP:0100299)5.47023590
11Abnormality of the calf musculature (HP:0001430)5.35666187
12Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.32190899
13EMG: myopathic abnormalities (HP:0003458)4.74557702
14Difficulty running (HP:0009046)4.72626510
15Abnormality of the left ventricular outflow tract (HP:0011103)4.69196705
16Subaortic stenosis (HP:0001682)4.69196705
17Centrally nucleated skeletal muscle fibers (HP:0003687)4.60362852
18Nemaline bodies (HP:0003798)4.60145756
19Atrial fibrillation (HP:0005110)4.59869329
20Increased connective tissue (HP:0009025)4.56983537
21Type 1 muscle fiber predominance (HP:0003803)4.39665915
22Rhabdomyolysis (HP:0003201)4.37039910
23Lipoatrophy (HP:0100578)4.32497737
24Primary atrial arrhythmia (HP:0001692)4.29823732
25Supraventricular tachycardia (HP:0004755)4.16266372
26Supraventricular arrhythmia (HP:0005115)4.06850267
27Myotonia (HP:0002486)3.98810823
28Right ventricular cardiomyopathy (HP:0011663)3.93996817
29Asymmetric septal hypertrophy (HP:0001670)3.92437813
30Bundle branch block (HP:0011710)3.88490813
31Dilated cardiomyopathy (HP:0001644)3.71714075
32Palpitations (HP:0001962)3.61559748
33Difficulty climbing stairs (HP:0003551)3.54509961
34Muscle stiffness (HP:0003552)3.53549279
35Distal arthrogryposis (HP:0005684)3.46003944
36Syncope (HP:0001279)3.36380393
37Myopathic facies (HP:0002058)3.31671158
38Round ear (HP:0100830)3.20673865
39Prolonged QT interval (HP:0001657)3.18895136
40Heart block (HP:0012722)3.17859809
41Abnormality of skeletal muscle fiber size (HP:0012084)3.16822938
42Areflexia of lower limbs (HP:0002522)3.13206002
43Increased variability in muscle fiber diameter (HP:0003557)3.12320167
44Ventricular arrhythmia (HP:0004308)3.08016660
45Distal lower limb muscle weakness (HP:0009053)3.06654406
46Abnormal atrioventricular conduction (HP:0005150)3.00974954
47Neck muscle weakness (HP:0000467)2.99494735
48Atrioventricular block (HP:0001678)2.91507476
49Ulnar deviation of the wrist (HP:0003049)2.73716523
50Rimmed vacuoles (HP:0003805)2.73076196
51Abnormal finger flexion creases (HP:0006143)2.70815942
52Abnormal mitochondria in muscle tissue (HP:0008316)2.68549888
53Acute necrotizing encephalopathy (HP:0006965)2.66607065
54Limb-girdle muscle atrophy (HP:0003797)2.63179008
55Ventricular fibrillation (HP:0001663)2.59704516
56Hepatic necrosis (HP:0002605)2.58733406
57Weak cry (HP:0001612)2.48752150
58Fetal akinesia sequence (HP:0001989)2.46784998
59Left ventricular hypertrophy (HP:0001712)2.43209465
60Testicular atrophy (HP:0000029)2.41548307
61EMG: neuropathic changes (HP:0003445)2.35249527
62Ketoacidosis (HP:0001993)2.34887292
63Abnormal EKG (HP:0003115)2.33734989
64Ragged-red muscle fibers (HP:0003200)2.32728578
65Distal lower limb amyotrophy (HP:0008944)2.31367430
66Acute encephalopathy (HP:0006846)2.30223782
67Hepatocellular necrosis (HP:0001404)2.29958658
68Muscular dystrophy (HP:0003560)2.27644519
69Gowers sign (HP:0003391)2.26196623
70Mildly elevated creatine phosphokinase (HP:0008180)2.24270787
71Increased muscle lipid content (HP:0009058)2.20802643
72Hypoplastic ischia (HP:0003175)2.20689300
73Slender build (HP:0001533)2.19959546
74Generalized muscle weakness (HP:0003324)2.19096371
75Progressive macrocephaly (HP:0004481)2.18594084
76Exercise intolerance (HP:0003546)2.18499949
77Calcaneovalgus deformity (HP:0001848)2.17811747
78Facial diplegia (HP:0001349)2.16295838
79Palmoplantar keratoderma (HP:0000982)2.15105202
80Hip contracture (HP:0003273)2.15031513
81Mitochondrial inheritance (HP:0001427)2.15028551
82Frequent falls (HP:0002359)2.14957178
83Lower limb amyotrophy (HP:0007210)2.13992950
84Hyperkalemia (HP:0002153)2.13290381
85Cerebral edema (HP:0002181)2.05935125
86Abnormality of the calcaneus (HP:0008364)2.05510891
87Spinal rigidity (HP:0003306)2.05159539
88Proximal amyotrophy (HP:0007126)2.05136788
89Absent phalangeal crease (HP:0006109)2.03883622
90Increased CSF lactate (HP:0002490)2.02909617
91Abnormality of the shoulder girdle musculature (HP:0001435)2.01394614
92Waddling gait (HP:0002515)2.01165971
93Hypoglycemic coma (HP:0001325)2.01152948
94Progressive muscle weakness (HP:0003323)2.00356549
95Deformed tarsal bones (HP:0008119)1.97940038
96Limb-girdle muscle weakness (HP:0003325)1.96926489
97Abnormality of dicarboxylic acid metabolism (HP:0010995)1.96706976
98Dicarboxylic aciduria (HP:0003215)1.96706976
99Scapular winging (HP:0003691)1.96422013
100Abnormality of the foot musculature (HP:0001436)1.94514337
101Abnormality of the neuromuscular junction (HP:0003398)1.94040591
102Fatigable weakness (HP:0003473)1.94040591
103Increased intramyocellular lipid droplets (HP:0012240)1.93518015
104Malignant hyperthermia (HP:0002047)1.93394785
105Foot dorsiflexor weakness (HP:0009027)1.93248882
106Abnormality of fatty-acid metabolism (HP:0004359)1.91334855
107Abnormality of the ischium (HP:0003174)1.90841634
108Abnormality of alanine metabolism (HP:0010916)1.88908048
109Hyperalaninemia (HP:0003348)1.88908048
110Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88908048
111Bulbar palsy (HP:0001283)1.88524701
112Conjunctival hamartoma (HP:0100780)1.88146216
113Respiratory insufficiency due to muscle weakness (HP:0002747)1.87258007
114Lactic acidosis (HP:0003128)1.86585498
115Popliteal pterygium (HP:0009756)1.71074129
116Type 2 muscle fiber atrophy (HP:0003554)1.59927891
117Abnormality of the musculature of the pelvis (HP:0001469)1.58432445
118Abnormality of the hip-girdle musculature (HP:0001445)1.58432445
119Long clavicles (HP:0000890)1.57077492
120Nonprogressive disorder (HP:0003680)1.56271567
121Shoulder girdle muscle weakness (HP:0003547)1.54591814
122Paralysis (HP:0003470)1.51400730
123Steppage gait (HP:0003376)1.51052316
124Pelvic girdle muscle weakness (HP:0003749)1.50178155
125Muscle fiber atrophy (HP:0100295)1.47938302

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN7.05402680
2OBSCN5.64390914
3PHKG14.93391979
4PHKG24.93391979
5PDK43.24755589
6PDK33.24755589
7LMTK22.79827993
8DMPK2.69660489
9BCKDK2.63149265
10MYLK2.54946473
11TRIB32.53950919
12MUSK2.48743423
13PINK12.46221289
14NEK12.45084560
15PKN22.19935871
16PIK3CA2.13298852
17PDK22.02026744
18NME11.86753941
19MAP2K31.61890873
20TIE11.41596111
21MAP3K71.38726336
22PIK3CG1.34757108
23STK241.27547248
24MAPK121.26428169
25MARK11.20635466
26LIMK11.12179798
27GRK71.07260474
28MAPKAPK31.06688331
29PRKD11.03512389
30PAK31.00020884
31CAMK2D0.99532849
32PRKAA10.92961962
33ILK0.88905236
34MOS0.86654721
35PRKAA20.85047479
36MAP3K30.83471137
37ZAK0.78789375
38TRPM70.77447504
39MAP3K50.75368783
40ROCK10.75120955
41CCNB10.73727113
42RIPK10.71051233
43PKN10.68162119
44STK38L0.65849377
45MAP3K130.64163412
46STK40.63641688
47DYRK1B0.58603590
48CDC42BPA0.57968400
49MAP2K40.56827531
50PDGFRA0.56430152
51FLT30.55576538
52NEK90.55287363
53ERBB30.54971972
54MAP2K60.54256459
55CAMK40.53099368
56ICK0.51344389
57AKT20.51237305
58EPHB10.50957336
59INSRR0.49503250
60CAMK2B0.49198176
61CAMK2G0.48797736
62WNK40.47621686
63STK380.47432839
64PRKACB0.47036611
65NME20.46542099
66ROCK20.45692630
67KSR20.45382064
68DAPK30.43947305
69CAMK2A0.42495102
70RPS6KC10.42008680
71RPS6KL10.42008680
72TGFBR20.41312738
73KDR0.38518853
74MAP3K110.38509227
75TAOK10.34808028
76RPS6KA60.34640754
77PRKACA0.34315756
78WNK10.32399426
79MAPK110.30896182
80PDPK10.30523862
81PRKACG0.28858606
82LATS20.28341544
83SGK20.27956489
84SIK10.26927462
85CAMK10.25668894
86RPS6KA10.25540056
87PTK60.25438475
88PTK2B0.24238457
89TBK10.23680287
90PDK10.22829084
91MAPK100.21123367
92MTOR0.20855309
93SGK10.20629108
94ARAF0.20427053
95RPS6KB10.19883079
96PRKG10.19116565
97EPHA30.18904775
98RPS6KA30.18536878
99MARK20.18238717
100TAOK20.18034241
101PRKD30.16833278
102MAPK70.16538627
103PRKCE0.15815001
104PRKCH0.14945613
105RPS6KB20.14799587
106DAPK20.14230659
107MARK30.13640800
108MAP3K10.13034689
109ZAP700.12949292
110LATS10.12312198
111MAPK130.11507069
112SGK4940.10677329
113SGK2230.10677329
114LRRK20.10157473
115STK110.10138627
116MAP3K60.09970233
117SGK30.09624657
118FER0.09274804
119MAPK40.08979684
120RPS6KA20.08883625
121MAP2K10.08786808
122PRPF4B0.08617611
123RAF10.07747702
124MAP3K100.07223319
125NLK0.06960430
126EPHB20.06857919
127PAK60.06343961
128CDK190.06074758
129EEF2K0.05883292

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.75691652
2Cardiac muscle contraction_Homo sapiens_hsa042604.32081284
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.28896435
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.81341421
5Dilated cardiomyopathy_Homo sapiens_hsa054143.69933996
6Propanoate metabolism_Homo sapiens_hsa006403.26974918
7Parkinsons disease_Homo sapiens_hsa050123.24367952
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.23421189
9Oxidative phosphorylation_Homo sapiens_hsa001903.14536902
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.73189847
11Fatty acid degradation_Homo sapiens_hsa000712.65754258
12Carbon metabolism_Homo sapiens_hsa012002.55674702
13Alzheimers disease_Homo sapiens_hsa050102.45147887
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.29156818
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.24978331
16Fatty acid metabolism_Homo sapiens_hsa012122.01700537
17Huntingtons disease_Homo sapiens_hsa050161.99179778
18Pyruvate metabolism_Homo sapiens_hsa006201.80690162
19Viral myocarditis_Homo sapiens_hsa054161.73446590
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64206646
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.48826920
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.47092951
23Starch and sucrose metabolism_Homo sapiens_hsa005001.42129285
24Biosynthesis of amino acids_Homo sapiens_hsa012301.30882797
25Glucagon signaling pathway_Homo sapiens_hsa049221.26774002
26Butanoate metabolism_Homo sapiens_hsa006501.24323416
27Insulin resistance_Homo sapiens_hsa049311.24057982
28Insulin signaling pathway_Homo sapiens_hsa049101.17459779
29Adipocytokine signaling pathway_Homo sapiens_hsa049201.14731118
30Fatty acid elongation_Homo sapiens_hsa000621.04992996
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.01670471
32PPAR signaling pathway_Homo sapiens_hsa033200.96840287
33cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94012246
34Arginine and proline metabolism_Homo sapiens_hsa003300.90443839
35AMPK signaling pathway_Homo sapiens_hsa041520.89837694
36Galactose metabolism_Homo sapiens_hsa000520.89047725
37Calcium signaling pathway_Homo sapiens_hsa040200.87647435
38Oxytocin signaling pathway_Homo sapiens_hsa049210.86824682
39Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.83788498
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.79078174
41Fructose and mannose metabolism_Homo sapiens_hsa000510.78022326
42Arginine biosynthesis_Homo sapiens_hsa002200.77400089
43HIF-1 signaling pathway_Homo sapiens_hsa040660.72307783
44Circadian rhythm_Homo sapiens_hsa047100.69928800
45Focal adhesion_Homo sapiens_hsa045100.69412695
46beta-Alanine metabolism_Homo sapiens_hsa004100.69096649
47Nitrogen metabolism_Homo sapiens_hsa009100.66215093
48Tryptophan metabolism_Homo sapiens_hsa003800.66034314
49Tight junction_Homo sapiens_hsa045300.65399813
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.64735189
51Long-term potentiation_Homo sapiens_hsa047200.63378458
52Fatty acid biosynthesis_Homo sapiens_hsa000610.61225127
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.61050689
54Lysine degradation_Homo sapiens_hsa003100.59460150
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.58221520
56Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.54572030
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.52375871
58Type II diabetes mellitus_Homo sapiens_hsa049300.51879116
59Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48794702
60Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47960869
61Peroxisome_Homo sapiens_hsa041460.46405881
62Phenylalanine metabolism_Homo sapiens_hsa003600.45425603
63Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.42393061
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39580339
65Gastric acid secretion_Homo sapiens_hsa049710.38199683
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38010365
67Salivary secretion_Homo sapiens_hsa049700.36013545
68Renin secretion_Homo sapiens_hsa049240.34054805
69Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.33110058
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32018911
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30693529
72Regulation of autophagy_Homo sapiens_hsa041400.29081152
73Metabolic pathways_Homo sapiens_hsa011000.28824858
74Adherens junction_Homo sapiens_hsa045200.28441812
75Amphetamine addiction_Homo sapiens_hsa050310.25957852
76Cysteine and methionine metabolism_Homo sapiens_hsa002700.25845247
77Insulin secretion_Homo sapiens_hsa049110.25645969
78mTOR signaling pathway_Homo sapiens_hsa041500.25591261
79Pentose phosphate pathway_Homo sapiens_hsa000300.25480494
80ECM-receptor interaction_Homo sapiens_hsa045120.25188820
81Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23911509
82cAMP signaling pathway_Homo sapiens_hsa040240.23889314
83VEGF signaling pathway_Homo sapiens_hsa043700.22829750
84Amoebiasis_Homo sapiens_hsa051460.21534190
85GnRH signaling pathway_Homo sapiens_hsa049120.20803831
86Renal cell carcinoma_Homo sapiens_hsa052110.19685436
87FoxO signaling pathway_Homo sapiens_hsa040680.19427597
88Fat digestion and absorption_Homo sapiens_hsa049750.19154722
89Histidine metabolism_Homo sapiens_hsa003400.18397038
90Sulfur relay system_Homo sapiens_hsa041220.18040703
91Long-term depression_Homo sapiens_hsa047300.15652222
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.15249894
93Proteoglycans in cancer_Homo sapiens_hsa052050.14779243
94Melanogenesis_Homo sapiens_hsa049160.14343792
95Purine metabolism_Homo sapiens_hsa002300.13621137
96Platelet activation_Homo sapiens_hsa046110.13372494
97Aldosterone synthesis and secretion_Homo sapiens_hsa049250.11681001
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.11038369
99Tyrosine metabolism_Homo sapiens_hsa003500.10902003
100MAPK signaling pathway_Homo sapiens_hsa040100.10475974
101Oocyte meiosis_Homo sapiens_hsa041140.08785451
102Olfactory transduction_Homo sapiens_hsa047400.08376043
103Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.07662666
104Gap junction_Homo sapiens_hsa045400.04199455
105Dorso-ventral axis formation_Homo sapiens_hsa043200.04130367
106Glycerolipid metabolism_Homo sapiens_hsa005610.02816899
107Circadian entrainment_Homo sapiens_hsa047130.02272335
108Pancreatic secretion_Homo sapiens_hsa049720.02180739
109Notch signaling pathway_Homo sapiens_hsa043300.00058406
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.00033236
111Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962-0.0810264
112Linoleic acid metabolism_Homo sapiens_hsa00591-0.0655254
113Acute myeloid leukemia_Homo sapiens_hsa05221-0.0561814
114Toxoplasmosis_Homo sapiens_hsa05145-0.0415605
115Bile secretion_Homo sapiens_hsa04976-0.0342804
116Cholinergic synapse_Homo sapiens_hsa04725-0.0205504
117Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0134570
118alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0070871

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