PPP2R3B

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: Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)8.83416054
2muscle filament sliding (GO:0030049)8.83416054
3actin-mediated cell contraction (GO:0070252)7.12743911
4skeletal muscle contraction (GO:0003009)6.58182036
5sarcoplasmic reticulum calcium ion transport (GO:0070296)6.37063851
6sarcomere organization (GO:0045214)6.30057562
7myofibril assembly (GO:0030239)6.22740140
8regulation of skeletal muscle contraction (GO:0014819)6.02057540
9striated muscle contraction (GO:0006941)5.91887629
10cardiac myofibril assembly (GO:0055003)5.68812945
11negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.61930184
12response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.20524026
13negative regulation of potassium ion transmembrane transport (GO:1901380)5.11142248
14actin filament-based movement (GO:0030048)5.00627432
15cardiac muscle contraction (GO:0060048)4.86801115
16response to inactivity (GO:0014854)4.82642208
17regulation of relaxation of muscle (GO:1901077)4.70372983
18skeletal muscle fiber development (GO:0048741)4.55581399
19negative regulation of potassium ion transport (GO:0043267)4.45915702
20actomyosin structure organization (GO:0031032)4.33852326
213-UTR-mediated mRNA stabilization (GO:0070935)4.30774623
22muscle cell fate commitment (GO:0042693)4.21067962
23regulation of the force of heart contraction (GO:0002026)4.20014339
24positive regulation of cell size (GO:0045793)4.12642571
25negative regulation of cell size (GO:0045792)4.10642292
26cardiac muscle hypertrophy (GO:0003300)4.06420574
27creatine metabolic process (GO:0006600)4.04126672
28myotube cell development (GO:0014904)3.97797408
29muscle contraction (GO:0006936)3.95909392
30adult heart development (GO:0007512)3.91446190
31myoblast fusion (GO:0007520)3.89137442
32striated muscle hypertrophy (GO:0014897)3.82477797
33regulation of nuclear cell cycle DNA replication (GO:0033262)3.81864544
34chromatin silencing (GO:0006342)3.80505527
35regulation of actin filament-based movement (GO:1903115)3.79089986
36regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.78485929
37diaphragm development (GO:0060539)3.77765340
38positive regulation of myotube differentiation (GO:0010831)3.76685551
39cardiac muscle cell development (GO:0055013)3.76064314
40cardiac muscle tissue morphogenesis (GO:0055008)3.74988949
41muscle organ development (GO:0007517)3.73051736
42muscle structure development (GO:0061061)3.71005651
43response to muscle activity (GO:0014850)3.69338649
44muscle tissue morphogenesis (GO:0060415)3.68967991
45nucleotide salvage (GO:0043173)3.68714424
46arginine catabolic process (GO:0006527)3.65387304
47cardiac cell development (GO:0055006)3.60126163
48mitochondrial genome maintenance (GO:0000002)3.57673695
49skeletal muscle organ development (GO:0060538)3.56579413
50regulation of striated muscle contraction (GO:0006942)3.55130769
51muscle system process (GO:0003012)3.52719661
52muscle fiber development (GO:0048747)3.49945839
53regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.48097429
54muscle hypertrophy (GO:0014896)3.41747885
55positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)3.39641189
56syncytium formation by plasma membrane fusion (GO:0000768)3.38273405
57striated muscle adaptation (GO:0014888)3.37370519
58planar cell polarity pathway involved in neural tube closure (GO:0090179)3.34172098
59striated muscle cell development (GO:0055002)3.26356623
60regulation of sequestering of triglyceride (GO:0010889)3.25026228
61cellular protein complex localization (GO:0034629)3.19050080
62cardiac muscle hypertrophy in response to stress (GO:0014898)3.18070417
63muscle hypertrophy in response to stress (GO:0003299)3.18070417
64cardiac muscle adaptation (GO:0014887)3.18070417
65pyrimidine-containing compound salvage (GO:0008655)3.16726082
66pyrimidine nucleoside salvage (GO:0043097)3.16726082
67positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.13865243
68negative regulation of calcium ion transport into cytosol (GO:0010523)3.11430032
69ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.10808353
70positive regulation of sodium ion transmembrane transport (GO:1902307)3.08508507
71regulation of stem cell maintenance (GO:2000036)3.08405132
72muscle cell development (GO:0055001)3.07867844
73regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.00091516
74regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.99620965
75skeletal muscle adaptation (GO:0043501)2.98887990
76ncRNA 3-end processing (GO:0043628)2.97443431
77regulation of posttranscriptional gene silencing (GO:0060147)2.96331985
78regulation of gene silencing by miRNA (GO:0060964)2.96331985
79regulation of gene silencing by RNA (GO:0060966)2.96331985
80response to caffeine (GO:0031000)2.95759280
81skeletal muscle tissue development (GO:0007519)2.94472359
82negative regulation of gene expression, epigenetic (GO:0045814)2.92287819
832-oxoglutarate metabolic process (GO:0006103)2.92135787
84pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)2.91296125
85UMP biosynthetic process (GO:0006222)2.91296125
86pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)2.91296125
87UMP metabolic process (GO:0046049)2.91296125
88RNA stabilization (GO:0043489)2.87642169
89mRNA stabilization (GO:0048255)2.87642169
90activation of MAPKKK activity (GO:0000185)2.87618253
91plasma membrane repair (GO:0001778)2.87450815
92striated muscle atrophy (GO:0014891)2.85034215
93regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.84822938
94arginine metabolic process (GO:0006525)2.83345072
95atrial septum morphogenesis (GO:0060413)2.81838596
96positive regulation of myoblast differentiation (GO:0045663)2.81605892
97regulation of membrane repolarization (GO:0060306)2.80850295
98histone H3-K4 methylation (GO:0051568)2.76459234
99regulation of myotube differentiation (GO:0010830)2.71778566
100cardiac chamber formation (GO:0003207)2.70870536

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.84030387
2E2F7_22180533_ChIP-Seq_HELA_Human3.05806334
3MYC_22102868_ChIP-Seq_BL_Human2.75378334
4TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.72183691
5STAT6_21828071_ChIP-Seq_BEAS2B_Human2.69547274
6LXR_22292898_ChIP-Seq_THP-1_Human2.49993258
7P68_20966046_ChIP-Seq_HELA_Human2.42462141
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.41270782
9SMC4_20622854_ChIP-Seq_HELA_Human2.31456873
10KDM2B_26808549_Chip-Seq_DND41_Human2.27646947
11MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.27595492
12VDR_21846776_ChIP-Seq_THP-1_Human2.26500263
13KDM2B_26808549_Chip-Seq_SUP-B15_Human2.19951251
14TET1_21451524_ChIP-Seq_MESCs_Mouse2.01090364
15RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.97845804
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.91742614
17DROSHA_22980978_ChIP-Seq_HELA_Human1.88726772
18CTCF_27219007_Chip-Seq_Bcells_Human1.87694365
19ERG_21242973_ChIP-ChIP_JURKAT_Human1.87445056
20CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.81228056
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.78286768
22SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.77725862
23KDM2B_26808549_Chip-Seq_K562_Human1.76586274
24EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.73726682
25SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.65810795
26TCF7_22412390_ChIP-Seq_EML_Mouse1.63777015
27SA1_27219007_Chip-Seq_ERYTHROID_Human1.63173359
28TBX20_22328084_ChIP-Seq_HEART_Mouse1.60456311
29TBX20_22080862_ChIP-Seq_HEART_Mouse1.60456311
30KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.56585371
31CTCF_21964334_ChIP-Seq_BJAB-B_Human1.53524263
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.53224570
33YY1_22570637_ChIP-Seq_MALME-3M_Human1.52256659
34ZFP281_18757296_ChIP-ChIP_E14_Mouse1.52146357
35RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.51999974
36BCL6_27268052_Chip-Seq_Bcells_Human1.50629852
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.47733862
38PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.45723088
39KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.45065612
40MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.41877750
41E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.41608007
42ZFP281_27345836_Chip-Seq_ESCs_Mouse1.38980412
43SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.38302754
44BCOR_27268052_Chip-Seq_Bcells_Human1.37847141
45PHF8_20622854_ChIP-Seq_HELA_Human1.35978038
46EZH2_27294783_Chip-Seq_ESCs_Mouse1.35898319
47MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.35475135
48OCT4_19829295_ChIP-Seq_ESCs_Human1.34806490
49CTCF_26484167_Chip-Seq_Bcells_Mouse1.32744610
50CTCF_21964334_Chip-Seq_Bcells_Human1.32119816
51E2F1_20622854_ChIP-Seq_HELA_Human1.30886135
52ELK3_25401928_ChIP-Seq_HUVEC_Human1.30402234
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.28957365
54BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.27732050
55MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.26875577
56RACK7_27058665_Chip-Seq_MCF-7_Human1.25614076
57KDM2B_26808549_Chip-Seq_JURKAT_Human1.25356776
58CREB1_26743006_Chip-Seq_LNCaP_Human1.23687818
59SUZ12_27294783_Chip-Seq_ESCs_Mouse1.22636629
60ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.22140587
61TP63_22573176_ChIP-Seq_HFKS_Human1.21153569
62CTCF_27219007_Chip-Seq_ERYTHROID_Human1.20362873
63EZH2_27304074_Chip-Seq_ESCs_Mouse1.19610382
64MAF_26560356_Chip-Seq_TH2_Human1.18800395
65CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.18367056
66RARB_24833708_ChIP-Seq_LIVER_Mouse1.17172739
67* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16546118
68MYC_27129775_Chip-Seq_CORNEA_Mouse1.15962345
69EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.14230083
70DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13015853
71SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.12578248
72ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.11819201
73TP53_23651856_ChIP-Seq_MEFs_Mouse1.11258645
74ELF1_20517297_ChIP-Seq_JURKAT_Human1.08572634
75* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.06712682
76ETS1_21867929_ChIP-Seq_TH2_Mouse1.05363435
77STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04943706
78CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.04514751
79SMC3_22415368_ChIP-Seq_MEFs_Mouse1.04292322
80SA1_27219007_Chip-Seq_Bcells_Human1.04014221
81FOXP1_21924763_ChIP-Seq_HESCs_Human1.03774717
82SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.03452341
83RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.02285904
84JARID2_20064375_ChIP-Seq_MESCs_Mouse1.02231944
85OCT4_20526341_ChIP-Seq_ESCs_Human1.02018739
86UTX_26944678_Chip-Seq_JUKART_Human1.01734223
87DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.01151015
88RNF2_27304074_Chip-Seq_ESCs_Mouse1.01022598
89NFIB_24661679_ChIP-Seq_LUNG_Mouse1.00588960
90JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97036683
91TP53_22127205_ChIP-Seq_IMR90_Human0.96808586
92SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.96775714
93SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95193292
94RARA_24833708_ChIP-Seq_LIVER_Mouse0.95014964
95GATA1_19941827_ChIP-Seq_MEL_Mouse0.94812236
96NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.94740343
97CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94281344
98ERA_21632823_ChIP-Seq_H3396_Human0.93800786
99SMAD4_21741376_ChIP-Seq_ESCs_Human0.92721328
100PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.92255990

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue7.93390749
2MP0000751_myopathy4.64895600
3MP0004145_abnormal_muscle_electrophysio4.08165179
4MP0004084_abnormal_cardiac_muscle4.03237879
5MP0004036_abnormal_muscle_relaxation3.79406078
6MP0004233_abnormal_muscle_weight3.76867649
7MP0000566_synostosis3.74415182
8MP0000749_muscle_degeneration3.69480966
9MP0002837_dystrophic_cardiac_calcinosis2.81350905
10MP0002106_abnormal_muscle_physiology2.77418823
11MP0002234_abnormal_pharynx_morphology2.72572667
12MP0004087_abnormal_muscle_fiber2.62632906
13MP0000750_abnormal_muscle_regeneration2.50412655
14MP0000759_abnormal_skeletal_muscle2.39366420
15MP0005369_muscle_phenotype2.37098370
16MP0000733_abnormal_muscle_development2.35078888
17MP0004858_abnormal_nervous_system2.25764946
18MP0000747_muscle_weakness2.23725415
19MP0004130_abnormal_muscle_cell2.22830625
20MP0005330_cardiomyopathy2.08768893
21MP0005620_abnormal_muscle_contractility1.94840408
22MP0002269_muscular_atrophy1.94813080
23MP0010368_abnormal_lymphatic_system1.91690719
24MP0002127_abnormal_cardiovascular_syste1.84225983
25MP0004043_abnormal_pH_regulation1.80015006
26MP0010630_abnormal_cardiac_muscle1.77268577
27MP0002972_abnormal_cardiac_muscle1.68116349
28MP0006138_congestive_heart_failure1.65197685
29MP0004484_altered_response_of1.57684119
30MP0002108_abnormal_muscle_morphology1.54584135
31MP0004215_abnormal_myocardial_fiber1.52440095
32MP0008775_abnormal_heart_ventricle1.50905277
33MP0010030_abnormal_orbit_morphology1.44713626
34MP0003283_abnormal_digestive_organ1.41821569
35MP0005645_abnormal_hypothalamus_physiol1.41472508
36MP0002249_abnormal_larynx_morphology1.40214749
37MP0005670_abnormal_white_adipose1.39769813
38MP0000013_abnormal_adipose_tissue1.35841082
39MP0005167_abnormal_blood-brain_barrier1.31600994
40MP0001661_extended_life_span1.23907813
41MP0005385_cardiovascular_system_phenoty1.20929532
42MP0001544_abnormal_cardiovascular_syste1.20929532
43MP0003045_fibrosis1.17036269
44MP0003137_abnormal_impulse_conducting1.16157325
45MP0008877_abnormal_DNA_methylation1.15161746
46MP0009053_abnormal_anal_canal1.05645796
47MP0002332_abnormal_exercise_endurance1.05500204
48MP0005076_abnormal_cell_differentiation1.04942179
49MP0005451_abnormal_body_composition0.98829994
50MP0004185_abnormal_adipocyte_glucose0.96251582
51MP0004133_heterotaxia0.92655019
52MP0002009_preneoplasia0.89196930
53MP0002116_abnormal_craniofacial_bone0.84544405
54MP0003937_abnormal_limbs/digits/tail_de0.84322124
55MP0000003_abnormal_adipose_tissue0.83929095
56MP0009672_abnormal_birth_weight0.79638437
57MP0000467_abnormal_esophagus_morphology0.78233060
58MP0000266_abnormal_heart_morphology0.76683159
59MP0002163_abnormal_gland_morphology0.75113605
60MP0006036_abnormal_mitochondrial_physio0.71559877
61MP0000049_abnormal_middle_ear0.69294093
62MP0004510_myositis0.69079947
63MP0003942_abnormal_urinary_system0.68572546
64MP0009384_cardiac_valve_regurgitation0.67263043
65MP0002396_abnormal_hematopoietic_system0.65033863
66MP0004085_abnormal_heartbeat0.63122307
67MP0002233_abnormal_nose_morphology0.62655477
68MP0005266_abnormal_metabolism0.62309500
69MP0001879_abnormal_lymphatic_vessel0.61036553
70MP0000767_abnormal_smooth_muscle0.60752544
71MP0002114_abnormal_axial_skeleton0.59924944
72MP0009250_abnormal_appendicular_skeleto0.59654819
73MP0002210_abnormal_sex_determination0.59144707
74MP0003136_yellow_coat_color0.57276576
75MP0002932_abnormal_joint_morphology0.54311115
76MP0000432_abnormal_head_morphology0.53375941
77MP0000470_abnormal_stomach_morphology0.52703198
78MP0000631_abnormal_neuroendocrine_gland0.51366755
79MP0000428_abnormal_craniofacial_morphol0.51351719
80MP0003119_abnormal_digestive_system0.51011289
81MP0005375_adipose_tissue_phenotype0.50067687
82MP0005666_abnormal_adipose_tissue0.49631041
83MP0002109_abnormal_limb_morphology0.47940142
84MP0003693_abnormal_embryo_hatching0.47844006
85MP0000537_abnormal_urethra_morphology0.47182081
86MP0002128_abnormal_blood_circulation0.46036028
87MP0008058_abnormal_DNA_repair0.45015781
88MP0002925_abnormal_cardiovascular_devel0.44669732
89MP0000678_abnormal_parathyroid_gland0.44010673
90MP0001346_abnormal_lacrimal_gland0.43687454
91MP0003984_embryonic_growth_retardation0.43172008
92MP0009278_abnormal_bone_marrow0.42104015
93MP0008872_abnormal_physiological_respon0.40975664
94MP0004197_abnormal_fetal_growth/weight/0.40547111
95MP0003935_abnormal_craniofacial_develop0.39978655
96MP0010307_abnormal_tumor_latency0.39759258
97MP0000955_abnormal_spinal_cord0.38684740
98MP0002088_abnormal_embryonic_growth/wei0.38546421
99MP0003705_abnormal_hypodermis_morpholog0.38126647
100MP0001784_abnormal_fluid_regulation0.36825930

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)7.28569363
2Nemaline bodies (HP:0003798)7.26371623
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.11971121
4Type 1 muscle fiber predominance (HP:0003803)6.15695915
5Exercise-induced myalgia (HP:0003738)5.73723822
6Distal arthrogryposis (HP:0005684)5.33788335
7Myopathic facies (HP:0002058)5.02483338
8Muscle hypertrophy of the lower extremities (HP:0008968)5.00956930
9Calf muscle hypertrophy (HP:0008981)4.64947261
10Exercise-induced muscle cramps (HP:0003710)4.59156699
11Round ear (HP:0100830)4.58465687
12Muscle fiber splitting (HP:0003555)4.28378983
13Calcaneovalgus deformity (HP:0001848)4.17103563
14Hyporeflexia of lower limbs (HP:0002600)4.16117961
15Ulnar deviation of the wrist (HP:0003049)4.08797007
16Subaortic stenosis (HP:0001682)4.06523628
17Abnormality of the left ventricular outflow tract (HP:0011103)4.06523628
18EMG: myopathic abnormalities (HP:0003458)3.99666118
19Sudden death (HP:0001699)3.98340042
20Abnormality of the calf musculature (HP:0001430)3.89716050
21Popliteal pterygium (HP:0009756)3.72176876
22Deformed tarsal bones (HP:0008119)3.71276584
23Centrally nucleated skeletal muscle fibers (HP:0003687)3.67973416
24Bundle branch block (HP:0011710)3.43593237
25Lip pit (HP:0100267)3.36759267
26Absent phalangeal crease (HP:0006109)3.34967847
27Depressed nasal tip (HP:0000437)3.27267782
28Fetal akinesia sequence (HP:0001989)3.25306782
29Rimmed vacuoles (HP:0003805)3.20655900
30Abnormality of the fingertips (HP:0001211)3.04849817
31Abnormality of skeletal muscle fiber size (HP:0012084)3.00975926
32Ventricular tachycardia (HP:0004756)2.88021619
33Neck muscle weakness (HP:0000467)2.87179682
34Abnormality of the calcaneus (HP:0008364)2.85267279
35Malignant hyperthermia (HP:0002047)2.84240666
36Myoglobinuria (HP:0002913)2.82986518
37Intestinal fistula (HP:0100819)2.81652167
38Increased variability in muscle fiber diameter (HP:0003557)2.75914425
39Increased connective tissue (HP:0009025)2.75001436
40Anal stenosis (HP:0002025)2.73254917
41Difficulty running (HP:0009046)2.71643611
42Rhabdomyolysis (HP:0003201)2.67786461
43Distal lower limb muscle weakness (HP:0009053)2.67423551
44EMG: neuropathic changes (HP:0003445)2.64462665
45Abnormal finger flexion creases (HP:0006143)2.63984396
46Frequent falls (HP:0002359)2.62846611
47Asymmetric septal hypertrophy (HP:0001670)2.62472929
48Lipoatrophy (HP:0100578)2.61900420
49Sparse lateral eyebrow (HP:0005338)2.60865343
50Myotonia (HP:0002486)2.60564768
51Generalized muscle weakness (HP:0003324)2.58882339
52Areflexia of lower limbs (HP:0002522)2.55370989
53Thin ribs (HP:0000883)2.53946891
54Bulbar palsy (HP:0001283)2.53468495
55Fatigable weakness (HP:0003473)2.43459322
56Abnormality of the neuromuscular junction (HP:0003398)2.43459322
57Dilated cardiomyopathy (HP:0001644)2.42178099
58Ectopic kidney (HP:0000086)2.39819937
59Hip contracture (HP:0003273)2.38647322
60Weak cry (HP:0001612)2.33554060
61Progressive muscle weakness (HP:0003323)2.33141249
62Periauricular skin pits (HP:0100277)2.25957445
63Preauricular pit (HP:0004467)2.25957445
64Heart block (HP:0012722)2.21001019
65Autoimmune thrombocytopenia (HP:0001973)2.19097913
66Difficulty climbing stairs (HP:0003551)2.17676577
67Atrial fibrillation (HP:0005110)2.16072428
68Mildly elevated creatine phosphokinase (HP:0008180)2.14827569
69Type 2 muscle fiber atrophy (HP:0003554)2.14683453
70Congenital hip dislocation (HP:0001374)2.14618615
71Scapular winging (HP:0003691)2.13177763
72Short 5th finger (HP:0009237)2.11480143
73Muscle fiber atrophy (HP:0100295)2.09675780
74Gowers sign (HP:0003391)2.09092373
75Aplasia of the musculature (HP:0100854)2.07321733
76Muscle stiffness (HP:0003552)2.03122263
77Easy fatigability (HP:0003388)1.99557600
78Abnormal atrioventricular conduction (HP:0005150)1.99005765
79Pterygium (HP:0001059)1.96826995
80Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.96112537
81Waddling gait (HP:0002515)1.95745791
82Trismus (HP:0000211)1.93775480
83Hypoplastic ischia (HP:0003175)1.91266818
84Metatarsus adductus (HP:0001840)1.90320785
85Primary atrial arrhythmia (HP:0001692)1.89035583
86Mask-like facies (HP:0000298)1.88947259
87Aplasia/Hypoplasia involving the musculature (HP:0001460)1.86169521
88Supraventricular tachycardia (HP:0004755)1.84396617
89Ventricular arrhythmia (HP:0004308)1.83621782
90Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.82768756
91Left ventricular hypertrophy (HP:0001712)1.80486013
92Supraventricular arrhythmia (HP:0005115)1.78771622
93Ragged-red muscle fibers (HP:0003200)1.78070647
94Muscular dystrophy (HP:0003560)1.76070378
95Dysmetric saccades (HP:0000641)1.71954814
96Nonprogressive disorder (HP:0003680)1.70267683
97Abnormality of cochlea (HP:0000375)1.68232573
98Abnormality of the shoulder girdle musculature (HP:0001435)1.66426447
99Amniotic constriction ring (HP:0009775)1.66317606
100Abnormality of placental membranes (HP:0011409)1.66317606

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN5.61339849
2STK244.60599468
3EEF2K4.17711829
4TTN4.16582730
5MAP3K103.14742339
6PHKG13.11451953
7PHKG23.11451953
8PINK12.92788521
9WNK42.65748097
10CCNB12.56465701
11MUSK2.55954529
12MAPKAPK32.20190546
13TRIB32.14854098
14STK391.94400864
15MAP3K31.79851659
16ZAK1.78315748
17MAP2K31.60173453
18RPS6KL11.57813678
19RPS6KC11.57813678
20RPS6KA61.54129867
21MAPK121.50660744
22CAMK41.43438080
23CAMK11.42451452
24TRPM71.41850580
25ILK1.31422384
26MAP3K71.26352570
27RPS6KB21.23899751
28PIK3CG1.22647130
29JAK31.17507392
30CDC71.15196094
31CHEK21.13371108
32MAP3K21.10821633
33PNCK1.09035036
34NTRK21.07799422
35WNK10.94960472
36TLK10.88804661
37TNK20.85603494
38BMX0.84073817
39MAPK110.83316098
40CAMK1G0.81477731
41RPS6KA20.80895147
42MAP3K110.78811505
43NEK90.74719676
44KDR0.74375095
45SMG10.72424975
46PRKAA10.70222605
47TYRO30.69394848
48DMPK0.68982399
49CDK190.67622325
50MTOR0.67081742
51BCKDK0.66830055
52PRKCQ0.66195725
53ICK0.63751431
54CDK90.62983349
55MAP2K20.62108489
56MAP4K10.61034001
57STK40.60861460
58RPS6KA10.53885240
59PKN20.53617184
60NME10.50988423
61CDK40.50142223
62CDK120.49995211
63TIE10.46227484
64MAPKAPK50.46032353
65AKT20.43673191
66MAP2K40.43274846
67MAP2K60.43181105
68PIK3CA0.42183937
69MARK20.41466684
70MAP2K10.40147609
71SIK10.39609184
72PRKAA20.37498808
73RPS6KB10.36618963
74PASK0.35004873
75DYRK1B0.32442158
76CAMK1D0.30540453
77FGFR20.29848799
78ROCK10.29491427
79MAPK150.28569899
80PRPF4B0.28352689
81MAPK70.28030557
82CDK20.27532235
83ATR0.27118063
84AURKA0.25215391
85AKT10.24925436
86PRKD10.23680680
87CDK70.22667570
88TTK0.22187900
89MAPK90.21836333
90CAMK2A0.20705240
91CAMK2D0.20696264
92SIK20.20087010
93PKN10.19845194
94VRK20.19576246
95PRKACA0.19478020
96CAMKK10.19413250
97NEK20.19356309
98MAPK130.17170481
99MARK10.16525388
100CDK10.16311768

Predicted pathways (KEGG)

RankGene SetZ-score
1Dilated cardiomyopathy_Homo sapiens_hsa054143.95621198
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.89148579
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.80839426
4Cardiac muscle contraction_Homo sapiens_hsa042603.66541230
5Arginine biosynthesis_Homo sapiens_hsa002203.52678617
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.78742865
7Lysine degradation_Homo sapiens_hsa003102.56870595
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.39959755
9Sulfur relay system_Homo sapiens_hsa041222.38758140
10* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.16495704
11Insulin signaling pathway_Homo sapiens_hsa049101.97806551
12Arginine and proline metabolism_Homo sapiens_hsa003301.73310187
13Glucagon signaling pathway_Homo sapiens_hsa049221.67502819
14DNA replication_Homo sapiens_hsa030301.62982490
15Oxytocin signaling pathway_Homo sapiens_hsa049211.60575147
16* AMPK signaling pathway_Homo sapiens_hsa041521.56775178
17Calcium signaling pathway_Homo sapiens_hsa040201.53934613
18Cyanoamino acid metabolism_Homo sapiens_hsa004601.52742572
19cGMP-PKG signaling pathway_Homo sapiens_hsa040221.31431956
20Phototransduction_Homo sapiens_hsa047441.28836635
21One carbon pool by folate_Homo sapiens_hsa006701.27748417
22Biosynthesis of amino acids_Homo sapiens_hsa012301.26390654
23Basal cell carcinoma_Homo sapiens_hsa052171.23095898
24Base excision repair_Homo sapiens_hsa034101.16786168
25Longevity regulating pathway - mammal_Homo sapiens_hsa042111.15879989
26Notch signaling pathway_Homo sapiens_hsa043301.15198096
27Homologous recombination_Homo sapiens_hsa034401.12333686
28Circadian entrainment_Homo sapiens_hsa047131.11144988
29Selenocompound metabolism_Homo sapiens_hsa004501.06239808
30Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.04281026
31Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.04129844
32Insulin resistance_Homo sapiens_hsa049311.00488881
33Carbon metabolism_Homo sapiens_hsa012000.97857322
34Nucleotide excision repair_Homo sapiens_hsa034200.96052490
35Thyroid hormone signaling pathway_Homo sapiens_hsa049190.91585778
36Tight junction_Homo sapiens_hsa045300.90926393
37Fanconi anemia pathway_Homo sapiens_hsa034600.89859578
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.89082501
39Parkinsons disease_Homo sapiens_hsa050120.85636447
40Pentose phosphate pathway_Homo sapiens_hsa000300.83718743
41Vascular smooth muscle contraction_Homo sapiens_hsa042700.82167280
42Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81343225
43Hedgehog signaling pathway_Homo sapiens_hsa043400.75704716
44Hippo signaling pathway_Homo sapiens_hsa043900.75542029
45Alcoholism_Homo sapiens_hsa050340.74208864
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.73477233
47Pyrimidine metabolism_Homo sapiens_hsa002400.73149761
48Primary immunodeficiency_Homo sapiens_hsa053400.73122070
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.73066837
50Regulation of autophagy_Homo sapiens_hsa041400.72221249
51Alzheimers disease_Homo sapiens_hsa050100.70619927
52Melanogenesis_Homo sapiens_hsa049160.70148720
53* mRNA surveillance pathway_Homo sapiens_hsa030150.69597215
54Gastric acid secretion_Homo sapiens_hsa049710.68981822
55GnRH signaling pathway_Homo sapiens_hsa049120.66245917
56Adipocytokine signaling pathway_Homo sapiens_hsa049200.65257605
57MAPK signaling pathway_Homo sapiens_hsa040100.64430348
58mTOR signaling pathway_Homo sapiens_hsa041500.62158664
59Glycerophospholipid metabolism_Homo sapiens_hsa005640.60713302
60Neurotrophin signaling pathway_Homo sapiens_hsa047220.58300147
61Huntingtons disease_Homo sapiens_hsa050160.57760845
62VEGF signaling pathway_Homo sapiens_hsa043700.57501760
63Glioma_Homo sapiens_hsa052140.57063666
64Aldosterone synthesis and secretion_Homo sapiens_hsa049250.56530637
65Salivary secretion_Homo sapiens_hsa049700.54851012
66Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.54166286
67Focal adhesion_Homo sapiens_hsa045100.53649655
68cAMP signaling pathway_Homo sapiens_hsa040240.51281116
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.51059803
70Viral myocarditis_Homo sapiens_hsa054160.50999291
71Cholinergic synapse_Homo sapiens_hsa047250.49537979
72Long-term depression_Homo sapiens_hsa047300.48802730
73Insulin secretion_Homo sapiens_hsa049110.48772229
74Nitrogen metabolism_Homo sapiens_hsa009100.46139180
75Renin secretion_Homo sapiens_hsa049240.45296234
76Non-homologous end-joining_Homo sapiens_hsa034500.42015524
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.41961255
78Ovarian steroidogenesis_Homo sapiens_hsa049130.41438488
79RNA transport_Homo sapiens_hsa030130.40980427
80Circadian rhythm_Homo sapiens_hsa047100.40893183
81Purine metabolism_Homo sapiens_hsa002300.39975351
82Systemic lupus erythematosus_Homo sapiens_hsa053220.39947553
83Axon guidance_Homo sapiens_hsa043600.39110238
84Wnt signaling pathway_Homo sapiens_hsa043100.38863918
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37338107
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.36898142
87Bladder cancer_Homo sapiens_hsa052190.36621472
88Cell cycle_Homo sapiens_hsa041100.35850382
89Fructose and mannose metabolism_Homo sapiens_hsa000510.35097437
90Adherens junction_Homo sapiens_hsa045200.33795687
91HTLV-I infection_Homo sapiens_hsa051660.33564715
92Galactose metabolism_Homo sapiens_hsa000520.33087586
93Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33066267
94FoxO signaling pathway_Homo sapiens_hsa040680.32553416
95Central carbon metabolism in cancer_Homo sapiens_hsa052300.30350518
96Non-small cell lung cancer_Homo sapiens_hsa052230.29047340
97RNA polymerase_Homo sapiens_hsa030200.29011572
98Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.28904229
99Taste transduction_Homo sapiens_hsa047420.28541351
100Ribosome_Homo sapiens_hsa030100.27399107

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