ANKRD2

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 that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle fiber development (GO:0048741)8.95622823
2actin filament-based movement (GO:0030048)8.67197313
3skeletal muscle tissue regeneration (GO:0043403)8.60000867
4skeletal muscle adaptation (GO:0043501)8.00384570
5myotube cell development (GO:0014904)7.57679485
6muscle cell fate commitment (GO:0042693)7.21141804
7striated muscle contraction (GO:0006941)6.96199563
8response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.53871763
9regulation of actin filament-based movement (GO:1903115)6.24653792
10sarcomere organization (GO:0045214)6.22802360
11negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.94342123
12* muscle contraction (GO:0006936)5.90529888
13creatine metabolic process (GO:0006600)5.80365547
14response to inactivity (GO:0014854)5.75006870
15cardiac muscle hypertrophy (GO:0003300)5.62240982
16myofibril assembly (GO:0030239)5.57273555
17pyrimidine ribonucleoside catabolic process (GO:0046133)5.55323401
18cytidine deamination (GO:0009972)5.48719371
19cytidine metabolic process (GO:0046087)5.48719371
20cytidine catabolic process (GO:0006216)5.48719371
21NADH metabolic process (GO:0006734)5.47450241
22positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.33627078
23muscle fiber development (GO:0048747)5.31674178
24* muscle system process (GO:0003012)5.17491760
25cardiac muscle tissue morphogenesis (GO:0055008)5.01760561
26regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.95697160
27striated muscle atrophy (GO:0014891)4.89545678
28adult heart development (GO:0007512)4.80768465
29muscle hypertrophy (GO:0014896)4.75503403
30regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.74019253
31skeletal muscle tissue development (GO:0007519)4.72232691
32regulation of cell communication by electrical coupling (GO:0010649)4.71123925
33regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.68696213
34striated muscle adaptation (GO:0014888)4.65006809
35actomyosin structure organization (GO:0031032)4.58857285
36negative regulation of potassium ion transmembrane transport (GO:1901380)4.58029537
37regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.57084402
38carnitine shuttle (GO:0006853)4.54817161
39response to muscle activity (GO:0014850)4.50845835
40cardiac muscle cell development (GO:0055013)4.50818484
41heart process (GO:0003015)4.47683288
42heart contraction (GO:0060047)4.47683288
43purine nucleotide salvage (GO:0032261)4.44402993
44myotube differentiation (GO:0014902)4.38466442
45regulation of the force of heart contraction (GO:0002026)4.35646990
46glycogen biosynthetic process (GO:0005978)4.34226896
47glucan biosynthetic process (GO:0009250)4.34226896
48muscle atrophy (GO:0014889)4.24397990
49regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.20280645
50cardiac cell development (GO:0055006)4.18542516
51regulation of acyl-CoA biosynthetic process (GO:0050812)4.18451656
52regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.17312505
53positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.16699995
542-oxoglutarate metabolic process (GO:0006103)4.15210205
55glycogen catabolic process (GO:0005980)4.11988598
56positive regulation of myotube differentiation (GO:0010831)4.11348690
57muscle cell cellular homeostasis (GO:0046716)4.09488156
58cardiac muscle hypertrophy in response to stress (GO:0014898)4.09089325
59muscle hypertrophy in response to stress (GO:0003299)4.09089325
60cardiac muscle adaptation (GO:0014887)4.09089325
61regulation of skeletal muscle cell differentiation (GO:2001014)4.08582691
62striated muscle cell development (GO:0055002)3.99039396
63fatty acid transmembrane transport (GO:1902001)3.99011410
64positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.97234574
65regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.84893842
66glucan catabolic process (GO:0009251)3.84806335
67ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.84573665
68regulation of relaxation of muscle (GO:1901077)3.81907627
69muscle adaptation (GO:0043500)3.79239780
70regulation of cofactor metabolic process (GO:0051193)3.78288764
71regulation of coenzyme metabolic process (GO:0051196)3.78288764
72* muscle organ development (GO:0007517)3.77257080
73* muscle structure development (GO:0061061)3.71536700
74regulation of p38MAPK cascade (GO:1900744)3.71302724
75cardiac muscle contraction (GO:0060048)3.65808040
76myoblast fusion (GO:0007520)3.65499461
77cardiac myofibril assembly (GO:0055003)3.64585993
78tricarboxylic acid cycle (GO:0006099)3.60418774
79IMP metabolic process (GO:0046040)3.59724695
80regulation of ATPase activity (GO:0043462)3.56021320
81regulation of ATP catabolic process (GO:1903289)3.56021320
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.54646699
83negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.54646699
84regulation of sequestering of triglyceride (GO:0010889)3.52483639
85cellular polysaccharide catabolic process (GO:0044247)3.52307352
86gluconeogenesis (GO:0006094)3.52139590
87positive regulation of myoblast differentiation (GO:0045663)3.48736515
88glycogen metabolic process (GO:0005977)3.47199191
89neuromuscular synaptic transmission (GO:0007274)3.46282507
90regulation of muscle contraction (GO:0006937)3.45517028
91response to activity (GO:0014823)3.45188787
92negative regulation of necroptotic process (GO:0060546)3.44657272
93regulation of muscle system process (GO:0090257)3.43219753
94negative regulation of muscle contraction (GO:0045932)3.42252333
95positive regulation of cation channel activity (GO:2001259)3.41946565
96muscle cell development (GO:0055001)3.40526499
97glucan metabolic process (GO:0044042)3.40104387
98cellular glucan metabolic process (GO:0006073)3.40104387
99negative regulation of cAMP-mediated signaling (GO:0043951)3.38950878
100neuromuscular junction development (GO:0007528)3.38261537
101carnitine transmembrane transport (GO:1902603)3.37516247
102* skeletal muscle cell differentiation (GO:0035914)3.37457022
103polysaccharide catabolic process (GO:0000272)3.35480315
104membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.30858142
105syncytium formation by plasma membrane fusion (GO:0000768)3.28280260
106negative regulation of protein localization to cell surface (GO:2000009)3.23083869
107oxaloacetate metabolic process (GO:0006107)3.22544399
108syncytium formation (GO:0006949)3.21228865
109otic vesicle formation (GO:0030916)3.21013894
110ventricular cardiac muscle cell action potential (GO:0086005)3.20080485
111regulation of sulfur metabolic process (GO:0042762)3.10748218
112regulation of striated muscle contraction (GO:0006942)3.08380978
113carnitine transport (GO:0015879)3.07714376
114amino-acid betaine transport (GO:0015838)3.07714376
115positive regulation of p38MAPK cascade (GO:1900745)3.07084599
116regulation of calcium ion transmembrane transporter activity (GO:1901019)3.06662841
117regulation of calcium ion transmembrane transport (GO:1903169)3.06662841
118tissue regeneration (GO:0042246)3.06558058
119striated muscle tissue development (GO:0014706)3.06467699
120negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.05186951
121regulation of membrane repolarization (GO:0060306)3.03961054
122negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.02132645
123negative regulation of muscle hypertrophy (GO:0014741)2.95912090
124muscle tissue morphogenesis (GO:0060415)2.95841880
125IMP biosynthetic process (GO:0006188)2.91157536
126striated muscle hypertrophy (GO:0014897)2.85121543
127muscle filament sliding (GO:0030049)14.1044075
128actin-myosin filament sliding (GO:0033275)14.1044075
129skeletal muscle contraction (GO:0003009)12.4935635
130actin-mediated cell contraction (GO:0070252)11.5386757
131sarcoplasmic reticulum calcium ion transport (GO:0070296)11.0316173
132plasma membrane repair (GO:0001778)10.6535377
133regulation of skeletal muscle contraction (GO:0014819)10.1397482

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.32121482
2EZH2_22144423_ChIP-Seq_EOC_Human4.77761387
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.63587146
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.43162436
5ESR1_20079471_ChIP-ChIP_T-47D_Human3.42234056
6TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.96589918
7RARG_19884340_ChIP-ChIP_MEFs_Mouse2.87024837
8ESR1_21235772_ChIP-Seq_MCF-7_Human2.62837633
9* TBX20_22080862_ChIP-Seq_HEART_Mouse2.60234138
10* TBX20_22328084_ChIP-Seq_HEART_Mouse2.60234138
11ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.48241171
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.46991584
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.33652249
14RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.25730232
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.24791146
16ZNF263_19887448_ChIP-Seq_K562_Human2.23044600
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.21185981
18CLOCK_20551151_ChIP-Seq_293T_Human2.16790522
19DNAJC2_21179169_ChIP-ChIP_NT2_Human1.86278621
20EP300_21415370_ChIP-Seq_HL-1_Mouse1.84150830
21CDX2_19796622_ChIP-Seq_MESCs_Mouse1.79099239
22TP63_17297297_ChIP-ChIP_HaCaT_Human1.77052751
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.74983048
24ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.74479487
25TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.70393167
26NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.65891761
27FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.62278014
28PPARA_22158963_ChIP-Seq_LIVER_Mouse1.60969777
29SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.60890305
30BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.60576752
31BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.59506999
32NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.58079704
33CTCF_21964334_ChIP-Seq_BJAB-B_Human1.57085882
34PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.56424988
35* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.54073669
36ZNF274_21170338_ChIP-Seq_K562_Hela1.52088586
37* RACK7_27058665_Chip-Seq_MCF-7_Human1.48440178
38FOXH1_21741376_ChIP-Seq_ESCs_Human1.47959167
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46328818
40RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.45895744
41* CTCF_27219007_Chip-Seq_Bcells_Human1.43563932
42LXR_22158963_ChIP-Seq_LIVER_Mouse1.43137141
43* CTCF_21964334_Chip-Seq_Bcells_Human1.42491778
44TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40369763
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.39268176
46CBP_20019798_ChIP-Seq_JUKART_Human1.39268176
47NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.38699790
48RXR_22158963_ChIP-Seq_LIVER_Mouse1.35479845
49E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.32740362
50* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.32353089
51CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.31252752
52LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.30794963
53SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.29288229
54ZFP281_18757296_ChIP-ChIP_E14_Mouse1.27541926
55* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.24738620
56EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.23626060
57TRIM28_21343339_ChIP-Seq_HEK293_Human1.19597197
58* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.18670117
59* SA1_27219007_Chip-Seq_Bcells_Human1.16619354
60STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.16501539
61SMC3_22415368_ChIP-Seq_MEFs_Mouse1.15358325
62LXR_22292898_ChIP-Seq_THP-1_Human1.14524619
63OCT4_20526341_ChIP-Seq_ESCs_Human1.13895373
64TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.13435304
65P300_27058665_Chip-Seq_ZR-75-30cells_Human1.11681325
66KDM2B_26808549_Chip-Seq_DND41_Human1.11451301
67* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.09574580
68SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.09137056
69DROSHA_22980978_ChIP-Seq_HELA_Human1.09047005
70* ATF3_27146783_Chip-Seq_COLON_Human1.08715447
71ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08620328
72HIF1A_21447827_ChIP-Seq_MCF-7_Human1.08449947
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07995136
74* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.07656178
75* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05930212
76STAT6_21828071_ChIP-Seq_BEAS2B_Human1.05455463
77* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.04957448
78* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.03334054
79PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.02180941
80ELK3_25401928_ChIP-Seq_HUVEC_Human1.00424044
81EGR1_19032775_ChIP-ChIP_M12_Human1.00371973
82EZH2_27294783_Chip-Seq_ESCs_Mouse0.99764501
83AR_21572438_ChIP-Seq_LNCaP_Human0.99518639
84EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.99226098
85TP63_22573176_ChIP-Seq_HFKS_Human0.99202991
86* SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98759849
87KLF5_20875108_ChIP-Seq_MESCs_Mouse0.98407526
88RAC3_21632823_ChIP-Seq_H3396_Human0.97966526
89* CJUN_26792858_Chip-Seq_BT549_Human0.97943581
90P68_20966046_ChIP-Seq_HELA_Human0.96587938
91WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95902157
92TDRD3_21172665_ChIP-Seq_MCF-7_Human0.95836259
93SPI1_20517297_ChIP-Seq_HL60_Human0.94911976
94MYC_27129775_Chip-Seq_CORNEA_Mouse0.94755255
95NFIB_24661679_ChIP-Seq_LUNG_Mouse0.92088340
96KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92076525
97TP53_20018659_ChIP-ChIP_R1E_Mouse0.91983414
98NRF2_20460467_ChIP-Seq_MEFs_Mouse0.91799122
99NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.91799122
100GATA4_21415370_ChIP-Seq_HL-1_Mouse0.91742512
101SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.89911692
102EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.89803952
103* GATA1_19941827_ChIP-Seq_MEL_Mouse0.88768172
104YY1_22570637_ChIP-Seq_MALME-3M_Human0.88623431
105JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88262559
106TCF7_22412390_ChIP-Seq_EML_Mouse0.88019684
107GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.86404980
108* P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.85486284
109* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.85446596
110MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.84280276
111SA1_27219007_Chip-Seq_ERYTHROID_Human0.83773786
112NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.81719176
113RARB_27405468_Chip-Seq_BRAIN_Mouse0.80791008
114RAD21_21589869_ChIP-Seq_MESCs_Mouse0.78492628
115LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.76503665
116* PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.75179696
117* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74248142
118SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.74215455
119SMC4_20622854_ChIP-Seq_HELA_Human0.74195560
120SUZ12_27294783_Chip-Seq_NPCs_Mouse0.71645675
121MTF2_20144788_ChIP-Seq_MESCs_Mouse0.71112015
122HTT_18923047_ChIP-ChIP_STHdh_Human0.70698735
123ERG_21242973_ChIP-ChIP_JURKAT_Human0.69825816
124SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.69443703
125CRX_20693478_ChIP-Seq_RETINA_Mouse0.69245225
126* TP53_23651856_ChIP-Seq_MEFs_Mouse0.68787611
127STAT1_20625510_ChIP-Seq_HELA_Human0.66922978
128SOX2_21211035_ChIP-Seq_LN229_Gbm0.65441677
129GATA3_21867929_ChIP-Seq_CD8_Mouse0.64849909
130MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.64313483
131TET1_21451524_ChIP-Seq_MESCs_Mouse0.64253472
132PCGF2_27294783_Chip-Seq_ESCs_Mouse0.63431605
133NR3C1_23031785_ChIP-Seq_PC12_Mouse0.63185887
134CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.62870930
135TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.62725597

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.96168571
2MP0000749_muscle_degeneration6.14953507
3MP0000751_myopathy5.81907849
4MP0003646_muscle_fatigue5.51149204
5MP0000747_muscle_weakness4.57087960
6MP0000013_abnormal_adipose_tissue3.97860444
7MP0002106_abnormal_muscle_physiology3.97192353
8MP0000759_abnormal_skeletal_muscle3.71447269
9MP0002837_dystrophic_cardiac_calcinosis3.64440445
10MP0004087_abnormal_muscle_fiber3.60828943
11MP0005369_muscle_phenotype3.50725126
12MP0004036_abnormal_muscle_relaxation3.37595804
13MP0000733_abnormal_muscle_development3.37159597
14MP0000750_abnormal_muscle_regeneration3.30819648
15MP0002269_muscular_atrophy3.16467017
16MP0005620_abnormal_muscle_contractility2.78166645
17MP0004130_abnormal_muscle_cell2.64491029
18MP0002108_abnormal_muscle_morphology2.63174592
19MP0004233_abnormal_muscle_weight2.49619933
20MP0005330_cardiomyopathy2.34108669
21MP0004270_analgesia2.13497520
22MP0004084_abnormal_cardiac_muscle2.01122545
23MP0000003_abnormal_adipose_tissue1.86503976
24MP0004215_abnormal_myocardial_fiber1.84173179
25MP0002332_abnormal_exercise_endurance1.75318342
26MP0002971_abnormal_brown_adipose1.66847764
27MP0005375_adipose_tissue_phenotype1.66422890
28MP0006036_abnormal_mitochondrial_physio1.64092069
29MP0004484_altered_response_of1.62887185
30MP0002972_abnormal_cardiac_muscle1.59407366
31MP0004185_abnormal_adipocyte_glucose1.50484599
32MP0005666_abnormal_adipose_tissue1.45398787
33MP0010630_abnormal_cardiac_muscle1.38590585
34MP0003950_abnormal_plasma_membrane1.34327352
35MP0003221_abnormal_cardiomyocyte_apopto1.08922311
36MP0002234_abnormal_pharynx_morphology0.99114481
37MP0005385_cardiovascular_system_phenoty0.98433820
38MP0001544_abnormal_cardiovascular_syste0.98433820
39MP0003705_abnormal_hypodermis_morpholog0.96297389
40MP0001661_extended_life_span0.95231599
41MP0005266_abnormal_metabolism0.87920030
42MP0004134_abnormal_chest_morphology0.87766226
43MP0005275_abnormal_skin_tensile0.85691716
44MP0003137_abnormal_impulse_conducting0.82668471
45MP0000762_abnormal_tongue_morphology0.79772700
46MP0005165_increased_susceptibility_to0.79423678
47MP0003806_abnormal_nucleotide_metabolis0.78641613
48MP0001299_abnormal_eye_distance/0.78288220
49MP0006138_congestive_heart_failure0.67593034
50MP0006035_abnormal_mitochondrial_morpho0.66753029
51MP0008961_abnormal_basal_metabolism0.63050388
52MP0009250_abnormal_appendicular_skeleto0.62953655
53MP0005670_abnormal_white_adipose0.58476526
54MP0002822_catalepsy0.56040803
55MP0008775_abnormal_heart_ventricle0.55382694
56MP0000579_abnormal_nail_morphology0.54932217
57MP0002127_abnormal_cardiovascular_syste0.52458702
58MP0000266_abnormal_heart_morphology0.51555455
59MP0004147_increased_porphyrin_level0.50335741
60MP0004043_abnormal_pH_regulation0.49938086
61MP0005503_abnormal_tendon_morphology0.49656702
62MP0008438_abnormal_cutaneous_collagen0.48374421
63MP0000343_altered_response_to0.48301504
64MP0002078_abnormal_glucose_homeostasis0.47118931
65MP0009672_abnormal_birth_weight0.46509560
66MP0009780_abnormal_chondrocyte_physiolo0.46289691
67MP0003828_pulmonary_edema0.45735751
68MP0002114_abnormal_axial_skeleton0.45274135
69MP0003656_abnormal_erythrocyte_physiolo0.44625388
70MP0004510_myositis0.44414055
71MP0005166_decreased_susceptibility_to0.41935652
72MP0005452_abnormal_adipose_tissue0.41860390
73MP0004197_abnormal_fetal_growth/weight/0.41720651
74MP0003045_fibrosis0.40523044
75MP0003879_abnormal_hair_cell0.40220824
76MP0002896_abnormal_bone_mineralization0.39507463
77MP0005584_abnormal_enzyme/coenzyme_acti0.38726890
78MP0002796_impaired_skin_barrier0.38588765
79MP0005319_abnormal_enzyme/_coenzyme0.38346842
80MP0002638_abnormal_pupillary_reflex0.37194670
81MP0004085_abnormal_heartbeat0.37067390
82MP0002909_abnormal_adrenal_gland0.36940478
83MP0005167_abnormal_blood-brain_barrier0.36338406
84MP0000372_irregular_coat_pigmentation0.36283521
85MP0008569_lethality_at_weaning0.35483474
86MP0005334_abnormal_fat_pad0.35295576
87MP0005501_abnormal_skin_physiology0.34700841
88MP0010368_abnormal_lymphatic_system0.34228666
89MP0001943_abnormal_respiration0.34104726
90MP0002877_abnormal_melanocyte_morpholog0.33779603
91MP0002734_abnormal_mechanical_nocicepti0.30686559
92MP0001849_ear_inflammation0.29238776
93MP0003948_abnormal_gas_homeostasis0.28913143
94MP0005083_abnormal_biliary_tract0.28453618
95MP0004142_abnormal_muscle_tone0.28323900
96MP0005332_abnormal_amino_acid0.27935459
97MP0001243_abnormal_dermal_layer0.27834718
98MP0000230_abnormal_systemic_arterial0.27442055
99MP0002128_abnormal_blood_circulation0.26923788
100MP0005187_abnormal_penis_morphology0.26365151
101MP0009840_abnormal_foam_cell0.24606263
102MP0010030_abnormal_orbit_morphology0.24179594
103MP0003941_abnormal_skin_development0.23811922
104MP0002118_abnormal_lipid_homeostasis0.22832090
105MP0003566_abnormal_cell_adhesion0.22399395
106MP0000427_abnormal_hair_cycle0.21769735
107MP0005535_abnormal_body_temperature0.21562752
108MP0005376_homeostasis/metabolism_phenot0.20762529
109MP0000383_abnormal_hair_follicle0.20596510
110MP0005451_abnormal_body_composition0.20350716
111MP0003959_abnormal_lean_body0.19952005
112MP0009115_abnormal_fat_cell0.19697183
113MP0001879_abnormal_lymphatic_vessel0.18540053
114MP0002066_abnormal_motor_capabilities/c0.17205464
115MP0008874_decreased_physiological_sensi0.16671895
116MP0005386_behavior/neurological_phenoty0.16188193
117MP0004924_abnormal_behavior0.16188193

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)9.38467080
2Distal arthrogryposis (HP:0005684)7.46618100
3Myopathic facies (HP:0002058)6.53978575
4Exercise-induced myalgia (HP:0003738)6.47360152
5Round ear (HP:0100830)5.70042468
6Ulnar deviation of the wrist (HP:0003049)5.59444063
7Hyporeflexia of lower limbs (HP:0002600)5.34347825
8Exercise-induced muscle cramps (HP:0003710)5.24701184
9Muscle fiber splitting (HP:0003555)5.11638262
10Calcaneovalgus deformity (HP:0001848)4.89157210
11Muscle hypertrophy of the lower extremities (HP:0008968)4.87450520
12Deformed tarsal bones (HP:0008119)4.85117084
13Calf muscle hypertrophy (HP:0008981)4.55695835
14EMG: myopathic abnormalities (HP:0003458)4.46859552
15Absent phalangeal crease (HP:0006109)4.33984070
16Difficulty running (HP:0009046)4.15979262
17Abnormality of skeletal muscle fiber size (HP:0012084)4.10662851
18Bundle branch block (HP:0011710)4.09888513
19Neck muscle weakness (HP:0000467)3.97797986
20Increased connective tissue (HP:0009025)3.80209890
21Fetal akinesia sequence (HP:0001989)3.75402886
22Malignant hyperthermia (HP:0002047)3.73645360
23Frequent falls (HP:0002359)3.72639650
24Myoglobinuria (HP:0002913)3.66727751
25Muscle stiffness (HP:0003552)3.66551229
26Abnormality of the calf musculature (HP:0001430)3.63744881
27Abnormal finger flexion creases (HP:0006143)3.61749848
28Rimmed vacuoles (HP:0003805)3.56938818
29Increased variability in muscle fiber diameter (HP:0003557)3.53860088
30Fatigable weakness (HP:0003473)3.36822447
31Abnormality of the neuromuscular junction (HP:0003398)3.36822447
32Areflexia of lower limbs (HP:0002522)3.33641767
33Myotonia (HP:0002486)3.17198986
34Distal lower limb muscle weakness (HP:0009053)3.09405921
35Rhabdomyolysis (HP:0003201)3.07685803
36Bulbar palsy (HP:0001283)3.06847775
37Progressive muscle weakness (HP:0003323)3.00242130
38Slender build (HP:0001533)2.99365193
39Abnormality of the calcaneus (HP:0008364)2.98098802
40Mildly elevated creatine phosphokinase (HP:0008180)2.93476330
41Weak cry (HP:0001612)2.93175260
42Difficulty climbing stairs (HP:0003551)2.81446442
43EMG: neuropathic changes (HP:0003445)2.79552647
44Gowers sign (HP:0003391)2.78654155
45Hip contracture (HP:0003273)2.75342258
46Generalized muscle weakness (HP:0003324)2.71319389
47Facial diplegia (HP:0001349)2.64753100
48Centrally nucleated skeletal muscle fibers (HP:0003687)2.63801246
49Spinal rigidity (HP:0003306)2.62336846
50Heart block (HP:0012722)2.60442457
51Shoulder girdle muscle weakness (HP:0003547)2.51128457
52Scapular winging (HP:0003691)2.50446152
53Type 2 muscle fiber atrophy (HP:0003554)2.49913173
54Pelvic girdle muscle weakness (HP:0003749)2.49575840
55Abnormality of the left ventricular outflow tract (HP:0011103)2.47264705
56Subaortic stenosis (HP:0001682)2.47264705
57Abnormal atrioventricular conduction (HP:0005150)2.46869165
58Abnormality of the hip-girdle musculature (HP:0001445)2.41489862
59Abnormality of the musculature of the pelvis (HP:0001469)2.41489862
60Ragged-red muscle fibers (HP:0003200)2.41421863
61Proximal amyotrophy (HP:0007126)2.36547413
62Popliteal pterygium (HP:0009756)2.30417413
63Sudden death (HP:0001699)2.30358305
64Asymmetric septal hypertrophy (HP:0001670)2.28807529
65Muscle fiber atrophy (HP:0100295)2.26142057
66Limb-girdle muscle atrophy (HP:0003797)2.24778242
67Ulnar deviation of finger (HP:0009465)2.21517898
68Ventricular arrhythmia (HP:0004308)2.20251821
69Waddling gait (HP:0002515)2.13947258
70Atrial fibrillation (HP:0005110)2.12193550
71Distal lower limb amyotrophy (HP:0008944)2.11686765
72Abnormality of the shoulder girdle musculature (HP:0001435)2.11598800
73Respiratory insufficiency due to muscle weakness (HP:0002747)2.10376688
74Hyperkalemia (HP:0002153)2.08682150
75Amniotic constriction ring (HP:0009775)2.04052716
76Abnormality of placental membranes (HP:0011409)2.04052716
77Easy fatigability (HP:0003388)2.03748740
78Muscle fiber inclusion bodies (HP:0100299)12.2626283
79Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)11.4184255
80Nemaline bodies (HP:0003798)11.2840663
81Nonprogressive disorder (HP:0003680)1.97742846
82Muscular dystrophy (HP:0003560)1.97172280
83Metatarsus adductus (HP:0001840)1.94541014
84Primary atrial arrhythmia (HP:0001692)1.92942938
85Exercise intolerance (HP:0003546)1.88534006
86Limb-girdle muscle weakness (HP:0003325)1.88349412
87Limited hip movement (HP:0008800)1.88308487
88Supraventricular tachycardia (HP:0004755)1.87848561
89Right ventricular cardiomyopathy (HP:0011663)1.87822774
90Paralysis (HP:0003470)1.82476662
91Supraventricular arrhythmia (HP:0005115)1.82191694
92Atrioventricular block (HP:0001678)1.81752307
93Achilles tendon contracture (HP:0001771)1.81735389
94Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.81025739
95Hypoplastic ischia (HP:0003175)1.80991777
96Syncope (HP:0001279)1.79919334
97Palpitations (HP:0001962)1.79116767
98Increased intramyocellular lipid droplets (HP:0012240)1.78127538
99Aplasia of the musculature (HP:0100854)1.76945040
100Ventricular fibrillation (HP:0001663)1.71993092
101Increased muscle lipid content (HP:0009058)1.67818161
102Abnormality of the Achilles tendon (HP:0005109)1.67312853
103Tarsal synostosis (HP:0008368)1.63789418
104Lower limb amyotrophy (HP:0007210)1.61202963
105Abnormality of the ischium (HP:0003174)1.57587141
106Foot dorsiflexor weakness (HP:0009027)1.55188790
107Adducted thumb (HP:0001181)1.52754371
108Ventricular tachycardia (HP:0004756)1.52054435
109Abnormality of the foot musculature (HP:0001436)1.51630146
110Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.51064476
111Dilated cardiomyopathy (HP:0001644)1.50889268
112Long clavicles (HP:0000890)1.50870292
113Steppage gait (HP:0003376)1.46961742
114Left ventricular hypertrophy (HP:0001712)1.46736112
115Synostosis involving bones of the lower limbs (HP:0009138)1.46583673
116Synostosis involving bones of the feet (HP:0009140)1.46583673
117Congenital hip dislocation (HP:0001374)1.46079179
118Akinesia (HP:0002304)1.45146422
119Lipoatrophy (HP:0100578)1.39033290

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.55689100
2PIK3CG4.49100489
3NME13.62357779
4MUSK3.59631569
5PHKG12.99952317
6PHKG22.99952317
7TRIB32.65709260
8MAP2K32.41251598
9OBSCN11.9271415
10PINK11.87845668
11NEK11.87620857
12DMPK1.85094903
13MAP3K71.84622279
14MYLK1.78792344
15PDK31.69556372
16PDK41.69556372
17MAPK121.49792970
18MAP2K41.24365291
19MAP3K31.15598899
20PDK21.11456323
21BCKDK1.08319667
22MAP2K61.06496343
23MARK11.02367743
24PKN21.02060994
25MAPKAPK30.89834119
26PIK3CA0.88482544
27MOS0.85259249
28EPHB10.79299691
29LIMK10.79079143
30MAP2K10.73656910
31CAMK2G0.66555363
32ILK0.66170932
33CAMK40.63445538
34NEK90.60348162
35MAP3K130.59430370
36TAOK10.58198902
37TAOK20.56025736
38MAP3K110.54740108
39PAK30.53545905
40ZAK0.53111518
41ERN10.48975129
42CAMK10.48810973
43PRKAA10.44355920
44ARAF0.44133402
45PTK60.43648975
46MAPK110.43335698
47ROCK10.42291354
48RPS6KC10.41744560
49RPS6KL10.41744560
50SGK30.41207373
51RIPK10.37717480
52ERBB30.37439608
53TRPM70.36944586
54PRKAA20.36313228
55PRPF4B0.34467676
56RPS6KA60.34394993
57EPHA30.30845024
58PRKG10.29721140
59DAPK20.27503672
60MAP3K50.27465071
61SGK10.27444344
62EEF2K0.26188450
63CDC42BPA0.25986888
64MAPK40.25471507
65PKN10.24629352
66* AKT20.24397939
67RPS6KA10.23809246
68CAMK2D0.23676889
69LATS20.23667844
70KSR20.21970300
71PDPK10.21720702
72SGK20.21453701
73TIE10.21193639
74TGFBR20.20989290
75SIK10.20530980
76MAPK70.20381950
77CDK60.19880501
78STK40.19830914
79MAP3K10.19731523
80MAP3K60.19150093
81LRRK20.19081242
82RPS6KA30.18827370
83DAPK30.16875359
84PRKACB0.16248715
85PRKACG0.16220461
86ROCK20.16122519
87FER0.15836645
88BRAF0.15643727
89RPS6KB10.15485130
90MARK20.15458465
91ZAP700.14970744
92RAF10.14805305
93STK240.14766113
94ICK0.14586700
95PDK10.14137598
96PDGFRA0.12676664
97PRKACA0.12587181
98PTK2B0.12545440
99MAP3K90.12037717
100INSRR0.11737506
101PAK40.11432799
102PRKD10.11307774
103MARK30.10064055
104KSR10.10010427
105DYRK1B0.09828641
106BMX0.09710589
107ABL20.09227132
108EPHB20.08547486
109TESK10.07986893
110RPS6KB20.06872171
111PAK60.06835239
112STK110.06324175
113MST1R0.06307430
114CAMK2A0.06213311
115GSK3A0.06087268
116NLK0.05710561
117RET0.05586521
118PIM20.05192819
119MAPK100.05167874
120FLT30.04915722
121MTOR0.03793519
122CCNB10.02607032
123PRKCH0.02501244
124LATS10.00999263
125MAP3K100.00820402
126MAPK80.00795604
127CAMK2B0.00571197
128DDR20.00423045
129JAK20.00331697
130TBK1-0.0071726
131FGFR1-0.0008802

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.50938584
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.30299986
3Cardiac muscle contraction_Homo sapiens_hsa042604.01384611
4Dilated cardiomyopathy_Homo sapiens_hsa054143.97637458
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.81449609
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.35638747
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.74996998
8Starch and sucrose metabolism_Homo sapiens_hsa005002.51670292
9Propanoate metabolism_Homo sapiens_hsa006402.27472683
10Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.01710726
11Carbon metabolism_Homo sapiens_hsa012001.98208209
12Oxytocin signaling pathway_Homo sapiens_hsa049211.96794732
13Insulin signaling pathway_Homo sapiens_hsa049101.88589741
14Glucagon signaling pathway_Homo sapiens_hsa049221.82870465
15Fatty acid degradation_Homo sapiens_hsa000711.81385056
16Insulin resistance_Homo sapiens_hsa049311.69040363
17Parkinsons disease_Homo sapiens_hsa050121.64295141
18Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.61022646
19Tight junction_Homo sapiens_hsa045301.58375124
20Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.56001407
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.50085360
22Viral myocarditis_Homo sapiens_hsa054161.47783504
23Alzheimers disease_Homo sapiens_hsa050101.47520952
24Adipocytokine signaling pathway_Homo sapiens_hsa049201.46849221
25Circadian rhythm_Homo sapiens_hsa047101.38019962
26Pyruvate metabolism_Homo sapiens_hsa006201.34826945
27Oxidative phosphorylation_Homo sapiens_hsa001901.34589381
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.30315129
29AMPK signaling pathway_Homo sapiens_hsa041521.29836173
30Fatty acid metabolism_Homo sapiens_hsa012121.27942681
31Calcium signaling pathway_Homo sapiens_hsa040201.25213626
32Biosynthesis of amino acids_Homo sapiens_hsa012301.19220410
33Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.13102078
34Focal adhesion_Homo sapiens_hsa045101.11018167
35Galactose metabolism_Homo sapiens_hsa000521.08752472
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.07510522
37Arginine and proline metabolism_Homo sapiens_hsa003301.05531242
38Arginine biosynthesis_Homo sapiens_hsa002201.02407868
39Vascular smooth muscle contraction_Homo sapiens_hsa042700.99698454
40cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97012180
41HIF-1 signaling pathway_Homo sapiens_hsa040660.88582755
42GnRH signaling pathway_Homo sapiens_hsa049120.87536597
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86928030
44Central carbon metabolism in cancer_Homo sapiens_hsa052300.84557900
45FoxO signaling pathway_Homo sapiens_hsa040680.84029865
46Fructose and mannose metabolism_Homo sapiens_hsa000510.83909989
47MAPK signaling pathway_Homo sapiens_hsa040100.83521365
48VEGF signaling pathway_Homo sapiens_hsa043700.78445458
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70336239
50Butanoate metabolism_Homo sapiens_hsa006500.70172591
51mTOR signaling pathway_Homo sapiens_hsa041500.67874512
52Insulin secretion_Homo sapiens_hsa049110.67793625
53PPAR signaling pathway_Homo sapiens_hsa033200.64945619
54Proteoglycans in cancer_Homo sapiens_hsa052050.64360816
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.63871745
56Nitrogen metabolism_Homo sapiens_hsa009100.62918555
57Gastric acid secretion_Homo sapiens_hsa049710.61693072
58Fatty acid biosynthesis_Homo sapiens_hsa000610.60610983
59Long-term potentiation_Homo sapiens_hsa047200.59083332
60Renin secretion_Homo sapiens_hsa049240.58273587
61Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57898938
62Renal cell carcinoma_Homo sapiens_hsa052110.57542877
63Huntingtons disease_Homo sapiens_hsa050160.55913207
64Leukocyte transendothelial migration_Homo sapiens_hsa046700.53662724
65Platelet activation_Homo sapiens_hsa046110.52047998
66Amoebiasis_Homo sapiens_hsa051460.49372567
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47736773
68Fatty acid elongation_Homo sapiens_hsa000620.46655882
69Sulfur relay system_Homo sapiens_hsa041220.43638548
70Regulation of actin cytoskeleton_Homo sapiens_hsa048100.43011016
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.41830721
72Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.41031846
73Pentose phosphate pathway_Homo sapiens_hsa000300.39230487
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39005629
75beta-Alanine metabolism_Homo sapiens_hsa004100.37325745
76Adherens junction_Homo sapiens_hsa045200.36304913
77Phenylalanine metabolism_Homo sapiens_hsa003600.33642541
78cAMP signaling pathway_Homo sapiens_hsa040240.32852435
79ECM-receptor interaction_Homo sapiens_hsa045120.31644744
80Aldosterone synthesis and secretion_Homo sapiens_hsa049250.30820646
81Long-term depression_Homo sapiens_hsa047300.29927707
82Bile secretion_Homo sapiens_hsa049760.29642921
83Type II diabetes mellitus_Homo sapiens_hsa049300.29503652
84Cholinergic synapse_Homo sapiens_hsa047250.28961031
85Tryptophan metabolism_Homo sapiens_hsa003800.28277541
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.27390765
87Lysine degradation_Homo sapiens_hsa003100.26973550
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.26834152
89Regulation of autophagy_Homo sapiens_hsa041400.25530947
90Salivary secretion_Homo sapiens_hsa049700.24469861
91AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.23434869
92alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22538561
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22217175
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.22211246
95Fat digestion and absorption_Homo sapiens_hsa049750.21083751
96Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.20116153
97Peroxisome_Homo sapiens_hsa041460.19721783
98Ovarian steroidogenesis_Homo sapiens_hsa049130.19393325
99Linoleic acid metabolism_Homo sapiens_hsa005910.18228555
100Cysteine and methionine metabolism_Homo sapiens_hsa002700.17114055
101Pancreatic secretion_Homo sapiens_hsa049720.16895059
102Acute myeloid leukemia_Homo sapiens_hsa052210.16337750
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.14418042
104Histidine metabolism_Homo sapiens_hsa003400.14246109
105Chronic myeloid leukemia_Homo sapiens_hsa052200.13864347
106Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.13613946
107Circadian entrainment_Homo sapiens_hsa047130.12840811
108Melanogenesis_Homo sapiens_hsa049160.12775784
109Salmonella infection_Homo sapiens_hsa051320.12432611
110Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.12005292
111Amphetamine addiction_Homo sapiens_hsa050310.11869871
112Metabolic pathways_Homo sapiens_hsa011000.11763469
113Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.11095301
114Tyrosine metabolism_Homo sapiens_hsa003500.11061714
115Gap junction_Homo sapiens_hsa045400.10872909
116Purine metabolism_Homo sapiens_hsa002300.10700417
117Proteasome_Homo sapiens_hsa030500.09239896
118Glioma_Homo sapiens_hsa052140.08517982

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