CACNG1

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: Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle fiber development (GO:0048741)9.73918490
2skeletal muscle adaptation (GO:0043501)9.34649679
3actin filament-based movement (GO:0030048)8.50559279
4myotube cell development (GO:0014904)8.29131513
5plasma membrane repair (GO:0001778)8.04406646
6* sarcoplasmic reticulum calcium ion transport (GO:0070296)7.61484410
7response to stimulus involved in regulation of muscle adaptation (GO:0014874)7.18899140
8striated muscle contraction (GO:0006941)6.87632942
9skeletal muscle tissue regeneration (GO:0043403)6.81901901
10striated muscle atrophy (GO:0014891)6.55752299
11sarcomere organization (GO:0045214)6.54137377
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.45833674
13response to inactivity (GO:0014854)6.43209230
14* muscle contraction (GO:0006936)5.82014010
15glycogen catabolic process (GO:0005980)5.75057522
16response to muscle activity (GO:0014850)5.70476767
17creatine metabolic process (GO:0006600)5.69802903
18regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.68969221
19muscle atrophy (GO:0014889)5.68613207
20muscle fiber development (GO:0048747)5.64659575
21myofibril assembly (GO:0030239)5.54574048
22regulation of cell communication by electrical coupling (GO:0010649)5.43367556
23glucan catabolic process (GO:0009251)5.38474566
24striated muscle adaptation (GO:0014888)5.28244665
25purine nucleotide salvage (GO:0032261)5.22636223
26muscle cell fate commitment (GO:0042693)5.16547417
27* muscle system process (GO:0003012)5.16423100
28negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.15960939
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.13729883
30carnitine shuttle (GO:0006853)5.05254745
31cellular polysaccharide catabolic process (GO:0044247)4.98661294
32pyrimidine ribonucleoside catabolic process (GO:0046133)4.86622992
33myoblast fusion (GO:0007520)4.78563003
34glycogen biosynthetic process (GO:0005978)4.75932124
35glucan biosynthetic process (GO:0009250)4.75932124
36polysaccharide catabolic process (GO:0000272)4.72135289
37actomyosin structure organization (GO:0031032)4.70935103
38positive regulation of myotube differentiation (GO:0010831)4.68536621
39regulation of actin filament-based movement (GO:1903115)4.62865360
40skeletal muscle tissue development (GO:0007519)4.62198502
41positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.61026671
42NADH metabolic process (GO:0006734)4.60342403
43muscle organ development (GO:0007517)4.59592308
44cytidine metabolic process (GO:0046087)4.57950863
45cytidine catabolic process (GO:0006216)4.57950863
46cytidine deamination (GO:0009972)4.57950863
47regulation of skeletal muscle cell differentiation (GO:2001014)4.54936561
48muscle cell cellular homeostasis (GO:0046716)4.53698159
49muscle structure development (GO:0061061)4.51569784
50IMP metabolic process (GO:0046040)4.46398681
51syncytium formation by plasma membrane fusion (GO:0000768)4.27990993
52neuromuscular synaptic transmission (GO:0007274)4.27668058
53muscle adaptation (GO:0043500)4.25503437
54fatty acid transmembrane transport (GO:1902001)4.22978685
55cardiac muscle hypertrophy (GO:0003300)4.22684028
56syncytium formation (GO:0006949)4.19423023
57regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.18737337
58striated muscle cell development (GO:0055002)4.17469725
59myotube differentiation (GO:0014902)4.15716730
60muscle organ morphogenesis (GO:0048644)4.13787642
61striated muscle hypertrophy (GO:0014897)4.03254437
62negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.99483347
63glycogen metabolic process (GO:0005977)3.99349013
64fructose metabolic process (GO:0006000)3.97246829
65glucan metabolic process (GO:0044042)3.91381125
66cellular glucan metabolic process (GO:0006073)3.91381125
67negative regulation of potassium ion transmembrane transport (GO:1901380)3.91094959
68positive regulation of myoblast differentiation (GO:0045663)3.90445773
692-oxoglutarate metabolic process (GO:0006103)3.87151026
70muscle tissue morphogenesis (GO:0060415)3.83317120
71regulation of acyl-CoA biosynthetic process (GO:0050812)3.80258495
72response to activity (GO:0014823)3.76880336
73carnitine transmembrane transport (GO:1902603)3.70703137
74regulation of relaxation of muscle (GO:1901077)3.70142708
75gluconeogenesis (GO:0006094)3.67188956
76regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.66280308
77cardiac muscle contraction (GO:0060048)3.65007667
78regulation of myoblast differentiation (GO:0045661)3.63427956
79negative regulation of protein localization to cell surface (GO:2000009)3.61658420
80negative regulation of calcium ion transmembrane transport (GO:1903170)3.61041979
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.61041979
82muscle cell development (GO:0055001)3.60236688
83muscle hypertrophy (GO:0014896)3.59629603
84regulation of coenzyme metabolic process (GO:0051196)3.59536806
85regulation of cofactor metabolic process (GO:0051193)3.59536806
86cardiac muscle tissue morphogenesis (GO:0055008)3.59230144
87negative regulation of skeletal muscle tissue development (GO:0048642)3.56547601
88neuromuscular junction development (GO:0007528)3.55421955
89negative regulation of muscle hypertrophy (GO:0014741)3.55129080
90skeletal muscle cell differentiation (GO:0035914)3.47186455
91positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.46878878
92IMP biosynthetic process (GO:0006188)3.46659736
93negative regulation of muscle contraction (GO:0045932)3.42334005
94adult heart development (GO:0007512)3.41615152
95regulation of striated muscle contraction (GO:0006942)3.41298943
96ubiquinone biosynthetic process (GO:0006744)3.40704022
97cardiac muscle cell development (GO:0055013)3.39001475
98regulation of calcium ion transmembrane transporter activity (GO:1901019)3.37035114
99regulation of calcium ion transmembrane transport (GO:1903169)3.37035114
100amino-acid betaine transport (GO:0015838)3.36993405
101carnitine transport (GO:0015879)3.36993405
102negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.35004486
103cellular response to dexamethasone stimulus (GO:0071549)3.32883240
104regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.32724689
105neuronal action potential propagation (GO:0019227)3.32392949
106regulation of sarcomere organization (GO:0060297)3.32386376
107hexose biosynthetic process (GO:0019319)3.29559497
108regulation of membrane repolarization (GO:0060306)3.28948476
109heart process (GO:0003015)3.28127567
110heart contraction (GO:0060047)3.28127567
111regulation of muscle system process (GO:0090257)3.26226119
112cardiac muscle adaptation (GO:0014887)3.26065281
113cardiac muscle hypertrophy in response to stress (GO:0014898)3.26065281
114muscle hypertrophy in response to stress (GO:0003299)3.26065281
115regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.16116824
116response to dexamethasone (GO:0071548)3.09406509
117cellular carbohydrate catabolic process (GO:0044275)3.07859638
118regulation of myotube differentiation (GO:0010830)3.07324524
119cardiac myofibril assembly (GO:0055003)3.04624045
120positive regulation of skeletal muscle tissue development (GO:0048643)3.03166450
121striated muscle tissue development (GO:0014706)3.01576212
122tricarboxylic acid cycle (GO:0006099)2.97112795
123cellular polysaccharide biosynthetic process (GO:0033692)2.92754988
124regulation of p38MAPK cascade (GO:1900744)2.91668151
125actin-myosin filament sliding (GO:0033275)13.7845300
126muscle filament sliding (GO:0030049)13.7845300
127skeletal muscle contraction (GO:0003009)12.4522840
128regulation of skeletal muscle contraction (GO:0014819)11.7389465
129actin-mediated cell contraction (GO:0070252)11.3377373

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.01326145
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.78807534
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.78441711
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.75911353
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.16743280
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.13593951
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.06932633
8TBX20_22328084_ChIP-Seq_HEART_Mouse2.56411185
9TBX20_22080862_ChIP-Seq_HEART_Mouse2.56411185
10ZNF263_19887448_ChIP-Seq_K562_Human2.36007216
11ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.33577020
12ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.23577490
13CDX2_19796622_ChIP-Seq_MESCs_Mouse2.22997369
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.16786637
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.12817908
16BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.09744079
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.03104089
18TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.99226213
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.86972398
20CLOCK_20551151_ChIP-Seq_293T_Human1.84034862
21ESR2_21235772_ChIP-Seq_MCF-7_Human1.83668726
22RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.79173805
23CTCF_21964334_ChIP-Seq_BJAB-B_Human1.75579012
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.74433113
25CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.63517718
26AR_21572438_ChIP-Seq_LNCaP_Human1.63344137
27CTCF_27219007_Chip-Seq_Bcells_Human1.60400672
28NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.59048395
29PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.58924103
30BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.55544368
31EP300_21415370_ChIP-Seq_HL-1_Mouse1.54355243
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.53849354
33SMC1_22415368_ChIP-Seq_MEFs_Mouse1.48917716
34ZNF274_21170338_ChIP-Seq_K562_Hela1.47670710
35CTCF_21964334_Chip-Seq_Bcells_Human1.42685829
36TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.41169885
37* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.40186097
38SA1_27219007_Chip-Seq_Bcells_Human1.37087645
39SMC3_22415368_ChIP-Seq_MEFs_Mouse1.35788256
40KDM2B_26808549_Chip-Seq_DND41_Human1.35668577
41NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.34688040
42ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34413742
43STAT6_21828071_ChIP-Seq_BEAS2B_Human1.34086689
44DNAJC2_21179169_ChIP-ChIP_NT2_Human1.33876136
45UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.33604507
46RACK7_27058665_Chip-Seq_MCF-7_Human1.29786252
47FOXH1_21741376_ChIP-Seq_ESCs_Human1.29311385
48IGF1R_20145208_ChIP-Seq_DFB_Human1.28535973
49P63_26484246_Chip-Seq_KERATINOCYTES_Human1.26435906
50ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.25439256
51TP63_17297297_ChIP-ChIP_HaCaT_Human1.24726252
52WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.24261799
53P300_27058665_Chip-Seq_ZR-75-30cells_Human1.23266238
54LXR_22292898_ChIP-Seq_THP-1_Human1.22962746
55ATF3_27146783_Chip-Seq_COLON_Human1.22591012
56STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.22371258
57RBPJ_22232070_ChIP-Seq_NCS_Mouse1.22223482
58CJUN_26792858_Chip-Seq_BT549_Human1.21567995
59CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.21376650
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20780153
61TP53_20018659_ChIP-ChIP_R1E_Mouse1.18493089
62CTCF_27219007_Chip-Seq_ERYTHROID_Human1.17125250
63PPARA_22158963_ChIP-Seq_LIVER_Mouse1.16456000
64HIF1A_21447827_ChIP-Seq_MCF-7_Human1.15790635
65CREB1_26743006_Chip-Seq_LNCaP_Human1.11774659
66PPAR_26484153_Chip-Seq_NCI-H1993_Human1.11320902
67ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.11124703
68* RARB_27405468_Chip-Seq_BRAIN_Mouse1.11100152
69KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10467190
70NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.08605666
71KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.08187365
72EZH2_27294783_Chip-Seq_ESCs_Mouse1.08131466
73TDRD3_21172665_ChIP-Seq_MCF-7_Human1.07929400
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.07905183
75OCT4_20526341_ChIP-Seq_ESCs_Human1.06745808
76NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.06623548
77NFIB_24661679_ChIP-Seq_LUNG_Mouse1.06604978
78KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05992478
79* MYC_27129775_Chip-Seq_CORNEA_Mouse1.05674785
80DROSHA_22980978_ChIP-Seq_HELA_Human1.05580762
81LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.05176120
82ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.05020882
83SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.04809769
84STAT1_20625510_ChIP-Seq_HELA_Human1.04446103
85ELK3_25401928_ChIP-Seq_HUVEC_Human1.04295893
86GATA4_21415370_ChIP-Seq_HL-1_Mouse1.04065321
87TCF7_22412390_ChIP-Seq_EML_Mouse1.03743806
88SPI1_20517297_ChIP-Seq_HL60_Human1.01877657
89GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.99565765
90* CBP_20019798_ChIP-Seq_JUKART_Human0.99122509
91* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.99122509
92SUZ12_27294783_Chip-Seq_NPCs_Mouse0.98707101
93* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98184158
94FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.97704773
95RAD21_21589869_ChIP-Seq_MESCs_Mouse0.97583275
96NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.97442530
97NRF2_20460467_ChIP-Seq_MEFs_Mouse0.97442530
98* CRX_20693478_ChIP-Seq_RETINA_Mouse0.97024049
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.95972457
100TRIM28_21343339_ChIP-Seq_HEK293_Human0.95178200
101MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94885577
102EZH2_22144423_ChIP-Seq_EOC_Human0.94635466
103RXR_22158963_ChIP-Seq_LIVER_Mouse0.94311538
104CTCF_26484167_Chip-Seq_Bcells_Mouse0.94245942
105ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93914755
106PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.93442475
107YY1_22570637_ChIP-Seq_MALME-3M_Human0.93008308
108KDM2B_26808549_Chip-Seq_K562_Human0.91897253
109RAC3_21632823_ChIP-Seq_H3396_Human0.90523153
110SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.89783763
111MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.88970449
112MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.88663641
113CSB_26484114_Chip-Seq_FIBROBLAST_Human0.87980241
114OCT4_21477851_ChIP-Seq_ESCs_Mouse0.87822434
115EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.86366624
116JARID2_20075857_ChIP-Seq_MESCs_Mouse0.85683578
117TP63_22573176_ChIP-Seq_HFKS_Human0.85339198
118EZH2_27294783_Chip-Seq_NPCs_Mouse0.84895054
119HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.84352820
120SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.84106761
121P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.83828025
122P68_20966046_ChIP-Seq_HELA_Human0.83564472
123KLF4_19829295_ChIP-Seq_ESCs_Human0.82777144
124GATA3_21867929_ChIP-Seq_CD8_Mouse0.81862401
125CEBPB_22108803_ChIP-Seq_LS180_Human0.81630387
126ERG_21242973_ChIP-ChIP_JURKAT_Human0.81543955
127SUZ12_27294783_Chip-Seq_ESCs_Mouse0.81533132
128EZH2_27304074_Chip-Seq_ESCs_Mouse0.81342943
129TP53_18474530_ChIP-ChIP_U2OS_Human0.81338418
130GATA1_19941827_ChIP-Seq_MEL_Mouse0.80291408
131E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.78916429
132DPY_21335234_ChIP-Seq_ESCs_Mouse0.78720496
133EGR1_19032775_ChIP-ChIP_M12_Human0.78551219
134* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.78522015
135EZH2_18974828_ChIP-Seq_MESCs_Mouse0.77512504
136RNF2_18974828_ChIP-Seq_MESCs_Mouse0.77512504
137SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.77082654
138PCGF2_27294783_Chip-Seq_ESCs_Mouse0.76574133
139SA1_27219007_Chip-Seq_ERYTHROID_Human0.74636055
140SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.73862758

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000749_muscle_degeneration6.96377567
2MP0000751_myopathy6.20487794
3* MP0004145_abnormal_muscle_electrophysio6.02329632
4MP0003646_muscle_fatigue5.54976801
5MP0000747_muscle_weakness4.79038860
6* MP0002106_abnormal_muscle_physiology4.31155429
7MP0000759_abnormal_skeletal_muscle4.09421688
8MP0000750_abnormal_muscle_regeneration3.81555656
9MP0004036_abnormal_muscle_relaxation3.73495944
10MP0002269_muscular_atrophy3.72521975
11MP0004087_abnormal_muscle_fiber3.69868606
12* MP0005369_muscle_phenotype3.64126455
13MP0002837_dystrophic_cardiac_calcinosis3.49856476
14MP0005451_abnormal_body_composition3.44775574
15MP0000733_abnormal_muscle_development3.29899926
16MP0005620_abnormal_muscle_contractility3.02628016
17MP0004130_abnormal_muscle_cell2.94206097
18MP0004233_abnormal_muscle_weight2.85952353
19MP0002108_abnormal_muscle_morphology2.44202612
20MP0004270_analgesia2.05570172
21MP0005330_cardiomyopathy1.96386908
22MP0002332_abnormal_exercise_endurance1.95091988
23MP0004084_abnormal_cardiac_muscle1.75879145
24MP0002971_abnormal_brown_adipose1.64272472
25MP0000013_abnormal_adipose_tissue1.61672940
26MP0006036_abnormal_mitochondrial_physio1.60125594
27MP0004185_abnormal_adipocyte_glucose1.51065301
28MP0004215_abnormal_myocardial_fiber1.36172517
29MP0002972_abnormal_cardiac_muscle1.28709824
30MP0003950_abnormal_plasma_membrane1.24873292
31MP0010630_abnormal_cardiac_muscle1.22761783
32MP0004484_altered_response_of1.22320511
33MP0005666_abnormal_adipose_tissue1.20158364
34MP0004134_abnormal_chest_morphology1.12316733
35MP0002822_catalepsy1.11385771
36MP0005375_adipose_tissue_phenotype1.10673360
37MP0003705_abnormal_hypodermis_morpholog1.07689601
38MP0003221_abnormal_cardiomyocyte_apopto1.00589710
39MP0001299_abnormal_eye_distance/0.98134071
40MP0002234_abnormal_pharynx_morphology0.97582111
41MP0005266_abnormal_metabolism0.95846670
42MP0003806_abnormal_nucleotide_metabolis0.94577989
43MP0000003_abnormal_adipose_tissue0.93656058
44MP0009250_abnormal_appendicular_skeleto0.92224790
45MP0005275_abnormal_skin_tensile0.90247960
46MP0001661_extended_life_span0.86973064
47MP0008438_abnormal_cutaneous_collagen0.81724655
48MP0006035_abnormal_mitochondrial_morpho0.79550250
49MP0001544_abnormal_cardiovascular_syste0.77632511
50MP0005385_cardiovascular_system_phenoty0.77632511
51MP0000762_abnormal_tongue_morphology0.73500610
52MP0005503_abnormal_tendon_morphology0.73198231
53MP0003137_abnormal_impulse_conducting0.67427510
54MP0003879_abnormal_hair_cell0.66285440
55MP0000372_irregular_coat_pigmentation0.63208497
56MP0003656_abnormal_erythrocyte_physiolo0.62840926
57MP0010030_abnormal_orbit_morphology0.58810116
58MP0008961_abnormal_basal_metabolism0.57623966
59MP0002896_abnormal_bone_mineralization0.57393570
60MP0002114_abnormal_axial_skeleton0.56243296
61MP0004147_increased_porphyrin_level0.55681207
62MP0001346_abnormal_lacrimal_gland0.54541770
63MP0005334_abnormal_fat_pad0.54533310
64MP0005670_abnormal_white_adipose0.52134428
65MP0000266_abnormal_heart_morphology0.51988122
66MP0002078_abnormal_glucose_homeostasis0.50498202
67MP0003959_abnormal_lean_body0.48318199
68MP0008569_lethality_at_weaning0.47950073
69MP0005452_abnormal_adipose_tissue0.47390610
70MP0002089_abnormal_postnatal_growth/wei0.47087028
71MP0009780_abnormal_chondrocyte_physiolo0.45454438
72MP0008775_abnormal_heart_ventricle0.41849867
73MP0004043_abnormal_pH_regulation0.41395253
74MP0006138_congestive_heart_failure0.40522533
75MP0004142_abnormal_muscle_tone0.40510782
76MP0003045_fibrosis0.39852029
77MP0004510_myositis0.39306299
78MP0002127_abnormal_cardiovascular_syste0.39179751
79MP0000343_altered_response_to0.38383778
80MP0003948_abnormal_gas_homeostasis0.38327504
81MP0002877_abnormal_melanocyte_morpholog0.38084521
82MP0005166_decreased_susceptibility_to0.36305491
83MP0001943_abnormal_respiration0.35993534
84MP0005319_abnormal_enzyme/_coenzyme0.34930585
85MP0001243_abnormal_dermal_layer0.34757039
86MP0003385_abnormal_body_wall0.34647585
87MP0001849_ear_inflammation0.34171499
88MP0002249_abnormal_larynx_morphology0.33704757
89MP0009672_abnormal_birth_weight0.33009995
90MP0002932_abnormal_joint_morphology0.32271056
91MP0005584_abnormal_enzyme/coenzyme_acti0.31439435
92MP0004197_abnormal_fetal_growth/weight/0.31174876
93MP0009115_abnormal_fat_cell0.31073608
94MP0002734_abnormal_mechanical_nocicepti0.30759094
95MP0003755_abnormal_palate_morphology0.30661660
96MP0005083_abnormal_biliary_tract0.30574284
97MP0000230_abnormal_systemic_arterial0.29940628
98MP0005535_abnormal_body_temperature0.29310170
99MP0002638_abnormal_pupillary_reflex0.28765842
100MP0005423_abnormal_somatic_nervous0.28615306
101MP0005076_abnormal_cell_differentiation0.27348057
102MP0002128_abnormal_blood_circulation0.27323614
103MP0000767_abnormal_smooth_muscle0.26998841
104MP0006276_abnormal_autonomic_nervous0.26678709
105MP0005167_abnormal_blood-brain_barrier0.26224307
106MP0004858_abnormal_nervous_system0.25968878
107MP0005165_increased_susceptibility_to0.25881396
108MP0003195_calcinosis0.25785438
109MP0000163_abnormal_cartilage_morphology0.25700178
110MP0002066_abnormal_motor_capabilities/c0.24539065
111MP0004085_abnormal_heartbeat0.23971003
112MP0002115_abnormal_skeleton_extremities0.23511417
113MP0005332_abnormal_amino_acid0.23375025
114MP0003828_pulmonary_edema0.23227362
115MP0002109_abnormal_limb_morphology0.21413416
116MP0008770_decreased_survivor_rate0.21106604
117MP0005376_homeostasis/metabolism_phenot0.21004433
118MP0005187_abnormal_penis_morphology0.19645686
119MP0002067_abnormal_sensory_capabilities0.18678911
120MP0001542_abnormal_bone_strength0.17385274

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.89488713
2Nemaline bodies (HP:0003798)9.43296433
3Type 1 muscle fiber predominance (HP:0003803)7.96227585
4Distal arthrogryposis (HP:0005684)7.60403350
5Exercise-induced myalgia (HP:0003738)7.21567859
6Myopathic facies (HP:0002058)6.63290563
7Exercise-induced muscle cramps (HP:0003710)6.42411159
8Round ear (HP:0100830)6.40922707
9Ulnar deviation of the wrist (HP:0003049)6.28673531
10Muscle hypertrophy of the lower extremities (HP:0008968)5.76951730
11Calcaneovalgus deformity (HP:0001848)5.44600362
12Calf muscle hypertrophy (HP:0008981)5.23368685
13Deformed tarsal bones (HP:0008119)5.06118646
14Absent phalangeal crease (HP:0006109)4.99561840
15Difficulty running (HP:0009046)4.96744479
16Muscle fiber splitting (HP:0003555)4.96424491
17Malignant hyperthermia (HP:0002047)4.67324564
18Hyporeflexia of lower limbs (HP:0002600)4.59894816
19EMG: myopathic abnormalities (HP:0003458)4.47019524
20Fetal akinesia sequence (HP:0001989)4.30619591
21Abnormal finger flexion creases (HP:0006143)4.17431225
22Abnormality of skeletal muscle fiber size (HP:0012084)4.15958933
23Myoglobinuria (HP:0002913)4.14423228
24Increased connective tissue (HP:0009025)4.13995077
25Abnormality of the calf musculature (HP:0001430)3.98565821
26Muscle stiffness (HP:0003552)3.82038762
27Fatigable weakness (HP:0003473)3.69327448
28Abnormality of the neuromuscular junction (HP:0003398)3.69327448
29Increased variability in muscle fiber diameter (HP:0003557)3.59397404
30Neck muscle weakness (HP:0000467)3.54602574
31Myotonia (HP:0002486)3.51435394
32Difficulty climbing stairs (HP:0003551)3.49600503
33Rhabdomyolysis (HP:0003201)3.48348373
34Abnormality of the calcaneus (HP:0008364)3.38582026
35Frequent falls (HP:0002359)3.27379070
36Popliteal pterygium (HP:0009756)3.17996250
37Slender build (HP:0001533)3.13489066
38Weak cry (HP:0001612)3.13209734
39Bulbar palsy (HP:0001283)3.10530760
40Type 2 muscle fiber atrophy (HP:0003554)2.92745594
41Mildly elevated creatine phosphokinase (HP:0008180)2.91309712
42Rimmed vacuoles (HP:0003805)2.87728860
43Subaortic stenosis (HP:0001682)2.87428656
44Abnormality of the left ventricular outflow tract (HP:0011103)2.87428656
45Shoulder girdle muscle weakness (HP:0003547)2.85823853
46Pelvic girdle muscle weakness (HP:0003749)2.85494445
47Gowers sign (HP:0003391)2.84918608
48Abnormality of the hip-girdle musculature (HP:0001445)2.78199601
49Abnormality of the musculature of the pelvis (HP:0001469)2.78199601
50Areflexia of lower limbs (HP:0002522)2.76520671
51Amniotic constriction ring (HP:0009775)2.76187626
52Abnormality of placental membranes (HP:0011409)2.76187626
53Generalized muscle weakness (HP:0003324)2.70191282
54Muscle fiber atrophy (HP:0100295)2.64682200
55Bundle branch block (HP:0011710)2.59006362
56EMG: neuropathic changes (HP:0003445)2.55462930
57Centrally nucleated skeletal muscle fibers (HP:0003687)2.54959783
58Spinal rigidity (HP:0003306)2.52806792
59Aplasia of the musculature (HP:0100854)2.51798810
60Distal lower limb muscle weakness (HP:0009053)2.43044867
61Hyperkalemia (HP:0002153)2.40839724
62Scapular winging (HP:0003691)2.30706868
63Hip contracture (HP:0003273)2.29292732
64Nonprogressive disorder (HP:0003680)2.27030229
65Hypoplastic ischia (HP:0003175)2.26786639
66Asymmetric septal hypertrophy (HP:0001670)2.25913400
67Long clavicles (HP:0000890)2.24635616
68Sudden death (HP:0001699)2.24449593
69Dilated cardiomyopathy (HP:0001644)2.23543536
70Metatarsus adductus (HP:0001840)2.23277106
71Distal lower limb amyotrophy (HP:0008944)2.20988982
72Limb-girdle muscle atrophy (HP:0003797)2.17894273
73Facial diplegia (HP:0001349)2.14584758
74Muscular dystrophy (HP:0003560)2.13222350
75Limb-girdle muscle weakness (HP:0003325)2.11825116
76Easy fatigability (HP:0003388)2.10167865
77Ulnar deviation of finger (HP:0009465)2.09233091
78Ventricular tachycardia (HP:0004756)2.08560802
79Abnormality of the shoulder girdle musculature (HP:0001435)2.07187591
80Proximal amyotrophy (HP:0007126)2.04707315
81Waddling gait (HP:0002515)2.03365116
82Respiratory insufficiency due to muscle weakness (HP:0002747)2.01632732
83Paralysis (HP:0003470)2.00631543
84Muscle fiber inclusion bodies (HP:0100299)10.1040379
85Lipoatrophy (HP:0100578)1.98459477
86Abnormality of the ischium (HP:0003174)1.97313700
87Akinesia (HP:0002304)1.96180429
88Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.96107095
89Progressive muscle weakness (HP:0003323)1.94150021
90Abnormality of the foot musculature (HP:0001436)1.82276049
91Tarsal synostosis (HP:0008368)1.79349643
92Thin ribs (HP:0000883)1.73739287
93Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.71609216
94Heart block (HP:0012722)1.68534324
95Achilles tendon contracture (HP:0001771)1.67565026
96Foot dorsiflexor weakness (HP:0009027)1.66156203
97Lower limb amyotrophy (HP:0007210)1.64315938
98Exercise intolerance (HP:0003546)1.61407496
99Pterygium (HP:0001059)1.61308208
100Synostosis involving bones of the lower limbs (HP:0009138)1.60936316
101Synostosis involving bones of the feet (HP:0009140)1.60936316
102Abnormal atrioventricular conduction (HP:0005150)1.59074084
103Limited hip movement (HP:0008800)1.58769553
104Webbed neck (HP:0000465)1.55850898
105Congenital hip dislocation (HP:0001374)1.55546324
106Adducted thumb (HP:0001181)1.53807122
107Ragged-red muscle fibers (HP:0003200)1.51710322
108Abnormality of the Achilles tendon (HP:0005109)1.51509366
109Ventricular arrhythmia (HP:0004308)1.51070712
110Increased density of long bones (HP:0006392)1.51068947
111Breech presentation (HP:0001623)1.49586836

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.69338555
2TTN5.90939961
3PHKG14.92438453
4PHKG24.92438453
5PIK3CG4.64698934
6NME14.20051018
7MUSK2.97554560
8MAP2K32.76932645
9TRIB32.67827430
10MAP3K72.03476880
11NEK12.02426156
12PINK11.98158605
13MAPK121.71201320
14PDK41.69277516
15PDK31.69277516
16DMPK1.64065233
17PIK3CA1.42610441
18MAP2K41.42182869
19MOS1.35375018
20MAP2K61.21810935
21CCNB11.16695975
22PDK21.14681985
23MAPKAPK31.13640177
24BCKDK1.11585385
25MARK11.10177633
26PKN20.88291876
27TRPM70.86953435
28MAP3K30.84360708
29AKT20.83274996
30NEK90.78939609
31MAP3K130.77969120
32ILK0.77951063
33PRKAA10.75398664
34PRKAA20.75086045
35ERBB30.71127622
36EPHB10.68094240
37EEF2K0.65647359
38TAOK20.65185784
39SIK10.64089809
40CAMK2G0.59647218
41MAP3K100.59248451
42MAPK110.58735145
43CAMK40.56814476
44MAP2K10.56446054
45CDK190.54576247
46ZAK0.53974869
47RIPK10.52574610
48LIMK10.52351768
49PTK60.51082339
50STK240.46874855
51MAP3K110.44086670
52ARAF0.43380078
53SGK30.42714855
54TAOK10.41166446
55CAMK10.40545016
56CAMK2B0.39689621
57ROCK10.39435555
58MAP3K50.36613172
59PRKG10.34131062
60PRKD30.33929264
61ICK0.33363519
62MAPK130.32706186
63ROCK20.30371937
64SGK10.30142864
65PIM20.30029053
66RPS6KA30.29739674
67SGK20.28793352
68DYRK1B0.27422969
69RPS6KB10.27037744
70PRKACB0.26104422
71DDR20.26057316
72MARK20.24326158
73LATS10.23420550
74MAPK70.23303310
75TBK10.22155615
76BMX0.21206260
77MTOR0.20871240
78MAPK40.20271446
79KSR20.20153934
80PKN10.19602172
81LRRK20.19552364
82MAP3K60.19364990
83CDK60.18895297
84PAK40.17811724
85MAP3K10.17608810
86RPS6KB20.17261035
87PDPK10.16902886
88LATS20.16446933
89PRKACA0.16196256
90PAK60.15797015
91DAPK20.15260037
92RAF10.14395206
93MAP3K90.13871154
94PDGFRA0.13640182
95RPS6KC10.13199187
96RPS6KL10.13199187
97SGK2230.12800346
98SGK4940.12800346
99PRPF4B0.12509132
100BRAF0.11984375
101TGFBR20.11805563
102PRKD10.11769945
103RPS6KA20.11394088
104CAMK1G0.11325123
105PTK2B0.11136554
106PDK10.10243684
107FGFR10.09916469
108RPS6KA60.09786080
109CDK140.09727625
110CAMK2D0.08931525
111ERN10.08763557
112TNK20.08312614
113CDK150.07427427
114MAPK100.07083195
115PAK10.06914480
116KSR10.05840912
117CDK11A0.05506567
118RPS6KA10.05486756
119MAPK80.05151396
120CDK180.04438804
121ZAP700.04345068
122CDK80.03635198
123FER0.03319057
124TIE10.02246701
125STK110.01956206
126EPHB20.01587202
127CSNK1D0.01086151
128PRKACG0.01071945
129MAPK90.01026415
130CAMK2A0.00137582

Predicted pathways (KEGG)

RankGene SetZ-score
1* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.58281038
2* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.97177033
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.90027903
4* Dilated cardiomyopathy_Homo sapiens_hsa054143.74159610
5* Cardiac muscle contraction_Homo sapiens_hsa042603.15588125
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.10643911
7Starch and sucrose metabolism_Homo sapiens_hsa005002.96508121
8Glucagon signaling pathway_Homo sapiens_hsa049222.41756986
9Insulin signaling pathway_Homo sapiens_hsa049102.36346992
10Circadian rhythm_Homo sapiens_hsa047102.32644483
11* Oxytocin signaling pathway_Homo sapiens_hsa049212.14478607
12Insulin resistance_Homo sapiens_hsa049312.02349315
13Carbon metabolism_Homo sapiens_hsa012002.00199946
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.99703889
15Propanoate metabolism_Homo sapiens_hsa006401.89996686
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.85363303
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.75096702
18Tight junction_Homo sapiens_hsa045301.71753544
19AMPK signaling pathway_Homo sapiens_hsa041521.71368748
20Viral myocarditis_Homo sapiens_hsa054161.69589595
21Calcium signaling pathway_Homo sapiens_hsa040201.68541437
22Galactose metabolism_Homo sapiens_hsa000521.61484182
23* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61393405
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.58642236
25Focal adhesion_Homo sapiens_hsa045101.56887986
26Biosynthesis of amino acids_Homo sapiens_hsa012301.47642966
27Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.44904174
28Fructose and mannose metabolism_Homo sapiens_hsa000511.43567484
29Parkinsons disease_Homo sapiens_hsa050121.38465748
30Alzheimers disease_Homo sapiens_hsa050101.35646771
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.26650878
32cGMP-PKG signaling pathway_Homo sapiens_hsa040221.23492325
33Arginine and proline metabolism_Homo sapiens_hsa003301.17821289
34Pyruvate metabolism_Homo sapiens_hsa006201.16653141
35Vascular smooth muscle contraction_Homo sapiens_hsa042701.12481072
36Fatty acid degradation_Homo sapiens_hsa000711.11516775
37FoxO signaling pathway_Homo sapiens_hsa040681.10755398
38GnRH signaling pathway_Homo sapiens_hsa049121.08354972
39Central carbon metabolism in cancer_Homo sapiens_hsa052301.03755576
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.01926936
41Longevity regulating pathway - mammal_Homo sapiens_hsa042111.00680588
42Oxidative phosphorylation_Homo sapiens_hsa001900.99500972
43Gastric acid secretion_Homo sapiens_hsa049710.95127471
44HIF-1 signaling pathway_Homo sapiens_hsa040660.94763204
45mTOR signaling pathway_Homo sapiens_hsa041500.93913735
46Pentose phosphate pathway_Homo sapiens_hsa000300.93239344
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.88839527
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.87800346
49Proteoglycans in cancer_Homo sapiens_hsa052050.82898261
50Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81230456
51VEGF signaling pathway_Homo sapiens_hsa043700.80751566
52Regulation of actin cytoskeleton_Homo sapiens_hsa048100.75451077
53ECM-receptor interaction_Homo sapiens_hsa045120.74606865
54Amoebiasis_Homo sapiens_hsa051460.74172848
55Fatty acid metabolism_Homo sapiens_hsa012120.73193750
56* MAPK signaling pathway_Homo sapiens_hsa040100.70509943
57Leukocyte transendothelial migration_Homo sapiens_hsa046700.67079537
58Platelet activation_Homo sapiens_hsa046110.66371486
59Renin secretion_Homo sapiens_hsa049240.65877171
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.64099978
61Adherens junction_Homo sapiens_hsa045200.63437865
62Arginine biosynthesis_Homo sapiens_hsa002200.63037737
63Fatty acid elongation_Homo sapiens_hsa000620.58507263
64Insulin secretion_Homo sapiens_hsa049110.56724161
65Renal cell carcinoma_Homo sapiens_hsa052110.50268626
66Fatty acid biosynthesis_Homo sapiens_hsa000610.49143858
67Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.44732734
68Salivary secretion_Homo sapiens_hsa049700.43644490
69PPAR signaling pathway_Homo sapiens_hsa033200.43563384
70Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43129843
71Huntingtons disease_Homo sapiens_hsa050160.42091438
72Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.41403646
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36836255
74AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.36373859
75Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.36094333
76Amphetamine addiction_Homo sapiens_hsa050310.35548444
77Peroxisome_Homo sapiens_hsa041460.34459734
78Long-term depression_Homo sapiens_hsa047300.33699275
79Lysine degradation_Homo sapiens_hsa003100.33518086
80Tryptophan metabolism_Homo sapiens_hsa003800.31889035
81Cholinergic synapse_Homo sapiens_hsa047250.30683888
82Type II diabetes mellitus_Homo sapiens_hsa049300.27876057
83Chronic myeloid leukemia_Homo sapiens_hsa052200.27066022
84Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26444652
85Histidine metabolism_Homo sapiens_hsa003400.26272129
86cAMP signaling pathway_Homo sapiens_hsa040240.25288893
87Glioma_Homo sapiens_hsa052140.23158493
88beta-Alanine metabolism_Homo sapiens_hsa004100.21868755
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.21647149
90Melanogenesis_Homo sapiens_hsa049160.21158687
91Acute myeloid leukemia_Homo sapiens_hsa052210.20336786
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.20193088
93Sulfur metabolism_Homo sapiens_hsa009200.19717987
94Tyrosine metabolism_Homo sapiens_hsa003500.19026017
95Bladder cancer_Homo sapiens_hsa052190.18995120
96Regulation of autophagy_Homo sapiens_hsa041400.18462990
97Olfactory transduction_Homo sapiens_hsa047400.17402942
98Thyroid cancer_Homo sapiens_hsa052160.15595171
99Gap junction_Homo sapiens_hsa045400.15453590
100Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14985012
101Basal cell carcinoma_Homo sapiens_hsa052170.14957458
102Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.14846521
103Phototransduction_Homo sapiens_hsa047440.14615612
104Dorso-ventral axis formation_Homo sapiens_hsa043200.14405069
105Prolactin signaling pathway_Homo sapiens_hsa049170.13721521
106Purine metabolism_Homo sapiens_hsa002300.12813421
107Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.12371547
108Salmonella infection_Homo sapiens_hsa051320.12293499
109Sulfur relay system_Homo sapiens_hsa041220.12146658
110Carbohydrate digestion and absorption_Homo sapiens_hsa049730.12076764
111Protein digestion and absorption_Homo sapiens_hsa049740.10749505
112Circadian entrainment_Homo sapiens_hsa047130.10243415
113Dopaminergic synapse_Homo sapiens_hsa047280.10016328
114Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.09499203
115Nitrogen metabolism_Homo sapiens_hsa009100.07808869
116Phenylalanine metabolism_Homo sapiens_hsa003600.07774238
117Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.07248212
118Butanoate metabolism_Homo sapiens_hsa006500.07173820
119Pancreatic secretion_Homo sapiens_hsa049720.06738077
120Long-term potentiation_Homo sapiens_hsa047200.06725707
121Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.05843468
122ErbB signaling pathway_Homo sapiens_hsa040120.05833002
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.05419659

Most similar genes based on co-expression Upload to Enrichr

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