TNNC2

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: Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)9.66165980
2skeletal muscle fiber development (GO:0048741)8.64273935
3plasma membrane repair (GO:0001778)7.97643781
4* actin filament-based movement (GO:0030048)7.97430403
5myotube cell development (GO:0014904)7.38145882
6positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.60238191
7skeletal muscle tissue regeneration (GO:0043403)6.59076291
8sarcomere organization (GO:0045214)6.47356003
9* striated muscle contraction (GO:0006941)6.45577712
10response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.29396368
11creatine metabolic process (GO:0006600)6.26273403
12glycogen catabolic process (GO:0005980)6.22593682
13pyrimidine ribonucleoside catabolic process (GO:0046133)6.06428332
14cytidine catabolic process (GO:0006216)5.89675395
15cytidine deamination (GO:0009972)5.89675395
16cytidine metabolic process (GO:0046087)5.89675395
17glucan catabolic process (GO:0009251)5.82777660
18myofibril assembly (GO:0030239)5.80123700
19striated muscle atrophy (GO:0014891)5.71390200
20* muscle contraction (GO:0006936)5.62446559
21purine nucleotide salvage (GO:0032261)5.59796255
22response to muscle activity (GO:0014850)5.52302129
23regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.51953220
24response to inactivity (GO:0014854)5.48468314
25carnitine shuttle (GO:0006853)5.44160164
26cellular polysaccharide catabolic process (GO:0044247)5.41526340
27regulation of cell communication by electrical coupling (GO:0010649)5.40249755
28regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.32285542
29polysaccharide catabolic process (GO:0000272)5.25915215
30muscle fiber development (GO:0048747)5.14398297
31striated muscle adaptation (GO:0014888)5.08121608
32negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.04787389
33* muscle system process (GO:0003012)4.99058146
34glycogen biosynthetic process (GO:0005978)4.95398578
35glucan biosynthetic process (GO:0009250)4.95398578
36muscle atrophy (GO:0014889)4.94064955
37positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.89353476
38IMP metabolic process (GO:0046040)4.66433716
39actomyosin structure organization (GO:0031032)4.63136339
40fatty acid transmembrane transport (GO:1902001)4.61616457
41NADH metabolic process (GO:0006734)4.54516033
42regulation of actin filament-based movement (GO:1903115)4.45461834
43regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.41960993
44regulation of skeletal muscle cell differentiation (GO:2001014)4.39126888
45negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.37711622
46cardiac muscle hypertrophy (GO:0003300)4.33439493
47glycogen metabolic process (GO:0005977)4.27124561
48negative regulation of muscle hypertrophy (GO:0014741)4.20589721
49glucan metabolic process (GO:0044042)4.18528074
50cellular glucan metabolic process (GO:0006073)4.18528074
51striated muscle hypertrophy (GO:0014897)4.13401199
52regulation of relaxation of muscle (GO:1901077)4.12082938
53muscle adaptation (GO:0043500)4.10776475
54muscle cell cellular homeostasis (GO:0046716)4.08071742
55muscle organ development (GO:0007517)4.03654472
56carnitine transmembrane transport (GO:1902603)4.03269859
57regulation of acyl-CoA biosynthetic process (GO:0050812)4.01550500
58fructose metabolic process (GO:0006000)3.99387627
59muscle structure development (GO:0061061)3.97825566
60muscle organ morphogenesis (GO:0048644)3.88870332
61negative regulation of potassium ion transmembrane transport (GO:1901380)3.86551454
62cardiac muscle contraction (GO:0060048)3.83868857
63response to activity (GO:0014823)3.83551022
64regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.82708238
65striated muscle cell development (GO:0055002)3.81500695
66myotube differentiation (GO:0014902)3.81182384
67skeletal muscle tissue development (GO:0007519)3.79032613
68negative regulation of skeletal muscle tissue development (GO:0048642)3.78359518
69positive regulation of myotube differentiation (GO:0010831)3.77523252
70muscle tissue morphogenesis (GO:0060415)3.75001728
71gluconeogenesis (GO:0006094)3.72824777
72muscle hypertrophy (GO:0014896)3.72247305
73neuronal action potential propagation (GO:0019227)3.69597702
74myoblast fusion (GO:0007520)3.69216166
75amino-acid betaine transport (GO:0015838)3.67505458
76carnitine transport (GO:0015879)3.67505458
772-oxoglutarate metabolic process (GO:0006103)3.66771067
78neuromuscular synaptic transmission (GO:0007274)3.65542590
79regulation of coenzyme metabolic process (GO:0051196)3.61633709
80regulation of cofactor metabolic process (GO:0051193)3.61633709
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.60573893
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.60573893
83regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.59876531
84negative regulation of protein localization to cell surface (GO:2000009)3.59471356
85striated muscle tissue development (GO:0014706)3.58894387
86IMP biosynthetic process (GO:0006188)3.50812051
87cardiac muscle cell development (GO:0055013)3.49977940
88cellular response to dexamethasone stimulus (GO:0071549)3.47579557
89cardiac muscle tissue morphogenesis (GO:0055008)3.47144332
90negative regulation of muscle contraction (GO:0045932)3.43129090
91regulation of calcium ion transmembrane transporter activity (GO:1901019)3.42879591
92regulation of calcium ion transmembrane transport (GO:1903169)3.42879591
93cellular carbohydrate catabolic process (GO:0044275)3.38883495
94adult heart development (GO:0007512)3.36449589
95regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.36124657
96regulation of sarcomere organization (GO:0060297)3.34877578
97syncytium formation (GO:0006949)3.34082128
98hexose biosynthetic process (GO:0019319)3.32446989
99regulation of myotube differentiation (GO:0010830)3.32168699
100tricarboxylic acid cycle (GO:0006099)3.31076973
101syncytium formation by plasma membrane fusion (GO:0000768)3.31076271
102negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.28817929
103regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.27827324
104regulation of striated muscle contraction (GO:0006942)3.27450916
105muscle cell development (GO:0055001)3.26114233
106cardiac cell development (GO:0055006)3.24450096
107response to dexamethasone (GO:0071548)3.23430689
108regulation of skeletal muscle fiber development (GO:0048742)3.19316594
109positive regulation of myoblast differentiation (GO:0045663)3.18961075
110cardiac muscle adaptation (GO:0014887)3.18887485
111cardiac muscle hypertrophy in response to stress (GO:0014898)3.18887485
112muscle hypertrophy in response to stress (GO:0003299)3.18887485
113muscle cell fate commitment (GO:0042693)3.18531942
114regulation of myoblast differentiation (GO:0045661)3.14146558
115neuromuscular junction development (GO:0007528)3.12400110
116cardiac myofibril assembly (GO:0055003)3.08770757
117negative regulation of cAMP-mediated signaling (GO:0043951)3.02640652
118keratinization (GO:0031424)3.02029334
119cellular polysaccharide metabolic process (GO:0044264)3.00497721
120cellular polysaccharide biosynthetic process (GO:0033692)2.96866918
121positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.96073062
122regulation of sulfur metabolic process (GO:0042762)2.95724973
123* muscle filament sliding (GO:0030049)13.1231024
124* actin-myosin filament sliding (GO:0033275)13.1231024
125regulation of skeletal muscle contraction (GO:0014819)12.7521876
126sarcoplasmic reticulum calcium ion transport (GO:0070296)10.7164196
127* actin-mediated cell contraction (GO:0070252)10.7004021
128* skeletal muscle contraction (GO:0003009)10.6873364

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.85219199
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.50368433
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.40806114
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.34277467
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.34034651
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.18470762
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.11438164
8ZNF263_19887448_ChIP-Seq_K562_Human2.60993053
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.56523110
10ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.36806666
11TBX20_22080862_ChIP-Seq_HEART_Mouse2.36055676
12TBX20_22328084_ChIP-Seq_HEART_Mouse2.36055676
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.27210071
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.17385603
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.11103814
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.10502998
17BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.10296827
18PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.96413094
19AR_21572438_ChIP-Seq_LNCaP_Human1.90182828
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.84980183
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.79166745
22CTCF_27219007_Chip-Seq_Bcells_Human1.78316997
23CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.77723654
24P63_26484246_Chip-Seq_KERATINOCYTES_Human1.72123990
25MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.69814573
26* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.63851920
27CLOCK_20551151_ChIP-Seq_293T_Human1.61201456
28CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.59487975
29* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57554486
30* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.55617242
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.48160053
32PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.47301940
33NFIB_24661679_ChIP-Seq_LUNG_Mouse1.47067792
34DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46698621
35SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.46095062
36ZNF274_21170338_ChIP-Seq_K562_Hela1.44777927
37EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.43260923
38TRIM28_21343339_ChIP-Seq_HEK293_Human1.39835734
39FOXH1_21741376_ChIP-Seq_ESCs_Human1.37548457
40SA1_27219007_Chip-Seq_Bcells_Human1.34858861
41ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.32995070
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.32710158
43IGF1R_20145208_ChIP-Seq_DFB_Human1.31459071
44KDM2B_26808549_Chip-Seq_DND41_Human1.29225616
45RACK7_27058665_Chip-Seq_MCF-7_Human1.28838181
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.28309117
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27870790
48NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.27728125
49EP300_21415370_ChIP-Seq_HL-1_Mouse1.26950960
50YY1_22570637_ChIP-Seq_MALME-3M_Human1.25696195
51CTCF_21964334_Chip-Seq_Bcells_Human1.23860957
52UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.23284864
53SMC1_22415368_ChIP-Seq_MEFs_Mouse1.23115903
54PPARA_22158963_ChIP-Seq_LIVER_Mouse1.22023794
55SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.20753046
56LXR_22292898_ChIP-Seq_THP-1_Human1.20212046
57ZFP281_18757296_ChIP-ChIP_E14_Mouse1.18355480
58LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.16911621
59OCT4_20526341_ChIP-Seq_ESCs_Human1.16334894
60CRX_20693478_ChIP-Seq_RETINA_Mouse1.14002765
61STAT6_21828071_ChIP-Seq_BEAS2B_Human1.13632389
62SMC3_22415368_ChIP-Seq_MEFs_Mouse1.11995549
63STAT1_20625510_ChIP-Seq_HELA_Human1.11426755
64SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.11408856
65CTCF_27219007_Chip-Seq_ERYTHROID_Human1.10647839
66SUZ12_27294783_Chip-Seq_NPCs_Mouse1.09859513
67TDRD3_21172665_ChIP-Seq_MCF-7_Human1.08639903
68CJUN_26792858_Chip-Seq_BT549_Human1.07182678
69KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.06894333
70TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06671845
71P68_20966046_ChIP-Seq_HELA_Human1.06567786
72ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.06436086
73CREB1_26743006_Chip-Seq_LNCaP_Human1.06096608
74ATF3_27146783_Chip-Seq_COLON_Human1.05988287
75TP53_20018659_ChIP-ChIP_R1E_Mouse1.04476267
76RARB_27405468_Chip-Seq_BRAIN_Mouse1.04288729
77ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.03791561
78NANOG_20526341_ChIP-Seq_ESCs_Human1.03452754
79STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.03320328
80E2F1_20622854_ChIP-Seq_HELA_Human1.03075924
81ELF1_20517297_ChIP-Seq_JURKAT_Human1.02943682
82P300_27058665_Chip-Seq_ZR-75-30cells_Human1.02644484
83TP63_22573176_ChIP-Seq_HFKS_Human1.02538426
84DROSHA_22980978_ChIP-Seq_HELA_Human1.02500152
85CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01770265
86RAC3_21632823_ChIP-Seq_H3396_Human1.01652158
87CEBPB_22108803_ChIP-Seq_LS180_Human1.01205205
88CBX2_27304074_Chip-Seq_ESCs_Mouse0.99799068
89HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99468102
90KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99331012
91EZH2_27294783_Chip-Seq_NPCs_Mouse0.99291466
92OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98838122
93ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.97997084
94NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.97920835
95EZH2_27294783_Chip-Seq_ESCs_Mouse0.97101666
96TCF7_22412390_ChIP-Seq_EML_Mouse0.96345599
97CBP_20019798_ChIP-Seq_JUKART_Human0.96215179
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96215179
99BCL6_27268052_Chip-Seq_Bcells_Human0.96133160
100EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.96005601
101NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95176646
102WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95079747
103MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94541724
104P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.94136123
105KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93034313
106ELK3_25401928_ChIP-Seq_HUVEC_Human0.92850800
107GATA6_21074721_ChIP-Seq_CACO-2_Human0.92551379
108RXR_22158963_ChIP-Seq_LIVER_Mouse0.92542789
109PCGF2_27294783_Chip-Seq_ESCs_Mouse0.92329742
110MYC_27129775_Chip-Seq_CORNEA_Mouse0.90449286
111CTCF_26484167_Chip-Seq_Bcells_Mouse0.89508587
112PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.89306520
113GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.88900020
114GATA1_22025678_ChIP-Seq_K562_Human0.88777460
115P53_22127205_ChIP-Seq_FIBROBLAST_Human0.88329915
116GATA1_19941827_ChIP-Seq_MEL_Mouse0.88133162
117SPI1_20517297_ChIP-Seq_HL60_Human0.88124637
118GATA4_21415370_ChIP-Seq_HL-1_Mouse0.87736585
119SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86386971
120FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.86021207
121LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.85909976
122EZH2_22144423_ChIP-Seq_EOC_Human0.83899969
123LXR_22158963_ChIP-Seq_LIVER_Mouse0.83738557
124OCT1_27270436_Chip-Seq_PROSTATE_Human0.83352110
125MTF2_20144788_ChIP-Seq_MESCs_Mouse0.83284918
126ESR1_15608294_ChIP-ChIP_MCF-7_Human0.82821987
127SOX9_24532713_ChIP-Seq_HFSC_Mouse0.82456657
128FLI1_27457419_Chip-Seq_LIVER_Mouse0.81406688
129RAD21_21589869_ChIP-Seq_MESCs_Mouse0.80657960
130NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.78960911
131NRF2_20460467_ChIP-Seq_MEFs_Mouse0.78960911
132HTT_18923047_ChIP-ChIP_STHdh_Human0.78260644
133EGR1_19032775_ChIP-ChIP_M12_Human0.75251927
134ERG_21242973_ChIP-ChIP_JURKAT_Human0.74682017
135SOX2_21211035_ChIP-Seq_LN229_Gbm0.74079584
136DPY_21335234_ChIP-Seq_ESCs_Mouse0.72211686
137STAT3_1855785_ChIP-Seq_MESCs_Mouse0.71028126
138GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.70483336
139JARID2_20075857_ChIP-Seq_MESCs_Mouse0.69721537
140EZH2_18974828_ChIP-Seq_MESCs_Mouse0.69375652
141RNF2_18974828_ChIP-Seq_MESCs_Mouse0.69375652

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.75362791
2MP0000749_muscle_degeneration6.49880626
3MP0003646_muscle_fatigue5.87127412
4MP0000751_myopathy5.80103084
5MP0000747_muscle_weakness4.65035322
6MP0002106_abnormal_muscle_physiology4.22826824
7MP0000759_abnormal_skeletal_muscle3.86131767
8MP0004036_abnormal_muscle_relaxation3.85853005
9MP0005369_muscle_phenotype3.55242900
10MP0002269_muscular_atrophy3.46980908
11MP0004087_abnormal_muscle_fiber3.44985663
12MP0002837_dystrophic_cardiac_calcinosis3.44757252
13MP0000750_abnormal_muscle_regeneration3.33941239
14MP0004130_abnormal_muscle_cell3.12850956
15MP0005620_abnormal_muscle_contractility3.09024181
16MP0000733_abnormal_muscle_development2.59319382
17MP0004233_abnormal_muscle_weight2.47012383
18MP0002108_abnormal_muscle_morphology2.17792372
19MP0002332_abnormal_exercise_endurance2.14355145
20MP0005275_abnormal_skin_tensile1.93616793
21MP0005330_cardiomyopathy1.89521286
22MP0004185_abnormal_adipocyte_glucose1.81096377
23MP0006036_abnormal_mitochondrial_physio1.73707269
24MP0004084_abnormal_cardiac_muscle1.60929167
25MP0004270_analgesia1.47566615
26MP0002971_abnormal_brown_adipose1.44837242
27MP0005666_abnormal_adipose_tissue1.42373108
28MP0003705_abnormal_hypodermis_morpholog1.28733456
29MP0002972_abnormal_cardiac_muscle1.26927726
30MP0004215_abnormal_myocardial_fiber1.25890391
31MP0004484_altered_response_of1.25246270
32MP0000013_abnormal_adipose_tissue1.24829640
33MP0003950_abnormal_plasma_membrane1.23355527
34MP0010630_abnormal_cardiac_muscle1.16860102
35MP0005375_adipose_tissue_phenotype1.10941216
36MP0002822_catalepsy1.10689599
37MP0002796_impaired_skin_barrier1.02571302
38MP0003221_abnormal_cardiomyocyte_apopto1.01343537
39MP0003806_abnormal_nucleotide_metabolis0.98051348
40MP0002234_abnormal_pharynx_morphology0.97283944
41MP0005266_abnormal_metabolism0.96515371
42MP0001661_extended_life_span0.96343932
43MP0004134_abnormal_chest_morphology0.92064029
44MP0000762_abnormal_tongue_morphology0.88072089
45MP0006035_abnormal_mitochondrial_morpho0.82285606
46MP0001544_abnormal_cardiovascular_syste0.80252269
47MP0005385_cardiovascular_system_phenoty0.80252269
48MP0009250_abnormal_appendicular_skeleto0.75329596
49MP0001299_abnormal_eye_distance/0.74432265
50MP0005503_abnormal_tendon_morphology0.71499098
51MP0000579_abnormal_nail_morphology0.71377798
52MP0003828_pulmonary_edema0.71149694
53MP0000372_irregular_coat_pigmentation0.71041553
54MP0009780_abnormal_chondrocyte_physiolo0.70747002
55MP0008961_abnormal_basal_metabolism0.67160854
56MP0000003_abnormal_adipose_tissue0.67155580
57MP0003656_abnormal_erythrocyte_physiolo0.66587325
58MP0004147_increased_porphyrin_level0.63528145
59MP0010030_abnormal_orbit_morphology0.63175564
60MP0004085_abnormal_heartbeat0.62472690
61MP0008438_abnormal_cutaneous_collagen0.60586859
62MP0003137_abnormal_impulse_conducting0.60322597
63MP0003879_abnormal_hair_cell0.58684299
64MP0001243_abnormal_dermal_layer0.55186207
65MP0005334_abnormal_fat_pad0.54826129
66MP0005501_abnormal_skin_physiology0.52866160
67MP0002078_abnormal_glucose_homeostasis0.52501509
68MP0005670_abnormal_white_adipose0.52480351
69MP0000383_abnormal_hair_follicle0.51700799
70MP0004043_abnormal_pH_regulation0.51233388
71MP0000343_altered_response_to0.50952367
72MP0002896_abnormal_bone_mineralization0.49402488
73MP0003045_fibrosis0.48911811
74MP0000266_abnormal_heart_morphology0.48235066
75MP0002127_abnormal_cardiovascular_syste0.44995374
76MP0002060_abnormal_skin_morphology0.44814053
77MP0008775_abnormal_heart_ventricle0.44260581
78MP0005452_abnormal_adipose_tissue0.44029925
79MP0008569_lethality_at_weaning0.43408031
80MP0009672_abnormal_birth_weight0.42578664
81MP0002089_abnormal_postnatal_growth/wei0.41594878
82MP0001346_abnormal_lacrimal_gland0.41263551
83MP0002734_abnormal_mechanical_nocicepti0.41201376
84MP0003959_abnormal_lean_body0.38787566
85MP0001849_ear_inflammation0.38301477
86MP0002114_abnormal_axial_skeleton0.37791869
87MP0002128_abnormal_blood_circulation0.36803767
88MP0006138_congestive_heart_failure0.36658964
89MP0000427_abnormal_hair_cycle0.35907543
90MP0005584_abnormal_enzyme/coenzyme_acti0.35726664
91MP0002249_abnormal_larynx_morphology0.35660922
92MP0005083_abnormal_biliary_tract0.34758353
93MP0005167_abnormal_blood-brain_barrier0.34047193
94MP0002638_abnormal_pupillary_reflex0.33473738
95MP0010678_abnormal_skin_adnexa0.32532840
96MP0005376_homeostasis/metabolism_phenot0.32212104
97MP0009115_abnormal_fat_cell0.30843417
98MP0005535_abnormal_body_temperature0.30342313
99MP0003948_abnormal_gas_homeostasis0.30300420
100MP0005319_abnormal_enzyme/_coenzyme0.29711915
101MP0000377_abnormal_hair_follicle0.29620699
102MP0004510_myositis0.29563749
103MP0005451_abnormal_body_composition0.27613266
104MP0006276_abnormal_autonomic_nervous0.26314573
105MP0005165_increased_susceptibility_to0.26010073
106MP0009931_abnormal_skin_appearance0.24620408
107MP0010771_integument_phenotype0.24079307
108MP0005423_abnormal_somatic_nervous0.23777040
109MP0000467_abnormal_esophagus_morphology0.23710382
110MP0001943_abnormal_respiration0.22899610
111MP0003385_abnormal_body_wall0.22455452
112MP0004142_abnormal_muscle_tone0.22264268
113MP0000647_abnormal_sebaceous_gland0.21948689
114MP0000230_abnormal_systemic_arterial0.21862351
115MP0005166_decreased_susceptibility_to0.21820237
116MP0003755_abnormal_palate_morphology0.21391852
117MP0010234_abnormal_vibrissa_follicle0.21023627
118MP0008770_decreased_survivor_rate0.20441108
119MP0005187_abnormal_penis_morphology0.20315688
120MP0002066_abnormal_motor_capabilities/c0.19464023
121MP0005332_abnormal_amino_acid0.18302093
122MP0004197_abnormal_fetal_growth/weight/0.16037772
123MP0000534_abnormal_ureter_morphology0.14236004
124MP0004858_abnormal_nervous_system0.13859023

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.85599421
2Nemaline bodies (HP:0003798)9.46785882
3Exercise-induced myalgia (HP:0003738)8.22786461
4Distal arthrogryposis (HP:0005684)8.18007846
5Type 1 muscle fiber predominance (HP:0003803)7.92823974
6Exercise-induced muscle cramps (HP:0003710)7.37705209
7Myopathic facies (HP:0002058)6.89212812
8Round ear (HP:0100830)6.67863842
9Ulnar deviation of the wrist (HP:0003049)6.53558467
10Muscle hypertrophy of the lower extremities (HP:0008968)6.33072966
11Calf muscle hypertrophy (HP:0008981)5.69835522
12Calcaneovalgus deformity (HP:0001848)5.68155088
13Deformed tarsal bones (HP:0008119)5.36813587
14Difficulty running (HP:0009046)5.17112137
15Absent phalangeal crease (HP:0006109)5.16962673
16Muscle fiber splitting (HP:0003555)5.11277519
17Hyporeflexia of lower limbs (HP:0002600)4.80346810
18Myoglobinuria (HP:0002913)4.77334661
19EMG: myopathic abnormalities (HP:0003458)4.46863792
20Increased connective tissue (HP:0009025)4.40905375
21Muscle stiffness (HP:0003552)4.35076395
22Abnormal finger flexion creases (HP:0006143)4.32676626
23Abnormality of skeletal muscle fiber size (HP:0012084)4.02484490
24Rhabdomyolysis (HP:0003201)3.97853014
25Abnormality of the calf musculature (HP:0001430)3.97525843
26Myotonia (HP:0002486)3.83592450
27Neck muscle weakness (HP:0000467)3.69181870
28Malignant hyperthermia (HP:0002047)3.66131658
29Increased variability in muscle fiber diameter (HP:0003557)3.53197920
30Abnormality of the calcaneus (HP:0008364)3.45517057
31Frequent falls (HP:0002359)3.43170981
32Rimmed vacuoles (HP:0003805)3.40281529
33Difficulty climbing stairs (HP:0003551)3.26358687
34Abnormality of the left ventricular outflow tract (HP:0011103)3.26150456
35Subaortic stenosis (HP:0001682)3.26150456
36Popliteal pterygium (HP:0009756)3.11846847
37Areflexia of lower limbs (HP:0002522)3.04579211
38Slender build (HP:0001533)3.03061462
39Shoulder girdle muscle weakness (HP:0003547)3.01162931
40Pelvic girdle muscle weakness (HP:0003749)3.01090055
41Abnormality of the hip-girdle musculature (HP:0001445)2.90726106
42Abnormality of the musculature of the pelvis (HP:0001469)2.90726106
43Abnormality of the neuromuscular junction (HP:0003398)2.76278097
44Fatigable weakness (HP:0003473)2.76278097
45Hyperkalemia (HP:0002153)2.69627206
46Asymmetric septal hypertrophy (HP:0001670)2.62187296
47Mildly elevated creatine phosphokinase (HP:0008180)2.57535374
48EMG: neuropathic changes (HP:0003445)2.55875900
49Distal lower limb muscle weakness (HP:0009053)2.54836636
50Bundle branch block (HP:0011710)2.54779541
51Sudden death (HP:0001699)2.52342542
52Bulbar palsy (HP:0001283)2.46873716
53Spinal rigidity (HP:0003306)2.41920505
54Fetal akinesia sequence (HP:0001989)2.40168645
55Metatarsus adductus (HP:0001840)2.38299671
56Paralysis (HP:0003470)2.37108897
57Generalized muscle weakness (HP:0003324)2.34859515
58Abnormality of placental membranes (HP:0011409)2.32762163
59Amniotic constriction ring (HP:0009775)2.32762163
60Centrally nucleated skeletal muscle fibers (HP:0003687)2.29171656
61Ulnar deviation of finger (HP:0009465)2.28828995
62Facial diplegia (HP:0001349)2.25938612
63Muscular dystrophy (HP:0003560)2.25485580
64Muscle fiber atrophy (HP:0100295)2.23300148
65Gowers sign (HP:0003391)2.21014962
66Scapular winging (HP:0003691)2.19662295
67Weak cry (HP:0001612)2.16309190
68Proximal amyotrophy (HP:0007126)2.13882385
69Limb-girdle muscle weakness (HP:0003325)2.10864549
70Nonprogressive disorder (HP:0003680)2.09431941
71Hypoplastic ischia (HP:0003175)2.09133521
72Abnormality of the shoulder girdle musculature (HP:0001435)2.07331635
73Muscle fiber inclusion bodies (HP:0100299)10.1844059
74Limb-girdle muscle atrophy (HP:0003797)1.99270942
75Distal lower limb amyotrophy (HP:0008944)1.96976732
76Waddling gait (HP:0002515)1.89117707
77Progressive muscle weakness (HP:0003323)1.87681273
78Tarsal synostosis (HP:0008368)1.86791463
79Hip contracture (HP:0003273)1.83362318
80Abnormality of the ischium (HP:0003174)1.82440819
81Achilles tendon contracture (HP:0001771)1.79155266
82Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.78995828
83Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.78536709
84Aplasia of the musculature (HP:0100854)1.77583829
85Abnormality of the foot musculature (HP:0001436)1.74935063
86Breech presentation (HP:0001623)1.72644045
87Synostosis involving bones of the lower limbs (HP:0009138)1.67999143
88Synostosis involving bones of the feet (HP:0009140)1.67999143
89Limited hip movement (HP:0008800)1.66471150
90Heart block (HP:0012722)1.64596675
91Respiratory insufficiency due to muscle weakness (HP:0002747)1.64232198
92Abnormality of the Achilles tendon (HP:0005109)1.62468800
93Adducted thumb (HP:0001181)1.61035978
94Easy fatigability (HP:0003388)1.60935418
95Exercise intolerance (HP:0003546)1.58740393
96Ventricular tachycardia (HP:0004756)1.57233930
97Abnormal atrioventricular conduction (HP:0005150)1.55663275
98Increased density of long bones (HP:0006392)1.54303171
99Long clavicles (HP:0000890)1.52258170
100Short palpebral fissure (HP:0012745)1.52007156
101Congenital hip dislocation (HP:0001374)1.51533066
102Cholelithiasis (HP:0001081)1.46661010
103Type 2 muscle fiber atrophy (HP:0003554)1.46105377
104Lower limb amyotrophy (HP:0007210)1.44570008
105Ragged-red muscle fibers (HP:0003200)1.41469361
106Mesomelia (HP:0003027)1.40396637
107Stridor (HP:0010307)1.39162371
108Foot dorsiflexor weakness (HP:0009027)1.38457531
109Webbed neck (HP:0000465)1.37893320
110Ventricular arrhythmia (HP:0004308)1.37557546
111Abnormality of potassium homeostasis (HP:0011042)1.37485308
112Thin ribs (HP:0000883)1.36629053
113Increased purine levels (HP:0004368)1.35095201
114Hyperuricemia (HP:0002149)1.35095201
115Dilated cardiomyopathy (HP:0001644)1.33963460
116Lipoatrophy (HP:0100578)1.33488267
117Fibular aplasia (HP:0002990)1.33347800

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.85003339
2TTN6.28289991
3PHKG15.28210764
4PHKG25.28210764
5PIK3CG4.38747610
6NME14.20747662
7MAP2K32.85944953
8NEK12.27813789
9TRIB32.17454119
10MAP3K72.07138653
11PINK11.96506510
12PDK41.82196910
13PDK31.82196910
14DMPK1.73806223
15MAPK121.59714743
16PIK3CA1.56019873
17MAP2K41.53188954
18MUSK1.48133876
19MAP2K61.40014967
20BCKDK1.36616463
21PDK21.20415363
22CCNB11.19595598
23MAPKAPK31.14826290
24MAP3K31.07493863
25MARK10.94644598
26MAP3K130.81942778
27NEK90.79192628
28PRKAA20.77977254
29PRKAA10.73614906
30TRPM70.69947773
31PKN20.69944796
32TAOK20.69102398
33ERBB30.66508801
34EPHB10.64540387
35TAOK10.64392046
36MAPK110.63471334
37SIK10.63154982
38AKT20.61505658
39MAP3K110.59677484
40RIPK10.58926111
41CAMK2G0.57890032
42STK240.57835780
43ZAK0.54264996
44LIMK10.52535072
45ILK0.52153837
46CAMK40.51575711
47ARAF0.45021007
48EEF2K0.43565420
49PTK60.43320348
50CAMK2A0.40931186
51CAMK10.36081441
52CAMK2B0.35932697
53ERN10.34951190
54KSR20.32757654
55SGK10.32735914
56CDK190.32553712
57MAP3K60.31738097
58MAPK130.31288027
59LATS10.30308694
60MAP3K10.29497473
61MAP2K10.28535805
62PRKG10.28315724
63MOS0.28268729
64MAP3K50.28208837
65RPS6KB10.27384735
66PRKACB0.25718155
67ROCK10.25196701
68SGK20.24879392
69MAP3K100.24050280
70TBK10.23324483
71RPS6KA30.22970799
72MAPK40.21571203
73PKN10.21246922
74LATS20.21167610
75MAP3K90.20311816
76MAPK70.19605293
77FER0.19126852
78MST1R0.18878126
79PDPK10.17585644
80TIE10.17573177
81PRKACA0.17527204
82MARK20.17441056
83DDR20.17321899
84LRRK20.17094731
85RAF10.16795491
86PRKD10.16736886
87TGFBR20.16026120
88DAPK20.15688965
89DYRK1B0.15446900
90PRPF4B0.12414115
91BRAF0.12338504
92PDK10.11613162
93CAMK1G0.11534887
94TYK20.11383951
95FGFR10.10791113
96PAK60.10656534
97BMX0.09990458
98ICK0.09442255
99RPS6KB20.09396554
100ROCK20.08530829
101INSRR0.08132607
102RPS6KC10.07155143
103RPS6KL10.07155143
104RPS6KA10.07095310
105MTOR0.06750791
106SGK2230.06711383
107SGK4940.06711383
108NLK0.06275448
109ZAP700.05851275
110PRKG20.04773777
111PDGFRA0.04665672
112GSK3A0.04569530
113RPS6KA60.03256527
114JAK20.03236907
115FGFR30.03101801
116MAPK100.02969017
117PRKACG0.02403931
118MAPK80.02338123
119CSNK1D0.02089012
120PAK10.01903860
121TNK20.01887644
122MARK30.01802600
123RET0.01693636
124SGK30.01556228
125CAMK2D0.01282923
126PTK2B0.01100064
127KSR1-0.0187560
128FGFR4-0.0172094
129STK11-0.0115577
130MAPKAPK2-0.0001282

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.31658770
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.05484896
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.90541311
4Cardiac muscle contraction_Homo sapiens_hsa042603.55713462
5Dilated cardiomyopathy_Homo sapiens_hsa054143.51965116
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.15250692
7Starch and sucrose metabolism_Homo sapiens_hsa005002.97937161
8Glucagon signaling pathway_Homo sapiens_hsa049222.34323833
9Insulin signaling pathway_Homo sapiens_hsa049102.29332549
10Oxytocin signaling pathway_Homo sapiens_hsa049212.28286668
11Circadian rhythm_Homo sapiens_hsa047102.15363795
12Insulin resistance_Homo sapiens_hsa049312.12077191
13Propanoate metabolism_Homo sapiens_hsa006402.12051070
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.11741299
15Carbon metabolism_Homo sapiens_hsa012002.07208178
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.95474257
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.80534567
18Adipocytokine signaling pathway_Homo sapiens_hsa049201.77076080
19AMPK signaling pathway_Homo sapiens_hsa041521.68381838
20Galactose metabolism_Homo sapiens_hsa000521.65387499
21Tight junction_Homo sapiens_hsa045301.59395009
22Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.51145661
23Alzheimers disease_Homo sapiens_hsa050101.49444463
24Parkinsons disease_Homo sapiens_hsa050121.47928791
25Fructose and mannose metabolism_Homo sapiens_hsa000511.45432814
26Biosynthesis of amino acids_Homo sapiens_hsa012301.44714543
27* Calcium signaling pathway_Homo sapiens_hsa040201.38823386
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37393160
29Viral myocarditis_Homo sapiens_hsa054161.35471029
30Fatty acid degradation_Homo sapiens_hsa000711.33028392
31Pyruvate metabolism_Homo sapiens_hsa006201.28292432
32Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27996071
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.26269786
34Focal adhesion_Homo sapiens_hsa045101.24319179
35Vascular smooth muscle contraction_Homo sapiens_hsa042701.20046724
36Oxidative phosphorylation_Homo sapiens_hsa001901.17153766
37Arginine and proline metabolism_Homo sapiens_hsa003301.16289077
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.15783576
39Gastric acid secretion_Homo sapiens_hsa049711.09179051
40GnRH signaling pathway_Homo sapiens_hsa049121.06447518
41Pentose phosphate pathway_Homo sapiens_hsa000301.04881961
42Central carbon metabolism in cancer_Homo sapiens_hsa052301.00075751
43Fatty acid metabolism_Homo sapiens_hsa012120.94916550
44FoxO signaling pathway_Homo sapiens_hsa040680.89920093
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.89263572
46VEGF signaling pathway_Homo sapiens_hsa043700.86910476
47Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.86527777
48Longevity regulating pathway - mammal_Homo sapiens_hsa042110.82564795
49HIF-1 signaling pathway_Homo sapiens_hsa040660.79077091
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75244884
51mTOR signaling pathway_Homo sapiens_hsa041500.74941282
52Renin secretion_Homo sapiens_hsa049240.74483745
53Arginine biosynthesis_Homo sapiens_hsa002200.72058461
54Fatty acid biosynthesis_Homo sapiens_hsa000610.68943785
55MAPK signaling pathway_Homo sapiens_hsa040100.68722796
56Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.66287547
57Platelet activation_Homo sapiens_hsa046110.62295279
58PPAR signaling pathway_Homo sapiens_hsa033200.60683939
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.58525976
60Amoebiasis_Homo sapiens_hsa051460.58133290
61Proteoglycans in cancer_Homo sapiens_hsa052050.56830901
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55996348
63Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52556120
64Adherens junction_Homo sapiens_hsa045200.51836263
65Insulin secretion_Homo sapiens_hsa049110.50659787
66Huntingtons disease_Homo sapiens_hsa050160.48281936
67beta-Alanine metabolism_Homo sapiens_hsa004100.44751442
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42407072
69ECM-receptor interaction_Homo sapiens_hsa045120.39833227
70Long-term depression_Homo sapiens_hsa047300.38927683
71Type II diabetes mellitus_Homo sapiens_hsa049300.37481845
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36212206
73Phenylalanine metabolism_Homo sapiens_hsa003600.36037893
74Renal cell carcinoma_Homo sapiens_hsa052110.35185237
75Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33658739
76Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32240285
77Amphetamine addiction_Homo sapiens_hsa050310.31909043
78Phototransduction_Homo sapiens_hsa047440.29656810
79Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.29606148
80Fat digestion and absorption_Homo sapiens_hsa049750.29098731
81Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.28967610
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.28473197
83alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27070202
84cAMP signaling pathway_Homo sapiens_hsa040240.25693110
85Regulation of autophagy_Homo sapiens_hsa041400.25280848
86Salivary secretion_Homo sapiens_hsa049700.24726355
87Pancreatic secretion_Homo sapiens_hsa049720.24591626
88Peroxisome_Homo sapiens_hsa041460.23989889
89Thyroid cancer_Homo sapiens_hsa052160.23011740
90Melanogenesis_Homo sapiens_hsa049160.21394226
91Tryptophan metabolism_Homo sapiens_hsa003800.20969480
92Linoleic acid metabolism_Homo sapiens_hsa005910.20952334
93Butanoate metabolism_Homo sapiens_hsa006500.20603696
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19959990
95Fatty acid elongation_Homo sapiens_hsa000620.19245622
96Lysine degradation_Homo sapiens_hsa003100.18894783
97Olfactory transduction_Homo sapiens_hsa047400.18501376
98Cholinergic synapse_Homo sapiens_hsa047250.17964524
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.17533544
100Prolactin signaling pathway_Homo sapiens_hsa049170.15879997
101Histidine metabolism_Homo sapiens_hsa003400.15130730
102Nitrogen metabolism_Homo sapiens_hsa009100.14843242
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.14445339
104Bile secretion_Homo sapiens_hsa049760.13295827
105Purine metabolism_Homo sapiens_hsa002300.13075013
106Acute myeloid leukemia_Homo sapiens_hsa052210.12707721
107Oocyte meiosis_Homo sapiens_hsa041140.12370001
108Basal cell carcinoma_Homo sapiens_hsa052170.12152560
109Long-term potentiation_Homo sapiens_hsa047200.11034796
110Glioma_Homo sapiens_hsa052140.10484281
111Circadian entrainment_Homo sapiens_hsa047130.10246940
112Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.10239100
113Tyrosine metabolism_Homo sapiens_hsa003500.08833610
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.08757969
115Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.08679278
116Protein digestion and absorption_Homo sapiens_hsa049740.07852298
117Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.07834219

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