TNNI2

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





Description: This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)9.93612448
2skeletal muscle fiber development (GO:0048741)8.61511071
3* actin filament-based movement (GO:0030048)8.00327040
4plasma membrane repair (GO:0001778)7.86252623
5myotube cell development (GO:0014904)7.35473694
6skeletal muscle tissue regeneration (GO:0043403)6.94794106
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.55602391
8sarcomere organization (GO:0045214)6.47202003
9* striated muscle contraction (GO:0006941)6.47020286
10response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.42222270
11creatine metabolic process (GO:0006600)6.30201478
12glycogen catabolic process (GO:0005980)6.24561098
13pyrimidine ribonucleoside catabolic process (GO:0046133)6.14943371
14cytidine catabolic process (GO:0006216)6.03109697
15cytidine deamination (GO:0009972)6.03109697
16cytidine metabolic process (GO:0046087)6.03109697
17striated muscle atrophy (GO:0014891)5.95316872
18myofibril assembly (GO:0030239)5.84879281
19glucan catabolic process (GO:0009251)5.84442207
20* muscle contraction (GO:0006936)5.63818345
21purine nucleotide salvage (GO:0032261)5.60750117
22response to muscle activity (GO:0014850)5.54805383
23carnitine shuttle (GO:0006853)5.50012698
24response to inactivity (GO:0014854)5.49753709
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.49062939
26cellular polysaccharide catabolic process (GO:0044247)5.43329029
27regulation of cell communication by electrical coupling (GO:0010649)5.43015497
28regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.30028459
29polysaccharide catabolic process (GO:0000272)5.27060918
30striated muscle adaptation (GO:0014888)5.16726474
31muscle atrophy (GO:0014889)5.15244538
32muscle fiber development (GO:0048747)5.12067664
33* muscle system process (GO:0003012)5.00577683
34negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.97778825
35glucan biosynthetic process (GO:0009250)4.95488212
36glycogen biosynthetic process (GO:0005978)4.95488212
37positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.93112183
38NADH metabolic process (GO:0006734)4.70859852
39IMP metabolic process (GO:0046040)4.69785131
40fatty acid transmembrane transport (GO:1902001)4.67530316
41actomyosin structure organization (GO:0031032)4.62619326
42regulation of actin filament-based movement (GO:1903115)4.50530658
43regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.46130300
44negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.43919856
45cardiac muscle hypertrophy (GO:0003300)4.42941810
46regulation of skeletal muscle cell differentiation (GO:2001014)4.36254483
47glycogen metabolic process (GO:0005977)4.29459673
48negative regulation of muscle hypertrophy (GO:0014741)4.24574178
49striated muscle hypertrophy (GO:0014897)4.22499916
50fructose metabolic process (GO:0006000)4.20786458
51glucan metabolic process (GO:0044042)4.20764678
52cellular glucan metabolic process (GO:0006073)4.20764678
53muscle adaptation (GO:0043500)4.19930569
54regulation of relaxation of muscle (GO:1901077)4.15973912
55carnitine transmembrane transport (GO:1902603)4.07194255
56regulation of acyl-CoA biosynthetic process (GO:0050812)4.04317500
57muscle organ development (GO:0007517)4.01608719
58muscle cell cellular homeostasis (GO:0046716)3.98031608
59muscle structure development (GO:0061061)3.95780768
60negative regulation of skeletal muscle tissue development (GO:0048642)3.93389324
61muscle organ morphogenesis (GO:0048644)3.90284119
62response to activity (GO:0014823)3.87732046
632-oxoglutarate metabolic process (GO:0006103)3.87391707
64cardiac muscle contraction (GO:0060048)3.85730857
65gluconeogenesis (GO:0006094)3.85044691
66skeletal muscle tissue development (GO:0007519)3.82859800
67muscle hypertrophy (GO:0014896)3.82750047
68myotube differentiation (GO:0014902)3.81584880
69striated muscle cell development (GO:0055002)3.79891458
70negative regulation of potassium ion transmembrane transport (GO:1901380)3.78670220
71muscle tissue morphogenesis (GO:0060415)3.76227136
72regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.74161812
73carnitine transport (GO:0015879)3.70535863
74amino-acid betaine transport (GO:0015838)3.70535863
75positive regulation of myotube differentiation (GO:0010831)3.68030870
76positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.65850882
77regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.64913686
78regulation of coenzyme metabolic process (GO:0051196)3.63965418
79regulation of cofactor metabolic process (GO:0051193)3.63965418
80cellular response to dexamethasone stimulus (GO:0071549)3.63537386
81myoblast fusion (GO:0007520)3.59556163
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.55427705
83negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.55427705
84neuromuscular synaptic transmission (GO:0007274)3.54509187
85neuronal action potential propagation (GO:0019227)3.54336996
86IMP biosynthetic process (GO:0006188)3.54159174
87striated muscle tissue development (GO:0014706)3.51415778
88cardiac muscle tissue morphogenesis (GO:0055008)3.50424637
89negative regulation of muscle contraction (GO:0045932)3.46141693
90hexose biosynthetic process (GO:0019319)3.44475426
91adult heart development (GO:0007512)3.43548323
92cardiac muscle cell development (GO:0055013)3.42852779
93cellular carbohydrate catabolic process (GO:0044275)3.39789351
94response to dexamethasone (GO:0071548)3.37916068
95regulation of calcium ion transmembrane transporter activity (GO:1901019)3.35881686
96regulation of calcium ion transmembrane transport (GO:1903169)3.35881686
97regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.31652022
98negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.31410707
99tricarboxylic acid cycle (GO:0006099)3.30458552
100regulation of striated muscle contraction (GO:0006942)3.28097496
101syncytium formation (GO:0006949)3.27692823
102regulation of muscle system process (GO:0090257)3.26905852
103regulation of myotube differentiation (GO:0010830)3.26851768
104muscle cell fate commitment (GO:0042693)3.26361663
105regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.25676803
106syncytium formation by plasma membrane fusion (GO:0000768)3.24259017
107muscle cell development (GO:0055001)3.24038952
108cardiac muscle adaptation (GO:0014887)3.23968042
109cardiac muscle hypertrophy in response to stress (GO:0014898)3.23968042
110muscle hypertrophy in response to stress (GO:0003299)3.23968042
111regulation of myoblast differentiation (GO:0045661)3.22108490
112negative regulation of protein localization to cell surface (GO:2000009)3.22077941
113regulation of sarcomere organization (GO:0060297)3.18655216
114positive regulation of myoblast differentiation (GO:0045663)3.17295621
115keratinization (GO:0031424)3.13524649
116cardiac myofibril assembly (GO:0055003)3.11035238
117skeletal muscle cell differentiation (GO:0035914)3.06534079
118neuromuscular junction development (GO:0007528)3.03678267
119cellular polysaccharide metabolic process (GO:0044264)3.02557655
120negative regulation of cAMP-mediated signaling (GO:0043951)3.02432356
121heart process (GO:0003015)3.00019936
122heart contraction (GO:0060047)3.00019936
123* muscle filament sliding (GO:0030049)13.1906913
124* actin-myosin filament sliding (GO:0033275)13.1906913
125regulation of skeletal muscle contraction (GO:0014819)12.6417214
126sarcoplasmic reticulum calcium ion transport (GO:0070296)10.8643422
127* actin-mediated cell contraction (GO:0070252)10.7431594
128* skeletal muscle contraction (GO:0003009)10.6569734

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human8.13453531
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.53730051
3EZH2_22144423_ChIP-Seq_EOC_Human4.46984900
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.60928572
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.38349602
6ESR1_20079471_ChIP-ChIP_T-47D_Human3.36573795
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.21445043
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.05599607
9ZNF263_19887448_ChIP-Seq_K562_Human2.56795253
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.53597404
11TBX20_22328084_ChIP-Seq_HEART_Mouse2.42097337
12TBX20_22080862_ChIP-Seq_HEART_Mouse2.42097337
13ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.30776983
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.26364871
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.19633379
16BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.19386403
17ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.08844857
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.95784002
19AR_21572438_ChIP-Seq_LNCaP_Human1.87279342
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.85589125
21THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.84280221
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.80680208
23CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.79956757
24BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.72767541
25TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.72286736
26MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.69946232
27* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.69210060
28* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.66726207
29* CTCF_27219007_Chip-Seq_Bcells_Human1.61070846
30CLOCK_20551151_ChIP-Seq_293T_Human1.60869833
31CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.56564116
32NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49330090
33EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.48488077
34PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.46986904
35DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46920240
36ZNF274_21170338_ChIP-Seq_K562_Hela1.39536584
37SA1_27219007_Chip-Seq_Bcells_Human1.36400714
38FOXH1_21741376_ChIP-Seq_ESCs_Human1.35985104
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.34425436
40KDM2B_26808549_Chip-Seq_DND41_Human1.33605619
41* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.33585099
42TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32164011
43ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.31662634
44RACK7_27058665_Chip-Seq_MCF-7_Human1.31330567
45RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.28909525
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.26101369
47NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.24513724
48YY1_22570637_ChIP-Seq_MALME-3M_Human1.24108164
49UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.23551386
50PPARA_22158963_ChIP-Seq_LIVER_Mouse1.23089887
51TRIM28_21343339_ChIP-Seq_HEK293_Human1.21990740
52LXR_22292898_ChIP-Seq_THP-1_Human1.21588513
53SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.20706003
54OCT4_20526341_ChIP-Seq_ESCs_Human1.16971741
55* CTCF_21964334_Chip-Seq_Bcells_Human1.16686727
56LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15411465
57STAT1_20625510_ChIP-Seq_HELA_Human1.15223033
58* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.12046723
59SMC3_22415368_ChIP-Seq_MEFs_Mouse1.11159833
60KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.11151624
61ZFP281_18757296_ChIP-ChIP_E14_Mouse1.10510409
62CJUN_26792858_Chip-Seq_BT549_Human1.09049486
63TCF7_22412390_ChIP-Seq_EML_Mouse1.08806758
64TDRD3_21172665_ChIP-Seq_MCF-7_Human1.08749641
65STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.08721677
66IGF1R_20145208_ChIP-Seq_DFB_Human1.07959473
67ATF3_27146783_Chip-Seq_COLON_Human1.07447850
68P68_20966046_ChIP-Seq_HELA_Human1.06728914
69ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.06038585
70TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05491312
71NANOG_20526341_ChIP-Seq_ESCs_Human1.04535809
72RARB_27405468_Chip-Seq_BRAIN_Mouse1.04535032
73CEBPB_22108803_ChIP-Seq_LS180_Human1.04485214
74STAT6_21828071_ChIP-Seq_BEAS2B_Human1.03942462
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.03876460
76HIF1A_21447827_ChIP-Seq_MCF-7_Human1.03535061
77CREB1_26743006_Chip-Seq_LNCaP_Human1.02999953
78ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.02999366
79SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02880984
80CRX_20693478_ChIP-Seq_RETINA_Mouse1.02741072
81RAC3_21632823_ChIP-Seq_H3396_Human1.02707899
82KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.02556763
83NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.02290436
84* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02154193
85P300_27058665_Chip-Seq_ZR-75-30cells_Human1.02024397
86TP63_22573176_ChIP-Seq_HFKS_Human1.01962407
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99493031
88SUZ12_27294783_Chip-Seq_NPCs_Mouse0.98236787
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.97508580
90SPI1_20517297_ChIP-Seq_HL60_Human0.97024602
91CBP_20019798_ChIP-Seq_JUKART_Human0.96461088
92IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.96461088
93P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.96426890
94GATA1_19941827_ChIP-Seq_MEL_Mouse0.96329696
95ELK3_25401928_ChIP-Seq_HUVEC_Human0.96236310
96NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96053831
97DROSHA_22980978_ChIP-Seq_HELA_Human0.94638737
98KDM2B_26808549_Chip-Seq_SUP-B15_Human0.94485000
99GATA6_21074721_ChIP-Seq_CACO-2_Human0.94128507
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.92336143
101GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.92003438
102CSB_26484114_Chip-Seq_FIBROBLAST_Human0.91926970
103CBX2_27304074_Chip-Seq_ESCs_Mouse0.91341094
104GATA4_21415370_ChIP-Seq_HL-1_Mouse0.90922665
105RXR_22158963_ChIP-Seq_LIVER_Mouse0.90798727
106OCT4_21477851_ChIP-Seq_ESCs_Mouse0.90551106
107SA1_27219007_Chip-Seq_ERYTHROID_Human0.90294563
108* E2F1_20622854_ChIP-Seq_HELA_Human0.89718320
109EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.88810870
110FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.88216466
111MYC_27129775_Chip-Seq_CORNEA_Mouse0.87862999
112* BCL6_27268052_Chip-Seq_Bcells_Human0.87639821
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87494558
114LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.87408139
115EZH2_27294783_Chip-Seq_NPCs_Mouse0.87255981
116MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86733879
117PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.84254107
118* CTCF_26484167_Chip-Seq_Bcells_Mouse0.84207205
119SOX9_24532713_ChIP-Seq_HFSC_Mouse0.83775342
120P53_22127205_ChIP-Seq_FIBROBLAST_Human0.83695135
121EZH2_27294783_Chip-Seq_ESCs_Mouse0.83180538
122LXR_22158963_ChIP-Seq_LIVER_Mouse0.82633295
123PCGF2_27294783_Chip-Seq_ESCs_Mouse0.82610804
124OCT1_27270436_Chip-Seq_PROSTATE_Human0.82513787
125NFIB_24661679_ChIP-Seq_LUNG_Mouse0.82501418
126FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.80890092
127* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.80740258
128EGR1_19032775_ChIP-ChIP_M12_Human0.80710820
129ERG_21242973_ChIP-ChIP_JURKAT_Human0.77685953
130RAD21_21589869_ChIP-Seq_MESCs_Mouse0.77526922
131STAT3_1855785_ChIP-Seq_MESCs_Mouse0.75643925
132NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75448190
133NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75448190
134MTF2_20144788_ChIP-Seq_MESCs_Mouse0.73792826
135DPY_21335234_ChIP-Seq_ESCs_Mouse0.72666146
136GATA1_19941827_ChIP-Seq_MEL86_Mouse0.67690170
137FLI1_27457419_Chip-Seq_LIVER_Mouse0.67326486

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.78125519
2MP0000749_muscle_degeneration6.50093420
3MP0003646_muscle_fatigue5.90618188
4MP0000751_myopathy5.76724670
5MP0000747_muscle_weakness4.61859000
6MP0002106_abnormal_muscle_physiology4.24903398
7MP0000759_abnormal_skeletal_muscle3.85964489
8MP0004036_abnormal_muscle_relaxation3.83697015
9MP0005369_muscle_phenotype3.56441540
10MP0002269_muscular_atrophy3.46941429
11MP0004087_abnormal_muscle_fiber3.46243659
12MP0002837_dystrophic_cardiac_calcinosis3.43267174
13MP0000750_abnormal_muscle_regeneration3.29627336
14MP0004130_abnormal_muscle_cell3.20435877
15MP0005620_abnormal_muscle_contractility3.07175970
16MP0000733_abnormal_muscle_development2.61308083
17MP0004233_abnormal_muscle_weight2.44826456
18MP0002108_abnormal_muscle_morphology2.16969114
19MP0002332_abnormal_exercise_endurance2.13155728
20MP0005330_cardiomyopathy1.90124436
21MP0005275_abnormal_skin_tensile1.89375479
22MP0004185_abnormal_adipocyte_glucose1.80270157
23MP0006036_abnormal_mitochondrial_physio1.75228530
24MP0004084_abnormal_cardiac_muscle1.63077039
25MP0002971_abnormal_brown_adipose1.47752009
26MP0005666_abnormal_adipose_tissue1.42130583
27MP0004270_analgesia1.39929588
28MP0000013_abnormal_adipose_tissue1.34695998
29MP0002972_abnormal_cardiac_muscle1.28952801
30MP0003705_abnormal_hypodermis_morpholog1.28836647
31MP0004484_altered_response_of1.26518145
32MP0004215_abnormal_myocardial_fiber1.24856250
33MP0010630_abnormal_cardiac_muscle1.17612665
34MP0003950_abnormal_plasma_membrane1.14516452
35MP0005375_adipose_tissue_phenotype1.12871674
36MP0002796_impaired_skin_barrier1.05458947
37MP0002822_catalepsy1.04576045
38MP0003221_abnormal_cardiomyocyte_apopto1.02184614
39MP0001661_extended_life_span1.00424343
40MP0003806_abnormal_nucleotide_metabolis0.97901300
41MP0005266_abnormal_metabolism0.96643405
42MP0002234_abnormal_pharynx_morphology0.96105535
43MP0004134_abnormal_chest_morphology0.91785281
44MP0000762_abnormal_tongue_morphology0.85683228
45MP0005385_cardiovascular_system_phenoty0.81937598
46MP0001544_abnormal_cardiovascular_syste0.81937598
47MP0006035_abnormal_mitochondrial_morpho0.79561831
48MP0000579_abnormal_nail_morphology0.77097413
49MP0009250_abnormal_appendicular_skeleto0.72909802
50MP0000372_irregular_coat_pigmentation0.71141188
51MP0000003_abnormal_adipose_tissue0.70837347
52MP0001299_abnormal_eye_distance/0.69939954
53MP0009780_abnormal_chondrocyte_physiolo0.69515720
54MP0003656_abnormal_erythrocyte_physiolo0.65020322
55MP0008961_abnormal_basal_metabolism0.64240867
56MP0008438_abnormal_cutaneous_collagen0.63598848
57MP0003137_abnormal_impulse_conducting0.59505167
58MP0004085_abnormal_heartbeat0.58969000
59MP0005503_abnormal_tendon_morphology0.58541523
60MP0001243_abnormal_dermal_layer0.58427608
61MP0005334_abnormal_fat_pad0.57707990
62MP0003879_abnormal_hair_cell0.57136687
63MP0000383_abnormal_hair_follicle0.56857085
64MP0005670_abnormal_white_adipose0.56568084
65MP0004147_increased_porphyrin_level0.56128165
66MP0005501_abnormal_skin_physiology0.55589143
67MP0000343_altered_response_to0.54393204
68MP0010030_abnormal_orbit_morphology0.53692131
69MP0002078_abnormal_glucose_homeostasis0.52368762
70MP0003045_fibrosis0.49394062
71MP0002896_abnormal_bone_mineralization0.48768896
72MP0000266_abnormal_heart_morphology0.47766975
73MP0002060_abnormal_skin_morphology0.47558105
74MP0004043_abnormal_pH_regulation0.46980463
75MP0002089_abnormal_postnatal_growth/wei0.44610156
76MP0008775_abnormal_heart_ventricle0.44586269
77MP0005452_abnormal_adipose_tissue0.44457346
78MP0002127_abnormal_cardiovascular_syste0.43905646
79MP0009672_abnormal_birth_weight0.42389005
80MP0008569_lethality_at_weaning0.41606727
81MP0000427_abnormal_hair_cycle0.40404686
82MP0001849_ear_inflammation0.40305890
83MP0004510_myositis0.39750771
84MP0005167_abnormal_blood-brain_barrier0.39633863
85MP0001346_abnormal_lacrimal_gland0.39497695
86MP0003959_abnormal_lean_body0.39384045
87MP0005584_abnormal_enzyme/coenzyme_acti0.37948665
88MP0004142_abnormal_muscle_tone0.37465443
89MP0006138_congestive_heart_failure0.37028434
90MP0002114_abnormal_axial_skeleton0.36095159
91MP0005376_homeostasis/metabolism_phenot0.35549636
92MP0002128_abnormal_blood_circulation0.35538076
93MP0010678_abnormal_skin_adnexa0.35440825
94MP0000377_abnormal_hair_follicle0.34297294
95MP0002734_abnormal_mechanical_nocicepti0.34029000
96MP0009115_abnormal_fat_cell0.32793595
97MP0005535_abnormal_body_temperature0.32782481
98MP0002638_abnormal_pupillary_reflex0.32175871
99MP0005319_abnormal_enzyme/_coenzyme0.30214575
100MP0003948_abnormal_gas_homeostasis0.30120145
101MP0005083_abnormal_biliary_tract0.29984150
102MP0005451_abnormal_body_composition0.28622557
103MP0002249_abnormal_larynx_morphology0.27679610
104MP0009931_abnormal_skin_appearance0.27476229
105MP0010771_integument_phenotype0.25530583
106MP0005165_increased_susceptibility_to0.25389748
107MP0005166_decreased_susceptibility_to0.25388239
108MP0000230_abnormal_systemic_arterial0.24373680
109MP0000647_abnormal_sebaceous_gland0.23398955
110MP0005423_abnormal_somatic_nervous0.22360786
111MP0001853_heart_inflammation0.21544263
112MP0000467_abnormal_esophagus_morphology0.21484957
113MP0001943_abnormal_respiration0.21333098
114MP0003828_pulmonary_edema0.21052385
115MP0010234_abnormal_vibrissa_follicle0.20313069
116MP0003385_abnormal_body_wall0.20044505
117MP0008770_decreased_survivor_rate0.20015637
118MP0004197_abnormal_fetal_growth/weight/0.19470875
119MP0005332_abnormal_amino_acid0.18553636
120MP0004858_abnormal_nervous_system0.18043378
121MP0002066_abnormal_motor_capabilities/c0.17974194
122MP0006276_abnormal_autonomic_nervous0.17919771
123MP0003011_delayed_dark_adaptation0.14797708
124MP0005187_abnormal_penis_morphology0.12930546

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)9.98333652
2Exercise-induced myalgia (HP:0003738)8.58317104
3Type 1 muscle fiber predominance (HP:0003803)8.37334806
4Exercise-induced muscle cramps (HP:0003710)7.66674504
5Myopathic facies (HP:0002058)7.22182934
6* Distal arthrogryposis (HP:0005684)7.00247176
7Muscle hypertrophy of the lower extremities (HP:0008968)6.51595087
8Calf muscle hypertrophy (HP:0008981)5.86826989
9Muscle fiber splitting (HP:0003555)5.38987255
10Difficulty running (HP:0009046)5.33279701
11Hyporeflexia of lower limbs (HP:0002600)5.05926060
12Myoglobinuria (HP:0002913)5.02516811
13* Round ear (HP:0100830)4.95722729
14* Ulnar deviation of the wrist (HP:0003049)4.81694453
15EMG: myopathic abnormalities (HP:0003458)4.68637701
16Increased connective tissue (HP:0009025)4.62162993
17Muscle stiffness (HP:0003552)4.53918892
18Abnormality of skeletal muscle fiber size (HP:0012084)4.23393148
19Rhabdomyolysis (HP:0003201)4.20069533
20Abnormality of the calf musculature (HP:0001430)4.11969266
21* Calcaneovalgus deformity (HP:0001848)4.07335658
22* Absent phalangeal crease (HP:0006109)3.97261448
23Myotonia (HP:0002486)3.96437256
24Neck muscle weakness (HP:0000467)3.90000911
25* Deformed tarsal bones (HP:0008119)3.87010068
26Malignant hyperthermia (HP:0002047)3.81897308
27Increased variability in muscle fiber diameter (HP:0003557)3.71840664
28Frequent falls (HP:0002359)3.67184711
29Rimmed vacuoles (HP:0003805)3.62046095
30Subaortic stenosis (HP:0001682)3.42020625
31Abnormality of the left ventricular outflow tract (HP:0011103)3.42020625
32Difficulty climbing stairs (HP:0003551)3.33361863
33* Abnormal finger flexion creases (HP:0006143)3.24241809
34Areflexia of lower limbs (HP:0002522)3.21970937
35Slender build (HP:0001533)3.21549445
36Pelvic girdle muscle weakness (HP:0003749)3.12668021
37Shoulder girdle muscle weakness (HP:0003547)3.11687725
38Abnormality of the musculature of the pelvis (HP:0001469)3.01722404
39Abnormality of the hip-girdle musculature (HP:0001445)3.01722404
40Fatigable weakness (HP:0003473)2.91662640
41Abnormality of the neuromuscular junction (HP:0003398)2.91662640
42Hyperkalemia (HP:0002153)2.85744857
43Asymmetric septal hypertrophy (HP:0001670)2.75605010
44Popliteal pterygium (HP:0009756)2.73440282
45Mildly elevated creatine phosphokinase (HP:0008180)2.70573102
46EMG: neuropathic changes (HP:0003445)2.68085035
47Distal lower limb muscle weakness (HP:0009053)2.66935827
48Bundle branch block (HP:0011710)2.66517890
49Bulbar palsy (HP:0001283)2.60106836
50Sudden death (HP:0001699)2.59675022
51Spinal rigidity (HP:0003306)2.54467526
52Paralysis (HP:0003470)2.51488885
53Fetal akinesia sequence (HP:0001989)2.51343407
54Generalized muscle weakness (HP:0003324)2.48010092
55Centrally nucleated skeletal muscle fibers (HP:0003687)2.42677726
56Muscular dystrophy (HP:0003560)2.35544217
57Facial diplegia (HP:0001349)2.31144193
58Scapular winging (HP:0003691)2.30534396
59Gowers sign (HP:0003391)2.29951422
60* Abnormality of the calcaneus (HP:0008364)2.29539635
61Weak cry (HP:0001612)2.26420521
62Nonprogressive disorder (HP:0003680)2.23304570
63Proximal amyotrophy (HP:0007126)2.22173811
64Limb-girdle muscle weakness (HP:0003325)2.19647119
65Hypoplastic ischia (HP:0003175)2.16784630
66Abnormality of the shoulder girdle musculature (HP:0001435)2.15872691
67Limb-girdle muscle atrophy (HP:0003797)2.09467165
68Distal lower limb amyotrophy (HP:0008944)2.05879677
69Abnormality of placental membranes (HP:0011409)2.01840878
70Amniotic constriction ring (HP:0009775)2.01840878
71Waddling gait (HP:0002515)2.01342215
72Muscle fiber inclusion bodies (HP:0100299)10.7774618
73Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.4124603
74Progressive muscle weakness (HP:0003323)1.97109581
75Hip contracture (HP:0003273)1.91419218
76Abnormality of the ischium (HP:0003174)1.88890003
77Achilles tendon contracture (HP:0001771)1.88580948
78Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.84695820
79Respiratory insufficiency due to muscle weakness (HP:0002747)1.73147358
80Heart block (HP:0012722)1.72685726
81Exercise intolerance (HP:0003546)1.70894368
82Abnormality of the Achilles tendon (HP:0005109)1.70871284
83* Ulnar deviation of finger (HP:0009465)1.70742906
84Ventricular tachycardia (HP:0004756)1.69322758
85Limited hip movement (HP:0008800)1.65143407
86Long clavicles (HP:0000890)1.64275182
87Abnormal atrioventricular conduction (HP:0005150)1.63569671
88* Metatarsus adductus (HP:0001840)1.59566425
89Ragged-red muscle fibers (HP:0003200)1.58636496
90Congenital hip dislocation (HP:0001374)1.58017098
91Breech presentation (HP:0001623)1.58000700
92Short palpebral fissure (HP:0012745)1.56991280
93Type 2 muscle fiber atrophy (HP:0003554)1.56914689
94Easy fatigability (HP:0003388)1.52498113
95Lower limb amyotrophy (HP:0007210)1.50767482
96Cholelithiasis (HP:0001081)1.50728432
97Aplasia of the musculature (HP:0100854)1.48598310
98Increased density of long bones (HP:0006392)1.47103606
99Stridor (HP:0010307)1.47014406
100Hyperuricemia (HP:0002149)1.46328451
101Increased purine levels (HP:0004368)1.46328451
102Foot dorsiflexor weakness (HP:0009027)1.45743681
103Abnormality of potassium homeostasis (HP:0011042)1.45704605
104Ventricular arrhythmia (HP:0004308)1.44941427
105Dilated cardiomyopathy (HP:0001644)1.43308766
106Lipoatrophy (HP:0100578)1.42931191
107Muscle fiber atrophy (HP:0100295)1.42080254
108Mesomelia (HP:0003027)1.39977334
109Increased intramyocellular lipid droplets (HP:0012240)1.38393545
110Steppage gait (HP:0003376)1.37088631
111Abnormality of the foot musculature (HP:0001436)1.36969909
112Right ventricular cardiomyopathy (HP:0011663)1.35760964
113Gout (HP:0001997)1.35431751
114* Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.34957562
115Oligomenorrhea (HP:0000876)1.33282585
116Increased muscle lipid content (HP:0009058)1.27574948

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.04094535
2TTN6.11308563
3PHKG25.19052071
4PHKG15.19052071
5PIK3CG4.35703667
6NME14.25776705
7MAP2K32.94575316
8NEK12.26317955
9TRIB32.24528518
10MAP3K72.06054370
11PINK11.90447462
12PDK31.77694536
13PDK41.77694536
14DMPK1.70237082
15MAPK121.58218206
16MUSK1.58030317
17PIK3CA1.56408469
18MAP2K41.48039605
19MAP2K61.42086575
20BCKDK1.34228795
21MAP3K31.16292614
22PDK21.15538188
23MAPKAPK31.12571855
24NEK90.88268471
25MARK10.86402767
26TAOK20.82670308
27MAP3K130.81912831
28PRKAA20.78146642
29PKN20.74203724
30PRKAA10.73940200
31TRPM70.73218495
32TAOK10.71185191
33MAP3K110.66695146
34EPHB10.66179296
35ERBB30.65658012
36SIK10.65419695
37AKT20.65250304
38MAPK110.64847856
39STK240.60902495
40ZAK0.60619806
41RIPK10.55397345
42CAMK2G0.54883355
43ILK0.54165132
44CAMK40.53511797
45LIMK10.49632875
46EEF2K0.46086248
47PTK60.42993236
48ERN10.40211957
49CAMK2A0.36701699
50ARAF0.35353110
51CAMK10.35019891
52CAMK2B0.34138248
53MAP3K60.34094633
54MAP3K50.32839964
55TBK10.32816550
56MAP3K10.29405469
57PRKG10.28764028
58CDK190.28515738
59MAP3K100.27271082
60MAPK130.26433601
61RPS6KB10.26327532
62MOS0.26152111
63SGK20.25866098
64MAP2K10.25787342
65KSR20.25632010
66LATS10.24639552
67PRKACB0.24107491
68ROCK10.23550322
69TGFBR20.22674434
70PKN10.22428279
71RPS6KA30.21869383
72MAPK40.21831876
73MARK20.21627785
74MST1R0.21377575
75PRPF4B0.20724772
76LRRK20.20505045
77TYK20.18609071
78MAPK70.17729271
79PDPK10.17722559
80PRKACA0.17026644
81TIE10.15276523
82PRKD10.15141149
83FER0.14967212
84DYRK1B0.14456874
85DAPK20.14315768
86RAF10.14104409
87PDK10.13301573
88MAP3K90.12330672
89CAMK1G0.12240105
90ZAP700.11670209
91LATS20.11567168
92RPS6KB20.11425163
93RPS6KL10.10891163
94RPS6KC10.10891163
95BMX0.10643170
96RPS6KA10.08603131
97DDR20.08494526
98BRAF0.08072651
99ICK0.07931209
100INSRR0.07671912
101SGK2230.07649710
102SGK4940.07649710
103MARK30.07521968
104FGFR10.07243187
105RPS6KA60.06676018
106ROCK20.06296143
107TNK20.06016106
108KSR10.05957771
109JAK20.05061500
110FGFR30.04419255
111PAK60.04369134
112MTOR0.04243776
113PRKG20.03859076
114STK110.03573639
115NLK0.03079399
116GSK3A0.02923742
117PRKACG0.02650406
118MAPK80.02146425
119FLT30.01991968
120EPHA30.01605599
121MAPK100.01415567
122MAPKAPK20.01384222
123CSNK1D0.01069752
124PDGFRA0.01059762
125SGK30.00946970
126CDK60.00882527
127* SGK1-0.0167065
128CCNB1-0.0165566
129PTK2B-0.0047088
130CAMK2D-0.0012122
131RET-0.0009172

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.37472668
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.06989143
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.93687615
4Cardiac muscle contraction_Homo sapiens_hsa042603.55465802
5Dilated cardiomyopathy_Homo sapiens_hsa054143.55006366
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.18199867
7Starch and sucrose metabolism_Homo sapiens_hsa005003.02528493
8Glucagon signaling pathway_Homo sapiens_hsa049222.34167541
9Insulin signaling pathway_Homo sapiens_hsa049102.31922002
10Oxytocin signaling pathway_Homo sapiens_hsa049212.24980757
11Insulin resistance_Homo sapiens_hsa049312.17070385
12Circadian rhythm_Homo sapiens_hsa047102.14613657
13Propanoate metabolism_Homo sapiens_hsa006402.12845938
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.10172208
15Carbon metabolism_Homo sapiens_hsa012002.06944691
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.95027770
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.81087704
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.78804467
19AMPK signaling pathway_Homo sapiens_hsa041521.70348114
20Galactose metabolism_Homo sapiens_hsa000521.67617095
21Calcium signaling pathway_Homo sapiens_hsa040201.64201755
22Tight junction_Homo sapiens_hsa045301.55605246
23Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.52856947
24Fructose and mannose metabolism_Homo sapiens_hsa000511.45761890
25Alzheimers disease_Homo sapiens_hsa050101.45729777
26Viral myocarditis_Homo sapiens_hsa054161.44949327
27Parkinsons disease_Homo sapiens_hsa050121.43393481
28Biosynthesis of amino acids_Homo sapiens_hsa012301.43155995
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37171678
30Fatty acid degradation_Homo sapiens_hsa000711.31377531
31Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27751130
32Focal adhesion_Homo sapiens_hsa045101.23852219
33Pyruvate metabolism_Homo sapiens_hsa006201.23269488
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.23194848
35Arginine and proline metabolism_Homo sapiens_hsa003301.13230521
36Vascular smooth muscle contraction_Homo sapiens_hsa042701.12089821
37Oxidative phosphorylation_Homo sapiens_hsa001901.11118547
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10913765
39Pentose phosphate pathway_Homo sapiens_hsa000301.07605433
40GnRH signaling pathway_Homo sapiens_hsa049121.03464071
41Gastric acid secretion_Homo sapiens_hsa049711.03386319
42Central carbon metabolism in cancer_Homo sapiens_hsa052301.00643470
43Fatty acid metabolism_Homo sapiens_hsa012120.94089183
44FoxO signaling pathway_Homo sapiens_hsa040680.92567603
45VEGF signaling pathway_Homo sapiens_hsa043700.87556186
46Long-term potentiation_Homo sapiens_hsa047200.87513290
47HIF-1 signaling pathway_Homo sapiens_hsa040660.83685207
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.82257626
49Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81973269
50Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.80165001
51mTOR signaling pathway_Homo sapiens_hsa041500.74808932
52Renin secretion_Homo sapiens_hsa049240.70427127
53Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70071849
54MAPK signaling pathway_Homo sapiens_hsa040100.69909800
55Fatty acid biosynthesis_Homo sapiens_hsa000610.67890985
56Arginine biosynthesis_Homo sapiens_hsa002200.67855407
57Platelet activation_Homo sapiens_hsa046110.66437793
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.64760299
59Amoebiasis_Homo sapiens_hsa051460.60763235
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.60225434
61PPAR signaling pathway_Homo sapiens_hsa033200.59937094
62Proteoglycans in cancer_Homo sapiens_hsa052050.57017570
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54716184
64Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53428667
65Adherens junction_Homo sapiens_hsa045200.52754945
66Circadian entrainment_Homo sapiens_hsa047130.46328529
67Huntingtons disease_Homo sapiens_hsa050160.43691978
68Insulin secretion_Homo sapiens_hsa049110.43340233
69Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.42205655
70beta-Alanine metabolism_Homo sapiens_hsa004100.41990958
71Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.41382142
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.40867028
73ECM-receptor interaction_Homo sapiens_hsa045120.37988460
74Type II diabetes mellitus_Homo sapiens_hsa049300.34659745
75Long-term depression_Homo sapiens_hsa047300.34495683
76Phenylalanine metabolism_Homo sapiens_hsa003600.34216610
77Renal cell carcinoma_Homo sapiens_hsa052110.32883196
78AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.32045340
79Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.31707688
80Regulation of autophagy_Homo sapiens_hsa041400.29987198
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.26706121
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26371969
83Fat digestion and absorption_Homo sapiens_hsa049750.24543903
84Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.23967812
85Peroxisome_Homo sapiens_hsa041460.23921504
86Tryptophan metabolism_Homo sapiens_hsa003800.22917618
87Pancreatic secretion_Homo sapiens_hsa049720.22628709
88Amphetamine addiction_Homo sapiens_hsa050310.22626136
89Fatty acid elongation_Homo sapiens_hsa000620.22472157
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21842419
91cAMP signaling pathway_Homo sapiens_hsa040240.21628324
92Lysine degradation_Homo sapiens_hsa003100.20956491
93Histidine metabolism_Homo sapiens_hsa003400.20551329
94Thyroid cancer_Homo sapiens_hsa052160.20216133
95Linoleic acid metabolism_Homo sapiens_hsa005910.19982628
96Acute myeloid leukemia_Homo sapiens_hsa052210.19961459
97Prolactin signaling pathway_Homo sapiens_hsa049170.18991433
98Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.18986804
99Phototransduction_Homo sapiens_hsa047440.17347936
100Neurotrophin signaling pathway_Homo sapiens_hsa047220.17037222
101Salivary secretion_Homo sapiens_hsa049700.16995191
102Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.16106863
103Melanogenesis_Homo sapiens_hsa049160.15288824
104Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14247301
105Toxoplasmosis_Homo sapiens_hsa051450.14055929
106Cholinergic synapse_Homo sapiens_hsa047250.12661634
107Butanoate metabolism_Homo sapiens_hsa006500.10993015
108Nitrogen metabolism_Homo sapiens_hsa009100.09574818
109Olfactory transduction_Homo sapiens_hsa047400.09085420
110Glioma_Homo sapiens_hsa052140.08489462
111Legionellosis_Homo sapiens_hsa051340.08448105
112Basal cell carcinoma_Homo sapiens_hsa052170.07337767
113Purine metabolism_Homo sapiens_hsa002300.07313390
114Pertussis_Homo sapiens_hsa051330.07189686
115Salmonella infection_Homo sapiens_hsa051320.07127221
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.07046125
117Protein digestion and absorption_Homo sapiens_hsa049740.06365438
118Tyrosine metabolism_Homo sapiens_hsa003500.06179125
119Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.05950635

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