TNNT3

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 binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle fiber development (GO:0048741)8.76589882
2* actin filament-based movement (GO:0030048)7.91702091
3plasma membrane repair (GO:0001778)7.54606464
4myotube cell development (GO:0014904)7.49421598
5skeletal muscle tissue regeneration (GO:0043403)6.86860385
6positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.82995740
7response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.61903502
8sarcomere organization (GO:0045214)6.53668107
9* striated muscle contraction (GO:0006941)6.50935388
10glycogen catabolic process (GO:0005980)6.47356700
11creatine metabolic process (GO:0006600)6.37424304
12striated muscle atrophy (GO:0014891)6.10157970
13glucan catabolic process (GO:0009251)6.06094057
14purine nucleotide salvage (GO:0032261)5.91325685
15pyrimidine ribonucleoside catabolic process (GO:0046133)5.88729193
16myofibril assembly (GO:0030239)5.82750077
17response to inactivity (GO:0014854)5.76876178
18regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.70601992
19response to muscle activity (GO:0014850)5.68239824
20cellular polysaccharide catabolic process (GO:0044247)5.63742372
21* muscle contraction (GO:0006936)5.63170777
22cytidine metabolic process (GO:0046087)5.62605866
23cytidine catabolic process (GO:0006216)5.62605866
24cytidine deamination (GO:0009972)5.62605866
25carnitine shuttle (GO:0006853)5.58612175
26regulation of cell communication by electrical coupling (GO:0010649)5.56830515
27regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.50088622
28polysaccharide catabolic process (GO:0000272)5.44239477
29muscle atrophy (GO:0014889)5.29059061
30striated muscle adaptation (GO:0014888)5.27320901
31muscle fiber development (GO:0048747)5.19154232
32glucan biosynthetic process (GO:0009250)5.06479827
33glycogen biosynthetic process (GO:0005978)5.06479827
34* muscle system process (GO:0003012)5.00427328
35IMP metabolic process (GO:0046040)4.95251599
36positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.86181796
37negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.77249397
38fatty acid transmembrane transport (GO:1902001)4.72191136
39actomyosin structure organization (GO:0031032)4.66169827
40negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.42614422
41glycogen metabolic process (GO:0005977)4.39629492
42NADH metabolic process (GO:0006734)4.38597041
43regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.38401050
44cardiac muscle hypertrophy (GO:0003300)4.35918748
45glucan metabolic process (GO:0044042)4.30812747
46cellular glucan metabolic process (GO:0006073)4.30812747
47muscle adaptation (GO:0043500)4.26459166
48regulation of skeletal muscle cell differentiation (GO:2001014)4.21166627
49negative regulation of muscle hypertrophy (GO:0014741)4.17300253
50striated muscle hypertrophy (GO:0014897)4.15916402
51carnitine transmembrane transport (GO:1902603)4.13502672
52muscle organ development (GO:0007517)4.06085721
53muscle cell cellular homeostasis (GO:0046716)4.05694688
54regulation of relaxation of muscle (GO:1901077)4.00640093
55muscle structure development (GO:0061061)4.00230328
56regulation of acyl-CoA biosynthetic process (GO:0050812)3.98412723
57negative regulation of skeletal muscle tissue development (GO:0048642)3.98292332
58response to activity (GO:0014823)3.89693116
59myotube differentiation (GO:0014902)3.89692387
60fructose metabolic process (GO:0006000)3.88793713
61cardiac muscle contraction (GO:0060048)3.87144506
62neuronal action potential propagation (GO:0019227)3.85750444
63skeletal muscle tissue development (GO:0007519)3.83351531
64neuromuscular synaptic transmission (GO:0007274)3.83197320
65IMP biosynthetic process (GO:0006188)3.82687098
66striated muscle cell development (GO:0055002)3.82214867
67muscle organ morphogenesis (GO:0048644)3.80393129
68muscle tissue morphogenesis (GO:0060415)3.80272049
69regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.77945786
70carnitine transport (GO:0015879)3.76938130
71amino-acid betaine transport (GO:0015838)3.76938130
72muscle hypertrophy (GO:0014896)3.75952323
73positive regulation of myotube differentiation (GO:0010831)3.69879330
74myoblast fusion (GO:0007520)3.67676375
75cellular response to dexamethasone stimulus (GO:0071549)3.67619033
76negative regulation of potassium ion transmembrane transport (GO:1901380)3.64093124
77striated muscle tissue development (GO:0014706)3.63168565
782-oxoglutarate metabolic process (GO:0006103)3.60372615
79gluconeogenesis (GO:0006094)3.59482329
80* regulation of striated muscle contraction (GO:0006942)3.59372011
81regulation of coenzyme metabolic process (GO:0051196)3.58384810
82regulation of cofactor metabolic process (GO:0051193)3.58384810
83negative regulation of calcium ion transmembrane transport (GO:1903170)3.57215442
84negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.57215442
85cellular carbohydrate catabolic process (GO:0044275)3.55404418
86regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.53689711
87cardiac muscle tissue morphogenesis (GO:0055008)3.52031934
88negative regulation of protein localization to cell surface (GO:2000009)3.51610930
89cardiac muscle cell development (GO:0055013)3.47134135
90regulation of calcium ion transmembrane transport (GO:1903169)3.44146017
91regulation of calcium ion transmembrane transporter activity (GO:1901019)3.44146017
92regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.43655652
93response to dexamethasone (GO:0071548)3.42356751
94negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.41207147
95regulation of myotube differentiation (GO:0010830)3.35671372
96regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.34521439
97positive regulation of myoblast differentiation (GO:0045663)3.32844526
98syncytium formation (GO:0006949)3.32536242
99regulation of sarcomere organization (GO:0060297)3.32379272
100adult heart development (GO:0007512)3.32246190
101muscle cell fate commitment (GO:0042693)3.30615663
102syncytium formation by plasma membrane fusion (GO:0000768)3.28731365
103muscle cell development (GO:0055001)3.26531784
104negative regulation of muscle contraction (GO:0045932)3.26303217
105cardiac cell development (GO:0055006)3.23826355
106regulation of myoblast differentiation (GO:0045661)3.21739956
107heart contraction (GO:0060047)3.20590995
108regulation of skeletal muscle fiber development (GO:0048742)3.20079970
109neuromuscular junction development (GO:0007528)3.19837298
110hexose biosynthetic process (GO:0019319)3.19631086
111muscle tissue development (GO:0060537)3.18204030
112tricarboxylic acid cycle (GO:0006099)3.17194742
113cardiac muscle adaptation (GO:0014887)3.16870944
114muscle hypertrophy in response to stress (GO:0003299)3.16870944
115cellular polysaccharide metabolic process (GO:0044264)3.09134987
116positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.06018358
117cardiac myofibril assembly (GO:0055003)3.05099158
118regulation of actin filament-based movement (GO:1903115)3.03884979
119skeletal muscle cell differentiation (GO:0035914)3.03315934
120cellular polysaccharide biosynthetic process (GO:0033692)3.02218404
121negative regulation of cAMP-mediated signaling (GO:0043951)3.01644975
122heart process (GO:0003015)3.01563827
123* muscle filament sliding (GO:0030049)13.0402910
124* actin-myosin filament sliding (GO:0033275)13.0402910
125regulation of skeletal muscle contraction (GO:0014819)12.7665402
126sarcoplasmic reticulum calcium ion transport (GO:0070296)10.7848196
127* skeletal muscle contraction (GO:0003009)10.7820982
128* actin-mediated cell contraction (GO:0070252)10.6299558
129skeletal muscle adaptation (GO:0043501)10.0535470

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.26421687
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.32526309
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.42235823
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.40487258
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.18206727
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.12950220
7TP63_17297297_ChIP-ChIP_HaCaT_Human2.69151831
8ZNF263_19887448_ChIP-Seq_K562_Human2.52007142
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.46780078
10TBX20_22080862_ChIP-Seq_HEART_Mouse2.38584677
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.38584677
12ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.36163568
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.15433862
14AR_21572438_ChIP-Seq_LNCaP_Human2.04795379
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.04170383
16* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.99234705
17ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.92325794
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.89170112
19CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.83791800
20MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.78854853
21ESR2_21235772_ChIP-Seq_MCF-7_Human1.76638603
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73917182
23TRIM28_21343339_ChIP-Seq_HEK293_Human1.72431508
24* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.71098542
25P63_26484246_Chip-Seq_KERATINOCYTES_Human1.66825656
26* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.65974634
27* CTCF_27219007_Chip-Seq_Bcells_Human1.62667018
28ZNF274_21170338_ChIP-Seq_K562_Hela1.59130555
29CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.58252025
30* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.57055089
31CLOCK_20551151_ChIP-Seq_293T_Human1.55560653
32* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.51555555
33DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46617132
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.43100029
35EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.39654790
36* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.39614142
37FOXH1_21741376_ChIP-Seq_ESCs_Human1.38685406
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.37675978
39EP300_21415370_ChIP-Seq_HL-1_Mouse1.34636044
40SA1_27219007_Chip-Seq_Bcells_Human1.33955658
41NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.32691756
42ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.28162115
43KDM2B_26808549_Chip-Seq_DND41_Human1.26207626
44RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.25701769
45CTCF_21964334_Chip-Seq_Bcells_Human1.24040775
46TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22828606
47ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.22515376
48PPARA_22158963_ChIP-Seq_LIVER_Mouse1.21322586
49RBPJ_22232070_ChIP-Seq_NCS_Mouse1.21102311
50YY1_22570637_ChIP-Seq_MALME-3M_Human1.20862660
51RACK7_27058665_Chip-Seq_MCF-7_Human1.20275179
52STAT1_20625510_ChIP-Seq_HELA_Human1.18706386
53IGF1R_20145208_ChIP-Seq_DFB_Human1.16684925
54TDRD3_21172665_ChIP-Seq_MCF-7_Human1.16345375
55UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.16295526
56* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.13831594
57ZFP281_18757296_ChIP-ChIP_E14_Mouse1.13392064
58DROSHA_22980978_ChIP-Seq_HELA_Human1.10067779
59LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.09305308
60LXR_22292898_ChIP-Seq_THP-1_Human1.09213338
61SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06983767
62CRX_20693478_ChIP-Seq_RETINA_Mouse1.06829762
63EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.06652281
64CBP_20019798_ChIP-Seq_JUKART_Human1.06590296
65IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06590296
66CREB1_26743006_Chip-Seq_LNCaP_Human1.06285939
67SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05560838
68TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05191904
69CJUN_26792858_Chip-Seq_BT549_Human1.05116512
70* OCT4_20526341_ChIP-Seq_ESCs_Human1.04981133
71TP53_20018659_ChIP-ChIP_R1E_Mouse1.04015118
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.03333159
73* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.02896252
74NANOG_20526341_ChIP-Seq_ESCs_Human1.02679515
75CEBPB_22108803_ChIP-Seq_LS180_Human1.01884582
76STAT6_21828071_ChIP-Seq_BEAS2B_Human1.01745277
77ELF1_20517297_ChIP-Seq_JURKAT_Human1.01448288
78ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.01231313
79* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.01170500
80P68_20966046_ChIP-Seq_HELA_Human1.01119780
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00665953
82ATF3_27146783_Chip-Seq_COLON_Human1.00583074
83EZH2_27294783_Chip-Seq_ESCs_Mouse1.00482414
84RARB_27405468_Chip-Seq_BRAIN_Mouse1.00217217
85STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.00186130
86E2F1_20622854_ChIP-Seq_HELA_Human0.99963232
87P300_27058665_Chip-Seq_ZR-75-30cells_Human0.99757854
88HIF1A_21447827_ChIP-Seq_MCF-7_Human0.98439097
89TCF7_22412390_ChIP-Seq_EML_Mouse0.98341028
90CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.96993810
91* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.96777957
92WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96291667
93TP63_22573176_ChIP-Seq_HFKS_Human0.95860151
94NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95296570
95KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95061646
96ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.94968078
97GATA4_21415370_ChIP-Seq_HL-1_Mouse0.94755742
98OCT4_21477851_ChIP-Seq_ESCs_Mouse0.94544887
99EZH2_27294783_Chip-Seq_NPCs_Mouse0.93454812
100P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.93066475
101GATA6_21074721_ChIP-Seq_CACO-2_Human0.93031433
102CTCF_26484167_Chip-Seq_Bcells_Mouse0.92318327
103BCL6_27268052_Chip-Seq_Bcells_Human0.91779509
104RXR_22158963_ChIP-Seq_LIVER_Mouse0.91457995
105MTF2_20144788_ChIP-Seq_MESCs_Mouse0.91395824
106CSB_26484114_Chip-Seq_FIBROBLAST_Human0.89996623
107NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89966771
108GATA1_19941827_ChIP-Seq_MEL_Mouse0.89678947
109* RAC3_21632823_ChIP-Seq_H3396_Human0.89103420
110KDM2B_26808549_Chip-Seq_SUP-B15_Human0.88670285
111SPI1_20517297_ChIP-Seq_HL60_Human0.88576252
112FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.88461537
113EZH2_22144423_ChIP-Seq_EOC_Human0.87534226
114PCGF2_27294783_Chip-Seq_ESCs_Mouse0.87244135
115RNF2_18974828_ChIP-Seq_MESCs_Mouse0.86255797
116EZH2_18974828_ChIP-Seq_MESCs_Mouse0.86255797
117GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.86012614
118PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.85394390
119OCT1_27270436_Chip-Seq_PROSTATE_Human0.85255664
120LXR_22158963_ChIP-Seq_LIVER_Mouse0.84627593
121ERG_21242973_ChIP-ChIP_JURKAT_Human0.84076045
122ELK3_25401928_ChIP-Seq_HUVEC_Human0.83464520
123* MYC_27129775_Chip-Seq_CORNEA_Mouse0.83378972
124ESR1_15608294_ChIP-ChIP_MCF-7_Human0.83267039
125PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.83242972
126JARID2_20075857_ChIP-Seq_MESCs_Mouse0.82250637
127P53_22127205_ChIP-Seq_FIBROBLAST_Human0.81699283
128NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.80921964
129NRF2_20460467_ChIP-Seq_MEFs_Mouse0.80921964
130EZH2_27304074_Chip-Seq_ESCs_Mouse0.80262210
131LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.80091571
132RAD21_21589869_ChIP-Seq_MESCs_Mouse0.79831178
133* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.78506417
134* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74397110
135SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.74234562
136FLI1_27457419_Chip-Seq_LIVER_Mouse0.73535710
137MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.73127517
138HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.72440605
139* SOX2_21211035_ChIP-Seq_LN229_Gbm0.72067213
140DPY_21335234_ChIP-Seq_ESCs_Mouse0.70790210
141SMAD3_21741376_ChIP-Seq_HESCs_Human0.70040333
142GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.69746814

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.04824233
2MP0000749_muscle_degeneration6.53082048
3MP0003646_muscle_fatigue5.94050288
4MP0000751_myopathy5.69878425
5MP0000747_muscle_weakness4.62491543
6MP0002106_abnormal_muscle_physiology4.26899740
7MP0004036_abnormal_muscle_relaxation3.91123920
8MP0000759_abnormal_skeletal_muscle3.88903382
9MP0005369_muscle_phenotype3.58559422
10MP0002269_muscular_atrophy3.52340733
11MP0004087_abnormal_muscle_fiber3.45241672
12MP0002837_dystrophic_cardiac_calcinosis3.35655391
13MP0000750_abnormal_muscle_regeneration3.28287343
14MP0004130_abnormal_muscle_cell3.20568002
15MP0005620_abnormal_muscle_contractility3.11429148
16MP0000733_abnormal_muscle_development2.61419314
17MP0004233_abnormal_muscle_weight2.52997774
18MP0002108_abnormal_muscle_morphology2.20662958
19MP0002332_abnormal_exercise_endurance2.11638079
20MP0005330_cardiomyopathy1.85293957
21MP0006036_abnormal_mitochondrial_physio1.75604157
22MP0004185_abnormal_adipocyte_glucose1.74978836
23MP0005275_abnormal_skin_tensile1.63239846
24MP0004084_abnormal_cardiac_muscle1.56222494
25MP0004270_analgesia1.51976462
26MP0002971_abnormal_brown_adipose1.44636454
27MP0005666_abnormal_adipose_tissue1.35852303
28MP0000013_abnormal_adipose_tissue1.34089851
29MP0002972_abnormal_cardiac_muscle1.24849126
30MP0004215_abnormal_myocardial_fiber1.22912037
31MP0004484_altered_response_of1.21627154
32MP0003705_abnormal_hypodermis_morpholog1.18204460
33MP0003950_abnormal_plasma_membrane1.15070226
34MP0010630_abnormal_cardiac_muscle1.14641095
35MP0005375_adipose_tissue_phenotype1.08567129
36MP0003806_abnormal_nucleotide_metabolis1.02161627
37MP0003221_abnormal_cardiomyocyte_apopto1.01168450
38MP0001661_extended_life_span0.97008825
39MP0002822_catalepsy0.96101642
40MP0005266_abnormal_metabolism0.95547667
41MP0004134_abnormal_chest_morphology0.94547939
42MP0006035_abnormal_mitochondrial_morpho0.87587963
43MP0002234_abnormal_pharynx_morphology0.83825067
44MP0002796_impaired_skin_barrier0.81499448
45MP0000762_abnormal_tongue_morphology0.81284764
46MP0001544_abnormal_cardiovascular_syste0.77676524
47MP0005385_cardiovascular_system_phenoty0.77676524
48MP0009250_abnormal_appendicular_skeleto0.76280772
49MP0000372_irregular_coat_pigmentation0.76269349
50MP0009780_abnormal_chondrocyte_physiolo0.74303147
51MP0001299_abnormal_eye_distance/0.73832275
52MP0003828_pulmonary_edema0.72327408
53MP0000003_abnormal_adipose_tissue0.69512021
54MP0003656_abnormal_erythrocyte_physiolo0.68974710
55MP0000579_abnormal_nail_morphology0.65864986
56MP0004085_abnormal_heartbeat0.65657456
57MP0004147_increased_porphyrin_level0.64842268
58MP0008961_abnormal_basal_metabolism0.64756774
59MP0003137_abnormal_impulse_conducting0.61058144
60MP0003879_abnormal_hair_cell0.60372471
61MP0005503_abnormal_tendon_morphology0.59562927
62MP0010030_abnormal_orbit_morphology0.59058481
63MP0005334_abnormal_fat_pad0.57951159
64MP0002078_abnormal_glucose_homeostasis0.53651413
65MP0004043_abnormal_pH_regulation0.53594430
66MP0008438_abnormal_cutaneous_collagen0.53292581
67MP0000383_abnormal_hair_follicle0.52197671
68MP0005670_abnormal_white_adipose0.50346499
69MP0001243_abnormal_dermal_layer0.48548028
70MP0000266_abnormal_heart_morphology0.48424209
71MP0002896_abnormal_bone_mineralization0.47764558
72MP0002089_abnormal_postnatal_growth/wei0.47514456
73MP0000343_altered_response_to0.46940156
74MP0003045_fibrosis0.46652767
75MP0005452_abnormal_adipose_tissue0.45032147
76MP0008775_abnormal_heart_ventricle0.44472925
77MP0002127_abnormal_cardiovascular_syste0.42619387
78MP0008569_lethality_at_weaning0.42237090
79MP0003959_abnormal_lean_body0.42064346
80MP0002734_abnormal_mechanical_nocicepti0.41661885
81MP0009672_abnormal_birth_weight0.41420359
82MP0001346_abnormal_lacrimal_gland0.41220664
83MP0002249_abnormal_larynx_morphology0.40491577
84MP0005501_abnormal_skin_physiology0.39992771
85MP0005083_abnormal_biliary_tract0.39030153
86MP0005584_abnormal_enzyme/coenzyme_acti0.38889502
87MP0002114_abnormal_axial_skeleton0.38527463
88MP0001849_ear_inflammation0.37340266
89MP0006276_abnormal_autonomic_nervous0.35284572
90MP0002060_abnormal_skin_morphology0.34922850
91MP0000427_abnormal_hair_cycle0.34234331
92MP0006138_congestive_heart_failure0.33271256
93MP0010678_abnormal_skin_adnexa0.32738436
94MP0005376_homeostasis/metabolism_phenot0.30801690
95MP0009115_abnormal_fat_cell0.30748446
96MP0005167_abnormal_blood-brain_barrier0.30669029
97MP0003948_abnormal_gas_homeostasis0.30537321
98MP0004510_myositis0.30000645
99MP0005535_abnormal_body_temperature0.29782676
100MP0004142_abnormal_muscle_tone0.28709846
101MP0005319_abnormal_enzyme/_coenzyme0.28696181
102MP0000377_abnormal_hair_follicle0.27835429
103MP0002638_abnormal_pupillary_reflex0.27564504
104MP0005165_increased_susceptibility_to0.26837043
105MP0001943_abnormal_respiration0.24063754
106MP0003385_abnormal_body_wall0.22929408
107MP0000534_abnormal_ureter_morphology0.22204245
108MP0004858_abnormal_nervous_system0.22030104
109MP0005451_abnormal_body_composition0.21712377
110MP0008770_decreased_survivor_rate0.21096592
111MP0000230_abnormal_systemic_arterial0.20674247
112MP0003755_abnormal_palate_morphology0.20429233
113MP0005166_decreased_susceptibility_to0.20103148
114MP0009931_abnormal_skin_appearance0.19963593
115MP0002128_abnormal_blood_circulation0.19281797
116MP0004197_abnormal_fetal_growth/weight/0.19278974
117MP0002932_abnormal_joint_morphology0.19116829
118MP0005076_abnormal_cell_differentiation0.18989623
119MP0002066_abnormal_motor_capabilities/c0.17415426
120MP0005423_abnormal_somatic_nervous0.17361504
121MP0001542_abnormal_bone_strength0.15629885
122MP0005187_abnormal_penis_morphology0.14352968

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)9.73432165
2Exercise-induced myalgia (HP:0003738)8.70246430
3Type 1 muscle fiber predominance (HP:0003803)8.10746995
4Exercise-induced muscle cramps (HP:0003710)7.86703938
5Myopathic facies (HP:0002058)7.18349692
6* Distal arthrogryposis (HP:0005684)6.96182002
7Muscle hypertrophy of the lower extremities (HP:0008968)6.77620432
8Calf muscle hypertrophy (HP:0008981)6.03484019
9Difficulty running (HP:0009046)5.45531981
10Muscle fiber splitting (HP:0003555)5.31937752
11Myoglobinuria (HP:0002913)5.08417004
12* Round ear (HP:0100830)5.06789513
13Hyporeflexia of lower limbs (HP:0002600)4.99515703
14* Ulnar deviation of the wrist (HP:0003049)4.89760065
15EMG: myopathic abnormalities (HP:0003458)4.66769784
16Muscle stiffness (HP:0003552)4.65241092
17Increased connective tissue (HP:0009025)4.55531188
18Rhabdomyolysis (HP:0003201)4.26763694
19Abnormality of the calf musculature (HP:0001430)4.15632752
20* Calcaneovalgus deformity (HP:0001848)4.15436243
21* Absent phalangeal crease (HP:0006109)4.11208231
22Abnormality of skeletal muscle fiber size (HP:0012084)4.10352359
23Myotonia (HP:0002486)4.08840102
24Malignant hyperthermia (HP:0002047)3.96058048
25* Deformed tarsal bones (HP:0008119)3.93760872
26Neck muscle weakness (HP:0000467)3.76750201
27Increased variability in muscle fiber diameter (HP:0003557)3.61104117
28Frequent falls (HP:0002359)3.53517518
29Subaortic stenosis (HP:0001682)3.52544050
30Abnormality of the left ventricular outflow tract (HP:0011103)3.52544050
31Rimmed vacuoles (HP:0003805)3.50699471
32Difficulty climbing stairs (HP:0003551)3.42201732
33* Abnormal finger flexion creases (HP:0006143)3.36687702
34Pelvic girdle muscle weakness (HP:0003749)3.21232077
35Shoulder girdle muscle weakness (HP:0003547)3.20770128
36Areflexia of lower limbs (HP:0002522)3.17148006
37Popliteal pterygium (HP:0009756)3.12272278
38Abnormality of the hip-girdle musculature (HP:0001445)3.10048374
39Abnormality of the musculature of the pelvis (HP:0001469)3.10048374
40Slender build (HP:0001533)3.09123693
41Fatigable weakness (HP:0003473)2.97343710
42Abnormality of the neuromuscular junction (HP:0003398)2.97343710
43Hyperkalemia (HP:0002153)2.93996382
44Asymmetric septal hypertrophy (HP:0001670)2.80356615
45EMG: neuropathic changes (HP:0003445)2.66934084
46Distal lower limb muscle weakness (HP:0009053)2.65816700
47Mildly elevated creatine phosphokinase (HP:0008180)2.63488290
48Sudden death (HP:0001699)2.62707896
49Bundle branch block (HP:0011710)2.61167544
50Paralysis (HP:0003470)2.55824973
51Bulbar palsy (HP:0001283)2.55580726
52Fetal akinesia sequence (HP:0001989)2.51106548
53Generalized muscle weakness (HP:0003324)2.45625323
54Spinal rigidity (HP:0003306)2.42360678
55Muscular dystrophy (HP:0003560)2.37342721
56Centrally nucleated skeletal muscle fibers (HP:0003687)2.34733643
57* Abnormality of the calcaneus (HP:0008364)2.33137034
58Gowers sign (HP:0003391)2.30692698
59Weak cry (HP:0001612)2.26405175
60Abnormality of placental membranes (HP:0011409)2.26323192
61Amniotic constriction ring (HP:0009775)2.26323192
62Nonprogressive disorder (HP:0003680)2.26089807
63Proximal amyotrophy (HP:0007126)2.24694676
64Limb-girdle muscle weakness (HP:0003325)2.24677593
65Hypoplastic ischia (HP:0003175)2.24495907
66Scapular winging (HP:0003691)2.22548000
67Facial diplegia (HP:0001349)2.21545389
68Abnormality of the shoulder girdle musculature (HP:0001435)2.14367472
69Limb-girdle muscle atrophy (HP:0003797)2.07508071
70Distal lower limb amyotrophy (HP:0008944)2.04047987
71Breech presentation (HP:0001623)2.00707633
72Muscle fiber inclusion bodies (HP:0100299)10.4822593
73Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.1693388
74Abnormality of the ischium (HP:0003174)1.96082645
75Waddling gait (HP:0002515)1.94840816
76Progressive muscle weakness (HP:0003323)1.93578529
77Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.92351349
78Hip contracture (HP:0003273)1.87300977
79Abnormality of the foot musculature (HP:0001436)1.85997030
80Achilles tendon contracture (HP:0001771)1.84639047
81Aplasia of the musculature (HP:0100854)1.83832331
82Limited hip movement (HP:0008800)1.81612918
83* Ulnar deviation of finger (HP:0009465)1.72576677
84Trismus (HP:0000211)1.70630666
85Respiratory insufficiency due to muscle weakness (HP:0002747)1.70399383
86Heart block (HP:0012722)1.69682920
87Abnormality of the Achilles tendon (HP:0005109)1.67622846
88Ventricular tachycardia (HP:0004756)1.67370828
89Long clavicles (HP:0000890)1.64654879
90* Metatarsus adductus (HP:0001840)1.62279316
91Short palpebral fissure (HP:0012745)1.61938398
92Abnormal atrioventricular conduction (HP:0005150)1.61336630
93Increased density of long bones (HP:0006392)1.60787713
94Type 2 muscle fiber atrophy (HP:0003554)1.60346747
95Easy fatigability (HP:0003388)1.58566642
96Exercise intolerance (HP:0003546)1.56576321
97Congenital hip dislocation (HP:0001374)1.54752853
98Cholelithiasis (HP:0001081)1.54339098
99Stridor (HP:0010307)1.53934375
100Abnormality of potassium homeostasis (HP:0011042)1.51947169
101Lower limb amyotrophy (HP:0007210)1.51347861
102Increased purine levels (HP:0004368)1.49612019
103Hyperuricemia (HP:0002149)1.49612019
104Ventricular arrhythmia (HP:0004308)1.45886611
105Muscle fiber atrophy (HP:0100295)1.44497376
106Mesomelia (HP:0003027)1.44349473
107Ragged-red muscle fibers (HP:0003200)1.42363979
108Gout (HP:0001997)1.41864667
109Thin ribs (HP:0000883)1.41455857
110Lipoatrophy (HP:0100578)1.40787189
111Dilated cardiomyopathy (HP:0001644)1.40341199
112Foot dorsiflexor weakness (HP:0009027)1.40058324
113Symphalangism affecting the phalanges of the hand (HP:0009773)1.39286983
114Fibular aplasia (HP:0002990)1.38807333
115Oligomenorrhea (HP:0000876)1.37684621
116* Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.36441714
117Wrist flexion contracture (HP:0001239)1.36182476
118Steppage gait (HP:0003376)1.33011347

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.66198386
2TTN6.15438536
3PHKG15.46307855
4PHKG25.46307855
5NME14.37040554
6PIK3CG4.19537042
7MAP2K32.90537260
8NEK12.29350447
9TRIB32.16344312
10MAP3K72.12872920
11PINK11.98342729
12PDK31.77778247
13PDK41.77778247
14PIK3CA1.70735222
15DMPK1.67704295
16MAPK121.64406020
17MUSK1.61235226
18MAP2K41.59833112
19MAP2K61.43605445
20BCKDK1.32629824
21PDK21.17551825
22MAPKAPK31.07364565
23MAP3K30.98218118
24MARK10.90286551
25NEK90.87660582
26PRKAA20.85332745
27PRKAA10.79479752
28TRPM70.75109617
29STK240.72550468
30TAOK20.72545019
31ERBB30.71185301
32MAP3K130.69681975
33AKT20.63959414
34SIK10.62951756
35MAPK110.62690633
36PKN20.62133813
37EPHB10.62120776
38CAMK2G0.58110311
39MAP3K110.57487782
40ZAK0.57197122
41TAOK10.57132670
42RIPK10.52960671
43ILK0.51674000
44CAMK40.51669801
45LIMK10.49952944
46PTK60.46218945
47EEF2K0.44221469
48CAMK2A0.39745535
49CAMK2B0.36120673
50CAMK10.35712467
51MOS0.34443552
52SGK10.34131988
53MAP3K60.31458722
54MAP3K50.31215672
55MAP3K100.30902695
56KSR20.30446752
57MAP2K10.29377932
58PRKG10.28975734
59MAPK130.27413588
60LATS10.27245217
61TBK10.27222484
62RPS6KB10.26855822
63MAP3K10.26811773
64SGK20.25742013
65PRKACB0.25596480
66ARAF0.25391109
67CDK190.25128113
68PKN10.25062307
69RPS6KA30.24540972
70MARK20.24230509
71ROCK10.22847799
72ERN10.22213782
73MAPK70.21192466
74MAPK40.20543760
75PRKACA0.18148020
76PRPF4B0.16810660
77PDPK10.16799622
78LRRK20.16156578
79PRKD10.15728308
80CAMK1G0.15334459
81LATS20.15063669
82TGFBR20.14892334
83DYRK1B0.13806787
84FER0.13660364
85TYK20.13621223
86MST1R0.13482915
87TIE10.13460130
88DAPK20.12575854
89RPS6KL10.11834964
90RPS6KC10.11834964
91PDK10.11719226
92RAF10.11222269
93INSRR0.11174595
94PAK60.10395819
95DDR20.10384719
96ZAP700.09582729
97BMX0.09523379
98FGFR10.09222520
99MAP2K20.08997317
100RPS6KA10.08390839
101SGK2230.07626137
102SGK4940.07626137
103RPS6KA60.07498037
104RPS6KB20.07186576
105ICK0.06669987
106MTOR0.06516065
107ROCK20.06219397
108CDC42BPA0.05929014
109RPS6KA20.05885567
110NLK0.04896825
111GSK3A0.03833872
112MAPK100.03695039
113PRKACG0.03252685
114EPHA30.03156469
115JAK20.03019745
116TNK20.03003752
117PRKG20.02899170
118CAMK2D0.02890286
119BRAF0.02727004
120CSNK1D0.02595096
121SGK30.02249816
122MAPK80.02114209
123PTK2B0.01890693
124FGFR30.01493861
125PDGFRA0.01250782
126RET0.00517282
127STK110.00367321
128CDK6-0.0230890
129CCNB1-0.0199042
130KSR1-0.0180499

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.42721441
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.97142557
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.88981867
4Cardiac muscle contraction_Homo sapiens_hsa042603.60657262
5Dilated cardiomyopathy_Homo sapiens_hsa054143.56204530
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.05396286
7Starch and sucrose metabolism_Homo sapiens_hsa005002.99736011
8Glucagon signaling pathway_Homo sapiens_hsa049222.39827969
9Circadian rhythm_Homo sapiens_hsa047102.36399191
10Oxytocin signaling pathway_Homo sapiens_hsa049212.35863489
11Insulin signaling pathway_Homo sapiens_hsa049102.34667944
12Insulin resistance_Homo sapiens_hsa049312.15950953
13Propanoate metabolism_Homo sapiens_hsa006402.10404185
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.08962291
15Carbon metabolism_Homo sapiens_hsa012002.01897961
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.84047155
17Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.83979893
18Adipocytokine signaling pathway_Homo sapiens_hsa049201.83116323
19AMPK signaling pathway_Homo sapiens_hsa041521.73983080
20Calcium signaling pathway_Homo sapiens_hsa040201.72792195
21Galactose metabolism_Homo sapiens_hsa000521.70165965
22Tight junction_Homo sapiens_hsa045301.56173562
23Fructose and mannose metabolism_Homo sapiens_hsa000511.51031305
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.50385224
25Alzheimers disease_Homo sapiens_hsa050101.46879556
26Parkinsons disease_Homo sapiens_hsa050121.44928751
27Biosynthesis of amino acids_Homo sapiens_hsa012301.41524514
28Viral myocarditis_Homo sapiens_hsa054161.38746489
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37793142
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.36111547
31cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27464160
32Pyruvate metabolism_Homo sapiens_hsa006201.24771297
33Fatty acid degradation_Homo sapiens_hsa000711.23826720
34Arginine and proline metabolism_Homo sapiens_hsa003301.21301132
35Focal adhesion_Homo sapiens_hsa045101.21226175
36Vascular smooth muscle contraction_Homo sapiens_hsa042701.15897046
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.12183831
38Oxidative phosphorylation_Homo sapiens_hsa001901.12053335
39Gastric acid secretion_Homo sapiens_hsa049711.09361245
40Pentose phosphate pathway_Homo sapiens_hsa000301.08858084
41GnRH signaling pathway_Homo sapiens_hsa049121.05105092
42Central carbon metabolism in cancer_Homo sapiens_hsa052300.98263164
43FoxO signaling pathway_Homo sapiens_hsa040680.96542652
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.91510253
45Longevity regulating pathway - mammal_Homo sapiens_hsa042110.88710831
46Fatty acid metabolism_Homo sapiens_hsa012120.86989431
47VEGF signaling pathway_Homo sapiens_hsa043700.82422611
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81893493
49HIF-1 signaling pathway_Homo sapiens_hsa040660.79854954
50mTOR signaling pathway_Homo sapiens_hsa041500.77588711
51Renin secretion_Homo sapiens_hsa049240.73257982
52MAPK signaling pathway_Homo sapiens_hsa040100.71768473
53Arginine biosynthesis_Homo sapiens_hsa002200.71291996
54Fatty acid biosynthesis_Homo sapiens_hsa000610.66257532
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65260733
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64114821
57Platelet activation_Homo sapiens_hsa046110.63173445
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.58842898
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.58732811
60Amoebiasis_Homo sapiens_hsa051460.56099045
61PPAR signaling pathway_Homo sapiens_hsa033200.55443411
62Proteoglycans in cancer_Homo sapiens_hsa052050.53969448
63Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52920090
64Insulin secretion_Homo sapiens_hsa049110.52363226
65Adherens junction_Homo sapiens_hsa045200.52153722
66Huntingtons disease_Homo sapiens_hsa050160.45433586
67beta-Alanine metabolism_Homo sapiens_hsa004100.42032513
68Type II diabetes mellitus_Homo sapiens_hsa049300.40151745
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37228290
70Long-term depression_Homo sapiens_hsa047300.36082854
71Renal cell carcinoma_Homo sapiens_hsa052110.34410147
72Amphetamine addiction_Homo sapiens_hsa050310.34129377
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33542526
74cAMP signaling pathway_Homo sapiens_hsa040240.32495785
75Aldosterone synthesis and secretion_Homo sapiens_hsa049250.31756123
76Phototransduction_Homo sapiens_hsa047440.31344233
77ECM-receptor interaction_Homo sapiens_hsa045120.29806425
78Lysine degradation_Homo sapiens_hsa003100.29175607
79AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.27837218
80Histidine metabolism_Homo sapiens_hsa003400.27798449
81Protein digestion and absorption_Homo sapiens_hsa049740.27770549
82Phenylalanine metabolism_Homo sapiens_hsa003600.24955998
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.24921906
84Olfactory transduction_Homo sapiens_hsa047400.24108792
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.23943696
86Pancreatic secretion_Homo sapiens_hsa049720.22357667
87Peroxisome_Homo sapiens_hsa041460.21927846
88Tryptophan metabolism_Homo sapiens_hsa003800.21460731
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19967167
90Cholinergic synapse_Homo sapiens_hsa047250.19300873
91Thyroid cancer_Homo sapiens_hsa052160.18621774
92Melanogenesis_Homo sapiens_hsa049160.18347460
93Butanoate metabolism_Homo sapiens_hsa006500.17926664
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.17402200
95Regulation of autophagy_Homo sapiens_hsa041400.17115907
96Prolactin signaling pathway_Homo sapiens_hsa049170.16966518
97Nitrogen metabolism_Homo sapiens_hsa009100.16618893
98Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.15014650
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.14394167
100Fat digestion and absorption_Homo sapiens_hsa049750.13744142
101Ovarian steroidogenesis_Homo sapiens_hsa049130.13452625
102Linoleic acid metabolism_Homo sapiens_hsa005910.12661566
103Salivary secretion_Homo sapiens_hsa049700.12361884
104Fatty acid elongation_Homo sapiens_hsa000620.12290949
105Acute myeloid leukemia_Homo sapiens_hsa052210.12278525
106Long-term potentiation_Homo sapiens_hsa047200.10288474
107Bile secretion_Homo sapiens_hsa049760.10250595
108Glioma_Homo sapiens_hsa052140.09618540
109Circadian entrainment_Homo sapiens_hsa047130.09554842
110Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.09216996
111Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.09061794
112Basal cell carcinoma_Homo sapiens_hsa052170.08739301
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.06344749
114Toxoplasmosis_Homo sapiens_hsa051450.03030189
115Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.02940312
116Tyrosine metabolism_Homo sapiens_hsa003500.02595513

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