ACTN2

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: Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several 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
1sarcomere organization (GO:0045214)9.50799062
2cardiac myofibril assembly (GO:0055003)9.02739203
3* actin-myosin filament sliding (GO:0033275)8.28488585
4* muscle filament sliding (GO:0030049)8.28488585
5myofibril assembly (GO:0030239)8.27052174
6cardiac muscle contraction (GO:0060048)7.07853340
7* actin-mediated cell contraction (GO:0070252)6.83500913
8plasma membrane repair (GO:0001778)6.69085127
9cardiac muscle cell development (GO:0055013)6.64594541
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.63229462
11* negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.53446657
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.52091878
13regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.48848227
14regulation of skeletal muscle contraction (GO:0014819)6.44323234
15cardiac cell development (GO:0055006)6.24264745
16tricarboxylic acid cycle (GO:0006099)6.19217944
17actomyosin structure organization (GO:0031032)6.18497110
18* negative regulation of potassium ion transmembrane transport (GO:1901380)6.07631926
19regulation of actin filament-based movement (GO:1903115)6.05643309
20regulation of relaxation of muscle (GO:1901077)6.04815206
21cardiac muscle tissue morphogenesis (GO:0055008)6.03191314
22adult heart development (GO:0007512)6.02440292
23striated muscle contraction (GO:0006941)5.95248305
24regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.93844502
25ventricular cardiac muscle cell action potential (GO:0086005)5.83227206
26cardiac muscle hypertrophy (GO:0003300)5.78344527
27ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.78014629
28regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.73497444
29regulation of sarcomere organization (GO:0060297)5.67925113
30sarcoplasmic reticulum calcium ion transport (GO:0070296)5.55827638
31striated muscle hypertrophy (GO:0014897)5.50976312
32muscle tissue morphogenesis (GO:0060415)5.43358331
33heart trabecula formation (GO:0060347)5.28447651
34heart process (GO:0003015)5.27772173
35heart contraction (GO:0060047)5.27772173
36bundle of His cell to Purkinje myocyte communication (GO:0086069)5.27391300
37regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.19028904
38regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.14580306
39regulation of striated muscle contraction (GO:0006942)5.12900995
40* actin filament-based movement (GO:0030048)5.09970104
41regulation of cell communication by electrical coupling (GO:0010649)5.08557343
42carnitine shuttle (GO:0006853)5.00902188
43regulation of membrane repolarization (GO:0060306)4.99614828
44regulation of the force of heart contraction (GO:0002026)4.90684846
45muscle hypertrophy (GO:0014896)4.88273058
46skeletal muscle adaptation (GO:0043501)4.87768045
47response to muscle activity (GO:0014850)4.85784820
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.82358514
49regulation of acyl-CoA biosynthetic process (GO:0050812)4.73250574
50cell communication involved in cardiac conduction (GO:0086065)4.63513798
51negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.48125292
52striated muscle atrophy (GO:0014891)4.40606421
53response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.38934853
54regulation of cofactor metabolic process (GO:0051193)4.32963476
55regulation of coenzyme metabolic process (GO:0051196)4.32963476
56skeletal muscle contraction (GO:0003009)4.32385132
57fatty acid transmembrane transport (GO:1902001)4.26173390
58cardiac muscle hypertrophy in response to stress (GO:0014898)4.25287100
59muscle hypertrophy in response to stress (GO:0003299)4.25287100
60cardiac muscle adaptation (GO:0014887)4.25287100
61muscle fiber development (GO:0048747)4.24799530
62cardiac muscle cell action potential involved in contraction (GO:0086002)4.23317082
63mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.21579526
64cardiac muscle cell action potential (GO:0086001)4.19025100
65cell communication by electrical coupling (GO:0010644)4.16528791
66negative regulation of striated muscle cell apoptotic process (GO:0010664)4.16123997
67regulation of cardiac muscle contraction (GO:0055117)4.11406428
68regulation of heart rate (GO:0002027)4.11365143
69regulation of cardioblast differentiation (GO:0051890)4.08082266
70striated muscle cell development (GO:0055002)3.99463757
71muscle atrophy (GO:0014889)3.93972377
72regulation of ATP catabolic process (GO:1903289)3.93945071
73regulation of ATPase activity (GO:0043462)3.93945071
74skeletal muscle fiber development (GO:0048741)3.93188809
75regulation of cardiac muscle cell contraction (GO:0086004)3.92846719
76positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.91778863
77energy coupled proton transport, down electrochemical gradient (GO:0015985)3.90334517
78ATP synthesis coupled proton transport (GO:0015986)3.90334517
79membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.87357733
80* muscle contraction (GO:0006936)3.84045620
81ventricular cardiac muscle cell development (GO:0055015)3.81260823
82regulation of heart contraction (GO:0008016)3.78092448
83oxidative phosphorylation (GO:0006119)3.74445253
84regulation of muscle system process (GO:0090257)3.73547561
85myotube cell development (GO:0014904)3.73426014
86relaxation of cardiac muscle (GO:0055119)3.72378540
87NADH metabolic process (GO:0006734)3.70404172
88cardiac conduction (GO:0061337)3.68025731
89muscle adaptation (GO:0043500)3.67288424
90response to inactivity (GO:0014854)3.66021745
91carnitine transmembrane transport (GO:1902603)3.65400196
92detection of calcium ion (GO:0005513)3.65283320
93respiratory electron transport chain (GO:0022904)3.64613298
94mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.64532446
95striated muscle adaptation (GO:0014888)3.63382202
96response to epinephrine (GO:0071871)3.61577043
97cellular response to epinephrine stimulus (GO:0071872)3.60675861
98skeletal muscle tissue development (GO:0007519)3.59533656
99* muscle system process (GO:0003012)3.59234543
100cardiac chamber formation (GO:0003207)3.59206563
101regulation of heart rate by cardiac conduction (GO:0086091)3.57410184
102creatine metabolic process (GO:0006600)3.56533369
103response to caffeine (GO:0031000)3.55665638
104muscle cell cellular homeostasis (GO:0046716)3.53681960
105negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.53665651
106negative regulation of calcium ion transmembrane transport (GO:1903170)3.53665651
107electron transport chain (GO:0022900)3.53433715
108regulation of muscle contraction (GO:0006937)3.52521446
109regulation of calcium ion transmembrane transport (GO:1903169)3.51945681
110regulation of calcium ion transmembrane transporter activity (GO:1901019)3.51945681
111regulation of sulfur metabolic process (GO:0042762)3.50555332
1122-oxoglutarate metabolic process (GO:0006103)3.44472157
113negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.44282783
114muscle cell development (GO:0055001)3.42730060
115regulation of striated muscle cell apoptotic process (GO:0010662)3.42286751
116trabecula formation (GO:0060343)3.41488847
117positive regulation of cation channel activity (GO:2001259)3.40039277
118positive regulation of myotube differentiation (GO:0010831)3.39357278
119negative regulation of cytosolic calcium ion concentration (GO:0051481)3.35001938
120cardiac ventricle formation (GO:0003211)3.30948026
121carnitine transport (GO:0015879)3.30468328
122amino-acid betaine transport (GO:0015838)3.30468328
123relaxation of muscle (GO:0090075)3.29891913
124muscle cell fate commitment (GO:0042693)3.28854915
125glycogen catabolic process (GO:0005980)3.27471816
126muscle organ development (GO:0007517)3.23116686
127muscle structure development (GO:0061061)3.20986972

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.11585659
2* EP300_21415370_ChIP-Seq_HL-1_Mouse5.10073396
3* ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.46795281
4* TBX20_22328084_ChIP-Seq_HEART_Mouse4.20073287
5* TBX20_22080862_ChIP-Seq_HEART_Mouse4.20073287
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.49984521
7MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.48429074
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.42627376
9ZNF263_19887448_ChIP-Seq_K562_Human2.99100687
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.96934364
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.92517475
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.80561573
13GATA4_21415370_ChIP-Seq_HL-1_Mouse2.53715606
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.52960001
15EZH2_22144423_ChIP-Seq_EOC_Human2.48466140
16EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.37127408
17* RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.12870391
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.10271842
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.97108244
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91647535
21NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.90639213
22NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.85300741
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.83909015
24PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.71119259
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.66510459
26ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.60936353
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.52904253
28NFIB_24661679_ChIP-Seq_LUNG_Mouse1.46348127
29DROSHA_22980978_ChIP-Seq_HELA_Human1.42290736
30NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.41758159
31CLOCK_20551151_ChIP-Seq_293T_Human1.40418955
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.38566008
33CTCF_27219007_Chip-Seq_Bcells_Human1.35898070
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34845442
35KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33650913
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.31756268
37ISL1_27105846_Chip-Seq_CPCs_Mouse1.31570759
38TRIM28_21343339_ChIP-Seq_HEK293_Human1.29679931
39PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.27470062
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.24831398
41ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.24242814
42TP63_22573176_ChIP-Seq_HFKS_Human1.17017025
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15844178
44KDM2B_26808549_Chip-Seq_DND41_Human1.15580640
45ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.14890107
46SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.14656532
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.13280404
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.12483328
49SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.11786603
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.11532560
51GATA2_21666600_ChIP-Seq_HMVEC_Human1.11107574
52SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11001472
53ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09088550
54GBX2_23144817_ChIP-Seq_PC3_Human1.08751677
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.08063140
56GATA1_19941826_ChIP-Seq_K562_Human1.07935277
57VDR_22108803_ChIP-Seq_LS180_Human1.06784630
58PCGF2_27294783_Chip-Seq_NPCs_Mouse1.06142084
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.06062523
60ZNF274_21170338_ChIP-Seq_K562_Hela1.05394791
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04871255
62TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03686967
63IGF1R_20145208_ChIP-Seq_DFB_Human1.03069095
64BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.02266378
65FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.00719069
66HTT_18923047_ChIP-ChIP_STHdh_Human1.00508923
67GATA1_22025678_ChIP-Seq_K562_Human0.99568123
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.99402702
69RACK7_27058665_Chip-Seq_MCF-7_Human0.97956837
70EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.97363427
71ELK3_25401928_ChIP-Seq_HUVEC_Human0.97055364
72SMAD3_21741376_ChIP-Seq_HESCs_Human0.96379062
73RUNX1_27514584_Chip-Seq_MCF-7_Human0.96288912
74LXR_22292898_ChIP-Seq_THP-1_Human0.95066980
75TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.93955992
76CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93328035
77HIF1A_21447827_ChIP-Seq_MCF-7_Human0.93237697
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.93135409
79* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92796008
80CBX2_27304074_Chip-Seq_ESCs_Mouse0.92692344
81SPI1_20517297_ChIP-Seq_HL60_Human0.92606051
82OCT4_20526341_ChIP-Seq_ESCs_Human0.92482500
83SMC3_22415368_ChIP-Seq_MEFs_Mouse0.92410753
84ATF3_27146783_Chip-Seq_COLON_Human0.91793786
85SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91683485
86EZH2_27304074_Chip-Seq_ESCs_Mouse0.90798568
87EZH2_18974828_ChIP-Seq_MESCs_Mouse0.90673540
88RNF2_18974828_ChIP-Seq_MESCs_Mouse0.90673540
89EZH2_27294783_Chip-Seq_NPCs_Mouse0.90422844
90JARID2_20075857_ChIP-Seq_MESCs_Mouse0.89911545
91SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.89591341
92FOXH1_21741376_ChIP-Seq_ESCs_Human0.88399787
93EZH2_27294783_Chip-Seq_ESCs_Mouse0.88365898
94WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87950924
95SOX2_21211035_ChIP-Seq_LN229_Gbm0.87296121
96AUTS2_25519132_ChIP-Seq_293T-REX_Human0.86959759
97P68_20966046_ChIP-Seq_HELA_Human0.86655026
98DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.86564264
99MTF2_20144788_ChIP-Seq_MESCs_Mouse0.85637041
100NRF2_20460467_ChIP-Seq_MEFs_Mouse0.85289468
101NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.85289468
102UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.85007517
103SMAD4_21741376_ChIP-Seq_HESCs_Human0.84366515
104KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.84006849
105TP53_23651856_ChIP-Seq_MEFs_Mouse0.83829781
106* RARB_27405468_Chip-Seq_BRAIN_Mouse0.83779118
107MYC_27129775_Chip-Seq_CORNEA_Mouse0.82547020
108RNF2_27304074_Chip-Seq_ESCs_Mouse0.82522214
109SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.82337613
110SMAD4_21799915_ChIP-Seq_A2780_Human0.82236363
111DNAJC2_21179169_ChIP-ChIP_NT2_Human0.81907779
112TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81771902
113RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.81732714
114NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.81699652
115GATA1_19941827_ChIP-Seq_MEL86_Mouse0.81156746
116SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.80932079
117CRX_20693478_ChIP-Seq_RETINA_Mouse0.80798579
118LXR_22158963_ChIP-Seq_LIVER_Mouse0.80700288
119LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.79846157
120GATA2_19941826_ChIP-Seq_K562_Human0.79502422
121* CJUN_26792858_Chip-Seq_BT549_Human0.79212888
122MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.78916165
123FOXA2_19822575_ChIP-Seq_HepG2_Human0.78632068
124ESR1_21235772_ChIP-Seq_MCF-7_Human0.77962412
125PCGF2_27294783_Chip-Seq_ESCs_Mouse0.76845126
126PPARA_22158963_ChIP-Seq_LIVER_Mouse0.76752680
127SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.76653963
128STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.76347735
129LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76148204
130YAP1_20516196_ChIP-Seq_MESCs_Mouse0.75902466
131GATA1_19941827_ChIP-Seq_MEL_Mouse0.75756841
132GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74785096
133* GF1_26923725_Chip-Seq_HPCs_Mouse0.73723302
134PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.72245553

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.67365604
2MP0004084_abnormal_cardiac_muscle5.92182650
3MP0003646_muscle_fatigue5.42460757
4MP0000751_myopathy5.24841116
5MP0004215_abnormal_myocardial_fiber4.67416402
6MP0004036_abnormal_muscle_relaxation4.50815793
7MP0000749_muscle_degeneration4.31768060
8MP0005330_cardiomyopathy3.95849156
9MP0002972_abnormal_cardiac_muscle3.24362586
10MP0004087_abnormal_muscle_fiber3.23872225
11MP0003137_abnormal_impulse_conducting2.92992219
12MP0008775_abnormal_heart_ventricle2.91398750
13MP0005620_abnormal_muscle_contractility2.89049064
14MP0004145_abnormal_muscle_electrophysio2.79637758
15MP0000750_abnormal_muscle_regeneration2.78977440
16MP0002106_abnormal_muscle_physiology2.73672196
17MP0010630_abnormal_cardiac_muscle2.64624189
18MP0001544_abnormal_cardiovascular_syste2.60843235
19MP0005385_cardiovascular_system_phenoty2.60843235
20MP0006138_congestive_heart_failure2.45101966
21MP0004484_altered_response_of2.40535338
22MP0002269_muscular_atrophy2.39744069
23MP0004130_abnormal_muscle_cell2.34472089
24MP0003828_pulmonary_edema2.30340220
25MP0000747_muscle_weakness2.22736157
26MP0005369_muscle_phenotype2.21580111
27MP0004085_abnormal_heartbeat2.13735564
28MP0000759_abnormal_skeletal_muscle2.13686873
29MP0003221_abnormal_cardiomyocyte_apopto1.96464301
30MP0004510_myositis1.88420309
31MP0004233_abnormal_muscle_weight1.78513237
32MP0003950_abnormal_plasma_membrane1.75669029
33MP0002127_abnormal_cardiovascular_syste1.72300346
34MP0006036_abnormal_mitochondrial_physio1.64314820
35MP0002332_abnormal_exercise_endurance1.41030227
36MP0003567_abnormal_fetal_cardiomyocyte1.38982963
37MP0005666_abnormal_adipose_tissue1.24023283
38MP0002234_abnormal_pharynx_morphology1.20059029
39MP0000266_abnormal_heart_morphology1.16036515
40MP0003279_aneurysm1.06665179
41MP0000343_altered_response_to1.04760841
42MP0005670_abnormal_white_adipose1.04453231
43MP0010368_abnormal_lymphatic_system1.01573949
44MP0004270_analgesia1.00225348
45MP0006035_abnormal_mitochondrial_morpho0.97045054
46MP0005165_increased_susceptibility_to0.91945027
47MP0002108_abnormal_muscle_morphology0.91033719
48MP0005451_abnormal_body_composition0.88889256
49MP0001661_extended_life_span0.86097176
50MP0004185_abnormal_adipocyte_glucose0.84973165
51MP0005375_adipose_tissue_phenotype0.84002747
52MP0000733_abnormal_muscle_development0.83277541
53MP0002128_abnormal_blood_circulation0.77304177
54MP0003566_abnormal_cell_adhesion0.77010674
55MP0005266_abnormal_metabolism0.76450382
56MP0000230_abnormal_systemic_arterial0.74875601
57MP0005623_abnormal_meninges_morphology0.74840613
58MP0003705_abnormal_hypodermis_morpholog0.68786947
59MP0004272_abnormal_basement_membrane0.61860407
60MP0000767_abnormal_smooth_muscle0.61144851
61MP0002909_abnormal_adrenal_gland0.58687146
62MP0000013_abnormal_adipose_tissue0.57728918
63MP0001879_abnormal_lymphatic_vessel0.56811356
64MP0003045_fibrosis0.54927815
65MP0002971_abnormal_brown_adipose0.50315576
66MP0003806_abnormal_nucleotide_metabolis0.49653134
67MP0005275_abnormal_skin_tensile0.49644165
68MP0002925_abnormal_cardiovascular_devel0.48924032
69MP0000003_abnormal_adipose_tissue0.48539412
70MP0004043_abnormal_pH_regulation0.46369167
71MP0001299_abnormal_eye_distance/0.44638724
72MP0008438_abnormal_cutaneous_collagen0.44069693
73MP0008004_abnormal_stomach_pH0.43277477
74MP0003984_embryonic_growth_retardation0.41521742
75MP0005187_abnormal_penis_morphology0.41517056
76MP0001784_abnormal_fluid_regulation0.41371140
77MP0002088_abnormal_embryonic_growth/wei0.40821908
78MP0009384_cardiac_valve_regurgitation0.38931957
79MP0002078_abnormal_glucose_homeostasis0.37846448
80MP0008961_abnormal_basal_metabolism0.37619300
81MP0005319_abnormal_enzyme/_coenzyme0.37371512
82MP0004147_increased_porphyrin_level0.37102788
83MP0001614_abnormal_blood_vessel0.36262055
84MP0002822_catalepsy0.35156740
85MP0003948_abnormal_gas_homeostasis0.34137305
86MP0009840_abnormal_foam_cell0.28573568
87MP0005595_abnormal_vascular_smooth0.28228727
88MP0003879_abnormal_hair_cell0.27426650
89MP0000762_abnormal_tongue_morphology0.25736889
90MP0005584_abnormal_enzyme/coenzyme_acti0.25070053
91MP0005535_abnormal_body_temperature0.24913313
92MP0004924_abnormal_behavior0.24552610
93MP0005386_behavior/neurological_phenoty0.24552610
94MP0001984_abnormal_olfaction0.24468105
95MP0002638_abnormal_pupillary_reflex0.24229593
96MP0005377_hearing/vestibular/ear_phenot0.23900458
97MP0003878_abnormal_ear_physiology0.23900458
98MP0003941_abnormal_skin_development0.21207907
99MP0005380_embryogenesis_phenotype0.20846489
100MP0001672_abnormal_embryogenesis/_devel0.20846489
101MP0005388_respiratory_system_phenotype0.20285944
102MP0002133_abnormal_respiratory_system0.20285944
103MP0001727_abnormal_embryo_implantation0.19789638
104MP0005166_decreased_susceptibility_to0.19166654
105MP0004134_abnormal_chest_morphology0.18794577
106MP0009780_abnormal_chondrocyte_physiolo0.18739175
107MP0002896_abnormal_bone_mineralization0.18362716
108MP0005376_homeostasis/metabolism_phenot0.18225911
109MP0005167_abnormal_blood-brain_barrier0.18122501
110MP0000372_irregular_coat_pigmentation0.18046572
111MP0008569_lethality_at_weaning0.17074774
112MP0005334_abnormal_fat_pad0.17055298
113MP0008874_decreased_physiological_sensi0.16964136
114MP0010030_abnormal_orbit_morphology0.16879273
115MP0002066_abnormal_motor_capabilities/c0.16418852
116MP0000249_abnormal_blood_vessel0.16258430
117MP0005452_abnormal_adipose_tissue0.16049170
118MP0001943_abnormal_respiration0.16013819
119MP0002734_abnormal_mechanical_nocicepti0.15921306
120MP0002114_abnormal_axial_skeleton0.15770778
121MP0003122_maternal_imprinting0.15319237
122MP0001958_emphysema0.14747854

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)8.21208318
2Calf muscle hypertrophy (HP:0008981)6.60571941
3Ventricular tachycardia (HP:0004756)6.53915379
4Exercise-induced myalgia (HP:0003738)6.45100728
5Exercise-induced muscle cramps (HP:0003710)6.40556853
6Muscle hypertrophy of the lower extremities (HP:0008968)6.14890580
7Muscle fiber splitting (HP:0003555)5.92273056
8Subaortic stenosis (HP:0001682)5.83192503
9Abnormality of the left ventricular outflow tract (HP:0011103)5.83192503
10Atrial fibrillation (HP:0005110)5.82595543
11Abnormality of the calf musculature (HP:0001430)5.58773847
12Primary atrial arrhythmia (HP:0001692)5.44870091
13Supraventricular tachycardia (HP:0004755)5.26642671
14Hyporeflexia of lower limbs (HP:0002600)5.18748739
15Supraventricular arrhythmia (HP:0005115)5.16490274
16* Lipoatrophy (HP:0100578)5.02013252
17Myoglobinuria (HP:0002913)4.73710546
18Right ventricular cardiomyopathy (HP:0011663)4.68109065
19Syncope (HP:0001279)4.67493831
20EMG: myopathic abnormalities (HP:0003458)4.62206286
21Prolonged QT interval (HP:0001657)4.40047665
22Asymmetric septal hypertrophy (HP:0001670)4.29973963
23Bundle branch block (HP:0011710)4.29652755
24Type 1 muscle fiber predominance (HP:0003803)4.23814630
25* Dilated cardiomyopathy (HP:0001644)4.17938431
26Ventricular arrhythmia (HP:0004308)4.13682408
27Palpitations (HP:0001962)4.12471274
28Ulnar deviation of the wrist (HP:0003049)4.04779476
29Muscle fiber inclusion bodies (HP:0100299)4.03439552
30Increased connective tissue (HP:0009025)3.99162525
31Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.94981248
32Ventricular fibrillation (HP:0001663)3.76006166
33Difficulty running (HP:0009046)3.68872095
34Rhabdomyolysis (HP:0003201)3.68131618
35Heart block (HP:0012722)3.63372878
36Calcaneovalgus deformity (HP:0001848)3.56912114
37Myotonia (HP:0002486)3.56055129
38Atrioventricular block (HP:0001678)3.52661226
39Abnormal atrioventricular conduction (HP:0005150)3.42852895
40Nemaline bodies (HP:0003798)3.33947724
41Abnormal EKG (HP:0003115)3.21609235
42Deformed tarsal bones (HP:0008119)3.14104036
43Absent phalangeal crease (HP:0006109)3.12742080
44Difficulty climbing stairs (HP:0003551)3.02668571
45Neck muscle weakness (HP:0000467)3.02263525
46Left ventricular hypertrophy (HP:0001712)2.91086622
47Malignant hyperthermia (HP:0002047)2.80388460
48Muscle stiffness (HP:0003552)2.73987289
49Distal lower limb muscle weakness (HP:0009053)2.67083307
50Increased variability in muscle fiber diameter (HP:0003557)2.66311282
51Abnormality of skeletal muscle fiber size (HP:0012084)2.62951722
52Areflexia of lower limbs (HP:0002522)2.59103909
53Abnormal finger flexion creases (HP:0006143)2.57342254
54Abnormal mitochondria in muscle tissue (HP:0008316)2.56885559
55Bulbar palsy (HP:0001283)2.54924050
56Fetal akinesia sequence (HP:0001989)2.54286531
57Hepatic necrosis (HP:0002605)2.53440965
58Acute necrotizing encephalopathy (HP:0006965)2.51136902
59Mildly elevated creatine phosphokinase (HP:0008180)2.51014370
60* Palmoplantar keratoderma (HP:0000982)2.50776983
61Ragged-red muscle fibers (HP:0003200)2.49807511
62Rimmed vacuoles (HP:0003805)2.41760905
63Centrally nucleated skeletal muscle fibers (HP:0003687)2.39426287
64EMG: neuropathic changes (HP:0003445)2.38501638
65Limb-girdle muscle atrophy (HP:0003797)2.33575772
66Distal arthrogryposis (HP:0005684)2.32933744
67Weak cry (HP:0001612)2.29784387
68Ketoacidosis (HP:0001993)2.24785503
69Generalized muscle weakness (HP:0003324)2.23799868
70Conjunctival hamartoma (HP:0100780)2.23274398
71Abnormality of the foot musculature (HP:0001436)2.23150775
72Hepatocellular necrosis (HP:0001404)2.20433140
73Fatigable weakness (HP:0003473)2.16136044
74Abnormality of the neuromuscular junction (HP:0003398)2.16136044
75Scapular winging (HP:0003691)2.11784112
76Testicular atrophy (HP:0000029)2.11367569
77Hypoglycemic coma (HP:0001325)2.10716462
78Distal lower limb amyotrophy (HP:0008944)2.10444316
79Acute encephalopathy (HP:0006846)2.09984875
80Sudden cardiac death (HP:0001645)2.07966440
81Congenital malformation of the right heart (HP:0011723)2.06805570
82Double outlet right ventricle (HP:0001719)2.06805570
83Gowers sign (HP:0003391)2.06510370
84Progressive macrocephaly (HP:0004481)2.05979196
85Mitochondrial inheritance (HP:0001427)2.05665046
86Abnormality of the shoulder girdle musculature (HP:0001435)2.04629516
87Increased muscle lipid content (HP:0009058)2.04293425
88Exercise intolerance (HP:0003546)2.02952827
89Round ear (HP:0100830)2.02677005
90Lower limb amyotrophy (HP:0007210)2.01399687
91Abnormality of the calcaneus (HP:0008364)2.00625600
92Muscular dystrophy (HP:0003560)1.99770414
93Popliteal pterygium (HP:0009756)1.98961251
94Foot dorsiflexor weakness (HP:0009027)1.97964076
95Hypoplastic ischia (HP:0003175)1.97731830
96Pheochromocytoma (HP:0002666)1.96932842
97Increased CSF lactate (HP:0002490)1.96648985
98Congestive heart failure (HP:0001635)1.96576414
99Respiratory insufficiency due to muscle weakness (HP:0002747)1.95595751
100Myopathic facies (HP:0002058)1.93465213
101Waddling gait (HP:0002515)1.91293066
102Dicarboxylic aciduria (HP:0003215)1.90958147
103Abnormality of dicarboxylic acid metabolism (HP:0010995)1.90958147
104Abnormality of fatty-acid metabolism (HP:0004359)1.89781964
105Spinal rigidity (HP:0003306)1.89639993
106Progressive muscle weakness (HP:0003323)1.88188193
107Facial diplegia (HP:0001349)1.88120334
108Cerebral edema (HP:0002181)1.87407859
109Dysmetric saccades (HP:0000641)1.85318789
110Hamartoma of the eye (HP:0010568)1.82728573
111Neoplasm of the adrenal gland (HP:0100631)1.82710437
112Increased intramyocellular lipid droplets (HP:0012240)1.82361048
113Steppage gait (HP:0003376)1.78482991
114Lactic acidosis (HP:0003128)1.77411454
115Frequent falls (HP:0002359)1.76898805
116Neuroendocrine neoplasm (HP:0100634)1.74953551
117Hip contracture (HP:0003273)1.73442883
118Proximal amyotrophy (HP:0007126)1.73401952
119Limited hip movement (HP:0008800)1.72603980
120Hyperalaninemia (HP:0003348)1.72071435
121Slender build (HP:0001533)1.71941298
122Type 2 muscle fiber atrophy (HP:0003554)1.69005649
123Hypoplastic heart (HP:0001961)1.61110575
124Hyperkalemia (HP:0002153)1.60947685
125Aplasia of the musculature (HP:0100854)1.59695823
126Metatarsus adductus (HP:0001840)1.59380823
127Muscle fiber atrophy (HP:0100295)1.53184572
128Limb-girdle muscle weakness (HP:0003325)1.53131213

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.15216483
2TTN5.61221920
3PHKG14.00826538
4PHKG24.00826538
5MYLK3.75480816
6LMTK23.35618333
7DMPK3.21326331
8PDK33.20665070
9PDK43.20665070
10PKN23.13949181
11TRIB32.62954339
12STK242.46755520
13NEK12.46533247
14MUSK2.35779546
15PIK3CA2.30835052
16TIE12.07742567
17BCKDK1.96207723
18PDK21.91575370
19PINK11.88981815
20ILK1.35400465
21MARK11.35127197
22ZAK1.34707810
23CDC42BPA1.22843650
24PAK31.22239723
25PRKD11.19932495
26MAP3K71.18192469
27GRK71.16971774
28CAMK2D1.15510367
29MAPK121.11381992
30STK38L1.08330151
31ROCK11.07579697
32EEF2K1.02993598
33MAP2K30.95479801
34CCNB10.92566241
35TRPM70.90644350
36MAP3K50.90494904
37DAPK30.87088628
38MAPKAPK30.85694833
39PIK3CG0.85299513
40PRKAA10.85126178
41STK40.84433140
42RIPK10.84396761
43FLT30.83586909
44WNK40.82955599
45PRKAA20.78358008
46NME10.77490480
47INSRR0.77056511
48MOS0.74309380
49MAP3K30.73311709
50STK380.71141075
51PKN10.69733645
52MAPK40.69342200
53CAMK40.64702074
54PTK2B0.64614615
55KSR20.61034515
56PDGFRA0.60199339
57CAMK2A0.58673592
58CAMK2B0.58198966
59ROCK20.57268426
60CAMK10.56356555
61ERBB30.55130277
62WNK10.54387015
63EPHA30.51944568
64MAP2K10.51799382
65MAP3K60.50055135
66PRKACB0.49844620
67KDR0.49721995
68DYRK1B0.48371097
69RPS6KC10.47682784
70RPS6KL10.47682784
71TGFBR20.47546267
72AKT20.44962670
73UHMK10.43456131
74PRKD30.40560718
75PRKACA0.39430032
76RPS6KA60.38925806
77PRKCE0.38791584
78ICK0.37965475
79EPHB10.37941380
80CAMK2G0.36776836
81PDPK10.34515745
82PRKACG0.34178543
83MAPK100.31692666
84MARK20.29482038
85PDK10.29198090
86NEK90.29044814
87STK390.28477052
88PRKCH0.27817535
89MAP3K130.27333891
90PTK60.26460448
91ARAF0.25515413
92RAF10.25099535
93SIK10.24956778
94LATS20.24469563
95SGK30.23353639
96PRKG10.22999043
97TAOK10.22707098
98MAP2K40.22684828
99TBK10.21044589
100RPS6KA10.19740604
101MAP3K100.19569429
102SGK10.19479348
103LATS10.19240745
104DDR20.19049424
105SGK2230.18989359
106SGK4940.18989359
107EPHB20.18637477
108FER0.17832686
109MAPK110.17270644
110STK110.17254788
111PRKG20.17199218
112RPS6KA30.17009149
113LIMK10.16796938
114MAPK70.16115820
115RPS6KB20.15839890
116MTOR0.15420573
117RET0.14314516
118MAP2K60.13646681
119PAK60.12875703
120RPS6KA20.10811120
121JAK10.08041729
122MAP3K10.07231924
123MARK30.07192487
124SGK20.06780304

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.89149797
2Cardiac muscle contraction_Homo sapiens_hsa042604.75397226
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.25399662
4Dilated cardiomyopathy_Homo sapiens_hsa054144.16805634
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.12733513
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.13667782
7Parkinsons disease_Homo sapiens_hsa050123.10937441
8Oxidative phosphorylation_Homo sapiens_hsa001902.93267252
9Propanoate metabolism_Homo sapiens_hsa006402.86615410
10Fatty acid degradation_Homo sapiens_hsa000712.53036318
11* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.47825021
12Carbon metabolism_Homo sapiens_hsa012002.41569367
13Alzheimers disease_Homo sapiens_hsa050102.28457500
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.10053448
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.00855317
16Huntingtons disease_Homo sapiens_hsa050161.91210114
17Fatty acid metabolism_Homo sapiens_hsa012121.89222113
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.85618298
19Viral myocarditis_Homo sapiens_hsa054161.79142281
20Pyruvate metabolism_Homo sapiens_hsa006201.62988766
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.35526383
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.31665483
23cGMP-PKG signaling pathway_Homo sapiens_hsa040221.20141519
24Biosynthesis of amino acids_Homo sapiens_hsa012301.18459012
25Glucagon signaling pathway_Homo sapiens_hsa049221.17313581
26Butanoate metabolism_Homo sapiens_hsa006501.14845520
27Insulin resistance_Homo sapiens_hsa049311.11011468
28Starch and sucrose metabolism_Homo sapiens_hsa005001.09270595
29Fatty acid elongation_Homo sapiens_hsa000621.02810572
30Insulin signaling pathway_Homo sapiens_hsa049100.99703540
31Pentose phosphate pathway_Homo sapiens_hsa000300.98375436
32Adipocytokine signaling pathway_Homo sapiens_hsa049200.95602800
33Calcium signaling pathway_Homo sapiens_hsa040200.95473431
34Oxytocin signaling pathway_Homo sapiens_hsa049210.88356961
35PPAR signaling pathway_Homo sapiens_hsa033200.86184341
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.82860428
37HIF-1 signaling pathway_Homo sapiens_hsa040660.82092871
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.79104616
39Vascular smooth muscle contraction_Homo sapiens_hsa042700.74515159
40* Focal adhesion_Homo sapiens_hsa045100.73073619
41AMPK signaling pathway_Homo sapiens_hsa041520.71480895
42Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.69925690
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.69226674
44Galactose metabolism_Homo sapiens_hsa000520.68796296
45Type II diabetes mellitus_Homo sapiens_hsa049300.68458152
46Lysine degradation_Homo sapiens_hsa003100.67986623
47* Tight junction_Homo sapiens_hsa045300.66026461
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62479468
49Central carbon metabolism in cancer_Homo sapiens_hsa052300.60314190
50Arginine biosynthesis_Homo sapiens_hsa002200.59078448
51Amphetamine addiction_Homo sapiens_hsa050310.58663208
52beta-Alanine metabolism_Homo sapiens_hsa004100.58297547
53Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57214486
54Renin secretion_Homo sapiens_hsa049240.56963027
55Tryptophan metabolism_Homo sapiens_hsa003800.55733190
56Fructose and mannose metabolism_Homo sapiens_hsa000510.55411975
57Arginine and proline metabolism_Homo sapiens_hsa003300.55241161
58Gastric acid secretion_Homo sapiens_hsa049710.51400997
59Insulin secretion_Homo sapiens_hsa049110.50654776
60cAMP signaling pathway_Homo sapiens_hsa040240.50269412
61ECM-receptor interaction_Homo sapiens_hsa045120.48082453
62Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47215801
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46924982
64Phenylalanine metabolism_Homo sapiens_hsa003600.46278722
65Circadian entrainment_Homo sapiens_hsa047130.45755871
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44220326
67Circadian rhythm_Homo sapiens_hsa047100.41564362
68Fatty acid biosynthesis_Homo sapiens_hsa000610.41339702
69Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37558661
70Aldosterone synthesis and secretion_Homo sapiens_hsa049250.37429870
71Olfactory transduction_Homo sapiens_hsa047400.28101156
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27357730
73GnRH signaling pathway_Homo sapiens_hsa049120.27049339
74GABAergic synapse_Homo sapiens_hsa047270.25926484
75Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.25273934
76Peroxisome_Homo sapiens_hsa041460.24242773
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24223741
78Proteoglycans in cancer_Homo sapiens_hsa052050.23641612
79Nitrogen metabolism_Homo sapiens_hsa009100.21679088
80mTOR signaling pathway_Homo sapiens_hsa041500.21574055
81Cholinergic synapse_Homo sapiens_hsa047250.20822022
82Dopaminergic synapse_Homo sapiens_hsa047280.20021383
83Regulation of autophagy_Homo sapiens_hsa041400.19296374
84Platelet activation_Homo sapiens_hsa046110.18813539
85Renal cell carcinoma_Homo sapiens_hsa052110.18493923
86Gap junction_Homo sapiens_hsa045400.17542087
87Metabolic pathways_Homo sapiens_hsa011000.17202076
88VEGF signaling pathway_Homo sapiens_hsa043700.17176894
89* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.17012862
90Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.16374685
91Protein digestion and absorption_Homo sapiens_hsa049740.15755933
92Glioma_Homo sapiens_hsa052140.15328356
93Ovarian steroidogenesis_Homo sapiens_hsa049130.15252780
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.15226211
95Endometrial cancer_Homo sapiens_hsa052130.14635235
96Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.14179281
97Cysteine and methionine metabolism_Homo sapiens_hsa002700.13950326
98* Amoebiasis_Homo sapiens_hsa051460.13418592
99* Adherens junction_Homo sapiens_hsa045200.13064535
100Taste transduction_Homo sapiens_hsa047420.12111165
101Pancreatic secretion_Homo sapiens_hsa049720.12094465
102Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.11233546
103Salivary secretion_Homo sapiens_hsa049700.10890059
104FoxO signaling pathway_Homo sapiens_hsa040680.09240199
105Dorso-ventral axis formation_Homo sapiens_hsa043200.08962342
106MAPK signaling pathway_Homo sapiens_hsa040100.08122163
107Long-term potentiation_Homo sapiens_hsa047200.07496935
108* Leukocyte transendothelial migration_Homo sapiens_hsa046700.07327632
109Tyrosine metabolism_Homo sapiens_hsa003500.06498965
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.04951260
111Melanogenesis_Homo sapiens_hsa049160.04506201
112Morphine addiction_Homo sapiens_hsa050320.04282044
113Estrogen signaling pathway_Homo sapiens_hsa049150.03303453
114Bile secretion_Homo sapiens_hsa049760.02510068

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