JPH2

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: Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.35213746
2actin-myosin filament sliding (GO:0033275)8.70113158
3muscle filament sliding (GO:0030049)8.70113158
4cardiac myofibril assembly (GO:0055003)7.95004028
5myofibril assembly (GO:0030239)7.73703441
6regulation of skeletal muscle contraction (GO:0014819)7.57035987
7negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.51143243
8actin-mediated cell contraction (GO:0070252)7.20479221
9plasma membrane repair (GO:0001778)7.00918255
10negative regulation of potassium ion transmembrane transport (GO:1901380)6.76579502
11regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.40489072
12cardiac muscle contraction (GO:0060048)6.35927370
13cardiac muscle cell development (GO:0055013)6.10140191
14sarcoplasmic reticulum calcium ion transport (GO:0070296)6.06289336
15actomyosin structure organization (GO:0031032)6.02400142
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.85292544
17striated muscle contraction (GO:0006941)5.80585077
18cardiac cell development (GO:0055006)5.72884253
19regulation of actin filament-based movement (GO:1903115)5.70191289
20tricarboxylic acid cycle (GO:0006099)5.69599925
21regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.51084944
22actin filament-based movement (GO:0030048)5.46417824
23carnitine shuttle (GO:0006853)5.42733701
24regulation of relaxation of muscle (GO:1901077)5.40214485
25skeletal muscle contraction (GO:0003009)5.32098405
26adult heart development (GO:0007512)5.30474552
27cardiac muscle tissue morphogenesis (GO:0055008)5.20673773
28ventricular cardiac muscle cell action potential (GO:0086005)5.16074079
29regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.13223040
30skeletal muscle fiber development (GO:0048741)5.11359539
31* positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.09378543
32regulation of cell communication by electrical coupling (GO:0010649)5.06314778
33regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.06209858
34response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.00258146
35cardiac muscle hypertrophy (GO:0003300)4.88796421
36regulation of striated muscle contraction (GO:0006942)4.88541649
37ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.85494216
38myotube cell development (GO:0014904)4.83501265
39regulation of sarcomere organization (GO:0060297)4.81478613
40muscle tissue morphogenesis (GO:0060415)4.81104195
41bundle of His cell to Purkinje myocyte communication (GO:0086069)4.79774665
42heart trabecula formation (GO:0060347)4.77852411
43striated muscle hypertrophy (GO:0014897)4.71921683
44* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.69893900
45fatty acid transmembrane transport (GO:1902001)4.61895048
46regulation of acyl-CoA biosynthetic process (GO:0050812)4.59247842
47heart contraction (GO:0060047)4.44904023
48heart process (GO:0003015)4.44904023
49regulation of membrane repolarization (GO:0060306)4.43621872
50creatine metabolic process (GO:0006600)4.38211383
51skeletal muscle adaptation (GO:0043501)4.33256909
52skeletal muscle tissue development (GO:0007519)4.25130026
53muscle contraction (GO:0006936)4.24097205
54response to inactivity (GO:0014854)4.21617205
55regulation of cofactor metabolic process (GO:0051193)4.18494829
56regulation of coenzyme metabolic process (GO:0051196)4.18494829
57muscle cell fate commitment (GO:0042693)4.16950884
58muscle hypertrophy (GO:0014896)4.15677766
59regulation of the force of heart contraction (GO:0002026)4.09236519
60muscle cell cellular homeostasis (GO:0046716)4.03629514
61carnitine transmembrane transport (GO:1902603)3.99939139
62striated muscle cell development (GO:0055002)3.99616518
63cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.98491429
64cell communication involved in cardiac conduction (GO:0086065)3.98175445
65muscle system process (GO:0003012)3.92525462
66striated muscle adaptation (GO:0014888)3.92466384
67muscle organ development (GO:0007517)3.79715666
68glucan biosynthetic process (GO:0009250)3.77117201
69glycogen biosynthetic process (GO:0005978)3.77117201
70muscle structure development (GO:0061061)3.77058284
71cardiac muscle adaptation (GO:0014887)3.73623805
72cardiac muscle hypertrophy in response to stress (GO:0014898)3.73623805
73muscle hypertrophy in response to stress (GO:0003299)3.73623805
74negative regulation of potassium ion transport (GO:0043267)3.71645243
75regulation of cardiac muscle contraction (GO:0055117)3.69779511
76cardiac muscle cell action potential involved in contraction (GO:0086002)3.68370096
77striated muscle atrophy (GO:0014891)3.67797143
78negative regulation of protein localization to cell surface (GO:2000009)3.64988361
79cardiac muscle cell action potential (GO:0086001)3.64937550
80carnitine transport (GO:0015879)3.63519526
81amino-acid betaine transport (GO:0015838)3.63519526
82regulation of ATP catabolic process (GO:1903289)3.61857255
83regulation of ATPase activity (GO:0043462)3.61857255
84regulation of heart rate (GO:0002027)3.61610055
85NADH metabolic process (GO:0006734)3.61139555
862-oxoglutarate metabolic process (GO:0006103)3.58227240
87regulation of myoblast differentiation (GO:0045661)3.57592021
88regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.56252840
89regulation of cardiac muscle cell contraction (GO:0086004)3.54107200
90muscle fiber development (GO:0048747)3.54062662
91response to muscle activity (GO:0014850)3.51569140
92glycogen catabolic process (GO:0005980)3.50910677
93skeletal muscle tissue regeneration (GO:0043403)3.49438914
94positive regulation of myoblast differentiation (GO:0045663)3.47312209
95negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.45278363
96muscle cell development (GO:0055001)3.44700248
97regulation of muscle contraction (GO:0006937)3.44348182
98cellular polysaccharide catabolic process (GO:0044247)3.43971813
99cell communication by electrical coupling (GO:0010644)3.43478962
100regulation of cardioblast differentiation (GO:0051890)3.41236323
101regulation of sulfur metabolic process (GO:0042762)3.39695055
102regulation of heart contraction (GO:0008016)3.39284300
103regulation of skeletal muscle cell differentiation (GO:2001014)3.37596373
104mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.35671089
105negative regulation of striated muscle cell apoptotic process (GO:0010664)3.33726201
106striated muscle tissue development (GO:0014706)3.32767731
107regulation of sequestering of triglyceride (GO:0010889)3.31262155
108muscle adaptation (GO:0043500)3.30169442
109myoblast fusion (GO:0007520)3.27448563
110glucan catabolic process (GO:0009251)3.26744807
111positive regulation of myotube differentiation (GO:0010831)3.25966579
112relaxation of muscle (GO:0090075)3.25404067
113* regulation of calcium ion transmembrane transporter activity (GO:1901019)3.24712085
114* regulation of calcium ion transmembrane transport (GO:1903169)3.24712085
115relaxation of cardiac muscle (GO:0055119)3.22759777
116muscle atrophy (GO:0014889)3.21761439
117positive regulation of heart contraction (GO:0045823)3.21475386
118regulation of muscle system process (GO:0090257)3.17467666
119cardiac chamber formation (GO:0003207)3.16978530
120trabecula formation (GO:0060343)3.14979649
121mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.13208313
122cardiac conduction (GO:0061337)3.12330062
123regulation of myotube differentiation (GO:0010830)3.10080831
124polysaccharide catabolic process (GO:0000272)3.07111323
125negative regulation of calcium ion transmembrane transport (GO:1903170)3.03411309

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.84830921
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.25843749
3* TBX20_22080862_ChIP-Seq_HEART_Mouse3.78239162
4* TBX20_22328084_ChIP-Seq_HEART_Mouse3.78239162
5ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.58388599
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.56228162
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.33274476
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.25266117
9RARG_19884340_ChIP-ChIP_MEFs_Mouse3.25237004
10ZNF263_19887448_ChIP-Seq_K562_Human3.10495757
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.95525188
12RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.71355490
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.17107272
14EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.16521584
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.16073029
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.14678036
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.05847936
18* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.01543692
19TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.00572677
20ESR2_21235772_ChIP-Seq_MCF-7_Human2.00352957
21CLOCK_20551151_ChIP-Seq_293T_Human1.98056673
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.85475668
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.73288516
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.70813104
25EZH2_22144423_ChIP-Seq_EOC_Human1.69399007
26TRIM28_21343339_ChIP-Seq_HEK293_Human1.68247582
27KDM2B_26808549_Chip-Seq_SUP-B15_Human1.62962089
28* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.57199101
29RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.57088581
30ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.56915837
31* NFIB_24661679_ChIP-Seq_LUNG_Mouse1.54958712
32CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.51889407
33PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.45250072
34KDM2B_26808549_Chip-Seq_DND41_Human1.44368816
35NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42906514
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.40769836
37ELK3_25401928_ChIP-Seq_HUVEC_Human1.40048438
38ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.38200363
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36793358
40PPAR_26484153_Chip-Seq_NCI-H1993_Human1.33086778
41CTCF_27219007_Chip-Seq_Bcells_Human1.32931782
42LXR_22292898_ChIP-Seq_THP-1_Human1.32449539
43BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.30785799
44RACK7_27058665_Chip-Seq_MCF-7_Human1.26106030
45NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.24541469
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.23700828
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.23574439
48ATF3_27146783_Chip-Seq_COLON_Human1.23255916
49EZH2_18974828_ChIP-Seq_MESCs_Mouse1.20673151
50RNF2_18974828_ChIP-Seq_MESCs_Mouse1.20673151
51TP63_22573176_ChIP-Seq_HFKS_Human1.19980140
52NRF2_20460467_ChIP-Seq_MEFs_Mouse1.19495966
53NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.19495966
54PPARA_22158963_ChIP-Seq_LIVER_Mouse1.18278550
55* EZH2_27294783_Chip-Seq_ESCs_Mouse1.17882065
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.17333328
57ZFP281_18757296_ChIP-ChIP_E14_Mouse1.16239924
58HIF1A_21447827_ChIP-Seq_MCF-7_Human1.15465488
59KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.14503015
60GATA2_21666600_ChIP-Seq_HMVEC_Human1.13993592
61MTF2_20144788_ChIP-Seq_MESCs_Mouse1.12415164
62SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12211272
63UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.12178559
64RUNX1_27514584_Chip-Seq_MCF-7_Human1.11951742
65SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10627323
66* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.09440611
67LXR_22158963_ChIP-Seq_LIVER_Mouse1.09380876
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.08901032
69CJUN_26792858_Chip-Seq_BT549_Human1.08824092
70BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06923132
71WT1_19549856_ChIP-ChIP_CCG9911_Human1.06804665
72GATA1_19941826_ChIP-Seq_K562_Human1.05481569
73SOX9_24532713_ChIP-Seq_HFSC_Mouse1.04996183
74* DROSHA_22980978_ChIP-Seq_HELA_Human1.04477694
75ISL1_27105846_Chip-Seq_CPCs_Mouse1.04036610
76WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.02690443
77SMAD3_21741376_ChIP-Seq_HESCs_Human1.00686698
78EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.00113604
79EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.99843304
80* SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98949239
81* EZH2_27304074_Chip-Seq_ESCs_Mouse0.98399997
82ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97960370
83KDM2B_26808549_Chip-Seq_K562_Human0.97351400
84FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.96984561
85JARID2_20075857_ChIP-Seq_MESCs_Mouse0.96634265
86SMAD_19615063_ChIP-ChIP_OVARY_Human0.96246895
87P300_27058665_Chip-Seq_ZR-75-30cells_Human0.94889967
88MYC_27129775_Chip-Seq_CORNEA_Mouse0.94760383
89STAT3_1855785_ChIP-Seq_MESCs_Mouse0.94002053
90STAT6_21828071_ChIP-Seq_BEAS2B_Human0.93743883
91SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.92316800
92ERG_21242973_ChIP-ChIP_JURKAT_Human0.92148906
93* TP53_23651856_ChIP-Seq_MEFs_Mouse0.91935958
94* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.91803668
95* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.91232902
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91184094
97CREB1_26743006_Chip-Seq_LNCaP_Human0.90506382
98* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.89775369
99P63_26484246_Chip-Seq_KERATINOCYTES_Human0.89685546
100ZNF274_21170338_ChIP-Seq_K562_Hela0.88410742
101CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87805729
102FOXH1_21741376_ChIP-Seq_ESCs_Human0.87766648
103SPI1_20517297_ChIP-Seq_HL60_Human0.87510045
104SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.87317516
105STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.87267527
106* CTCF_21964334_Chip-Seq_Bcells_Human0.86874295
107* P68_20966046_ChIP-Seq_HELA_Human0.86835555
108RXR_22158963_ChIP-Seq_LIVER_Mouse0.85259913
109PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.84559391
110DNAJC2_21179169_ChIP-ChIP_NT2_Human0.84414591
111NR3C1_23031785_ChIP-Seq_PC12_Mouse0.84082260
112SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.84073683
113FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.83748933
114* RNF2_27304074_Chip-Seq_ESCs_Mouse0.83466238
115OCT4_20526341_ChIP-Seq_ESCs_Human0.83412894
116GATA2_19941826_ChIP-Seq_K562_Human0.82432245
117TCF7_22412390_ChIP-Seq_EML_Mouse0.81477513
118KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.81285260
119* FOXA2_19822575_ChIP-Seq_HepG2_Human0.81215662
120SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.80920293
121CBX2_27304074_Chip-Seq_ESCs_Mouse0.80861510
122SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.80228659
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.80188230
124DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80061126
125GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79759576
126GBX2_23144817_ChIP-Seq_PC3_Human0.79444949
127ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79270632
128RARB_27405468_Chip-Seq_BRAIN_Mouse0.78971999
129SMAD4_21741376_ChIP-Seq_HESCs_Human0.78582337
130MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.78275652
131WT1_25993318_ChIP-Seq_PODOCYTE_Human0.78240236
132SOX2_21211035_ChIP-Seq_LN229_Gbm0.78107855
133BCL6_27268052_Chip-Seq_Bcells_Human0.77979046
134YAP1_20516196_ChIP-Seq_MESCs_Mouse0.77543610
135GATA1_19941827_ChIP-Seq_MEL86_Mouse0.77175494

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.53794648
2MP0003646_muscle_fatigue5.67325899
3MP0000751_myopathy5.57530952
4MP0004084_abnormal_cardiac_muscle5.10670429
5MP0000749_muscle_degeneration4.56981015
6MP0004036_abnormal_muscle_relaxation4.39253512
7MP0004215_abnormal_myocardial_fiber4.09952100
8MP0005330_cardiomyopathy3.60764531
9MP0004145_abnormal_muscle_electrophysio3.54626814
10* MP0004087_abnormal_muscle_fiber3.24832881
11MP0000750_abnormal_muscle_regeneration3.20021833
12MP0002106_abnormal_muscle_physiology3.02537301
13MP0005620_abnormal_muscle_contractility2.91732310
14MP0002972_abnormal_cardiac_muscle2.82789527
15MP0002269_muscular_atrophy2.66494604
16MP0000747_muscle_weakness2.64328988
17MP0004130_abnormal_muscle_cell2.60000126
18MP0003137_abnormal_impulse_conducting2.52334628
19MP0000759_abnormal_skeletal_muscle2.50734343
20MP0005369_muscle_phenotype2.48379681
21MP0008775_abnormal_heart_ventricle2.47986362
22* MP0010630_abnormal_cardiac_muscle2.33294228
23* MP0005385_cardiovascular_system_phenoty2.21972975
24* MP0001544_abnormal_cardiovascular_syste2.21972975
25MP0004484_altered_response_of2.13683772
26MP0006138_congestive_heart_failure2.11407961
27MP0004233_abnormal_muscle_weight1.98444732
28MP0003828_pulmonary_edema1.88522912
29MP0003221_abnormal_cardiomyocyte_apopto1.71287454
30* MP0004085_abnormal_heartbeat1.64682229
31MP0003950_abnormal_plasma_membrane1.52936759
32MP0006036_abnormal_mitochondrial_physio1.52858141
33MP0004510_myositis1.52339943
34MP0002332_abnormal_exercise_endurance1.50723552
35MP0005666_abnormal_adipose_tissue1.46868516
36MP0002127_abnormal_cardiovascular_syste1.39433310
37MP0000733_abnormal_muscle_development1.31428399
38MP0003279_aneurysm1.26431579
39MP0002108_abnormal_muscle_morphology1.25829553
40MP0004185_abnormal_adipocyte_glucose1.20004395
41MP0001661_extended_life_span1.19542346
42MP0003705_abnormal_hypodermis_morpholog1.18111494
43MP0002234_abnormal_pharynx_morphology1.15421331
44MP0008438_abnormal_cutaneous_collagen1.13962711
45MP0005670_abnormal_white_adipose1.13457524
46MP0003567_abnormal_fetal_cardiomyocyte1.10915067
47MP0005375_adipose_tissue_phenotype1.07208068
48MP0000343_altered_response_to1.06539345
49* MP0000266_abnormal_heart_morphology1.05511529
50MP0004270_analgesia1.03639148
51MP0010368_abnormal_lymphatic_system1.03248909
52MP0005623_abnormal_meninges_morphology0.98390824
53MP0003566_abnormal_cell_adhesion0.92928138
54MP0005275_abnormal_skin_tensile0.90393971
55MP0005165_increased_susceptibility_to0.85988346
56MP0006035_abnormal_mitochondrial_morpho0.84448437
57MP0000013_abnormal_adipose_tissue0.83236084
58MP0002128_abnormal_blood_circulation0.78731243
59MP0005266_abnormal_metabolism0.78500845
60MP0010030_abnormal_orbit_morphology0.75931216
61MP0002971_abnormal_brown_adipose0.72975653
62MP0000230_abnormal_systemic_arterial0.71893765
63MP0000767_abnormal_smooth_muscle0.70465501
64MP0000003_abnormal_adipose_tissue0.69099006
65MP0004272_abnormal_basement_membrane0.65742199
66MP0003941_abnormal_skin_development0.63211777
67MP0001879_abnormal_lymphatic_vessel0.62081203
68MP0003806_abnormal_nucleotide_metabolis0.57025352
69MP0004134_abnormal_chest_morphology0.54043566
70MP0002925_abnormal_cardiovascular_devel0.48011933
71MP0005451_abnormal_body_composition0.47992308
72MP0001958_emphysema0.47015031
73MP0008961_abnormal_basal_metabolism0.46297159
74MP0009250_abnormal_appendicular_skeleto0.45734926
75MP0002909_abnormal_adrenal_gland0.45337193
76MP0004147_increased_porphyrin_level0.44135401
77MP0005319_abnormal_enzyme/_coenzyme0.43741121
78MP0005503_abnormal_tendon_morphology0.43248567
79MP0004043_abnormal_pH_regulation0.43204330
80MP0009384_cardiac_valve_regurgitation0.43096338
81MP0002078_abnormal_glucose_homeostasis0.42953532
82MP0003879_abnormal_hair_cell0.41882509
83MP0005187_abnormal_penis_morphology0.41221514
84MP0001614_abnormal_blood_vessel0.39947075
85MP0003045_fibrosis0.37947506
86MP0002114_abnormal_axial_skeleton0.37656529
87MP0004858_abnormal_nervous_system0.36006783
88MP0001784_abnormal_fluid_regulation0.34582675
89MP0000462_abnormal_digestive_system0.34494694
90MP0003948_abnormal_gas_homeostasis0.34223473
91MP0002249_abnormal_larynx_morphology0.32995329
92MP0000534_abnormal_ureter_morphology0.32965680
93MP0001299_abnormal_eye_distance/0.31631181
94MP0005334_abnormal_fat_pad0.31296278
95MP0009780_abnormal_chondrocyte_physiolo0.30454037
96MP0003984_embryonic_growth_retardation0.28158615
97MP0002822_catalepsy0.27511176
98MP0002088_abnormal_embryonic_growth/wei0.27256005
99MP0000579_abnormal_nail_morphology0.26117440
100MP0005595_abnormal_vascular_smooth0.25561250
101MP0009115_abnormal_fat_cell0.24768284
102MP0002896_abnormal_bone_mineralization0.24474836
103MP0002168_other_aberrant_phenotype0.24248444
104MP0002877_abnormal_melanocyte_morpholog0.23979572
105MP0005409_darkened_coat_color0.23744896
106MP0005376_homeostasis/metabolism_phenot0.22848048
107MP0000249_abnormal_blood_vessel0.22096956
108MP0001727_abnormal_embryo_implantation0.21813108
109MP0008569_lethality_at_weaning0.21154702
110MP0005083_abnormal_biliary_tract0.20870295
111MP0002295_abnormal_pulmonary_circulatio0.20750649
112MP0003091_abnormal_cell_migration0.20728144
113MP0005535_abnormal_body_temperature0.19955618
114MP0005023_abnormal_wound_healing0.19821315
115MP0001943_abnormal_respiration0.19654073
116MP0005452_abnormal_adipose_tissue0.19224213
117MP0003385_abnormal_body_wall0.17731590
118MP0002970_abnormal_white_adipose0.17040709
119MP0002118_abnormal_lipid_homeostasis0.16444721
120MP0000762_abnormal_tongue_morphology0.16205473

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.28064063
2Exercise-induced myalgia (HP:0003738)6.86636602
3Exercise-induced muscle cramps (HP:0003710)6.69747032
4Calf muscle hypertrophy (HP:0008981)6.65360401
5Muscle hypertrophy of the lower extremities (HP:0008968)6.48514131
6Muscle fiber splitting (HP:0003555)6.28525616
7Abnormality of the calf musculature (HP:0001430)5.50887450
8Hyporeflexia of lower limbs (HP:0002600)5.45129862
9Subaortic stenosis (HP:0001682)5.23894888
10Abnormality of the left ventricular outflow tract (HP:0011103)5.23894888
11* Ventricular tachycardia (HP:0004756)5.14643365
12Myoglobinuria (HP:0002913)4.97949429
13Atrial fibrillation (HP:0005110)4.86851444
14Muscle fiber inclusion bodies (HP:0100299)4.85988263
15Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.85222328
16EMG: myopathic abnormalities (HP:0003458)4.75548850
17Increased connective tissue (HP:0009025)4.70946069
18Type 1 muscle fiber predominance (HP:0003803)4.69584934
19Lipoatrophy (HP:0100578)4.63319641
20Difficulty running (HP:0009046)4.60026176
21Primary atrial arrhythmia (HP:0001692)4.55152679
22Right ventricular cardiomyopathy (HP:0011663)4.42759727
23Supraventricular tachycardia (HP:0004755)4.39176192
24Supraventricular arrhythmia (HP:0005115)4.32076426
25Nemaline bodies (HP:0003798)4.06992176
26Asymmetric septal hypertrophy (HP:0001670)4.04804303
27Myotonia (HP:0002486)4.00756955
28Rhabdomyolysis (HP:0003201)3.91885871
29Dilated cardiomyopathy (HP:0001644)3.87591634
30Syncope (HP:0001279)3.80254173
31Bundle branch block (HP:0011710)3.78683543
32Difficulty climbing stairs (HP:0003551)3.73815244
33Prolonged QT interval (HP:0001657)3.63659650
34Ventricular arrhythmia (HP:0004308)3.46208318
35Round ear (HP:0100830)3.26970668
36Increased variability in muscle fiber diameter (HP:0003557)3.26143136
37Distal arthrogryposis (HP:0005684)3.24926586
38Abnormality of skeletal muscle fiber size (HP:0012084)3.24269452
39Heart block (HP:0012722)3.23346745
40Muscle stiffness (HP:0003552)3.18986789
41Atrioventricular block (HP:0001678)3.16189631
42Abnormal atrioventricular conduction (HP:0005150)3.10641160
43Ventricular fibrillation (HP:0001663)3.05882436
44Myopathic facies (HP:0002058)3.02401277
45Neck muscle weakness (HP:0000467)2.98928096
46* Palpitations (HP:0001962)2.88256700
47Abnormal finger flexion creases (HP:0006143)2.76458921
48Distal lower limb muscle weakness (HP:0009053)2.71785700
49Mildly elevated creatine phosphokinase (HP:0008180)2.71546690
50Areflexia of lower limbs (HP:0002522)2.69036302
51Limb-girdle muscle atrophy (HP:0003797)2.65887939
52Ulnar deviation of the wrist (HP:0003049)2.62060132
53Fetal akinesia sequence (HP:0001989)2.61633875
54Abnormal EKG (HP:0003115)2.60573908
55Abnormality of the calcaneus (HP:0008364)2.49025664
56Distal lower limb amyotrophy (HP:0008944)2.45519400
57Facial diplegia (HP:0001349)2.44555083
58Popliteal pterygium (HP:0009756)2.40607330
59Slender build (HP:0001533)2.39451890
60Scapular winging (HP:0003691)2.38470895
61Gowers sign (HP:0003391)2.37645054
62Rimmed vacuoles (HP:0003805)2.36785317
63Testicular atrophy (HP:0000029)2.36600727
64EMG: neuropathic changes (HP:0003445)2.35398181
65Hypoplastic ischia (HP:0003175)2.35144408
66Generalized muscle weakness (HP:0003324)2.29716459
67Muscular dystrophy (HP:0003560)2.25184433
68Palmoplantar keratoderma (HP:0000982)2.19469695
69Calcaneovalgus deformity (HP:0001848)2.12140862
70* Left ventricular hypertrophy (HP:0001712)2.11008104
71Centrally nucleated skeletal muscle fibers (HP:0003687)2.10051905
72Waddling gait (HP:0002515)2.09885364
73Frequent falls (HP:0002359)2.08922503
74Ketoacidosis (HP:0001993)2.08410924
75Malignant hyperthermia (HP:0002047)2.06561334
76Abnormality of the ischium (HP:0003174)2.03787487
77Abnormality of the foot musculature (HP:0001436)2.03250312
78Abnormality of the neuromuscular junction (HP:0003398)2.02928846
79Fatigable weakness (HP:0003473)2.02928846
80Hepatic necrosis (HP:0002605)2.01034001
81Spinal rigidity (HP:0003306)2.00999839
82Abnormal mitochondria in muscle tissue (HP:0008316)1.98474084
83Absent phalangeal crease (HP:0006109)1.97958776
84Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.97160757
85Limb-girdle muscle weakness (HP:0003325)1.96006201
86Limited hip movement (HP:0008800)1.93869859
87Aortic aneurysm (HP:0004942)1.92734576
88Proximal amyotrophy (HP:0007126)1.91945045
89Foot dorsiflexor weakness (HP:0009027)1.91630291
90Acute necrotizing encephalopathy (HP:0006965)1.90793997
91Deformed tarsal bones (HP:0008119)1.90086878
92Respiratory insufficiency due to muscle weakness (HP:0002747)1.88671141
93Lower limb amyotrophy (HP:0007210)1.87889682
94Broad metatarsal (HP:0001783)1.87764934
95Hip contracture (HP:0003273)1.86666474
96Conjunctival hamartoma (HP:0100780)1.85805924
97Bulbar palsy (HP:0001283)1.84713721
98Hyperkalemia (HP:0002153)1.83085644
99Ragged-red muscle fibers (HP:0003200)1.81844449
100Metatarsus adductus (HP:0001840)1.81424158
101Increased muscle lipid content (HP:0009058)1.81158351
102Congestive heart failure (HP:0001635)1.80428811
103Sudden cardiac death (HP:0001645)1.80297140
104Weak cry (HP:0001612)1.78281487
105Hypoglycemic coma (HP:0001325)1.74669016
106Aplasia of the musculature (HP:0100854)1.73832024
107Progressive muscle weakness (HP:0003323)1.72834504
108Hepatocellular necrosis (HP:0001404)1.72500523
109Type 2 muscle fiber atrophy (HP:0003554)1.72012748
110Exercise intolerance (HP:0003546)1.71223031
111Abnormality of the shoulder girdle musculature (HP:0001435)1.69642634
112Large for gestational age (HP:0001520)1.68130678
113Abnormality of fatty-acid metabolism (HP:0004359)1.68120372
114Muscle fiber atrophy (HP:0100295)1.58750670
115Steppage gait (HP:0003376)1.56389718
116Amniotic constriction ring (HP:0009775)1.52637605
117Abnormality of placental membranes (HP:0011409)1.52637605
118Long clavicles (HP:0000890)1.51996819
119Nonprogressive disorder (HP:0003680)1.48993695
120Generalized amyotrophy (HP:0003700)1.46307923
121Ulnar deviation of finger (HP:0009465)1.45480235

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.76051479
2OBSCN4.79153491
3PHKG24.51885276
4PHKG14.51885276
5MYLK3.42408438
6DMPK3.22521164
7TRIB33.11536755
8LMTK23.03391582
9PDK42.95220463
10PDK32.95220463
11PKN22.82805557
12MUSK2.31686819
13PIK3CA2.28740617
14NEK12.19530420
15BCKDK2.08504842
16PDK21.82935748
17PINK11.78984305
18TIE11.69282783
19STK241.55431310
20LIMK11.49255382
21PIK3CG1.47703821
22MAP2K31.40919424
23MAP3K71.34608041
24ILK1.25763865
25NME11.24922603
26MAPK121.22582394
27PAK31.17831786
28MAPKAPK31.12987519
29PRKD11.10320465
30RIPK11.09272716
31CAMK2D1.00963803
32ROCK10.98820714
33MARK10.98125336
34TRPM70.95589706
35PRKAA10.86182955
36PRKAA20.85046661
37PDGFRA0.84261820
38CDC42BPA0.83576471
39GRK70.82940832
40MAP3K50.79634268
41EPHB10.76101190
42MAP3K30.74728387
43CCNB10.69603232
44ZAK0.69453952
45FLT30.65956181
46DAPK30.65638332
47STK38L0.63035968
48TGFBR20.62497928
49ROCK20.61834086
50SIK10.61594052
51MAPK40.59758467
52STK40.59244539
53PKN10.59006176
54PTK2B0.56920097
55PTK60.56745365
56WNK40.56460067
57DDR20.54830319
58INSRR0.54645268
59CAMK2B0.54504943
60DYRK1B0.53926688
61MAP3K60.52389342
62ICK0.50037306
63NEK90.49879232
64STK380.49364218
65CAMK40.47062860
66PRKACB0.46783472
67RPS6KC10.46393357
68RPS6KL10.46393357
69LATS10.45460006
70KDR0.43205423
71CAMK2G0.42101670
72AKT20.41496408
73TESK10.40434688
74CAMK2A0.40430752
75MAP3K100.40099482
76KSR20.39446478
77MAP3K130.39318580
78WNK10.39286113
79LATS20.39021500
80RPS6KA60.38551664
81SGK30.37710722
82EPHB20.36819832
83MARK20.36012986
84PTK20.35885843
85PDPK10.34988804
86MAP2K40.34566693
87MTOR0.33772065
88ERBB30.33464283
89CAMK10.33449274
90PRKACA0.30929531
91EPHA30.30763507
92MAP2K60.30726786
93FER0.29999757
94TAOK10.29150060
95EEF2K0.29141453
96LRRK20.28909087
97RPS6KB20.28860540
98PAK20.28708186
99PRKACG0.28393017
100PDK10.24493576
101PRKCH0.24024146
102PRKCE0.23722007
103MET0.23519504
104RPS6KA10.21999112
105MAPK110.21605456
106RET0.20853392
107RPS6KA20.20697666
108MAPK100.20270006
109PRKG10.19455002
110PRKD30.18946947
111ERN10.18446310
112MAP2K10.18116219
113PRKG20.17632542
114RPS6KA30.17349953
115MOS0.17323121
116SGK20.16651043
117MAP3K110.16303785
118MAPK70.16259815
119PRPF4B0.15499463
120PAK60.15312177
121MAP3K10.14898844
122RAF10.11721217

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.52790791
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.27958583
3Cardiac muscle contraction_Homo sapiens_hsa042604.23241234
4Dilated cardiomyopathy_Homo sapiens_hsa054144.19715401
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.12989775
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.09035222
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.05470746
8Propanoate metabolism_Homo sapiens_hsa006402.87143704
9Parkinsons disease_Homo sapiens_hsa050122.57534723
10Fatty acid degradation_Homo sapiens_hsa000712.51498675
11Oxidative phosphorylation_Homo sapiens_hsa001902.40094500
12Carbon metabolism_Homo sapiens_hsa012002.32256025
13Alzheimers disease_Homo sapiens_hsa050101.96744701
14Viral myocarditis_Homo sapiens_hsa054161.95358940
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.92432011
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.90025565
17Fatty acid metabolism_Homo sapiens_hsa012121.87438384
18Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.84374995
19Pyruvate metabolism_Homo sapiens_hsa006201.60451788
20Huntingtons disease_Homo sapiens_hsa050161.48134754
21Starch and sucrose metabolism_Homo sapiens_hsa005001.34870672
22Insulin resistance_Homo sapiens_hsa049311.33218898
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.31830350
24Glucagon signaling pathway_Homo sapiens_hsa049221.30872222
25Insulin signaling pathway_Homo sapiens_hsa049101.21444167
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.21102091
27Adipocytokine signaling pathway_Homo sapiens_hsa049201.20285437
28Focal adhesion_Homo sapiens_hsa045101.17554002
29cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16363746
30Biosynthesis of amino acids_Homo sapiens_hsa012301.12154479
31Butanoate metabolism_Homo sapiens_hsa006501.04910665
32Oxytocin signaling pathway_Homo sapiens_hsa049211.00490062
33PPAR signaling pathway_Homo sapiens_hsa033200.99269442
34AMPK signaling pathway_Homo sapiens_hsa041520.94574547
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.94539782
36Calcium signaling pathway_Homo sapiens_hsa040200.91486799
37Tight junction_Homo sapiens_hsa045300.89195828
38Vascular smooth muscle contraction_Homo sapiens_hsa042700.87858419
39ECM-receptor interaction_Homo sapiens_hsa045120.87650440
40Fatty acid elongation_Homo sapiens_hsa000620.87610280
41HIF-1 signaling pathway_Homo sapiens_hsa040660.78632456
42Galactose metabolism_Homo sapiens_hsa000520.74854906
43Arginine and proline metabolism_Homo sapiens_hsa003300.73664224
44Lysine degradation_Homo sapiens_hsa003100.71373419
45Arginine biosynthesis_Homo sapiens_hsa002200.70210189
46Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.69406052
47Long-term potentiation_Homo sapiens_hsa047200.66932833
48Central carbon metabolism in cancer_Homo sapiens_hsa052300.63464318
49Circadian rhythm_Homo sapiens_hsa047100.63062973
50Amoebiasis_Homo sapiens_hsa051460.62238706
51Tryptophan metabolism_Homo sapiens_hsa003800.62176006
52Type II diabetes mellitus_Homo sapiens_hsa049300.61992328
53Fructose and mannose metabolism_Homo sapiens_hsa000510.59492434
54Adherens junction_Homo sapiens_hsa045200.59012454
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58401309
56Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57519433
57beta-Alanine metabolism_Homo sapiens_hsa004100.56327421
58Gastric acid secretion_Homo sapiens_hsa049710.55572422
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55302260
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52385173
61Fatty acid biosynthesis_Homo sapiens_hsa000610.51596092
62Salivary secretion_Homo sapiens_hsa049700.51491672
63Renin secretion_Homo sapiens_hsa049240.51118296
64Melanogenesis_Homo sapiens_hsa049160.47119640
65Proteoglycans in cancer_Homo sapiens_hsa052050.46931158
66Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.46435960
67Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44861552
68Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.42047224
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.40941273
70Insulin secretion_Homo sapiens_hsa049110.38704478
71cAMP signaling pathway_Homo sapiens_hsa040240.38365149
72Platelet activation_Homo sapiens_hsa046110.37860945
73GnRH signaling pathway_Homo sapiens_hsa049120.35473101
74Phenylalanine metabolism_Homo sapiens_hsa003600.35396987
75Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34050562
76VEGF signaling pathway_Homo sapiens_hsa043700.33894352
77Glioma_Homo sapiens_hsa052140.31905553
78Renal cell carcinoma_Homo sapiens_hsa052110.31574315
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.31236475
80mTOR signaling pathway_Homo sapiens_hsa041500.30599484
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.29903951
82Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.29345261
83Amphetamine addiction_Homo sapiens_hsa050310.28121702
84Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.27121517
85FoxO signaling pathway_Homo sapiens_hsa040680.24696762
86Peroxisome_Homo sapiens_hsa041460.24632081
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24624582
88Nitrogen metabolism_Homo sapiens_hsa009100.23542693
89Endometrial cancer_Homo sapiens_hsa052130.23009749
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.22149703
91Long-term depression_Homo sapiens_hsa047300.21175701
92Dorso-ventral axis formation_Homo sapiens_hsa043200.18855492
93Hippo signaling pathway_Homo sapiens_hsa043900.17814868
94MAPK signaling pathway_Homo sapiens_hsa040100.17746820
95Circadian entrainment_Homo sapiens_hsa047130.17450668
96Gap junction_Homo sapiens_hsa045400.17218113
97Tyrosine metabolism_Homo sapiens_hsa003500.16652479
98Ovarian steroidogenesis_Homo sapiens_hsa049130.16509810
99Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.15756793
100Small cell lung cancer_Homo sapiens_hsa052220.15235579
101Sulfur relay system_Homo sapiens_hsa041220.14107664
102Pentose phosphate pathway_Homo sapiens_hsa000300.13434991
103Toxoplasmosis_Homo sapiens_hsa051450.13335218
104Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.12466982
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.11922749
106PI3K-Akt signaling pathway_Homo sapiens_hsa041510.11058304
107Cholinergic synapse_Homo sapiens_hsa047250.10992867
108Protein digestion and absorption_Homo sapiens_hsa049740.10373113
109Metabolic pathways_Homo sapiens_hsa011000.10370519
110Notch signaling pathway_Homo sapiens_hsa043300.10013142
111Pancreatic secretion_Homo sapiens_hsa049720.09505695
112Bile secretion_Homo sapiens_hsa049760.08128112
113Fat digestion and absorption_Homo sapiens_hsa049750.07545234
114Estrogen signaling pathway_Homo sapiens_hsa049150.05930731
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.05168129

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