VGLL2

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 protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)9.16638561
2skeletal muscle adaptation (GO:0043501)9.00606466
3skeletal muscle fiber development (GO:0048741)8.61482005
4actin filament-based movement (GO:0030048)8.23559996
5myotube cell development (GO:0014904)7.30985040
6striated muscle contraction (GO:0006941)6.64357156
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.61005451
8sarcomere organization (GO:0045214)6.58245481
9response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.33766288
10skeletal muscle tissue regeneration (GO:0043403)6.23796849
11creatine metabolic process (GO:0006600)6.04478253
12pyrimidine ribonucleoside catabolic process (GO:0046133)5.87724160
13glycogen catabolic process (GO:0005980)5.87434044
14cytidine metabolic process (GO:0046087)5.84310028
15cytidine catabolic process (GO:0006216)5.84310028
16cytidine deamination (GO:0009972)5.84310028
17myofibril assembly (GO:0030239)5.83074896
18muscle contraction (GO:0006936)5.81989507
19response to muscle activity (GO:0014850)5.69801420
20regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.60888395
21negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.57675023
22carnitine shuttle (GO:0006853)5.51401100
23glucan catabolic process (GO:0009251)5.49939199
24regulation of cell communication by electrical coupling (GO:0010649)5.46549368
25response to inactivity (GO:0014854)5.41496517
26striated muscle atrophy (GO:0014891)5.40718098
27regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.35075013
28muscle fiber development (GO:0048747)5.25175931
29muscle system process (GO:0003012)5.12944258
30cellular polysaccharide catabolic process (GO:0044247)5.08843900
31purine nucleotide salvage (GO:0032261)5.03356204
32glucan biosynthetic process (GO:0009250)5.01596543
33glycogen biosynthetic process (GO:0005978)5.01596543
34striated muscle adaptation (GO:0014888)4.88772155
35regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.87750195
36polysaccharide catabolic process (GO:0000272)4.80569775
37actomyosin structure organization (GO:0031032)4.68456385
38muscle atrophy (GO:0014889)4.66629454
39IMP metabolic process (GO:0046040)4.65396726
40fatty acid transmembrane transport (GO:1902001)4.60596886
41regulation of actin filament-based movement (GO:1903115)4.49731605
42positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.45450308
43regulation of acyl-CoA biosynthetic process (GO:0050812)4.44743347
44negative regulation of potassium ion transmembrane transport (GO:1901380)4.36061568
45regulation of skeletal muscle cell differentiation (GO:2001014)4.35496507
46NADH metabolic process (GO:0006734)4.29559696
47muscle organ development (GO:0007517)4.23935464
48cardiac muscle hypertrophy (GO:0003300)4.23382135
49glycogen metabolic process (GO:0005977)4.19750523
50muscle structure development (GO:0061061)4.19410655
51muscle cell cellular homeostasis (GO:0046716)4.18550576
52regulation of coenzyme metabolic process (GO:0051196)4.11755119
53regulation of cofactor metabolic process (GO:0051193)4.11755119
54cellular glucan metabolic process (GO:0006073)4.11362508
55glucan metabolic process (GO:0044042)4.11362508
56regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.09073713
57striated muscle hypertrophy (GO:0014897)4.03665492
58carnitine transmembrane transport (GO:1902603)4.02657094
59neuronal action potential propagation (GO:0019227)4.02209208
60striated muscle cell development (GO:0055002)4.02049322
61muscle tissue morphogenesis (GO:0060415)4.00923097
62response to activity (GO:0014823)4.00843361
63regulation of relaxation of muscle (GO:1901077)3.99189296
64muscle organ morphogenesis (GO:0048644)3.94943099
65myoblast fusion (GO:0007520)3.94020415
66muscle adaptation (GO:0043500)3.93824131
67fructose metabolic process (GO:0006000)3.92589547
68negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.86351880
69neuromuscular synaptic transmission (GO:0007274)3.85637628
70positive regulation of myotube differentiation (GO:0010831)3.84122239
71heart contraction (GO:0060047)3.79419937
72heart process (GO:0003015)3.79419937
73myotube differentiation (GO:0014902)3.78890304
74cardiac muscle contraction (GO:0060048)3.78561891
75regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.77300442
76gluconeogenesis (GO:0006094)3.71178777
77tricarboxylic acid cycle (GO:0006099)3.70940127
78cardiac muscle tissue morphogenesis (GO:0055008)3.68622708
79carnitine transport (GO:0015879)3.66255119
80amino-acid betaine transport (GO:0015838)3.66255119
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.66207914
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.66207914
83muscle hypertrophy (GO:0014896)3.58281913
84syncytium formation by plasma membrane fusion (GO:0000768)3.56504561
85syncytium formation (GO:0006949)3.55874475
86* skeletal muscle tissue development (GO:0007519)3.55258850
87negative regulation of muscle hypertrophy (GO:0014741)3.50948213
88regulation of sarcomere organization (GO:0060297)3.48651170
89muscle cell development (GO:0055001)3.48397811
90IMP biosynthetic process (GO:0006188)3.47750508
91cardiac cell development (GO:0055006)3.47067437
922-oxoglutarate metabolic process (GO:0006103)3.46547490
93regulation of calcium ion transmembrane transport (GO:1903169)3.44062089
94regulation of calcium ion transmembrane transporter activity (GO:1901019)3.44062089
95negative regulation of protein localization to cell surface (GO:2000009)3.43251743
96negative regulation of skeletal muscle tissue development (GO:0048642)3.42416037
97* striated muscle tissue development (GO:0014706)3.38514111
98cardiac myofibril assembly (GO:0055003)3.35539946
99neuromuscular junction development (GO:0007528)3.35113927
100cellular response to dexamethasone stimulus (GO:0071549)3.31639961
101hexose biosynthetic process (GO:0019319)3.31526259
102negative regulation of muscle contraction (GO:0045932)3.30197003
103regulation of muscle system process (GO:0090257)3.30076037
104regulation of sulfur metabolic process (GO:0042762)3.29319714
105muscle cell fate commitment (GO:0042693)3.27849742
106regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.27185152
107negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.26588468
108adult heart development (GO:0007512)3.23956597
109regulation of myoblast differentiation (GO:0045661)3.20596965
110regulation of myotube differentiation (GO:0010830)3.18549333
111muscle hypertrophy in response to stress (GO:0003299)3.18463121
112regulation of striated muscle contraction (GO:0006942)3.17199909
113skeletal muscle cell differentiation (GO:0035914)3.17113065
114cardiac muscle cell development (GO:0055013)3.17041306
115cellular carbohydrate catabolic process (GO:0044275)3.16524834
116positive regulation of myoblast differentiation (GO:0045663)3.14468301
117response to dexamethasone (GO:0071548)3.08207653
118positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.07596784
119regulation of membrane repolarization (GO:0060306)3.04990658
120cellular polysaccharide biosynthetic process (GO:0033692)3.04023543
121actin-myosin filament sliding (GO:0033275)13.3362138
122muscle filament sliding (GO:0030049)13.3362138
123regulation of skeletal muscle contraction (GO:0014819)11.8906454
124skeletal muscle contraction (GO:0003009)11.4228201
125actin-mediated cell contraction (GO:0070252)10.9658615
126sarcoplasmic reticulum calcium ion transport (GO:0070296)10.4374232

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.73610357
2ESR1_20079471_ChIP-ChIP_T-47D_Human4.02450014
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.91009557
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.32618619
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.31436840
6ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.96703860
7TBX20_22080862_ChIP-Seq_HEART_Mouse2.75414033
8TBX20_22328084_ChIP-Seq_HEART_Mouse2.75414033
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.71722627
10ZNF263_19887448_ChIP-Seq_K562_Human2.65937302
11RBPJ_22232070_ChIP-Seq_NCS_Mouse2.55413314
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.29267870
13PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.20109415
14BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.18752481
15MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.07320920
16EZH2_22144423_ChIP-Seq_EOC_Human2.06537344
17ZNF274_21170338_ChIP-Seq_K562_Hela2.00586767
18AR_21572438_ChIP-Seq_LNCaP_Human1.91825362
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.91321550
20TRIM28_21343339_ChIP-Seq_HEK293_Human1.88782566
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.84093715
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.74183436
23ESR1_21235772_ChIP-Seq_MCF-7_Human1.73774440
24TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.73353030
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.69515214
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.62487307
27CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.59104416
28ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.58902951
29CLOCK_20551151_ChIP-Seq_293T_Human1.58267985
30CTCF_27219007_Chip-Seq_Bcells_Human1.57169637
31* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.53814049
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.50169148
33PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.49609239
34CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.49365977
35RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.47344021
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.46578761
37NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.36394371
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34746619
39WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.33976845
40DNAJC2_21179169_ChIP-ChIP_NT2_Human1.33601110
41TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32481606
42SMC1_22415368_ChIP-Seq_MEFs_Mouse1.29575982
43KDM2B_26808549_Chip-Seq_DND41_Human1.28651184
44SMC3_22415368_ChIP-Seq_MEFs_Mouse1.27999460
45SA1_27219007_Chip-Seq_Bcells_Human1.26582469
46* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.26211849
47CTCF_21964334_Chip-Seq_Bcells_Human1.26144918
48FOXH1_21741376_ChIP-Seq_ESCs_Human1.23769735
49GATA4_21415370_ChIP-Seq_HL-1_Mouse1.21529631
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.18587896
51CBP_20019798_ChIP-Seq_JUKART_Human1.17764631
52IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17764631
53* CRX_20693478_ChIP-Seq_RETINA_Mouse1.16983505
54* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.16551453
55IGF1R_20145208_ChIP-Seq_DFB_Human1.16004372
56UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.15958449
57DROSHA_22980978_ChIP-Seq_HELA_Human1.13441010
58NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.12962200
59ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.12361738
60PCGF2_27294783_Chip-Seq_ESCs_Mouse1.11942488
61RACK7_27058665_Chip-Seq_MCF-7_Human1.10587854
62P300_27058665_Chip-Seq_ZR-75-30cells_Human1.09705948
63NFIB_24661679_ChIP-Seq_LUNG_Mouse1.09582424
64OCT4_20526341_ChIP-Seq_ESCs_Human1.08142391
65P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08106042
66HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.07968007
67CTCF_27219007_Chip-Seq_ERYTHROID_Human1.07886662
68CJUN_26792858_Chip-Seq_BT549_Human1.07362984
69TDRD3_21172665_ChIP-Seq_MCF-7_Human1.07124585
70ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.06797169
71CREB1_26743006_Chip-Seq_LNCaP_Human1.06583027
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.06551841
73STAT1_20625510_ChIP-Seq_HELA_Human1.05931064
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05002392
75FLI1_27457419_Chip-Seq_LIVER_Mouse1.03865415
76* EZH2_27294783_Chip-Seq_ESCs_Mouse1.03678180
77ATF3_27146783_Chip-Seq_COLON_Human1.02991249
78* TP53_20018659_ChIP-ChIP_R1E_Mouse1.02807224
79LXR_22292898_ChIP-Seq_THP-1_Human1.02754738
80TCF7_22412390_ChIP-Seq_EML_Mouse1.02295196
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.02018047
82* EZH2_27294783_Chip-Seq_NPCs_Mouse1.01966215
83KDM2B_26808549_Chip-Seq_SUP-B15_Human1.01341660
84NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.01324022
85* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01258453
86NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.00968118
87NRF2_20460467_ChIP-Seq_MEFs_Mouse1.00968118
88STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.00698221
89GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.00441413
90HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99922625
91PPARA_22158963_ChIP-Seq_LIVER_Mouse0.99879705
92* RARB_27405468_Chip-Seq_BRAIN_Mouse0.99873044
93FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.99605170
94* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98202841
95KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95594061
96SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.95467617
97ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93873031
98PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.93845253
99STAT6_21828071_ChIP-Seq_BEAS2B_Human0.93553673
100PPAR_26484153_Chip-Seq_NCI-H1993_Human0.91410829
101ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.91305404
102KDM2B_26808549_Chip-Seq_K562_Human0.91217797
103TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90831227
104LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.90418710
105MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.89850067
106ESR1_15608294_ChIP-ChIP_MCF-7_Human0.89677275
107YY1_22570637_ChIP-Seq_MALME-3M_Human0.89164683
108* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.88444687
109* CBX2_27304074_Chip-Seq_ESCs_Mouse0.87919193
110SPI1_20517297_ChIP-Seq_HL60_Human0.87677250
111P53_22127205_ChIP-Seq_FIBROBLAST_Human0.87199614
112RAD21_21589869_ChIP-Seq_MESCs_Mouse0.87028187
113RXR_22158963_ChIP-Seq_LIVER_Mouse0.86781731
114STAT3_1855785_ChIP-Seq_MESCs_Mouse0.86353547
115EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85869384
116WT1_19549856_ChIP-ChIP_CCG9911_Human0.85838352
117RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85809624
118RAC3_21632823_ChIP-Seq_H3396_Human0.84548582
119* MYC_27129775_Chip-Seq_CORNEA_Mouse0.84182930
120* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.84094751
121KLF4_19829295_ChIP-Seq_ESCs_Human0.82774446
122AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.82334631
123TP63_22573176_ChIP-Seq_HFKS_Human0.81913064
124SMAD4_21741376_ChIP-Seq_EPCs_Human0.81062211
125AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79685099
126EGR1_19032775_ChIP-ChIP_M12_Human0.79172815
127GATA6_21074721_ChIP-Seq_CACO-2_Human0.77336329
128CTCF_26484167_Chip-Seq_Bcells_Mouse0.77295672
129SMAD3_21741376_ChIP-Seq_HESCs_Human0.77106616
130HTT_18923047_ChIP-ChIP_STHdh_Human0.76102129
131SOX2_21211035_ChIP-Seq_LN229_Gbm0.76066482
132DPY_21335234_ChIP-Seq_ESCs_Mouse0.75273720
133KLF5_20875108_ChIP-Seq_MESCs_Mouse0.74467586
134ERG_21242973_ChIP-ChIP_JURKAT_Human0.71791748
135NFI_21473784_ChIP-Seq_ESCs_Mouse0.69470334
136CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.69154650
137LXR_22158963_ChIP-Seq_LIVER_Mouse0.68168992
138SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.67548450
139GATA3_21867929_ChIP-Seq_CD8_Mouse0.67354308
140LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.67148653

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.80554043
2MP0000749_muscle_degeneration6.46661353
3MP0003646_muscle_fatigue6.01340101
4MP0000751_myopathy5.97886404
5MP0000747_muscle_weakness4.56135629
6MP0002106_abnormal_muscle_physiology4.28157908
7MP0000759_abnormal_skeletal_muscle3.88666412
8MP0004036_abnormal_muscle_relaxation3.82235615
9MP0000750_abnormal_muscle_regeneration3.63986257
10MP0002837_dystrophic_cardiac_calcinosis3.63117874
11MP0002269_muscular_atrophy3.57060644
12MP0005369_muscle_phenotype3.55807559
13MP0004087_abnormal_muscle_fiber3.50384763
14MP0005451_abnormal_body_composition3.05485467
15MP0004130_abnormal_muscle_cell3.05452195
16MP0005620_abnormal_muscle_contractility2.99108377
17MP0004233_abnormal_muscle_weight2.92701400
18MP0000733_abnormal_muscle_development2.79575843
19MP0002332_abnormal_exercise_endurance2.09167805
20MP0002108_abnormal_muscle_morphology2.06482183
21MP0005330_cardiomyopathy1.98839871
22MP0004084_abnormal_cardiac_muscle1.75242492
23MP0006036_abnormal_mitochondrial_physio1.72807855
24MP0004270_analgesia1.65982910
25MP0004185_abnormal_adipocyte_glucose1.53568635
26MP0004215_abnormal_myocardial_fiber1.43372932
27MP0002971_abnormal_brown_adipose1.39097754
28MP0004484_altered_response_of1.36811413
29MP0002972_abnormal_cardiac_muscle1.33185043
30MP0003950_abnormal_plasma_membrane1.29454838
31MP0005666_abnormal_adipose_tissue1.29141520
32MP0010630_abnormal_cardiac_muscle1.24612875
33MP0003221_abnormal_cardiomyocyte_apopto1.15260153
34MP0002234_abnormal_pharynx_morphology1.04025823
35MP0009780_abnormal_chondrocyte_physiolo1.02502659
36MP0000013_abnormal_adipose_tissue1.01156786
37MP0005375_adipose_tissue_phenotype0.99614425
38MP0002822_catalepsy0.98566259
39MP0005266_abnormal_metabolism0.97442156
40MP0003705_abnormal_hypodermis_morpholog0.96161551
41MP0001299_abnormal_eye_distance/0.95971449
42MP0001544_abnormal_cardiovascular_syste0.91503667
43MP0005385_cardiovascular_system_phenoty0.91503667
44MP0001661_extended_life_span0.91250458
45MP0006035_abnormal_mitochondrial_morpho0.88468933
46MP0003806_abnormal_nucleotide_metabolis0.88419795
47MP0009250_abnormal_appendicular_skeleto0.88325036
48MP0004134_abnormal_chest_morphology0.85957341
49MP0003137_abnormal_impulse_conducting0.85009428
50MP0004147_increased_porphyrin_level0.73814046
51MP0000762_abnormal_tongue_morphology0.68170044
52MP0000003_abnormal_adipose_tissue0.62148673
53MP0003656_abnormal_erythrocyte_physiolo0.61441751
54MP0010030_abnormal_orbit_morphology0.60845967
55MP0003879_abnormal_hair_cell0.58040153
56MP0008961_abnormal_basal_metabolism0.57005841
57MP0000266_abnormal_heart_morphology0.56671615
58MP0004043_abnormal_pH_regulation0.56136342
59MP0000372_irregular_coat_pigmentation0.55885517
60MP0002896_abnormal_bone_mineralization0.55575542
61MP0008775_abnormal_heart_ventricle0.54442957
62MP0006138_congestive_heart_failure0.52737255
63MP0002078_abnormal_glucose_homeostasis0.52305898
64MP0002127_abnormal_cardiovascular_syste0.52107802
65MP0005334_abnormal_fat_pad0.51577705
66MP0003959_abnormal_lean_body0.48485419
67MP0002114_abnormal_axial_skeleton0.46062211
68MP0005452_abnormal_adipose_tissue0.45108871
69MP0008569_lethality_at_weaning0.44590436
70MP0000343_altered_response_to0.43442688
71MP0002089_abnormal_postnatal_growth/wei0.42742845
72MP0003045_fibrosis0.42522392
73MP0005670_abnormal_white_adipose0.40513193
74MP0005275_abnormal_skin_tensile0.37681829
75MP0005083_abnormal_biliary_tract0.36540797
76MP0001849_ear_inflammation0.36473410
77MP0009672_abnormal_birth_weight0.36112083
78MP0008438_abnormal_cutaneous_collagen0.36016740
79MP0003828_pulmonary_edema0.35122542
80MP0005584_abnormal_enzyme/coenzyme_acti0.34919627
81MP0003385_abnormal_body_wall0.34149948
82MP0003948_abnormal_gas_homeostasis0.33573650
83MP0003567_abnormal_fetal_cardiomyocyte0.32802892
84MP0002249_abnormal_larynx_morphology0.32273570
85MP0004510_myositis0.31506365
86MP0005319_abnormal_enzyme/_coenzyme0.30699743
87MP0002932_abnormal_joint_morphology0.30120777
88MP0004085_abnormal_heartbeat0.29901041
89MP0003755_abnormal_palate_morphology0.29432657
90MP0001943_abnormal_respiration0.28800047
91MP0005165_increased_susceptibility_to0.28561688
92MP0002128_abnormal_blood_circulation0.27359261
93MP0005166_decreased_susceptibility_to0.27196421
94MP0004858_abnormal_nervous_system0.26871694
95MP0005623_abnormal_meninges_morphology0.26117153
96MP0009115_abnormal_fat_cell0.25867741
97MP0005535_abnormal_body_temperature0.25300394
98MP0005167_abnormal_blood-brain_barrier0.25103610
99MP0002638_abnormal_pupillary_reflex0.25057142
100MP0005503_abnormal_tendon_morphology0.24215821
101MP0005187_abnormal_penis_morphology0.23936925
102MP0005423_abnormal_somatic_nervous0.23246596
103MP0004142_abnormal_muscle_tone0.23027904
104MP0000230_abnormal_systemic_arterial0.21480971
105MP0001243_abnormal_dermal_layer0.21428533
106MP0001542_abnormal_bone_strength0.21384235
107MP0005332_abnormal_amino_acid0.21284961
108MP0004197_abnormal_fetal_growth/weight/0.20998910
109MP0000767_abnormal_smooth_muscle0.20804713
110MP0008770_decreased_survivor_rate0.20587352
111MP0001346_abnormal_lacrimal_gland0.20396484
112MP0002066_abnormal_motor_capabilities/c0.20291331
113MP0001440_abnormal_grooming_behavior0.20007536
114MP0003279_aneurysm0.19596127
115MP0002734_abnormal_mechanical_nocicepti0.19376256
116MP0005376_homeostasis/metabolism_phenot0.18862069
117MP0005595_abnormal_vascular_smooth0.18127903

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)9.99928855
2Type 1 muscle fiber predominance (HP:0003803)8.18305517
3Exercise-induced myalgia (HP:0003738)7.77790300
4Exercise-induced muscle cramps (HP:0003710)7.01184606
5Distal arthrogryposis (HP:0005684)6.93488670
6Myopathic facies (HP:0002058)6.63288414
7Muscle hypertrophy of the lower extremities (HP:0008968)6.47104572
8Calf muscle hypertrophy (HP:0008981)5.82357565
9Round ear (HP:0100830)5.67263323
10Ulnar deviation of the wrist (HP:0003049)5.45080728
11Difficulty running (HP:0009046)5.34518846
12Muscle fiber splitting (HP:0003555)5.25249662
13Calcaneovalgus deformity (HP:0001848)4.83354684
14EMG: myopathic abnormalities (HP:0003458)4.69934489
15Hyporeflexia of lower limbs (HP:0002600)4.64965852
16Absent phalangeal crease (HP:0006109)4.53268321
17Myoglobinuria (HP:0002913)4.52947225
18Muscle stiffness (HP:0003552)4.41632380
19Deformed tarsal bones (HP:0008119)4.34790746
20Increased connective tissue (HP:0009025)4.28950053
21Abnormality of the calf musculature (HP:0001430)4.26726541
22Abnormality of skeletal muscle fiber size (HP:0012084)4.11133985
23Myotonia (HP:0002486)3.83519581
24Rhabdomyolysis (HP:0003201)3.82312216
25Abnormal finger flexion creases (HP:0006143)3.79900444
26Malignant hyperthermia (HP:0002047)3.78406929
27Neck muscle weakness (HP:0000467)3.76476943
28Difficulty climbing stairs (HP:0003551)3.67656364
29Increased variability in muscle fiber diameter (HP:0003557)3.56703297
30Rimmed vacuoles (HP:0003805)3.50013542
31Shoulder girdle muscle weakness (HP:0003547)3.36404458
32Pelvic girdle muscle weakness (HP:0003749)3.36336513
33Frequent falls (HP:0002359)3.29563598
34Abnormality of the musculature of the pelvis (HP:0001469)3.25306973
35Abnormality of the hip-girdle musculature (HP:0001445)3.25306973
36Subaortic stenosis (HP:0001682)3.21167239
37Abnormality of the left ventricular outflow tract (HP:0011103)3.21167239
38Areflexia of lower limbs (HP:0002522)3.00953181
39Abnormality of the neuromuscular junction (HP:0003398)2.96699213
40Fatigable weakness (HP:0003473)2.96699213
41Abnormality of the calcaneus (HP:0008364)2.92862057
42Slender build (HP:0001533)2.81195612
43Mildly elevated creatine phosphokinase (HP:0008180)2.73835292
44Bundle branch block (HP:0011710)2.69283612
45Asymmetric septal hypertrophy (HP:0001670)2.65553849
46Fetal akinesia sequence (HP:0001989)2.65527173
47Hyperkalemia (HP:0002153)2.58429795
48Weak cry (HP:0001612)2.54476921
49Amniotic constriction ring (HP:0009775)2.53480209
50Abnormality of placental membranes (HP:0011409)2.53480209
51Bulbar palsy (HP:0001283)2.52357331
52Centrally nucleated skeletal muscle fibers (HP:0003687)2.51819598
53Gowers sign (HP:0003391)2.49381477
54Distal lower limb amyotrophy (HP:0008944)2.48198221
55Generalized muscle weakness (HP:0003324)2.46081658
56Spinal rigidity (HP:0003306)2.45958169
57EMG: neuropathic changes (HP:0003445)2.44695395
58Distal lower limb muscle weakness (HP:0009053)2.42683457
59Sudden death (HP:0001699)2.38660692
60Scapular winging (HP:0003691)2.38109039
61Proximal amyotrophy (HP:0007126)2.36695656
62Limb-girdle muscle weakness (HP:0003325)2.36200248
63Muscular dystrophy (HP:0003560)2.34421312
64Progressive muscle weakness (HP:0003323)2.32246862
65Facial diplegia (HP:0001349)2.30689849
66Abnormality of the shoulder girdle musculature (HP:0001435)2.26966871
67Nonprogressive disorder (HP:0003680)2.23762096
68Limb-girdle muscle atrophy (HP:0003797)2.20764518
69Paralysis (HP:0003470)2.13095900
70Hip contracture (HP:0003273)2.12323357
71Hypoplastic ischia (HP:0003175)2.03151226
72Muscle fiber inclusion bodies (HP:0100299)11.2184758
73Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.6027963
74Ulnar deviation of finger (HP:0009465)1.96793739
75Achilles tendon contracture (HP:0001771)1.94619994
76Waddling gait (HP:0002515)1.92794659
77Type 2 muscle fiber atrophy (HP:0003554)1.91354002
78Lower limb amyotrophy (HP:0007210)1.89406497
79Metatarsus adductus (HP:0001840)1.85715655
80Aplasia of the musculature (HP:0100854)1.85399057
81Respiratory insufficiency due to muscle weakness (HP:0002747)1.80407042
82Abnormality of the ischium (HP:0003174)1.76887792
83Abnormality of the Achilles tendon (HP:0005109)1.76507600
84Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.76321717
85Muscle fiber atrophy (HP:0100295)1.73431064
86Heart block (HP:0012722)1.71776854
87Breech presentation (HP:0001623)1.67706997
88Increased density of long bones (HP:0006392)1.65291958
89Exercise intolerance (HP:0003546)1.62220407
90Abnormal atrioventricular conduction (HP:0005150)1.62133541
91Congenital hip dislocation (HP:0001374)1.60092828
92Thin ribs (HP:0000883)1.56898639
93Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.56677947
94Short palpebral fissure (HP:0012745)1.53014585
95Easy fatigability (HP:0003388)1.52596288
96Ventricular arrhythmia (HP:0004308)1.52156981
97Tarsal synostosis (HP:0008368)1.51239665
98Long clavicles (HP:0000890)1.50592856
99Ventricular tachycardia (HP:0004756)1.49823063
100Adducted thumb (HP:0001181)1.46145021
101Limited hip movement (HP:0008800)1.44887641
102Lipoatrophy (HP:0100578)1.43707612
103Dilated cardiomyopathy (HP:0001644)1.43344774
104Foot dorsiflexor weakness (HP:0009027)1.43123635
105Ragged-red muscle fibers (HP:0003200)1.41640664
106Pterygium (HP:0001059)1.40824283
107Abnormality of the foot musculature (HP:0001436)1.39012359
108Popliteal pterygium (HP:0009756)1.37119503
109Cholelithiasis (HP:0001081)1.36682176
110Synostosis involving bones of the lower limbs (HP:0009138)1.35306145
111Synostosis involving bones of the feet (HP:0009140)1.35306145
112Stridor (HP:0010307)1.34813228
113Akinesia (HP:0002304)1.32463425

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.20978800
2PHKG14.70352129
3PHKG24.70352129
4PIK3CG4.14638766
5NME13.87189271
6MAP2K32.65412369
7MUSK2.11221071
8NEK12.08394457
9MAP3K72.03272583
10OBSCN10.2190979
11PINK11.84911570
12PDK41.80566184
13PDK31.80566184
14DMPK1.78719896
15TRIB31.68364808
16MAPK121.51934102
17MAP2K41.48976351
18BCKDK1.35918637
19CCNB11.35633609
20PDK21.20695772
21PIK3CA1.17403866
22MAP2K61.12568717
23MARK10.95921134
24MAP3K30.87619742
25NEK90.81895672
26PKN20.77408059
27ERBB30.74103428
28AKT20.71085789
29TAOK20.70542100
30PRKAA10.70278437
31MAPKAPK30.70221908
32PRKAA20.69077057
33RIPK10.69017187
34EPHB10.60506070
35TRPM70.60453077
36MOS0.60424176
37MAPK110.59664629
38LIMK10.58895824
39MAP3K130.57784511
40CAMK2G0.53564954
41STK240.52631776
42MAP3K110.49157969
43CAMK40.47814069
44ILK0.47396486
45SIK10.47278411
46TAOK10.47011708
47ZAK0.42683643
48CAMK2B0.41389454
49CDK190.40841889
50MAP3K100.37111996
51PTK60.36363268
52FGFR40.35145167
53CAMK10.34666622
54EEF2K0.34156735
55ROCK10.33200426
56LATS20.29933579
57RPS6KB20.27837134
58SGK10.27809504
59MAP3K60.26933322
60LATS10.26716365
61PRKACB0.26070390
62RPS6KB10.25242548
63PAK60.24916225
64PRKG10.24865108
65RPS6KA30.24569622
66BMX0.24332212
67MAP3K50.24180212
68TBK10.24153310
69KSR20.23321147
70SGK20.23201682
71PKN10.22916670
72ICK0.19834357
73MAP3K10.19682956
74ARAF0.19195447
75MAP2K10.18721857
76MAPK130.18607629
77MAPK40.15887414
78ROCK20.15825567
79DAPK20.15642541
80MTOR0.15029873
81PDPK10.15017376
82PRKACA0.14601124
83MARK20.13253752
84PRKD10.12426910
85MAPK70.12357847
86FGFR10.10943176
87DYRK1B0.10633791
88LRRK20.10530683
89CAMK2D0.09902019
90PDK10.09697206
91MARK30.09087079
92PRPF4B0.08844365
93PRKG20.08049697
94MAPK100.07860696
95RPS6KL10.07421548
96RPS6KC10.07421548
97PDGFRA0.07161022
98TIE10.06958787
99MAP3K40.06070812
100SGK4940.05727826
101SGK2230.05727826
102DDR20.04988628
103ZAP700.04949224
104FER0.04915214
105RAF10.04387419
106KSR10.04249019
107DAPK30.04156036
108MAPK80.04071838
109RPS6KA10.03995983
110CAMK1G0.03410798
111STK110.03362162
112RPS6KA60.03274372
113TGFBR20.02928625
114SGK30.02576751
115CDK80.02487669
116EPHA30.02307494
117GSK3A0.02275370
118CSNK1D0.02210791
119GSK3B0.02153195
120INSRR0.01867247
121WNK10.01434028
122RET0.01165724
123MAPK90.00888230
124PRKACG0.00642464
125CAMK2A0.00427407
126PTK2B0.00313497
127RPS6KA2-0.0042875
128CDK6-0.0024555

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.53440242
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.35568731
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.89423168
4Dilated cardiomyopathy_Homo sapiens_hsa054143.81458070
5Cardiac muscle contraction_Homo sapiens_hsa042603.66761489
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.37348126
7Starch and sucrose metabolism_Homo sapiens_hsa005002.84747418
8Propanoate metabolism_Homo sapiens_hsa006402.31593672
9Glucagon signaling pathway_Homo sapiens_hsa049222.27559285
10Insulin signaling pathway_Homo sapiens_hsa049102.22877091
11Oxytocin signaling pathway_Homo sapiens_hsa049212.18897475
12Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.15563859
13Circadian rhythm_Homo sapiens_hsa047102.12922396
14Carbon metabolism_Homo sapiens_hsa012002.08738599
15Insulin resistance_Homo sapiens_hsa049312.00804461
16Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.88378230
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.83224698
18Parkinsons disease_Homo sapiens_hsa050121.69371094
19Viral myocarditis_Homo sapiens_hsa054161.68240885
20Adipocytokine signaling pathway_Homo sapiens_hsa049201.67834788
21AMPK signaling pathway_Homo sapiens_hsa041521.61815293
22Alzheimers disease_Homo sapiens_hsa050101.52615450
23Galactose metabolism_Homo sapiens_hsa000521.52069090
24Calcium signaling pathway_Homo sapiens_hsa040201.49041250
25Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.48568792
26Tight junction_Homo sapiens_hsa045301.47948346
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.42152246
28Biosynthesis of amino acids_Homo sapiens_hsa012301.39682621
29Oxidative phosphorylation_Homo sapiens_hsa001901.39245681
30Fatty acid degradation_Homo sapiens_hsa000711.38386863
31Pyruvate metabolism_Homo sapiens_hsa006201.36529979
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.29122527
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.27733046
34Focal adhesion_Homo sapiens_hsa045101.22540317
35Fructose and mannose metabolism_Homo sapiens_hsa000511.20618410
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11805685
37Arginine and proline metabolism_Homo sapiens_hsa003301.11128140
38Vascular smooth muscle contraction_Homo sapiens_hsa042701.04096430
39GnRH signaling pathway_Homo sapiens_hsa049121.01588267
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.00337232
41Fatty acid metabolism_Homo sapiens_hsa012120.98757998
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96706290
43Central carbon metabolism in cancer_Homo sapiens_hsa052300.94379172
44FoxO signaling pathway_Homo sapiens_hsa040680.93988921
45Gastric acid secretion_Homo sapiens_hsa049710.89983417
46Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81778070
47Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.81403243
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.78741469
49MAPK signaling pathway_Homo sapiens_hsa040100.78229941
50Phenylalanine metabolism_Homo sapiens_hsa003600.77014995
51Arginine biosynthesis_Homo sapiens_hsa002200.76714660
52HIF-1 signaling pathway_Homo sapiens_hsa040660.76042277
53mTOR signaling pathway_Homo sapiens_hsa041500.75088310
54Pentose phosphate pathway_Homo sapiens_hsa000300.74808409
55Huntingtons disease_Homo sapiens_hsa050160.67087325
56VEGF signaling pathway_Homo sapiens_hsa043700.67061213
57Renin secretion_Homo sapiens_hsa049240.66137123
58Proteoglycans in cancer_Homo sapiens_hsa052050.65106398
59Regulation of actin cytoskeleton_Homo sapiens_hsa048100.56730884
60Fatty acid biosynthesis_Homo sapiens_hsa000610.54684130
61Platelet activation_Homo sapiens_hsa046110.54396871
62Amoebiasis_Homo sapiens_hsa051460.53632134
63Insulin secretion_Homo sapiens_hsa049110.50318625
64Adherens junction_Homo sapiens_hsa045200.48818010
65Leukocyte transendothelial migration_Homo sapiens_hsa046700.48803375
66Type II diabetes mellitus_Homo sapiens_hsa049300.47293403
67Fatty acid elongation_Homo sapiens_hsa000620.45351789
68Salivary secretion_Homo sapiens_hsa049700.43713192
69Renal cell carcinoma_Homo sapiens_hsa052110.43195519
70PPAR signaling pathway_Homo sapiens_hsa033200.43012202
71ECM-receptor interaction_Homo sapiens_hsa045120.39486966
72Butanoate metabolism_Homo sapiens_hsa006500.37802837
73Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.36291930
74Dorso-ventral axis formation_Homo sapiens_hsa043200.35514433
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.34882030
76Long-term depression_Homo sapiens_hsa047300.34069670
77Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.33791633
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.31565352
79Lysine degradation_Homo sapiens_hsa003100.30639193
80AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.30538062
81Tryptophan metabolism_Homo sapiens_hsa003800.30212902
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.29780082
83Histidine metabolism_Homo sapiens_hsa003400.28511634
84Amphetamine addiction_Homo sapiens_hsa050310.26034968
85Peroxisome_Homo sapiens_hsa041460.24757988
86Cholinergic synapse_Homo sapiens_hsa047250.24651670
87cAMP signaling pathway_Homo sapiens_hsa040240.23342985
88Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22528517
89Purine metabolism_Homo sapiens_hsa002300.21998651
90beta-Alanine metabolism_Homo sapiens_hsa004100.21875368
91Melanogenesis_Homo sapiens_hsa049160.21016689
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.20277501
93Basal cell carcinoma_Homo sapiens_hsa052170.18799930
94Gap junction_Homo sapiens_hsa045400.17651365
95Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.17391289
96Regulation of autophagy_Homo sapiens_hsa041400.15360106
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14520584
98Circadian entrainment_Homo sapiens_hsa047130.14345330
99Prolactin signaling pathway_Homo sapiens_hsa049170.14327713
100Salmonella infection_Homo sapiens_hsa051320.14025343
101Neurotrophin signaling pathway_Homo sapiens_hsa047220.13549737
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.13322799
103Oocyte meiosis_Homo sapiens_hsa041140.13277642
104Thyroid cancer_Homo sapiens_hsa052160.12088412
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.09011141
106Tyrosine metabolism_Homo sapiens_hsa003500.08797823
107Long-term potentiation_Homo sapiens_hsa047200.08510024
108Chronic myeloid leukemia_Homo sapiens_hsa052200.08221530
109Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.07885326
110Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.07423126
111Bile secretion_Homo sapiens_hsa049760.07258155
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.06780206
113Pancreatic secretion_Homo sapiens_hsa049720.06534009
114Glioma_Homo sapiens_hsa052140.06195712
115Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.05746911
116Acute myeloid leukemia_Homo sapiens_hsa052210.04974283
117Thyroid hormone signaling pathway_Homo sapiens_hsa049190.04960950
118Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.04696275
119Nitrogen metabolism_Homo sapiens_hsa009100.03991455
120Sulfur metabolism_Homo sapiens_hsa009200.03875310

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »