TPM2

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 beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of skeletal muscle contraction (GO:0014819)9.77795775
2* actin-mediated cell contraction (GO:0070252)9.18476035
3plasma membrane repair (GO:0001778)8.52563531
4skeletal muscle contraction (GO:0003009)8.50004542
5* actin filament-based movement (GO:0030048)7.01326142
6sarcoplasmic reticulum calcium ion transport (GO:0070296)6.99134878
7skeletal muscle fiber development (GO:0048741)6.94722088
8sarcomere organization (GO:0045214)6.08644465
9myotube cell development (GO:0014904)5.90054597
10skeletal muscle adaptation (GO:0043501)5.87986518
11positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.19437921
12striated muscle contraction (GO:0006941)4.99871751
13* muscle contraction (GO:0006936)4.92322762
14negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.69833488
15actomyosin structure organization (GO:0031032)4.67579078
16myofibril assembly (GO:0030239)4.63168816
17muscle fiber development (GO:0048747)4.51394392
18response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.50779465
19striated muscle atrophy (GO:0014891)4.40404595
20* muscle system process (GO:0003012)4.34088607
21skeletal muscle tissue regeneration (GO:0043403)4.31600674
22response to inactivity (GO:0014854)4.29981827
23positive regulation of myotube differentiation (GO:0010831)4.10826782
24myoblast fusion (GO:0007520)4.10104361
25muscle cell fate commitment (GO:0042693)4.04097622
26regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.02032034
27pyrimidine ribonucleoside catabolic process (GO:0046133)3.93126526
28response to muscle activity (GO:0014850)3.92132311
29kidney mesenchyme development (GO:0072074)3.89381278
30syncytium formation (GO:0006949)3.88816113
31muscle organ development (GO:0007517)3.81048792
32syncytium formation by plasma membrane fusion (GO:0000768)3.74764019
33muscle structure development (GO:0061061)3.74574127
34negative regulation of protein localization to cell surface (GO:2000009)3.73335761
35cytidine deamination (GO:0009972)3.71286581
36cytidine metabolic process (GO:0046087)3.71286581
37cytidine catabolic process (GO:0006216)3.71286581
38regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.69833117
39creatine metabolic process (GO:0006600)3.68878182
40striated muscle cell development (GO:0055002)3.67243755
41muscle atrophy (GO:0014889)3.66942930
42hemidesmosome assembly (GO:0031581)3.64507232
43metanephric mesenchyme development (GO:0072075)3.63751003
44negative regulation of potassium ion transmembrane transport (GO:1901380)3.62619225
45skeletal muscle tissue development (GO:0007519)3.60541935
46collagen fibril organization (GO:0030199)3.59366726
47muscle cell cellular homeostasis (GO:0046716)3.56052533
48regulation of skeletal muscle cell differentiation (GO:2001014)3.52786248
49muscle tissue morphogenesis (GO:0060415)3.52568815
50regulation of cell communication by electrical coupling (GO:0010649)3.49585346
51cardiac myofibril assembly (GO:0055003)3.45671062
52striated muscle adaptation (GO:0014888)3.44336752
53chondrocyte proliferation (GO:0035988)3.43394229
54cell-substrate junction assembly (GO:0007044)3.41324867
55skin morphogenesis (GO:0043589)3.37971800
56positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.37232727
57carnitine shuttle (GO:0006853)3.32453037
58cardiac muscle cell development (GO:0055013)3.32038364
59myotube differentiation (GO:0014902)3.31105726
60epithelial cell-cell adhesion (GO:0090136)3.30899002
61cell migration involved in heart development (GO:0060973)3.30645454
62positive regulation of myoblast differentiation (GO:0045663)3.29906028
63sequestering of extracellular ligand from receptor (GO:0035581)3.26914687
64endodermal cell differentiation (GO:0035987)3.26845269
65glycogen biosynthetic process (GO:0005978)3.25581545
66glucan biosynthetic process (GO:0009250)3.25581545
67cardiac muscle tissue morphogenesis (GO:0055008)3.25280376
68protein hydroxylation (GO:0018126)3.22713338
69purine nucleotide salvage (GO:0032261)3.22659351
70regulation of the force of heart contraction (GO:0002026)3.21789281
71muscle cell development (GO:0055001)3.21503747
72protein heterotrimerization (GO:0070208)3.18729930
73negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.17075561
74negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.16248094
75bone trabecula formation (GO:0060346)3.15860585
76regulation of relaxation of muscle (GO:1901077)3.15557717
77cardiac cell development (GO:0055006)3.14163083
78regulation of actin filament-based movement (GO:1903115)3.12748556
79cardiac muscle hypertrophy (GO:0003300)3.09624587
80striated muscle tissue development (GO:0014706)3.08781689
81glycogen catabolic process (GO:0005980)3.06810272
82negative regulation of fatty acid transport (GO:2000192)3.04171506
83cardiac muscle contraction (GO:0060048)3.03988198
84muscle tissue development (GO:0060537)3.00996414
85negative regulation of cell size (GO:0045792)3.00430608
86wound healing, spreading of epidermal cells (GO:0035313)3.00021480
87regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.97671450
88striated muscle hypertrophy (GO:0014897)2.94867869
89desmosome organization (GO:0002934)2.94022271
90extracellular matrix assembly (GO:0085029)2.93424033
91regulation of myotube differentiation (GO:0010830)2.92898379
92regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.92628879
93negative regulation of cardiac muscle tissue growth (GO:0055022)2.92110449
94negative regulation of heart growth (GO:0061117)2.92110449
95regulation of myoblast differentiation (GO:0045661)2.90451088
96extracellular fibril organization (GO:0043206)2.88768051
97regulation of p38MAPK cascade (GO:1900744)2.88767414
98regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.86820090
99basement membrane organization (GO:0071711)2.86057703
100glucan catabolic process (GO:0009251)2.84842709
101actin filament depolymerization (GO:0030042)2.84003487
102cell adhesion mediated by integrin (GO:0033627)2.84002450
103tooth mineralization (GO:0034505)2.82846391
104muscle adaptation (GO:0043500)2.81711063
105regulation of skeletal muscle fiber development (GO:0048742)2.80934046
106peptidyl-proline hydroxylation (GO:0019511)2.78560115
107regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.78410630
108cell-substrate adherens junction assembly (GO:0007045)2.77108785
109focal adhesion assembly (GO:0048041)2.77108785
110fatty acid transmembrane transport (GO:1902001)2.75798220
111negative regulation of nitric-oxide synthase activity (GO:0051001)2.74751571
112keratinization (GO:0031424)2.73892480
113NADH metabolic process (GO:0006734)2.73466228
114adherens junction assembly (GO:0034333)2.72931873
115regulation of muscle contraction (GO:0006937)2.72764346
116regulation of muscle system process (GO:0090257)2.72271936
117negative regulation of muscle hypertrophy (GO:0014741)2.71770809
118positive regulation of blood vessel endothelial cell migration (GO:0043536)2.71556697
119neuromuscular junction development (GO:0007528)2.71464013
120regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.69777899
121regulation of striated muscle contraction (GO:0006942)2.67931548
122muscle organ morphogenesis (GO:0048644)2.67801831
123heart contraction (GO:0060047)2.67563681
124heart process (GO:0003015)2.67563681
125positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.66909076
126* actin-myosin filament sliding (GO:0033275)10.9496416
127* muscle filament sliding (GO:0030049)10.9496416

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.91473096
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.67658467
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse4.53270892
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.40138582
5CLOCK_20551151_ChIP-Seq_293T_Human3.09782516
6TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.78343893
7ESR1_20079471_ChIP-ChIP_T-47D_Human2.71813753
8ESR1_21235772_ChIP-Seq_MCF-7_Human2.60707025
9* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.59999492
10BP1_19119308_ChIP-ChIP_Hs578T_Human2.57973622
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.55835386
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.55060202
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.42109384
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.39010191
15ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.33811133
16TBX20_22328084_ChIP-Seq_HEART_Mouse2.19321686
17TBX20_22080862_ChIP-Seq_HEART_Mouse2.19321686
18PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.15435495
19CJUN_26792858_Chip-Seq_BT549_Human2.14430261
20MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.04062145
21EP300_21415370_ChIP-Seq_HL-1_Mouse2.01223165
22HIF1A_21447827_ChIP-Seq_MCF-7_Human2.01107810
23CDX2_19796622_ChIP-Seq_MESCs_Mouse1.93777378
24ZNF263_19887448_ChIP-Seq_K562_Human1.87230390
25ELK3_25401928_ChIP-Seq_HUVEC_Human1.87057286
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84577742
27SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.84505353
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.83978536
29ATF3_27146783_Chip-Seq_COLON_Human1.81561232
30CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.80072762
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.77639601
32P63_26484246_Chip-Seq_KERATINOCYTES_Human1.76988723
33RACK7_27058665_Chip-Seq_MCF-7_Human1.75798582
34SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.75503233
35SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.75503233
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.71852641
37* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.70678896
38RBPJ_22232070_ChIP-Seq_NCS_Mouse1.68926141
39ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.66966270
40KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.66895375
41EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.65219333
42WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.62888406
43UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.59716784
44TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.57015307
45SMC1_22415368_ChIP-Seq_MEFs_Mouse1.56137556
46P300_27058665_Chip-Seq_ZR-75-30cells_Human1.50770494
47WT1_19549856_ChIP-ChIP_CCG9911_Human1.49259345
48STAT6_21828071_ChIP-Seq_BEAS2B_Human1.46047023
49TP53_20018659_ChIP-ChIP_R1E_Mouse1.44633496
50RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44480291
51EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44480291
52* BRD4_25478319_ChIP-Seq_HGPS_Human1.42990445
53JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.39943136
54ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.39463033
55NRF2_20460467_ChIP-Seq_MEFs_Mouse1.37687095
56NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.37687095
57ESR1_15608294_ChIP-ChIP_MCF-7_Human1.35610182
58JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.35151929
59TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.34603503
60UBF1/2_26484160_Chip-Seq_HMECs_Human1.33904100
61KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.33774179
62SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33529067
63SA1_22415368_ChIP-Seq_MEFs_Mouse1.33476855
64SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.33388419
65NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.33219470
66SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.31233457
67ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.30670799
68SMC3_22415368_ChIP-Seq_MEFs_Mouse1.30363449
69* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.28664491
70* SOX2_20726797_ChIP-Seq_SW620_Human1.28484131
71SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.27850416
72SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.26182097
73THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26053769
74EED_16625203_ChIP-ChIP_MESCs_Mouse1.25870823
75TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25707380
76FOXO3_23340844_ChIP-Seq_DLD1_Human1.24845994
77CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.22963108
78BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.22523353
79CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.22201739
80* LXR_22292898_ChIP-Seq_THP-1_Human1.20490439
81SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.18213136
82* TP53_22127205_ChIP-Seq_IMR90_Human1.16089819
83NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.14640787
84KDM2B_26808549_Chip-Seq_SUP-B15_Human1.13470983
85* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.11735401
86TP53_23651856_ChIP-Seq_MEFs_Mouse1.07695816
87ISL1_27105846_Chip-Seq_CPCs_Mouse1.07413057
88RUNX1_27514584_Chip-Seq_MCF-7_Human1.06216192
89TP53_18474530_ChIP-ChIP_U2OS_Human1.05599402
90NFI_21473784_ChIP-Seq_ESCs_Mouse1.04607560
91KDM2B_26808549_Chip-Seq_DND41_Human1.04361814
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.02623088
93* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.01762316
94DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.01650623
95SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01474779
96ERG_21242973_ChIP-ChIP_JURKAT_Human1.00662850
97STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.00383151
98ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.99787448
99GATA3_24758297_ChIP-Seq_MCF-7_Human0.98953514
100HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.98073497
101ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.97946198
102JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97909573
103HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.97815157
104TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96839943
105GATA4_21415370_ChIP-Seq_HL-1_Mouse0.96785368
106CTCF_21964334_Chip-Seq_Bcells_Human0.96466514
107RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.96266129
108* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.96204875
109KLF5_25053715_ChIP-Seq_YYC3_Human0.96188455
110SALL4_18804426_ChIP-ChIP_XEN_Mouse0.95933102
111RAD21_21589869_ChIP-Seq_MESCs_Mouse0.95805974
112TP63_22573176_ChIP-Seq_HFKS_Human0.95274471
113GATA2_21666600_ChIP-Seq_HMVEC_Human0.94559111
114* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93487005
115NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.93151806
116EZH2_27294783_Chip-Seq_ESCs_Mouse0.92892502
117PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.92223894
118FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.91496355
119CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.91008503
120NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.90397263
121CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90353021
122CTCF_27219007_Chip-Seq_Bcells_Human0.89982196
123* CSB_26484114_Chip-Seq_FIBROBLAST_Human0.89357577
124PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89171611
125CREB1_26743006_Chip-Seq_LNCaP_Human0.86514923
126CTCF_27219007_Chip-Seq_ERYTHROID_Human0.86298514
127TP53_16413492_ChIP-PET_HCT116_Human0.84831429
128TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84093121
129STAT3_1855785_ChIP-Seq_MESCs_Mouse0.81455588
130ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80386538
131NFIB_24661679_ChIP-Seq_LUNG_Mouse0.79899137

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration5.16856517
2MP0000751_myopathy4.93207199
3MP0004145_abnormal_muscle_electrophysio4.91614434
4MP0008438_abnormal_cutaneous_collagen4.01164550
5MP0005275_abnormal_skin_tensile3.63245606
6MP0000750_abnormal_muscle_regeneration3.53106225
7MP0000747_muscle_weakness3.48815050
8MP0002106_abnormal_muscle_physiology3.12325450
9MP0000759_abnormal_skeletal_muscle3.06050185
10MP0004087_abnormal_muscle_fiber2.99599468
11MP0003705_abnormal_hypodermis_morpholog2.91787960
12MP0002837_dystrophic_cardiac_calcinosis2.89565562
13MP0000733_abnormal_muscle_development2.88791836
14MP0004036_abnormal_muscle_relaxation2.86755868
15MP0003646_muscle_fatigue2.80389521
16MP0005369_muscle_phenotype2.69932253
17MP0002269_muscular_atrophy2.66514165
18MP0005620_abnormal_muscle_contractility2.53057338
19MP0005503_abnormal_tendon_morphology2.26082027
20MP0002108_abnormal_muscle_morphology2.02569427
21MP0005330_cardiomyopathy2.01958004
22MP0004084_abnormal_cardiac_muscle2.01228940
23MP0004233_abnormal_muscle_weight1.97344138
24MP0003279_aneurysm1.91187377
25MP0005451_abnormal_body_composition1.89516280
26MP0004130_abnormal_muscle_cell1.87899867
27MP0000013_abnormal_adipose_tissue1.85927958
28MP0003566_abnormal_cell_adhesion1.75927271
29MP0003950_abnormal_plasma_membrane1.72517498
30MP0004272_abnormal_basement_membrane1.50352719
31MP0005623_abnormal_meninges_morphology1.42805672
32MP0001958_emphysema1.42357329
33MP0004185_abnormal_adipocyte_glucose1.41604226
34MP0010030_abnormal_orbit_morphology1.34904709
35MP0002060_abnormal_skin_morphology1.33805455
36MP0002972_abnormal_cardiac_muscle1.33753779
37MP0010630_abnormal_cardiac_muscle1.32158580
38MP0010352_gastrointestinal_tract_polyps1.30298488
39MP0009250_abnormal_appendicular_skeleto1.29908449
40MP0009780_abnormal_chondrocyte_physiolo1.27296967
41MP0001299_abnormal_eye_distance/1.27232560
42MP0004484_altered_response_of1.24151770
43MP0009384_cardiac_valve_regurgitation1.23769675
44MP0002332_abnormal_exercise_endurance1.22902693
45MP0004215_abnormal_myocardial_fiber1.20191286
46MP0005666_abnormal_adipose_tissue1.19037391
47MP0005023_abnormal_wound_healing1.17304709
48MP0002796_impaired_skin_barrier1.15396873
49MP0006054_spinal_hemorrhage1.13829886
50MP0001243_abnormal_dermal_layer1.13795667
51MP0002127_abnormal_cardiovascular_syste1.13587513
52MP0001542_abnormal_bone_strength1.13442300
53MP0005375_adipose_tissue_phenotype1.13174949
54MP0003385_abnormal_body_wall1.12323655
55MP0004510_myositis1.11673509
56MP0002971_abnormal_brown_adipose1.09989096
57MP0003045_fibrosis1.05962991
58MP0003941_abnormal_skin_development1.05173653
59MP0000762_abnormal_tongue_morphology1.04282656
60MP0000003_abnormal_adipose_tissue1.03944248
61MP0002234_abnormal_pharynx_morphology1.03771760
62MP0004858_abnormal_nervous_system1.02125848
63MP0001661_extended_life_span0.99282106
64MP0002896_abnormal_bone_mineralization0.97319672
65MP0005508_abnormal_skeleton_morphology0.94883617
66MP0003091_abnormal_cell_migration0.93644335
67MP0001544_abnormal_cardiovascular_syste0.91606319
68MP0005385_cardiovascular_system_phenoty0.91606319
69MP0000767_abnormal_smooth_muscle0.91335204
70MP0004134_abnormal_chest_morphology0.90301323
71MP0005257_abnormal_intraocular_pressure0.88528316
72MP0005595_abnormal_vascular_smooth0.87462801
73MP0003828_pulmonary_edema0.85747597
74MP0005501_abnormal_skin_physiology0.83526528
75MP0000579_abnormal_nail_morphology0.79301697
76MP0000516_abnormal_urinary_system0.79085231
77MP0005367_renal/urinary_system_phenotyp0.79085231
78MP0006138_congestive_heart_failure0.78426265
79MP0008775_abnormal_heart_ventricle0.77203204
80MP0003755_abnormal_palate_morphology0.68844343
81MP0000534_abnormal_ureter_morphology0.68132368
82MP0000343_altered_response_to0.68019711
83MP0002877_abnormal_melanocyte_morpholog0.65490124
84MP0009053_abnormal_anal_canal0.64896821
85MP0000266_abnormal_heart_morphology0.64275331
86MP0002128_abnormal_blood_circulation0.63726435
87MP0003221_abnormal_cardiomyocyte_apopto0.63679492
88MP0000467_abnormal_esophagus_morphology0.62805710
89MP0008004_abnormal_stomach_pH0.60603226
90MP0005670_abnormal_white_adipose0.60529288
91MP0002114_abnormal_axial_skeleton0.59546146
92MP0000163_abnormal_cartilage_morphology0.59201926
93MP0002932_abnormal_joint_morphology0.58698683
94MP0003137_abnormal_impulse_conducting0.58059065
95MP0002115_abnormal_skeleton_extremities0.57407266
96MP0004270_analgesia0.57265747
97MP0001879_abnormal_lymphatic_vessel0.57253734
98MP0002254_reproductive_system_inflammat0.57052553
99MP0001348_abnormal_lacrimal_gland0.56547821
100MP0010234_abnormal_vibrissa_follicle0.56437778
101MP0002295_abnormal_pulmonary_circulatio0.56191263
102MP0010368_abnormal_lymphatic_system0.54857461
103MP0000428_abnormal_craniofacial_morphol0.54658972
104MP0005165_increased_susceptibility_to0.54531830
105MP0001849_ear_inflammation0.54462017
106MP0010771_integument_phenotype0.53851895
107MP0002089_abnormal_postnatal_growth/wei0.53634283
108MP0001614_abnormal_blood_vessel0.53631547
109MP0000462_abnormal_digestive_system0.53545574
110MP0003942_abnormal_urinary_system0.51877600
111MP0004085_abnormal_heartbeat0.51405794
112MP0002249_abnormal_larynx_morphology0.50942167
113MP0002168_other_aberrant_phenotype0.50612860
114MP0005266_abnormal_metabolism0.48673688
115MP0006036_abnormal_mitochondrial_physio0.48579884
116MP0002113_abnormal_skeleton_development0.45292431

Predicted human phenotypes

RankGene SetZ-score
1* Muscle fiber inclusion bodies (HP:0100299)9.13751693
2* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)8.80332685
3* Nemaline bodies (HP:0003798)8.10402497
4* Type 1 muscle fiber predominance (HP:0003803)7.70909872
5* Distal arthrogryposis (HP:0005684)6.36019302
6Exercise-induced myalgia (HP:0003738)5.80222301
7Muscle fiber splitting (HP:0003555)5.25798582
8* Myopathic facies (HP:0002058)5.18267304
9Exercise-induced muscle cramps (HP:0003710)5.15538419
10* Round ear (HP:0100830)4.91824431
11Increased connective tissue (HP:0009025)4.87054742
12Hyporeflexia of lower limbs (HP:0002600)4.85113739
13Muscle hypertrophy of the lower extremities (HP:0008968)4.74063977
14Abnormality of skeletal muscle fiber size (HP:0012084)4.53581727
15Calf muscle hypertrophy (HP:0008981)4.53559976
16Difficulty running (HP:0009046)4.52532405
17EMG: myopathic abnormalities (HP:0003458)4.35911481
18* Ulnar deviation of the wrist (HP:0003049)4.30320432
19Increased variability in muscle fiber diameter (HP:0003557)4.07005123
20* Calcaneovalgus deformity (HP:0001848)4.05916434
21Abnormality of the calf musculature (HP:0001430)4.05686281
22Malignant hyperthermia (HP:0002047)3.97869897
23Difficulty climbing stairs (HP:0003551)3.84887432
24* Deformed tarsal bones (HP:0008119)3.70677684
25* Absent phalangeal crease (HP:0006109)3.70126392
26Mildly elevated creatine phosphokinase (HP:0008180)3.64313192
27Spinal rigidity (HP:0003306)3.57639511
28Slender build (HP:0001533)3.43628799
29Frequent falls (HP:0002359)3.39191301
30Protrusio acetabuli (HP:0003179)3.37010936
31Fetal akinesia sequence (HP:0001989)3.25724154
32Premature rupture of membranes (HP:0001788)3.23268622
33Aortic aneurysm (HP:0004942)3.21015724
34Myotonia (HP:0002486)3.20415814
35* Neck muscle weakness (HP:0000467)3.20382104
36Muscle stiffness (HP:0003552)3.15900297
37Myoglobinuria (HP:0002913)3.15473435
38Aortic dissection (HP:0002647)3.07448437
39Abnormality of the neuromuscular junction (HP:0003398)3.05576997
40Fatigable weakness (HP:0003473)3.05576997
41* Abnormal finger flexion creases (HP:0006143)2.95122576
42* Abnormality of the calcaneus (HP:0008364)2.89373319
43Rimmed vacuoles (HP:0003805)2.80317754
44Right ventricular cardiomyopathy (HP:0011663)2.79960833
45Increased density of long bones (HP:0006392)2.78071728
46Sudden death (HP:0001699)2.75485482
47Distal lower limb muscle weakness (HP:0009053)2.69532163
48Popliteal pterygium (HP:0009756)2.69145297
49Bulbar palsy (HP:0001283)2.68400632
50Distal lower limb amyotrophy (HP:0008944)2.67240279
51Centrally nucleated skeletal muscle fibers (HP:0003687)2.65415945
52Rhabdomyolysis (HP:0003201)2.64671175
53* Scapular winging (HP:0003691)2.58075959
54Vascular tortuosity (HP:0004948)2.57546336
55Generalized muscle weakness (HP:0003324)2.57328876
56Soft skin (HP:0000977)2.57189737
57Weak cry (HP:0001612)2.56171444
58Areflexia of lower limbs (HP:0002522)2.54974019
59Pelvic girdle muscle weakness (HP:0003749)2.47224995
60Abnormality of the left ventricular outflow tract (HP:0011103)2.45592277
61Subaortic stenosis (HP:0001682)2.45592277
62Shoulder girdle muscle weakness (HP:0003547)2.41683683
63Bladder diverticulum (HP:0000015)2.39064650
64Bundle branch block (HP:0011710)2.37938231
65Abnormality of the hip-girdle musculature (HP:0001445)2.37001512
66Abnormality of the musculature of the pelvis (HP:0001469)2.37001512
67Limb-girdle muscle atrophy (HP:0003797)2.31956343
68Arterial tortuosity (HP:0005116)2.28565652
69EMG: neuropathic changes (HP:0003445)2.27966493
70Muscular dystrophy (HP:0003560)2.26209640
71Cerebral aneurysm (HP:0004944)2.24494207
72Aplasia of the musculature (HP:0100854)2.24097200
73Asymmetric septal hypertrophy (HP:0001670)2.23180421
74Breech presentation (HP:0001623)2.21767491
75* Gowers sign (HP:0003391)2.20298395
76Wrist flexion contracture (HP:0001239)2.20037732
77Atrophic scars (HP:0001075)2.18184602
78Generalized amyotrophy (HP:0003700)2.15691538
79Thin ribs (HP:0000883)2.14900376
80Limb-girdle muscle weakness (HP:0003325)2.12347491
81Amniotic constriction ring (HP:0009775)2.10552219
82Abnormality of placental membranes (HP:0011409)2.10552219
83Dilated cardiomyopathy (HP:0001644)2.08248787
84Hypoplastic ischia (HP:0003175)2.07062933
85Ankle contracture (HP:0006466)2.06290762
86Abnormality of dentin (HP:0010299)2.05653202
87* Abnormality of the shoulder girdle musculature (HP:0001435)2.03512535
88Achilles tendon contracture (HP:0001771)2.03352453
89Follicular hyperkeratosis (HP:0007502)2.02564051
90Pterygium (HP:0001059)1.98889498
91Proximal amyotrophy (HP:0007126)1.98584985
92Infantile muscular hypotonia (HP:0008947)1.96123816
93Type 2 muscle fiber atrophy (HP:0003554)1.94523619
94Ventricular tachycardia (HP:0004756)1.94022724
95Wormian bones (HP:0002645)1.93895519
96Lower limb amyotrophy (HP:0007210)1.92151048
97Respiratory insufficiency due to muscle weakness (HP:0002747)1.91056130
98Long clavicles (HP:0000890)1.89502314
99Abnormal delivery (HP:0001787)1.89326204
100Broad metatarsal (HP:0001783)1.88836590
101* Hip contracture (HP:0003273)1.88582713
102Fragile skin (HP:0001030)1.87667651
103Neonatal short-limb short stature (HP:0008921)1.85155174
104Mesomelia (HP:0003027)1.84288475
105Muscle fiber atrophy (HP:0100295)1.82024410
106Lipoatrophy (HP:0100578)1.81860298
107Peritonitis (HP:0002586)1.81332932
108Abnormality of the Achilles tendon (HP:0005109)1.79736248
109Abnormality of the ischium (HP:0003174)1.79071129
110* Tarsal synostosis (HP:0008368)1.77284758
111Mitral valve prolapse (HP:0001634)1.77049961
112Blue sclerae (HP:0000592)1.76796678
113Genu recurvatum (HP:0002816)1.72817409
114Shallow orbits (HP:0000586)1.72730493
115* Metatarsus adductus (HP:0001840)1.71920243
116Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.71183061
117Progressive muscle weakness (HP:0003323)1.71019974
118* Ulnar deviation of finger (HP:0009465)1.70468391
119Dilatation of the ascending aorta (HP:0005111)1.68134169

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.87335135
2TTN6.95218923
3TRIB33.31341442
4PHKG22.87874933
5PHKG12.87874933
6MYLK2.76498996
7DMPK2.73477006
8NME12.45670810
9MAP2K32.20617750
10MAPKAPK32.06543589
11PIK3CA2.02796641
12LIMK11.92940935
13DDR21.65851897
14NEK11.64311380
15PKN21.57080327
16PAK21.53610871
17LATS11.48699441
18LATS21.48328037
19ERN11.46223805
20TESK11.39013765
21TRPM71.38153970
22PDK41.38023822
23PDK31.38023822
24MUSK1.37274701
25MAP3K31.36660293
26MAP3K71.34599089
27MOS1.33056782
28PDGFRA1.31727811
29ILK1.21067074
30RIPK11.17105203
31PDK21.13942134
32MAPK121.09493498
33EPHB21.05485087
34NTRK11.04524972
35FER1.02004478
36EEF2K0.97904414
37SIK10.97555700
38ROCK10.96440077
39PIM20.93021918
40PTK60.92140653
41ERBB30.91026478
42ZAK0.89883206
43MAPK70.88217719
44LRRK20.85860703
45EPHB10.85242835
46MAP2K10.84540612
47PTK20.81465176
48PRKD20.80431333
49NEK90.76728826
50ICK0.75847552
51PTK2B0.73322972
52MARK10.71176421
53BCKDK0.70034433
54TAOK10.69862893
55TAOK20.65493852
56PAK30.65248667
57AKT20.60284271
58AKT30.59972387
59RPS6KB20.59536327
60BMX0.59320588
61CAMK2D0.58873205
62CAMK2G0.58630709
63PAK40.58570166
64DAPK30.58484413
65TGFBR20.57590045
66MAP3K110.55738007
67MAP2K60.55374028
68MAP3K60.55009805
69MAP3K100.54871116
70PINK10.53508763
71ABL20.52358981
72EPHA20.52224793
73MTOR0.51887639
74ROCK20.51595344
75MST1R0.51071382
76FGFR10.50806852
77STK38L0.50790464
78ARAF0.50788129
79MAP3K130.50769967
80CCNB10.50529169
81PAK60.49440582
82STK380.49168635
83GRK70.48836454
84CDC42BPA0.48547368
85MET0.48360190
86TIE10.48198896
87PAK10.45601454
88CAMK2B0.45127439
89EPHA30.43926968
90ERBB40.43830771
91RPS6KA40.43830154
92PRKAA20.43490891
93CDK80.41518388
94MAP2K40.41354471
95CAMK10.40598229
96PRKD10.40229205
97PRPF4B0.39331212
98DYRK1B0.37693789
99RPS6KL10.37280780
100RPS6KC10.37280780
101MARK20.34892364
102STK30.34836967
103MAPK110.34127031
104MAP3K50.33534131
105MAPKAPK20.32961450
106PRKAA10.32195221
107CDK60.30767556
108CAMK2A0.29613828
109ADRBK10.29073386
110MELK0.28602027
111FRK0.27508349
112MAP3K80.23926236
113RPS6KA60.23568444
114PDGFRB0.22694200
115FGFR40.22469096
116PRKG10.21798200
117PDPK10.20870947
118PRKACB0.19626241
119NME20.18850279
120WNK10.18539025
121PRKG20.17872776
122BRAF0.17405616
123KSR20.16953729
124RET0.16883981
125CDK140.14923623
126FLT30.14661778
127STK240.13476527
128INSR0.13209695
129MAPK40.12741125
130RPS6KA20.12719762
131STK100.12547562
132GSK3A0.11566068

Predicted pathways (KEGG)

RankGene SetZ-score
1* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.53542265
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.48036341
3* Dilated cardiomyopathy_Homo sapiens_hsa054143.94317859
4Focal adhesion_Homo sapiens_hsa045102.94138481
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.83903059
6ECM-receptor interaction_Homo sapiens_hsa045122.75116691
7Tight junction_Homo sapiens_hsa045302.33903413
8* Cardiac muscle contraction_Homo sapiens_hsa042602.17765564
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.10108889
10Proteoglycans in cancer_Homo sapiens_hsa052052.01459400
11Vascular smooth muscle contraction_Homo sapiens_hsa042701.91645690
12Adherens junction_Homo sapiens_hsa045201.81571187
13Oxytocin signaling pathway_Homo sapiens_hsa049211.80130905
14Viral myocarditis_Homo sapiens_hsa054161.79002583
15Amoebiasis_Homo sapiens_hsa051461.71701788
16Starch and sucrose metabolism_Homo sapiens_hsa005001.64859205
17Bladder cancer_Homo sapiens_hsa052191.64736354
18Insulin signaling pathway_Homo sapiens_hsa049101.57258460
19Insulin resistance_Homo sapiens_hsa049311.48691228
20Regulation of actin cytoskeleton_Homo sapiens_hsa048101.44275510
21Leukocyte transendothelial migration_Homo sapiens_hsa046701.44162301
22Glucagon signaling pathway_Homo sapiens_hsa049221.40267457
23Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.32987416
24AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.30432585
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.26959273
26AMPK signaling pathway_Homo sapiens_hsa041521.25360662
27Carbon metabolism_Homo sapiens_hsa012001.21042934
28Hippo signaling pathway_Homo sapiens_hsa043901.20930290
29* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.20314582
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.20192521
31Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.17433750
32TGF-beta signaling pathway_Homo sapiens_hsa043501.16188933
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.15766630
34Protein digestion and absorption_Homo sapiens_hsa049741.13681156
35Platelet activation_Homo sapiens_hsa046111.10687244
36HIF-1 signaling pathway_Homo sapiens_hsa040661.08673769
37Central carbon metabolism in cancer_Homo sapiens_hsa052301.01429205
38Galactose metabolism_Homo sapiens_hsa000520.98520504
39VEGF signaling pathway_Homo sapiens_hsa043700.98311294
40Small cell lung cancer_Homo sapiens_hsa052220.97384477
41GnRH signaling pathway_Homo sapiens_hsa049120.91027695
42Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.90409407
43Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.89747220
44Circadian rhythm_Homo sapiens_hsa047100.89736091
45Chronic myeloid leukemia_Homo sapiens_hsa052200.89074671
46MicroRNAs in cancer_Homo sapiens_hsa052060.88949000
47Basal cell carcinoma_Homo sapiens_hsa052170.86440366
48Arginine biosynthesis_Homo sapiens_hsa002200.83616601
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.82197791
50Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81916700
51FoxO signaling pathway_Homo sapiens_hsa040680.81014308
52PI3K-Akt signaling pathway_Homo sapiens_hsa041510.80892783
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79861362
54Propanoate metabolism_Homo sapiens_hsa006400.79018408
55Gastric acid secretion_Homo sapiens_hsa049710.77151097
56Calcium signaling pathway_Homo sapiens_hsa040200.76824329
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76009045
58Biosynthesis of amino acids_Homo sapiens_hsa012300.74979501
59Shigellosis_Homo sapiens_hsa051310.72684548
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72622326
61Malaria_Homo sapiens_hsa051440.70611452
62Salmonella infection_Homo sapiens_hsa051320.69326821
63Fatty acid degradation_Homo sapiens_hsa000710.69089559
64mTOR signaling pathway_Homo sapiens_hsa041500.68301015
65Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66705398
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64313377
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.63983388
68Fructose and mannose metabolism_Homo sapiens_hsa000510.63942932
69MAPK signaling pathway_Homo sapiens_hsa040100.63370067
70Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62223642
71Melanoma_Homo sapiens_hsa052180.61460824
72Toxoplasmosis_Homo sapiens_hsa051450.60458031
73Arginine and proline metabolism_Homo sapiens_hsa003300.59892646
74Renal cell carcinoma_Homo sapiens_hsa052110.59081936
75Prion diseases_Homo sapiens_hsa050200.56566005
76Pyruvate metabolism_Homo sapiens_hsa006200.56010184
77Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.55914764
78p53 signaling pathway_Homo sapiens_hsa041150.54616067
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.53309883
80Long-term potentiation_Homo sapiens_hsa047200.53250103
81Glioma_Homo sapiens_hsa052140.50404720
82Axon guidance_Homo sapiens_hsa043600.50292203
83PPAR signaling pathway_Homo sapiens_hsa033200.46268264
84Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46003435
85Rap1 signaling pathway_Homo sapiens_hsa040150.45422409
86Melanogenesis_Homo sapiens_hsa049160.45301082
87cAMP signaling pathway_Homo sapiens_hsa040240.44423433
88Pathways in cancer_Homo sapiens_hsa052000.43330141
89Lysine degradation_Homo sapiens_hsa003100.42656906
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41871240
91Alzheimers disease_Homo sapiens_hsa050100.41077337
92Hedgehog signaling pathway_Homo sapiens_hsa043400.40830737
93Arachidonic acid metabolism_Homo sapiens_hsa005900.40444455
94Fatty acid metabolism_Homo sapiens_hsa012120.40375518
95Pancreatic cancer_Homo sapiens_hsa052120.40250849
96HTLV-I infection_Homo sapiens_hsa051660.39556040
97Wnt signaling pathway_Homo sapiens_hsa043100.39313695
98Gap junction_Homo sapiens_hsa045400.38633278
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38597244
100Renin secretion_Homo sapiens_hsa049240.37223926
101Endometrial cancer_Homo sapiens_hsa052130.36899960
102Estrogen signaling pathway_Homo sapiens_hsa049150.36804443
103Phospholipase D signaling pathway_Homo sapiens_hsa040720.34927321
104Neurotrophin signaling pathway_Homo sapiens_hsa047220.34853718
105TNF signaling pathway_Homo sapiens_hsa046680.34116364
106Cholinergic synapse_Homo sapiens_hsa047250.33365874
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32661801
108Insulin secretion_Homo sapiens_hsa049110.31846970
109Sulfur relay system_Homo sapiens_hsa041220.31494579
110Apoptosis_Homo sapiens_hsa042100.31202246
111Thyroid cancer_Homo sapiens_hsa052160.29794371
112Prostate cancer_Homo sapiens_hsa052150.29639761
113Acute myeloid leukemia_Homo sapiens_hsa052210.28461695
114Glycosaminoglycan degradation_Homo sapiens_hsa005310.27533532
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.26066916
116Pertussis_Homo sapiens_hsa051330.25924835
117Endocytosis_Homo sapiens_hsa041440.25487696
118Pentose phosphate pathway_Homo sapiens_hsa000300.24513047
119Leishmaniasis_Homo sapiens_hsa051400.23812974

Most similar genes based on co-expression Upload to Enrichr

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