PPP1R12B

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: Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.67050478
2cardiac myofibril assembly (GO:0055003)5.49499192
3sarcomere organization (GO:0045214)5.47761251
4negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.40425695
5plasma membrane repair (GO:0001778)5.27540107
6regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.25897443
7regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.21922702
8muscle filament sliding (GO:0030049)5.16191735
9actin-myosin filament sliding (GO:0033275)5.16191735
10myofibril assembly (GO:0030239)5.13145419
11negative regulation of potassium ion transmembrane transport (GO:1901380)4.90298661
12regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.83828509
13regulation of skeletal muscle contraction (GO:0014819)4.81944423
14sarcoplasmic reticulum calcium ion transport (GO:0070296)4.78891332
15regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.66282433
16cellular response to epinephrine stimulus (GO:0071872)4.60129004
17cardiac muscle contraction (GO:0060048)4.55944750
18cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.49088914
19regulation of cell communication by electrical coupling (GO:0010649)4.43400778
20actin-mediated cell contraction (GO:0070252)4.34360545
21response to epinephrine (GO:0071871)4.32739696
22regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.31488089
23regulation of relaxation of muscle (GO:1901077)4.20785327
24regulation of membrane repolarization (GO:0060306)4.10242578
25striated muscle contraction (GO:0006941)4.07039025
26cell communication by electrical coupling (GO:0010644)4.05984618
27regulation of actin filament-based movement (GO:1903115)4.02827726
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.99146872
29cell communication involved in cardiac conduction (GO:0086065)3.98374658
30actomyosin structure organization (GO:0031032)3.97352485
31cardiac muscle hypertrophy (GO:0003300)3.84606581
32ventricular cardiac muscle cell action potential (GO:0086005)3.82578814
33cardiac muscle cell development (GO:0055013)3.82061854
34cardiac chamber formation (GO:0003207)3.81669066
35negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.80234997
36positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.73232737
37striated muscle hypertrophy (GO:0014897)3.73052179
38detection of calcium ion (GO:0005513)3.64153860
39cardiac cell development (GO:0055006)3.61020563
40response to caffeine (GO:0031000)3.57399262
41regulation of striated muscle contraction (GO:0006942)3.57259675
42regulation of calcium ion transmembrane transport (GO:1903169)3.53501713
43regulation of calcium ion transmembrane transporter activity (GO:1901019)3.53501713
44carnitine shuttle (GO:0006853)3.53122134
45regulation of ATPase activity (GO:0043462)3.52528581
46regulation of ATP catabolic process (GO:1903289)3.52528581
47actin filament-based movement (GO:0030048)3.49540523
48cardiac ventricle formation (GO:0003211)3.48905707
49adrenergic receptor signaling pathway (GO:0071875)3.47100046
50regulation of sarcomere organization (GO:0060297)3.44967858
51regulation of synapse structural plasticity (GO:0051823)3.44607381
52adult heart development (GO:0007512)3.41725765
53relaxation of cardiac muscle (GO:0055119)3.38010701
54skeletal muscle contraction (GO:0003009)3.35320760
55cardiac conduction (GO:0061337)3.29233546
56regulation of cardioblast differentiation (GO:0051890)3.28848486
57negative regulation of cytosolic calcium ion concentration (GO:0051481)3.27413293
58positive regulation of heart rate (GO:0010460)3.27022837
59muscle hypertrophy (GO:0014896)3.25188205
60* regulation of muscle contraction (GO:0006937)3.24835997
61striated muscle cell development (GO:0055002)3.22469700
62* regulation of muscle system process (GO:0090257)3.21538230
63cardiac muscle cell action potential (GO:0086001)3.19686487
64muscle fiber development (GO:0048747)3.19513955
65regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.18356873
66tricarboxylic acid cycle (GO:0006099)3.17737172
67positive regulation of cation channel activity (GO:2001259)3.16899135
68cardiac muscle cell action potential involved in contraction (GO:0086002)3.13624382
69heart contraction (GO:0060047)3.13322480
70heart process (GO:0003015)3.13322480
71negative regulation of protein localization to cell surface (GO:2000009)3.12222855
72negative regulation of myotube differentiation (GO:0010832)3.11306147
73regulation of the force of heart contraction (GO:0002026)3.11124916
74muscle contraction (GO:0006936)3.09422846
75regulation of cardiac muscle contraction (GO:0055117)3.09277471
76negative regulation of potassium ion transport (GO:0043267)3.07592640
77regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.07496064
78potassium ion import (GO:0010107)3.06560615
79cardiac muscle tissue morphogenesis (GO:0055008)3.06553291
80creatine metabolic process (GO:0006600)3.05872560
81regulation of short-term neuronal synaptic plasticity (GO:0048172)3.04143885
82regulation of cardiac muscle cell contraction (GO:0086004)3.03344322
83response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.02565120
84positive regulation of potassium ion transmembrane transport (GO:1901381)3.02499258
85regulation of heart rate by cardiac conduction (GO:0086091)3.01691614
86cardiac muscle adaptation (GO:0014887)3.00382656
87cardiac muscle hypertrophy in response to stress (GO:0014898)3.00382656
88muscle hypertrophy in response to stress (GO:0003299)3.00382656
89positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.99133350
90regulation of acyl-CoA biosynthetic process (GO:0050812)2.98825159
91positive regulation of sodium ion transport (GO:0010765)2.98788960
92fatty acid transmembrane transport (GO:1902001)2.93786304
93cardiac muscle tissue development (GO:0048738)2.93131417
94carnitine transmembrane transport (GO:1902603)2.90883492
95membrane depolarization during action potential (GO:0086010)2.90878418
96muscle system process (GO:0003012)2.89773691
97vocalization behavior (GO:0071625)2.89687046
98muscle tissue morphogenesis (GO:0060415)2.89459375
99locomotory exploration behavior (GO:0035641)2.89445982
100regulation of cation channel activity (GO:2001257)2.88468476
101heart trabecula formation (GO:0060347)2.88391805
102regulation of heart rate (GO:0002027)2.86775867
103cellular response to catecholamine stimulus (GO:0071870)2.86751255
104cellular response to monoamine stimulus (GO:0071868)2.86751255
105activation of protein kinase A activity (GO:0034199)2.83663632
106regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.82792486
107positive regulation of heart contraction (GO:0045823)2.82142546
108ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.81072489
109regulation of potassium ion transmembrane transporter activity (GO:1901016)2.78920452
110regulation of heart contraction (GO:0008016)2.78686518
111relaxation of muscle (GO:0090075)2.78626164
112synaptic vesicle maturation (GO:0016188)2.77833753
113response to inactivity (GO:0014854)2.76641659
114regulation of potassium ion transmembrane transport (GO:1901379)2.74781595
115striated muscle adaptation (GO:0014888)2.74243297
116membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.72093631
117sodium ion export (GO:0071436)2.68203670
118regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.67111755
119skeletal muscle adaptation (GO:0043501)2.66831674
120bundle of His cell to Purkinje myocyte communication (GO:0086069)2.66536131
121positive regulation of ion transmembrane transporter activity (GO:0032414)2.66532257
122regulation of cofactor metabolic process (GO:0051193)2.65115116
123regulation of coenzyme metabolic process (GO:0051196)2.65115116
124neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.64822338
125positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.61086546
126positive regulation of potassium ion transport (GO:0043268)2.59033051

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.58173369
2DROSHA_22980978_ChIP-Seq_HELA_Human2.54258252
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.44640417
4EP300_21415370_ChIP-Seq_HL-1_Mouse2.41808339
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.36273490
6GBX2_23144817_ChIP-Seq_PC3_Human2.34430518
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.23464269
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.23464269
9JARID2_20064375_ChIP-Seq_MESCs_Mouse2.15193578
10SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.06012177
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.05982307
12CDX2_19796622_ChIP-Seq_MESCs_Mouse1.97976591
13EZH2_27304074_Chip-Seq_ESCs_Mouse1.94070338
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.93589614
15JARID2_20075857_ChIP-Seq_MESCs_Mouse1.92417862
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.90308736
17EZH2_27294783_Chip-Seq_ESCs_Mouse1.85939917
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.84204681
19ESR1_20079471_ChIP-ChIP_T-47D_Human1.79221819
20RARB_27405468_Chip-Seq_BRAIN_Mouse1.78675294
21RNF2_27304074_Chip-Seq_ESCs_Mouse1.74197382
22SUZ12_27294783_Chip-Seq_ESCs_Mouse1.72371209
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.68599248
24* TBX20_22328084_ChIP-Seq_HEART_Mouse1.60304642
25* TBX20_22080862_ChIP-Seq_HEART_Mouse1.60304642
26BP1_19119308_ChIP-ChIP_Hs578T_Human1.60196087
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.53362650
28AR_21572438_ChIP-Seq_LNCaP_Human1.52593145
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.50828264
30SMAD_19615063_ChIP-ChIP_OVARY_Human1.48418195
31* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.47204194
32TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.45208684
33ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.42125049
34REST_21632747_ChIP-Seq_MESCs_Mouse1.40196168
35EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.36972154
36SMAD4_21799915_ChIP-Seq_A2780_Human1.33463052
37MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.30300138
38* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.30051806
39* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.28272345
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28207001
41FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.28201653
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.26914039
43AHR_22903824_ChIP-Seq_MCF-7_Human1.26572176
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.25928051
45THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25611984
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.25200347
47REST_18959480_ChIP-ChIP_MESCs_Mouse1.19917114
48ARNT_22903824_ChIP-Seq_MCF-7_Human1.19805597
49KDM2B_26808549_Chip-Seq_K562_Human1.18856230
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17774567
51WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.17677267
52AR_19668381_ChIP-Seq_PC3_Human1.17648892
53GATA1_22025678_ChIP-Seq_K562_Human1.17479537
54STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17367222
55ZNF274_21170338_ChIP-Seq_K562_Hela1.16845207
56TP53_16413492_ChIP-PET_HCT116_Human1.16219767
57SOX9_24532713_ChIP-Seq_HFSC_Mouse1.15810604
58NFIB_24661679_ChIP-Seq_LUNG_Mouse1.14927044
59ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14436882
60ESR2_21235772_ChIP-Seq_MCF-7_Human1.13103851
61SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12954484
62SMAD3_21741376_ChIP-Seq_HESCs_Human1.12583154
63CTNNB1_20460455_ChIP-Seq_HCT116_Human1.12322547
64ZFP57_27257070_Chip-Seq_ESCs_Mouse1.10742526
65* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.10452060
66* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.10452060
67TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10368913
68TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08769355
69RING1B_27294783_Chip-Seq_ESCs_Mouse1.08662908
70TAF15_26573619_Chip-Seq_HEK293_Human1.08392052
71SMAD4_21741376_ChIP-Seq_HESCs_Human1.07640749
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07279463
73GATA2_21666600_ChIP-Seq_HMVEC_Human1.06968982
74GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05792151
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05210744
76PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.04581252
77KDM2B_26808549_Chip-Seq_SUP-B15_Human1.04371969
78EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04111717
79PIAS1_25552417_ChIP-Seq_VCAP_Human1.02783732
80CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.02596908
81SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02462735
82PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.02369559
83FOXA2_19822575_ChIP-Seq_HepG2_Human1.01252577
84PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.00765507
85GATA4_21415370_ChIP-Seq_HL-1_Mouse0.99626103
86OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99606678
87STAT6_21828071_ChIP-Seq_BEAS2B_Human0.99130661
88PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.98613976
89CJUN_26792858_Chip-Seq_BT549_Human0.98561065
90STAT3_23295773_ChIP-Seq_U87_Human0.98415063
91ISL1_27105846_Chip-Seq_CPCs_Mouse0.97568172
92* MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.97559812
93ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.97219058
94POU3F2_20337985_ChIP-ChIP_501MEL_Human0.96453415
95LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96420245
96YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96272247
97DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96094825
98CTCF_27219007_Chip-Seq_Bcells_Human0.94185090
99CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94129029
100CTBP1_25329375_ChIP-Seq_LNCAP_Human0.93808692
101GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93342415
102* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93116550
103TRIM28_21343339_ChIP-Seq_HEK293_Human0.93022207
104* SMAD3_21741376_ChIP-Seq_EPCs_Human0.92905088
105AR_25329375_ChIP-Seq_VCAP_Human0.92435438
106ZFP281_18757296_ChIP-ChIP_E14_Mouse0.92429109
107* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92285283
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92046958
109POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91703276
110TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91703276
111RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.91651095
112NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91638176
113CTBP2_25329375_ChIP-Seq_LNCAP_Human0.90791005
114* TCF4_23295773_ChIP-Seq_U87_Human0.90705490
115BCAT_22108803_ChIP-Seq_LS180_Human0.90287121
116DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89823248
117* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.89772846
118VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88931767
119RARG_19884340_ChIP-ChIP_MEFs_Mouse0.88549431
120ERG_21242973_ChIP-ChIP_JURKAT_Human0.88273632
121WT1_19549856_ChIP-ChIP_CCG9911_Human0.87654044
122TOP2B_26459242_ChIP-Seq_MCF-7_Human0.87571173
123GATA1_19941827_ChIP-Seq_MEL86_Mouse0.87424636
124CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.86714637
125TCF4_18268006_ChIP-ChIP_LS174T_Human0.86662198
126CBX2_27304074_Chip-Seq_ESCs_Mouse0.86471054
127CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.86235963
128GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86024475
129MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.85598051
130AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84980098
131RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.84936651
132IKZF1_21737484_ChIP-ChIP_HCT116_Human0.84671074

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis5.33767313
2MP0000751_myopathy5.09965881
3MP0003646_muscle_fatigue4.55276112
4MP0004084_abnormal_cardiac_muscle4.02470941
5MP0004215_abnormal_myocardial_fiber3.78850026
6MP0004036_abnormal_muscle_relaxation3.59523051
7MP0000749_muscle_degeneration3.51070123
8MP0004145_abnormal_muscle_electrophysio3.24837165
9MP0004859_abnormal_synaptic_plasticity3.16626215
10MP0005330_cardiomyopathy2.90718293
11MP0004130_abnormal_muscle_cell2.69947557
12MP0004087_abnormal_muscle_fiber2.69736223
13MP0005620_abnormal_muscle_contractility2.66413133
14MP0002972_abnormal_cardiac_muscle2.42092443
15MP0003137_abnormal_impulse_conducting2.39053399
16MP0002106_abnormal_muscle_physiology2.37198383
17MP0004484_altered_response_of2.23122708
18MP0008775_abnormal_heart_ventricle2.16846003
19MP0000750_abnormal_muscle_regeneration2.15646742
20MP0000747_muscle_weakness2.12619097
21MP0002269_muscular_atrophy2.05164882
22MP0005369_muscle_phenotype1.99742130
23MP0000759_abnormal_skeletal_muscle1.99037957
24MP0004085_abnormal_heartbeat1.92658038
25MP0004510_myositis1.86972495
26MP0010630_abnormal_cardiac_muscle1.83264848
27MP0001544_abnormal_cardiovascular_syste1.82640046
28MP0005385_cardiovascular_system_phenoty1.82640046
29MP0004233_abnormal_muscle_weight1.82288104
30MP0009780_abnormal_chondrocyte_physiolo1.79364004
31MP0003635_abnormal_synaptic_transmissio1.75822252
32MP0004270_analgesia1.72094229
33MP0006138_congestive_heart_failure1.69591289
34MP0000013_abnormal_adipose_tissue1.44951381
35MP0009745_abnormal_behavioral_response1.34015534
36MP0003828_pulmonary_edema1.33190917
37MP0002063_abnormal_learning/memory/cond1.31560594
38MP0002822_catalepsy1.29543250
39MP0002909_abnormal_adrenal_gland1.28110518
40MP0009046_muscle_twitch1.27009390
41MP0003880_abnormal_central_pattern1.25374490
42MP0008961_abnormal_basal_metabolism1.25262607
43MP0001661_extended_life_span1.20157268
44MP0005666_abnormal_adipose_tissue1.18735629
45MP0002108_abnormal_muscle_morphology1.18585190
46MP0002127_abnormal_cardiovascular_syste1.18486034
47MP0008569_lethality_at_weaning1.15419965
48MP0002064_seizures1.14718663
49MP0002332_abnormal_exercise_endurance1.13772055
50MP0003045_fibrosis1.12240443
51MP0005670_abnormal_white_adipose1.06544007
52MP0004858_abnormal_nervous_system1.04783403
53MP0002234_abnormal_pharynx_morphology1.03878461
54MP0003221_abnormal_cardiomyocyte_apopto1.03616580
55MP0005623_abnormal_meninges_morphology1.01836741
56MP0001486_abnormal_startle_reflex1.00753511
57MP0005375_adipose_tissue_phenotype1.00723243
58MP0000462_abnormal_digestive_system0.99561602
59MP0002572_abnormal_emotion/affect_behav0.98070041
60MP0003950_abnormal_plasma_membrane0.97458022
61MP0002735_abnormal_chemical_nociception0.96706003
62MP0002734_abnormal_mechanical_nocicepti0.96280754
63MP0004185_abnormal_adipocyte_glucose0.95273304
64MP0002272_abnormal_nervous_system0.94249187
65MP0001968_abnormal_touch/_nociception0.93921591
66MP0004924_abnormal_behavior0.93536896
67MP0005386_behavior/neurological_phenoty0.93536896
68MP0008004_abnormal_stomach_pH0.93387283
69MP0001440_abnormal_grooming_behavior0.90783935
70MP0000003_abnormal_adipose_tissue0.90383484
71MP0005451_abnormal_body_composition0.89802044
72MP0005503_abnormal_tendon_morphology0.86535798
73MP0003279_aneurysm0.86487010
74MP0000230_abnormal_systemic_arterial0.83009073
75MP0000767_abnormal_smooth_muscle0.83004731
76MP0002128_abnormal_blood_circulation0.80416826
77MP0002067_abnormal_sensory_capabilities0.79339820
78MP0000266_abnormal_heart_morphology0.79304858
79MP0000733_abnormal_muscle_development0.76091509
80MP0001501_abnormal_sleep_pattern0.72463359
81MP0005423_abnormal_somatic_nervous0.72163613
82MP0005165_increased_susceptibility_to0.69321672
83MP0001299_abnormal_eye_distance/0.68867603
84MP0002168_other_aberrant_phenotype0.68338097
85MP0005187_abnormal_penis_morphology0.66031269
86MP0004811_abnormal_neuron_physiology0.65905997
87MP0001970_abnormal_pain_threshold0.65258478
88MP0000569_abnormal_digit_pigmentation0.64718772
89MP0002184_abnormal_innervation0.64672152
90MP0003633_abnormal_nervous_system0.63090160
91MP0005266_abnormal_metabolism0.61984948
92MP0008438_abnormal_cutaneous_collagen0.60926770
93MP0002736_abnormal_nociception_after0.60557300
94MP0010386_abnormal_urinary_bladder0.60378149
95MP0005275_abnormal_skin_tensile0.60338187
96MP0001958_emphysema0.60045268
97MP0005409_darkened_coat_color0.59788520
98MP0001879_abnormal_lymphatic_vessel0.59436868
99MP0000343_altered_response_to0.59386339
100MP0001984_abnormal_olfaction0.59202297
101MP0005535_abnormal_body_temperature0.58992904
102MP0002066_abnormal_motor_capabilities/c0.58453399
103MP0002557_abnormal_social/conspecific_i0.58045448
104MP0000778_abnormal_nervous_system0.56620083
105MP0006036_abnormal_mitochondrial_physio0.56254634
106MP0003329_amyloid_beta_deposits0.55991445
107MP0009384_cardiac_valve_regurgitation0.55442239
108MP0002971_abnormal_brown_adipose0.55144079
109MP0004043_abnormal_pH_regulation0.55141274
110MP0004147_increased_porphyrin_level0.53684853
111MP0005167_abnormal_blood-brain_barrier0.53471452
112MP0010368_abnormal_lymphatic_system0.52538242
113MP0003566_abnormal_cell_adhesion0.51893322
114MP0004272_abnormal_basement_membrane0.51419518
115MP0002009_preneoplasia0.51008452
116MP0003879_abnormal_hair_cell0.50846600
117MP0005595_abnormal_vascular_smooth0.46904181
118MP0001664_abnormal_digestion0.46864281
119MP0002925_abnormal_cardiovascular_devel0.44520045
120MP0009115_abnormal_fat_cell0.43208524
121MP0003567_abnormal_fetal_cardiomyocyte0.42851762
122MP0001784_abnormal_fluid_regulation0.39969173
123MP0002638_abnormal_pupillary_reflex0.39614098
124MP0003705_abnormal_hypodermis_morpholog0.37056761
125MP0001614_abnormal_blood_vessel0.36564835
126MP0002133_abnormal_respiratory_system0.34757224
127MP0005388_respiratory_system_phenotype0.34757224
128MP0003948_abnormal_gas_homeostasis0.31228254
129MP0003690_abnormal_glial_cell0.29946615
130MP0008874_decreased_physiological_sensi0.29586849
131MP0003091_abnormal_cell_migration0.28460167

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.78895071
2Exercise-induced myalgia (HP:0003738)6.11113832
3Calf muscle hypertrophy (HP:0008981)5.71946084
4Muscle hypertrophy of the lower extremities (HP:0008968)5.48860353
5Exercise-induced muscle cramps (HP:0003710)5.14389996
6Muscle fiber splitting (HP:0003555)5.06477365
7Hyporeflexia of lower limbs (HP:0002600)4.90543366
8Abnormality of the calf musculature (HP:0001430)4.90087714
9Atrial fibrillation (HP:0005110)4.74277175
10Ventricular tachycardia (HP:0004756)4.71605175
11Type 1 muscle fiber predominance (HP:0003803)4.67940322
12Primary atrial arrhythmia (HP:0001692)4.47731423
13Muscle fiber inclusion bodies (HP:0100299)4.46641959
14Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.30727587
15Supraventricular tachycardia (HP:0004755)4.25330179
16Bundle branch block (HP:0011710)4.23846574
17Supraventricular arrhythmia (HP:0005115)4.18244762
18Subaortic stenosis (HP:0001682)4.11621695
19Abnormality of the left ventricular outflow tract (HP:0011103)4.11621695
20Syncope (HP:0001279)4.08444340
21Prolonged QT interval (HP:0001657)4.07888928
22Difficulty running (HP:0009046)4.05248087
23EMG: myopathic abnormalities (HP:0003458)4.00251750
24Increased connective tissue (HP:0009025)3.76291727
25Nemaline bodies (HP:0003798)3.74105116
26Myoglobinuria (HP:0002913)3.73239668
27Right ventricular cardiomyopathy (HP:0011663)3.71806210
28Lipoatrophy (HP:0100578)3.68906510
29Myotonia (HP:0002486)3.61486951
30Ventricular fibrillation (HP:0001663)3.45226233
31Ventricular arrhythmia (HP:0004308)3.40334049
32Increased variability in muscle fiber diameter (HP:0003557)3.29835814
33Asymmetric septal hypertrophy (HP:0001670)3.21733213
34Heart block (HP:0012722)3.19065485
35Abnormal EKG (HP:0003115)3.10685424
36Dilated cardiomyopathy (HP:0001644)3.10091369
37Abnormality of skeletal muscle fiber size (HP:0012084)3.08953634
38Abnormal atrioventricular conduction (HP:0005150)2.99330159
39Difficulty climbing stairs (HP:0003551)2.82230458
40Atrioventricular block (HP:0001678)2.77840489
41Distal arthrogryposis (HP:0005684)2.77374322
42Palpitations (HP:0001962)2.73430841
43Facial diplegia (HP:0001349)2.70712055
44Mildly elevated creatine phosphokinase (HP:0008180)2.62915772
45Neck muscle weakness (HP:0000467)2.62802260
46Round ear (HP:0100830)2.62011547
47Focal motor seizures (HP:0011153)2.60996465
48Muscle stiffness (HP:0003552)2.57321618
49Myopathic facies (HP:0002058)2.51189989
50Hypoplastic ischia (HP:0003175)2.51100309
51Lower limb amyotrophy (HP:0007210)2.49123899
52Scapular winging (HP:0003691)2.42994532
53Distal lower limb amyotrophy (HP:0008944)2.42637739
54Left ventricular hypertrophy (HP:0001712)2.40279598
55Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.34830361
56Neoplasm of the heart (HP:0100544)2.34819101
57Rhabdomyolysis (HP:0003201)2.34310475
58Dysmetric saccades (HP:0000641)2.33345369
59Broad metatarsal (HP:0001783)2.30118748
60Aortic dissection (HP:0002647)2.27666557
61Rimmed vacuoles (HP:0003805)2.27475125
62Steppage gait (HP:0003376)2.26316212
63Aneurysm (HP:0002617)2.26244654
64EMG: neuropathic changes (HP:0003445)2.23952059
65Frequent falls (HP:0002359)2.22539101
66Limb-girdle muscle atrophy (HP:0003797)2.21449649
67Distal lower limb muscle weakness (HP:0009053)2.20878076
68Proximal amyotrophy (HP:0007126)2.20158490
69Abnormality of the ischium (HP:0003174)2.17747273
70Gowers sign (HP:0003391)2.10305024
71Myokymia (HP:0002411)2.09254429
72Areflexia of lower limbs (HP:0002522)2.04687090
73Focal seizures (HP:0007359)2.02711779
74Muscular dystrophy (HP:0003560)1.99009094
75Testicular atrophy (HP:0000029)1.94624843
76Hip contracture (HP:0003273)1.94053274
77Central scotoma (HP:0000603)1.93590607
78Abnormality of the foot musculature (HP:0001436)1.93352896
79Ragged-red muscle fibers (HP:0003200)1.92700115
80Ulnar deviation of the wrist (HP:0003049)1.88896011
81Visual hallucinations (HP:0002367)1.88532493
82Foot dorsiflexor weakness (HP:0009027)1.86818606
83Broad-based gait (HP:0002136)1.85652223
84Centrally nucleated skeletal muscle fibers (HP:0003687)1.84496849
85Bulbar palsy (HP:0001283)1.84165356
86Papilledema (HP:0001085)1.79344034
87Limb-girdle muscle weakness (HP:0003325)1.77800108
88Spinal rigidity (HP:0003306)1.76018020
89Pheochromocytoma (HP:0002666)1.74449966
90Toxemia of pregnancy (HP:0100603)1.74216081
91Aortic aneurysm (HP:0004942)1.74048727
92Generalized muscle weakness (HP:0003324)1.71540715
93Hyperkalemia (HP:0002153)1.70439088
94Sudden cardiac death (HP:0001645)1.69665528
95Rapidly progressive (HP:0003678)1.69283997
96Poor eye contact (HP:0000817)1.68279870
97Bicuspid aortic valve (HP:0001647)1.66841524
98Bradycardia (HP:0001662)1.66047559
99Abnormality of the shoulder girdle musculature (HP:0001435)1.65671024
100Impaired social interactions (HP:0000735)1.63720548
101Abnormal social behavior (HP:0012433)1.63720548
102Absent phalangeal crease (HP:0006109)1.63688551
103Febrile seizures (HP:0002373)1.63384458
104Palmoplantar keratoderma (HP:0000982)1.62978410
105Cerebral aneurysm (HP:0004944)1.61060777
106Hamartoma of the eye (HP:0010568)1.60419317
107Congestive heart failure (HP:0001635)1.59361898
108Waddling gait (HP:0002515)1.58087270
109Ankle clonus (HP:0011448)1.56648732
110Childhood onset (HP:0011463)1.56449469
111Limited hip movement (HP:0008800)1.55244590
112Skin pits (HP:0100276)1.47651360
113Pulmonary artery stenosis (HP:0004415)1.46891954
114Abnormality of the tricuspid valve (HP:0001702)1.43343339
115Periauricular skin pits (HP:0100277)1.43278291
116Preauricular pit (HP:0004467)1.43278291
117Hypoplastic left heart (HP:0004383)1.42198179
118Skin nodule (HP:0200036)1.39879611
119Abnormality of the endocardium (HP:0004306)1.37278074
120Calcaneovalgus deformity (HP:0001848)1.36866258
121Hypoplastic heart (HP:0001961)1.36447851
122Resting tremor (HP:0002322)1.36286455

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN4.79357917
2OBSCN4.52685553
3PHKG23.68957291
4PHKG13.68957291
5MYLK3.03955791
6LMTK22.80528949
7TRIB32.06620838
8PDK32.02444462
9PDK42.02444462
10NTRK31.88208898
11RIPK11.86347789
12EPHA41.85317747
13MARK11.75719219
14AKT31.66154443
15PIK3CA1.65501254
16PINK11.62319211
17PRKD31.50426565
18MAP3K91.49704617
19MAP3K41.41239095
20NEK91.40681371
21MAP3K71.40555118
22PKN21.37603643
23EPHA31.36072129
24PAK61.32158749
25MUSK1.30543523
26CDC42BPA1.29923649
27STK38L1.29252463
28STK381.27455919
29DAPK21.26760402
30PDK21.23556916
31EEF2K1.22159968
32MAPKAPK31.20697092
33PDGFRA1.20045571
34PAK31.18940816
35NEK11.17867176
36NTRK21.10442337
37MAP3K61.05047904
38FRK1.04692183
39PIK3CG1.04419592
40MAP2K41.02031262
41CAMK1G1.01134017
42TIE11.01049525
43INSRR1.00790415
44* DMPK0.98739859
45MINK10.98339664
46KSR20.97685224
47CAMK2D0.96770767
48MAPK120.96742546
49NLK0.96272035
50CAMK10.95787025
51CAMKK10.92343294
52PRKD10.91739934
53MAPK70.90270837
54TAOK10.87720352
55STK240.87549300
56SGK30.87438992
57PRKCH0.86511199
58CAMK2A0.80089775
59PTK2B0.79973610
60PRKAA10.79915962
61CAMK40.77317139
62LATS20.75665479
63WNK10.75222008
64EPHB10.74458691
65MAPK40.74195727
66RET0.73323848
67KSR10.72574003
68SGK20.72449576
69CDK50.71716445
70* ROCK10.71188854
71CAMK1D0.68584419
72ICK0.68371252
73MARK20.67577234
74NTRK10.67285883
75MAP2K70.66982515
76PKN10.65624882
77SGK10.64896304
78DDR20.63684553
79UHMK10.60532505
80NME10.60432232
81GRK70.59860281
82PRKAA20.59685410
83PDPK10.59452598
84ZAK0.59061124
85CAMK2G0.58873974
86TGFBR20.58744366
87PAK20.58110944
88TYRO30.57773892
89CAMK2B0.57713125
90ILK0.57598142
91MAP2K30.57587730
92STK110.57350945
93DAPK30.57241720
94SIK20.56658149
95SGK2230.56019455
96SGK4940.56019455
97RPS6KL10.55943503
98RPS6KC10.55943503
99PDK10.55857363
100PRPF4B0.55386792
101FER0.55051888
102MAPK130.54660438
103MAP2K10.53713428
104RPS6KA20.52887732
105MTOR0.52855827
106FGFR30.52684387
107PRKCE0.52171586
108RPS6KA60.51558636
109MAP3K50.51207901
110LIMK10.50494824
111PDGFRB0.47953885
112ROCK20.47670450
113PRKACG0.46134328
114PRKACB0.45982730
115EPHB20.45843691
116RPS6KA30.44280610
117MAPK100.41557010
118PLK20.40758976
119CAMKK20.40228441
120PRKG10.38964436
121LATS10.38852382
122GRK50.37206615
123FGFR20.36957499
124TRPM70.36686053
125PRKACA0.35344584
126SIK10.34464296
127RPS6KA10.29369711
128JAK20.29125040
129JAK10.27387057

Predicted pathways (KEGG)

RankGene SetZ-score
1Dilated cardiomyopathy_Homo sapiens_hsa054143.10760184
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.88802176
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.76624533
4Cardiac muscle contraction_Homo sapiens_hsa042602.68374250
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.32160556
6Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.21250578
7Circadian entrainment_Homo sapiens_hsa047131.97635721
8Olfactory transduction_Homo sapiens_hsa047401.83647643
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.77653996
10* Oxytocin signaling pathway_Homo sapiens_hsa049211.68062939
11Calcium signaling pathway_Homo sapiens_hsa040201.66585560
12Gastric acid secretion_Homo sapiens_hsa049711.64788591
13Insulin secretion_Homo sapiens_hsa049111.63909451
14cGMP-PKG signaling pathway_Homo sapiens_hsa040221.60595121
15Renin secretion_Homo sapiens_hsa049241.57382563
16Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.56703841
17Nicotine addiction_Homo sapiens_hsa050331.54829233
18Morphine addiction_Homo sapiens_hsa050321.54207448
19Long-term potentiation_Homo sapiens_hsa047201.51717822
20GABAergic synapse_Homo sapiens_hsa047271.50269256
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.48735285
22Salivary secretion_Homo sapiens_hsa049701.46539001
23Glutamatergic synapse_Homo sapiens_hsa047241.45318897
24Type II diabetes mellitus_Homo sapiens_hsa049301.42127948
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.40048041
26Cholinergic synapse_Homo sapiens_hsa047251.38010632
27* Vascular smooth muscle contraction_Homo sapiens_hsa042701.32241379
28Amphetamine addiction_Homo sapiens_hsa050311.30235371
29Synaptic vesicle cycle_Homo sapiens_hsa047211.24339192
30cAMP signaling pathway_Homo sapiens_hsa040241.22866945
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.22697001
32Dopaminergic synapse_Homo sapiens_hsa047281.21778488
33GnRH signaling pathway_Homo sapiens_hsa049121.21021973
34Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.15014072
35Glucagon signaling pathway_Homo sapiens_hsa049221.14181169
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.13277296
37Propanoate metabolism_Homo sapiens_hsa006401.10615940
38Taste transduction_Homo sapiens_hsa047421.08576678
39Insulin signaling pathway_Homo sapiens_hsa049101.07770773
40Gap junction_Homo sapiens_hsa045400.98105334
41Insulin resistance_Homo sapiens_hsa049310.96658660
42* Focal adhesion_Homo sapiens_hsa045100.96174968
43Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.95851941
44Phenylalanine metabolism_Homo sapiens_hsa003600.95143674
45Viral myocarditis_Homo sapiens_hsa054160.94964673
46Dorso-ventral axis formation_Homo sapiens_hsa043200.92241714
47Circadian rhythm_Homo sapiens_hsa047100.91514235
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90171093
49Thyroid hormone signaling pathway_Homo sapiens_hsa049190.89706998
50Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.89428862
51Fatty acid degradation_Homo sapiens_hsa000710.87629916
52Adipocytokine signaling pathway_Homo sapiens_hsa049200.86780366
53Estrogen signaling pathway_Homo sapiens_hsa049150.86100158
54Long-term depression_Homo sapiens_hsa047300.84176845
55Serotonergic synapse_Homo sapiens_hsa047260.83707921
56Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.81453712
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.80862312
58Fatty acid metabolism_Homo sapiens_hsa012120.80226454
59Glioma_Homo sapiens_hsa052140.78790666
60AMPK signaling pathway_Homo sapiens_hsa041520.76975746
61Axon guidance_Homo sapiens_hsa043600.76129282
62Alzheimers disease_Homo sapiens_hsa050100.76111368
63Cocaine addiction_Homo sapiens_hsa050300.75613523
64Tight junction_Homo sapiens_hsa045300.75298443
65Melanogenesis_Homo sapiens_hsa049160.73804034
66Bile secretion_Homo sapiens_hsa049760.72292730
67Fatty acid biosynthesis_Homo sapiens_hsa000610.70090516
68ECM-receptor interaction_Homo sapiens_hsa045120.69623675
69Pancreatic secretion_Homo sapiens_hsa049720.68440575
70Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.68370810
71mTOR signaling pathway_Homo sapiens_hsa041500.67428452
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.67063168
73MAPK signaling pathway_Homo sapiens_hsa040100.66418328
74Arginine biosynthesis_Homo sapiens_hsa002200.66417095
75ErbB signaling pathway_Homo sapiens_hsa040120.65258400
76Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.64608703
77Arginine and proline metabolism_Homo sapiens_hsa003300.63818361
78Carbon metabolism_Homo sapiens_hsa012000.62111946
79FoxO signaling pathway_Homo sapiens_hsa040680.60656489
80Parkinsons disease_Homo sapiens_hsa050120.59775296
81Leukocyte transendothelial migration_Homo sapiens_hsa046700.59727934
82Histidine metabolism_Homo sapiens_hsa003400.59715340
83VEGF signaling pathway_Homo sapiens_hsa043700.59638462
84Amoebiasis_Homo sapiens_hsa051460.58727944
85Ovarian steroidogenesis_Homo sapiens_hsa049130.56814579
86* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53063767
87Platelet activation_Homo sapiens_hsa046110.52532366
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52428887
89Renal cell carcinoma_Homo sapiens_hsa052110.51836592
90Rap1 signaling pathway_Homo sapiens_hsa040150.51588166
91HIF-1 signaling pathway_Homo sapiens_hsa040660.50898636
92Protein digestion and absorption_Homo sapiens_hsa049740.50757181
93Choline metabolism in cancer_Homo sapiens_hsa052310.50570298
94ABC transporters_Homo sapiens_hsa020100.50528149
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.50255625
96Endometrial cancer_Homo sapiens_hsa052130.49334338
97Adherens junction_Homo sapiens_hsa045200.48857374
98Inositol phosphate metabolism_Homo sapiens_hsa005620.48309217
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47936337
100Central carbon metabolism in cancer_Homo sapiens_hsa052300.47125889
101Thyroid hormone synthesis_Homo sapiens_hsa049180.44975701
102beta-Alanine metabolism_Homo sapiens_hsa004100.44344420
103Oxidative phosphorylation_Homo sapiens_hsa001900.43965112
104Lysine degradation_Homo sapiens_hsa003100.43428370
105* Proteoglycans in cancer_Homo sapiens_hsa052050.42905014
106Ras signaling pathway_Homo sapiens_hsa040140.41836947
107AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.40961465
108Butanoate metabolism_Homo sapiens_hsa006500.40204673
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39934154
110Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.39243810
111Glycerophospholipid metabolism_Homo sapiens_hsa005640.38942160
112Starch and sucrose metabolism_Homo sapiens_hsa005000.37468169
113PPAR signaling pathway_Homo sapiens_hsa033200.36287798
114Tryptophan metabolism_Homo sapiens_hsa003800.35761611
115Mineral absorption_Homo sapiens_hsa049780.34582583
116Pyruvate metabolism_Homo sapiens_hsa006200.33950821

Most similar genes based on co-expression Upload to Enrichr

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