SGCG

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: This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)8.62593786
2muscle filament sliding (GO:0030049)8.09253319
3actin-myosin filament sliding (GO:0033275)8.09253319
4negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.85405102
5cardiac myofibril assembly (GO:0055003)7.61748438
6myofibril assembly (GO:0030239)7.32847271
7regulation of skeletal muscle contraction (GO:0014819)6.99480430
8positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.94580780
9negative regulation of potassium ion transmembrane transport (GO:1901380)6.93180081
10actin-mediated cell contraction (GO:0070252)6.66998012
11plasma membrane repair (GO:0001778)6.62685318
12tricarboxylic acid cycle (GO:0006099)6.60246012
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.58085943
14sarcoplasmic reticulum calcium ion transport (GO:0070296)6.49009599
15cardiac muscle contraction (GO:0060048)6.23706236
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.11882849
17regulation of relaxation of muscle (GO:1901077)6.06649870
18regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.81494349
19cardiac muscle cell development (GO:0055013)5.69454699
20regulation of actin filament-based movement (GO:1903115)5.67556195
21striated muscle contraction (GO:0006941)5.60150253
22carnitine shuttle (GO:0006853)5.59352167
23regulation of cell communication by electrical coupling (GO:0010649)5.49437932
24actomyosin structure organization (GO:0031032)5.48227919
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.46738765
26regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.38621347
27regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.37772420
28cardiac cell development (GO:0055006)5.33474395
29regulation of acyl-CoA biosynthetic process (GO:0050812)5.29460965
30skeletal muscle contraction (GO:0003009)5.20233160
31regulation of sarcomere organization (GO:0060297)5.14133067
32ventricular cardiac muscle cell action potential (GO:0086005)5.11219792
33response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.00496345
34actin filament-based movement (GO:0030048)4.98394457
35skeletal muscle fiber development (GO:0048741)4.95436330
36fatty acid transmembrane transport (GO:1902001)4.89904290
37cardiac muscle hypertrophy (GO:0003300)4.87727919
38cardiac muscle tissue morphogenesis (GO:0055008)4.84201259
39regulation of cofactor metabolic process (GO:0051193)4.81488722
40regulation of coenzyme metabolic process (GO:0051196)4.81488722
41adult heart development (GO:0007512)4.78604034
42bundle of His cell to Purkinje myocyte communication (GO:0086069)4.76111453
43regulation of striated muscle contraction (GO:0006942)4.75410581
44heart trabecula formation (GO:0060347)4.69816455
45striated muscle hypertrophy (GO:0014897)4.69471655
46heart contraction (GO:0060047)4.66416527
47heart process (GO:0003015)4.66416527
48creatine metabolic process (GO:0006600)4.64908273
49myotube cell development (GO:0014904)4.59052085
50regulation of membrane repolarization (GO:0060306)4.55690491
51mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.50019611
52mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.46491380
53ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.45465644
54muscle tissue morphogenesis (GO:0060415)4.44734842
55glucan biosynthetic process (GO:0009250)4.29004798
56glycogen biosynthetic process (GO:0005978)4.29004798
57respiratory electron transport chain (GO:0022904)4.27189104
58muscle fiber development (GO:0048747)4.25850358
59skeletal muscle adaptation (GO:0043501)4.17253860
60carnitine transmembrane transport (GO:1902603)4.16795530
61regulation of sequestering of triglyceride (GO:0010889)4.16593579
62ATP synthesis coupled proton transport (GO:0015986)4.16165669
63energy coupled proton transport, down electrochemical gradient (GO:0015985)4.16165669
64glucan catabolic process (GO:0009251)4.14689993
65muscle hypertrophy (GO:0014896)4.14271426
66electron transport chain (GO:0022900)4.14040747
67skeletal muscle tissue development (GO:0007519)4.11135019
68NADH metabolic process (GO:0006734)4.08601752
69oxidative phosphorylation (GO:0006119)4.02328755
70regulation of the force of heart contraction (GO:0002026)4.01992464
71muscle contraction (GO:0006936)4.01112204
722-oxoglutarate metabolic process (GO:0006103)4.00705510
73cell communication involved in cardiac conduction (GO:0086065)3.97676907
74muscle cell cellular homeostasis (GO:0046716)3.94853082
75regulation of sulfur metabolic process (GO:0042762)3.92078067
76response to inactivity (GO:0014854)3.90589475
77cellular polysaccharide catabolic process (GO:0044247)3.88600601
78positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.86167587
79cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.82035777
80carnitine transport (GO:0015879)3.79397303
81amino-acid betaine transport (GO:0015838)3.79397303
82striated muscle adaptation (GO:0014888)3.79381549
83negative regulation of potassium ion transport (GO:0043267)3.77594189
84regulation of cardiac muscle cell contraction (GO:0086004)3.75621914
85regulation of cardiac muscle contraction (GO:0055117)3.73280841
86muscle system process (GO:0003012)3.71900847
87regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.70870679
88striated muscle cell development (GO:0055002)3.70172116
89cardiac muscle adaptation (GO:0014887)3.66480466
90cardiac muscle hypertrophy in response to stress (GO:0014898)3.66480466
91muscle hypertrophy in response to stress (GO:0003299)3.66480466
92negative regulation of protein localization to cell surface (GO:2000009)3.66255633
93cardiac muscle cell action potential involved in contraction (GO:0086002)3.65038293
94cardiac muscle cell action potential (GO:0086001)3.62775880
95muscle adaptation (GO:0043500)3.60646266
96regulation of calcium ion transmembrane transporter activity (GO:1901019)3.58867399
97regulation of calcium ion transmembrane transport (GO:1903169)3.58867399
98negative regulation of calcium ion transmembrane transport (GO:1903170)3.56699192
99negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.56699192
100striated muscle atrophy (GO:0014891)3.56047067
101regulation of heart rate (GO:0002027)3.55566436
102regulation of ATPase activity (GO:0043462)3.54284582
103regulation of ATP catabolic process (GO:1903289)3.54284582
104response to muscle activity (GO:0014850)3.52628471
105muscle atrophy (GO:0014889)3.51888719
106skeletal muscle tissue regeneration (GO:0043403)3.51658849
107muscle cell fate commitment (GO:0042693)3.50644856
108polysaccharide catabolic process (GO:0000272)3.48992244
109regulation of fatty acid oxidation (GO:0046320)3.47965343
110negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.47829524
111succinate metabolic process (GO:0006105)3.45539473
112fatty acid beta-oxidation (GO:0006635)3.44767252
113pyrimidine ribonucleoside catabolic process (GO:0046133)3.42031346
114positive regulation of cation channel activity (GO:2001259)3.41976287
115relaxation of cardiac muscle (GO:0055119)3.41785385
116regulation of muscle system process (GO:0090257)3.39621658
117glycogen metabolic process (GO:0005977)3.37438932
118regulation of muscle contraction (GO:0006937)3.36893963
119* muscle organ development (GO:0007517)3.35553780
120* muscle structure development (GO:0061061)3.35194968
121glycogen catabolic process (GO:0005980)3.34825864
122positive regulation of myotube differentiation (GO:0010831)3.34405197
123membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.34292840
124cellular glucan metabolic process (GO:0006073)3.29871466
125glucan metabolic process (GO:0044042)3.29871466
126gluconeogenesis (GO:0006094)3.28828964
127regulation of heart contraction (GO:0008016)3.27912730
128cell communication by electrical coupling (GO:0010644)3.27911581
129muscle cell development (GO:0055001)3.24386729
130regulation of myoblast differentiation (GO:0045661)3.17694424

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.59970642
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.58978947
3* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.42234887
4EP300_21415370_ChIP-Seq_HL-1_Mouse4.35766954
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.27087180
6TBX20_22080862_ChIP-Seq_HEART_Mouse3.99120426
7TBX20_22328084_ChIP-Seq_HEART_Mouse3.99120426
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.32809277
9ZNF263_19887448_ChIP-Seq_K562_Human3.21951036
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.17809741
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.91002207
12MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.90081451
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.68928283
14BP1_19119308_ChIP-ChIP_Hs578T_Human2.60504000
15GATA4_21415370_ChIP-Seq_HL-1_Mouse2.25463672
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.14358296
17PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.09821056
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.03254649
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.00199005
20CLOCK_20551151_ChIP-Seq_293T_Human1.97933042
21NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.86577151
22EZH2_22144423_ChIP-Seq_EOC_Human1.81007289
23PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.78273340
24ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.73042124
25EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.72342856
26* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.68332339
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.64096331
28RBPJ_22232070_ChIP-Seq_NCS_Mouse1.60028571
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.57675195
30PPARA_22158963_ChIP-Seq_LIVER_Mouse1.48684312
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47074796
32NFIB_24661679_ChIP-Seq_LUNG_Mouse1.41918080
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.38319685
34NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.37829927
35LXR_22158963_ChIP-Seq_LIVER_Mouse1.35711493
36GATA1_22025678_ChIP-Seq_K562_Human1.35246404
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.34340642
38BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.33803337
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.31556649
40PPAR_26484153_Chip-Seq_NCI-H1993_Human1.25089525
41TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22829775
42CTCF_27219007_Chip-Seq_Bcells_Human1.22559290
43KDM2B_26808549_Chip-Seq_SUP-B15_Human1.21327179
44ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.18618903
45EZH2_27294783_Chip-Seq_ESCs_Mouse1.17892371
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.17603704
47STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.17240171
48RXR_22158963_ChIP-Seq_LIVER_Mouse1.16500161
49TRIM28_21343339_ChIP-Seq_HEK293_Human1.13135755
50* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09312591
51TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08841159
52ZNF274_21170338_ChIP-Seq_K562_Hela1.08617333
53PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.08247071
54STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07339004
55PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.07058021
56SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06336633
57DROSHA_22980978_ChIP-Seq_HELA_Human1.06215419
58KDM2B_26808549_Chip-Seq_DND41_Human1.06038865
59* TP63_22573176_ChIP-Seq_HFKS_Human1.02167901
60GATA1_19941826_ChIP-Seq_K562_Human1.00834797
61STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00629930
62SMC3_22415368_ChIP-Seq_MEFs_Mouse0.99279270
63CBX2_27304074_Chip-Seq_ESCs_Mouse0.98439623
64RARB_27405468_Chip-Seq_BRAIN_Mouse0.98142552
65ATF3_27146783_Chip-Seq_COLON_Human0.97251157
66GATA2_21666600_ChIP-Seq_HMVEC_Human0.96983514
67RACK7_27058665_Chip-Seq_MCF-7_Human0.95533335
68FOXH1_21741376_ChIP-Seq_ESCs_Human0.94590559
69RUNX1_27514584_Chip-Seq_MCF-7_Human0.94097190
70LXR_22292898_ChIP-Seq_THP-1_Human0.93483914
71CJUN_26792858_Chip-Seq_BT549_Human0.93214342
72ERG_21242973_ChIP-ChIP_JURKAT_Human0.93007373
73MTF2_20144788_ChIP-Seq_MESCs_Mouse0.92958582
74RNF2_18974828_ChIP-Seq_MESCs_Mouse0.92240017
75EZH2_18974828_ChIP-Seq_MESCs_Mouse0.92240017
76TP53_20018659_ChIP-ChIP_R1E_Mouse0.92036434
77SPI1_20517297_ChIP-Seq_HL60_Human0.91936113
78KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91212784
79OCT4_20526341_ChIP-Seq_ESCs_Human0.91133926
80MYC_27129775_Chip-Seq_CORNEA_Mouse0.90550985
81NR3C1_23031785_ChIP-Seq_PC12_Mouse0.90515244
82CTCF_21964334_ChIP-Seq_BJAB-B_Human0.89957116
83ELK3_25401928_ChIP-Seq_HUVEC_Human0.89280639
84SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.88942896
85NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.88609726
86P68_20966046_ChIP-Seq_HELA_Human0.88115417
87AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87519623
88ER_23166858_ChIP-Seq_MCF-7_Human0.87110682
89ISL1_27105846_Chip-Seq_CPCs_Mouse0.86882928
90ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.86009491
91PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.85444050
92SOX9_24532713_ChIP-Seq_HFSC_Mouse0.84618111
93CTCF_21964334_Chip-Seq_Bcells_Human0.84289535
94SMC1_22415368_ChIP-Seq_MEFs_Mouse0.84076270
95ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83425938
96CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83333208
97ESR1_21235772_ChIP-Seq_MCF-7_Human0.82732507
98PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.82313810
99EZH2_27304074_Chip-Seq_ESCs_Mouse0.81585221
100GATA2_19941826_ChIP-Seq_K562_Human0.81548749
101SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.81209507
102FOXA2_19822575_ChIP-Seq_HepG2_Human0.81106524
103* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80450397
104ZFP281_18757296_ChIP-ChIP_E14_Mouse0.78617642
105EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.78587923
106SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78287231
107RAD21_21589869_ChIP-Seq_MESCs_Mouse0.78083451
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.77678618
109MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77500768
110UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.75813561
111HTT_18923047_ChIP-ChIP_STHdh_Human0.74869595
112AR_21572438_ChIP-Seq_LNCaP_Human0.74347053
113JARID2_20075857_ChIP-Seq_MESCs_Mouse0.74163195
114DNAJC2_21179169_ChIP-ChIP_NT2_Human0.73842402
115WT1_25993318_ChIP-Seq_PODOCYTE_Human0.73643449
116P63_26484246_Chip-Seq_KERATINOCYTES_Human0.73558504
117GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73013418
118YY1_22570637_ChIP-Seq_MALME-3M_Human0.72685358
119SMAD3_21741376_ChIP-Seq_HESCs_Human0.72438030
120BCL6_27268052_Chip-Seq_Bcells_Human0.71279446
121LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.70341929
122NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.70323747
123NRF2_20460467_ChIP-Seq_MEFs_Mouse0.70323747
124WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.70074827
125SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.69920183
126SUZ12_27294783_Chip-Seq_NPCs_Mouse0.69275242
127SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.68949594
128CRX_20693478_ChIP-Seq_RETINA_Mouse0.68847776
129SA1_27219007_Chip-Seq_Bcells_Human0.68636949
130FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.68308259
131GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.68162896
132HIF1A_21447827_ChIP-Seq_MCF-7_Human0.67903827
133TDRD3_21172665_ChIP-Seq_MCF-7_Human0.67403712
134TP53_23651856_ChIP-Seq_MEFs_Mouse0.67151528
135SMAD4_21741376_ChIP-Seq_HESCs_Human0.67127327

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.45407910
2MP0003646_muscle_fatigue6.07170847
3MP0000751_myopathy5.58777836
4MP0004084_abnormal_cardiac_muscle5.13928189
5MP0004215_abnormal_myocardial_fiber4.38516247
6MP0004036_abnormal_muscle_relaxation4.30606272
7* MP0000749_muscle_degeneration4.14234481
8MP0005330_cardiomyopathy3.75984415
9MP0004145_abnormal_muscle_electrophysio3.42706623
10* MP0004087_abnormal_muscle_fiber3.25962190
11MP0004130_abnormal_muscle_cell3.01457700
12MP0002972_abnormal_cardiac_muscle2.93404965
13* MP0002106_abnormal_muscle_physiology2.89836711
14MP0005620_abnormal_muscle_contractility2.88498548
15MP0003137_abnormal_impulse_conducting2.58939317
16MP0008775_abnormal_heart_ventricle2.57505387
17MP0004484_altered_response_of2.55691767
18* MP0000750_abnormal_muscle_regeneration2.55437634
19* MP0002269_muscular_atrophy2.45821939
20MP0010630_abnormal_cardiac_muscle2.43783017
21MP0001544_abnormal_cardiovascular_syste2.42808989
22MP0005385_cardiovascular_system_phenoty2.42808989
23* MP0000759_abnormal_skeletal_muscle2.42220764
24* MP0005369_muscle_phenotype2.36504373
25* MP0000747_muscle_weakness2.25399300
26MP0006138_congestive_heart_failure2.14490158
27MP0003828_pulmonary_edema1.98487709
28MP0006036_abnormal_mitochondrial_physio1.98382684
29MP0004233_abnormal_muscle_weight1.97545079
30MP0003221_abnormal_cardiomyocyte_apopto1.90219160
31MP0004085_abnormal_heartbeat1.81121879
32MP0005666_abnormal_adipose_tissue1.70673540
33MP0002332_abnormal_exercise_endurance1.70665420
34MP0003950_abnormal_plasma_membrane1.62333710
35MP0004510_myositis1.52913150
36MP0005670_abnormal_white_adipose1.48829889
37MP0002127_abnormal_cardiovascular_syste1.43950245
38MP0004185_abnormal_adipocyte_glucose1.34426590
39MP0004270_analgesia1.24178699
40MP0005375_adipose_tissue_phenotype1.18162543
41MP0000343_altered_response_to1.15898375
42MP0000733_abnormal_muscle_development1.11805246
43MP0002234_abnormal_pharynx_morphology1.10546235
44MP0006035_abnormal_mitochondrial_morpho1.08831492
45MP0003567_abnormal_fetal_cardiomyocyte1.07468594
46MP0001661_extended_life_span1.06071768
47* MP0000266_abnormal_heart_morphology1.03764151
48MP0005165_increased_susceptibility_to1.01269050
49MP0002971_abnormal_brown_adipose0.95155223
50MP0005266_abnormal_metabolism0.94906686
51* MP0002108_abnormal_muscle_morphology0.87829133
52MP0003279_aneurysm0.86757487
53MP0010368_abnormal_lymphatic_system0.83285957
54MP0000013_abnormal_adipose_tissue0.83149529
55MP0000230_abnormal_systemic_arterial0.75275360
56MP0000003_abnormal_adipose_tissue0.73415594
57MP0004043_abnormal_pH_regulation0.72303189
58MP0002128_abnormal_blood_circulation0.70336560
59MP0003705_abnormal_hypodermis_morpholog0.70107096
60MP0005623_abnormal_meninges_morphology0.69236329
61MP0003806_abnormal_nucleotide_metabolis0.66314999
62MP0004147_increased_porphyrin_level0.62561666
63MP0003566_abnormal_cell_adhesion0.59776645
64MP0001879_abnormal_lymphatic_vessel0.59697209
65MP0008438_abnormal_cutaneous_collagen0.58333202
66MP0002078_abnormal_glucose_homeostasis0.57666730
67MP0002909_abnormal_adrenal_gland0.57275095
68MP0005275_abnormal_skin_tensile0.54988185
69MP0005503_abnormal_tendon_morphology0.53046612
70MP0010030_abnormal_orbit_morphology0.48489508
71MP0000767_abnormal_smooth_muscle0.48298256
72MP0008961_abnormal_basal_metabolism0.48148601
73MP0005334_abnormal_fat_pad0.44167754
74MP0005535_abnormal_body_temperature0.43614697
75* MP0005319_abnormal_enzyme/_coenzyme0.41935436
76MP0000372_irregular_coat_pigmentation0.41488100
77MP0005187_abnormal_penis_morphology0.41419307
78MP0005451_abnormal_body_composition0.40722917
79MP0003941_abnormal_skin_development0.40524211
80MP0008569_lethality_at_weaning0.40518831
81MP0004272_abnormal_basement_membrane0.39771796
82MP0002896_abnormal_bone_mineralization0.37110126
83MP0009115_abnormal_fat_cell0.36388319
84MP0002925_abnormal_cardiovascular_devel0.36042929
85MP0002638_abnormal_pupillary_reflex0.35891960
86MP0009672_abnormal_birth_weight0.34991878
87MP0003948_abnormal_gas_homeostasis0.34911119
88MP0002118_abnormal_lipid_homeostasis0.33966554
89MP0003879_abnormal_hair_cell0.32885172
90MP0004134_abnormal_chest_morphology0.32689292
91MP0005167_abnormal_blood-brain_barrier0.31265339
92MP0005423_abnormal_somatic_nervous0.31258079
93MP0005584_abnormal_enzyme/coenzyme_acti0.31118332
94MP0003045_fibrosis0.30591660
95MP0001614_abnormal_blood_vessel0.30287544
96MP0001784_abnormal_fluid_regulation0.28451256
97MP0002114_abnormal_axial_skeleton0.28155257
98MP0005452_abnormal_adipose_tissue0.28076754
99MP0000762_abnormal_tongue_morphology0.27294819
100MP0009780_abnormal_chondrocyte_physiolo0.27038096
101MP0009250_abnormal_appendicular_skeleto0.27006938
102MP0003195_calcinosis0.26315389
103MP0001958_emphysema0.25857793
104MP0002877_abnormal_melanocyte_morpholog0.25712486
105MP0009840_abnormal_foam_cell0.24282557
106MP0009384_cardiac_valve_regurgitation0.23955003
107MP0001727_abnormal_embryo_implantation0.23856862
108MP0003656_abnormal_erythrocyte_physiolo0.23689607
109MP0002970_abnormal_white_adipose0.23567334
110MP0003959_abnormal_lean_body0.23496673
111MP0001853_heart_inflammation0.23058277
112MP0003984_embryonic_growth_retardation0.22980668
113MP0005083_abnormal_biliary_tract0.22728429
114MP0002822_catalepsy0.22472670
115MP0002088_abnormal_embryonic_growth/wei0.22018093
116MP0002734_abnormal_mechanical_nocicepti0.21785791
117MP0005595_abnormal_vascular_smooth0.21577293
118MP0001299_abnormal_eye_distance/0.21202617
119MP0004924_abnormal_behavior0.21161193
120MP0005386_behavior/neurological_phenoty0.21161193
121MP0005376_homeostasis/metabolism_phenot0.21056596
122MP0005332_abnormal_amino_acid0.18727129
123MP0008874_decreased_physiological_sensi0.18404097
124MP0000579_abnormal_nail_morphology0.17468559

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)6.87545976
2Sudden death (HP:0001699)6.84909034
3Calf muscle hypertrophy (HP:0008981)6.72870521
4Muscle hypertrophy of the lower extremities (HP:0008968)6.49177538
5Exercise-induced muscle cramps (HP:0003710)6.48553878
6Ventricular tachycardia (HP:0004756)5.84004290
7Muscle fiber splitting (HP:0003555)5.83419571
8Myoglobinuria (HP:0002913)5.30498407
9Hyporeflexia of lower limbs (HP:0002600)5.20467947
10Muscle fiber inclusion bodies (HP:0100299)4.99072630
11Atrial fibrillation (HP:0005110)4.93389406
12Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.87863802
13* Abnormality of the calf musculature (HP:0001430)4.73054508
14Subaortic stenosis (HP:0001682)4.64984434
15Abnormality of the left ventricular outflow tract (HP:0011103)4.64984434
16Primary atrial arrhythmia (HP:0001692)4.60670892
17EMG: myopathic abnormalities (HP:0003458)4.52754129
18Lipoatrophy (HP:0100578)4.52011420
19Difficulty running (HP:0009046)4.45429367
20Supraventricular tachycardia (HP:0004755)4.45091804
21Centrally nucleated skeletal muscle fibers (HP:0003687)4.44552657
22Supraventricular arrhythmia (HP:0005115)4.35826991
23Increased connective tissue (HP:0009025)4.25778628
24Nemaline bodies (HP:0003798)4.24773823
25Right ventricular cardiomyopathy (HP:0011663)4.20337479
26Type 1 muscle fiber predominance (HP:0003803)4.17395940
27Rhabdomyolysis (HP:0003201)4.14226889
28Bundle branch block (HP:0011710)4.04504885
29Asymmetric septal hypertrophy (HP:0001670)3.99817274
30Syncope (HP:0001279)3.90338430
31Dilated cardiomyopathy (HP:0001644)3.87521593
32Palpitations (HP:0001962)3.85234457
33Myotonia (HP:0002486)3.71099775
34Calcaneovalgus deformity (HP:0001848)3.67309775
35Prolonged QT interval (HP:0001657)3.59133214
36Ventricular arrhythmia (HP:0004308)3.38423636
37Heart block (HP:0012722)3.34189828
38Difficulty climbing stairs (HP:0003551)3.32606352
39Absent phalangeal crease (HP:0006109)3.27352171
40Muscle stiffness (HP:0003552)3.27252038
41Deformed tarsal bones (HP:0008119)3.24339501
42Abnormal atrioventricular conduction (HP:0005150)3.16439191
43Distal arthrogryposis (HP:0005684)3.14354015
44Atrioventricular block (HP:0001678)3.09842223
45Increased variability in muscle fiber diameter (HP:0003557)3.04531956
46Abnormality of skeletal muscle fiber size (HP:0012084)3.04354738
47Abnormal mitochondria in muscle tissue (HP:0008316)2.99890796
48Acute necrotizing encephalopathy (HP:0006965)2.96675924
49Malignant hyperthermia (HP:0002047)2.89374480
50Neck muscle weakness (HP:0000467)2.88776483
51Hepatic necrosis (HP:0002605)2.87060382
52Ventricular fibrillation (HP:0001663)2.86838888
53Areflexia of lower limbs (HP:0002522)2.80463744
54Round ear (HP:0100830)2.75770797
55Distal lower limb muscle weakness (HP:0009053)2.75060395
56Myopathic facies (HP:0002058)2.74913643
57Abnormal finger flexion creases (HP:0006143)2.73305193
58Ketoacidosis (HP:0001993)2.59886517
59Acute encephalopathy (HP:0006846)2.58484661
60Abnormal EKG (HP:0003115)2.56451013
61Left ventricular hypertrophy (HP:0001712)2.55573082
62Rimmed vacuoles (HP:0003805)2.49897620
63Progressive macrocephaly (HP:0004481)2.48701617
64Limb-girdle muscle atrophy (HP:0003797)2.47863769
65Hypoglycemic coma (HP:0001325)2.46642093
66Hepatocellular necrosis (HP:0001404)2.46402481
67Fetal akinesia sequence (HP:0001989)2.44233215
68Weak cry (HP:0001612)2.36615572
69Increased muscle lipid content (HP:0009058)2.36422310
70Slender build (HP:0001533)2.34559810
71Mitochondrial inheritance (HP:0001427)2.32128868
72Cerebral edema (HP:0002181)2.31237224
73Fatigable weakness (HP:0003473)2.28131182
74Abnormality of the neuromuscular junction (HP:0003398)2.28131182
75Abnormality of fatty-acid metabolism (HP:0004359)2.27695271
76Dicarboxylic aciduria (HP:0003215)2.26383698
77Abnormality of dicarboxylic acid metabolism (HP:0010995)2.26383698
78Ulnar deviation of the wrist (HP:0003049)2.26092698
79Exercise intolerance (HP:0003546)2.23579878
80Facial diplegia (HP:0001349)2.23564296
81Spinal rigidity (HP:0003306)2.23553852
82Conjunctival hamartoma (HP:0100780)2.20114030
83Palmoplantar keratoderma (HP:0000982)2.19812167
84Increased CSF lactate (HP:0002490)2.19809011
85Generalized muscle weakness (HP:0003324)2.19259576
86Hypoplastic ischia (HP:0003175)2.17994562
87Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.16096268
88Abnormality of alanine metabolism (HP:0010916)2.16096268
89Hyperalaninemia (HP:0003348)2.16096268
90Mildly elevated creatine phosphokinase (HP:0008180)2.15749705
91Testicular atrophy (HP:0000029)2.15660991
92Muscular dystrophy (HP:0003560)2.14916774
93EMG: neuropathic changes (HP:0003445)2.14679914
94Distal lower limb amyotrophy (HP:0008944)2.14535957
95Abnormality of the shoulder girdle musculature (HP:0001435)2.07675681
96Waddling gait (HP:0002515)2.04621886
97Scapular winging (HP:0003691)2.04252500
98Increased intramyocellular lipid droplets (HP:0012240)2.03484648
99Frequent falls (HP:0002359)2.02735600
100Abnormality of the calcaneus (HP:0008364)2.02676148
101Lactic acidosis (HP:0003128)2.02673240
102Hip contracture (HP:0003273)2.01462832
103Hyperkalemia (HP:0002153)1.98653291
104Proximal amyotrophy (HP:0007126)1.98595400
105Respiratory failure (HP:0002878)1.95332436
106Respiratory insufficiency due to muscle weakness (HP:0002747)1.94562496
107Ketosis (HP:0001946)1.94339520
108Ragged-red muscle fibers (HP:0003200)1.93476125
109Pheochromocytoma (HP:0002666)1.93430017
110Progressive muscle weakness (HP:0003323)1.91571369
111Abnormality of the ischium (HP:0003174)1.89488549
112* Gowers sign (HP:0003391)1.88057674
113Lower limb amyotrophy (HP:0007210)1.87039833
114Abnormality of the foot musculature (HP:0001436)1.86789791
115Foot dorsiflexor weakness (HP:0009027)1.84239669
116Popliteal pterygium (HP:0009756)1.82474161
117Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.81186702
118Limb-girdle muscle weakness (HP:0003325)1.79576676
119Bulbar palsy (HP:0001283)1.79347742
120Neoplasm of head and neck (HP:0012288)1.79230656
121Steppage gait (HP:0003376)1.75866763
122Oligomenorrhea (HP:0000876)1.58209328
123Abnormality of the musculature of the pelvis (HP:0001469)1.56447622
124Abnormality of the hip-girdle musculature (HP:0001445)1.56447622
125Metatarsus adductus (HP:0001840)1.55621555
126Type 2 muscle fiber atrophy (HP:0003554)1.54898772
127Shoulder girdle muscle weakness (HP:0003547)1.52429576
128Nonprogressive disorder (HP:0003680)1.48367890
129Muscle fiber atrophy (HP:0100295)1.47103931

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.55688111
2OBSCN5.37562057
3PHKG14.44445922
4PHKG24.44445922
5PDK43.53246859
6PDK33.53246859
7LMTK23.08224660
8TRIB32.92390597
9MYLK2.82899155
10DMPK2.76313175
11PKN22.66098776
12BCKDK2.62462010
13MUSK2.46612851
14NEK12.30450605
15PINK12.25577584
16PDK22.18023572
17PIK3CA2.08378071
18TIE11.74764227
19STK241.63338065
20LIMK11.44759047
21MAP3K71.35844708
22MAP2K31.35505007
23MARK11.35360404
24PIK3CG1.30202650
25GRK71.29844697
26MAPK121.25487956
27NME11.21707524
28EEF2K1.11564822
29PAK31.10093168
30ILK1.09395084
31PRKD11.08406255
32CAMK2D1.07305003
33PRKAA20.92219998
34PRKAA10.91859656
35MAPKAPK30.89578951
36ROCK10.84343293
37TRPM70.82992933
38MOS0.81223569
39INSRR0.77312362
40RIPK10.75549162
41MAP3K50.74910148
42ZAK0.72644796
43MAP3K30.72561257
44FLT30.69925852
45PKN10.66792215
46WNK40.66724743
47CDC42BPA0.66514293
48STK40.65502000
49CAMK2B0.64563692
50NEK90.64201339
51DYRK1B0.64056971
52CAMK40.63802988
53MAPK40.62891674
54PDGFRA0.60180897
55CCNB10.59629470
56EPHB10.58664145
57STK38L0.58382713
58NME20.56629211
59TGFBR20.53166662
60DAPK30.53150620
61ROCK20.51819400
62CAMK2A0.50290975
63RPS6KB20.50154899
64KSR20.48628513
65ERBB30.48269963
66AKT20.48087968
67STK380.47733061
68MAP2K40.47124654
69PRKACB0.46267791
70SIK10.45158144
71WNK10.45112751
72CAMK2G0.44635109
73PDPK10.41138478
74RPS6KC10.40010534
75RPS6KL10.40010534
76CAMK10.39101140
77TESK10.38827485
78KDR0.38273675
79PRKACA0.37038613
80PTK60.36838953
81PTK2B0.36319005
82SCYL20.35376186
83MAP3K60.35044320
84MAP2K60.34728915
85PRKACG0.34422035
86PDK10.34327580
87RPS6KA60.33002344
88ICK0.31369186
89TBK10.28553355
90MAPK110.27446962
91PRKCE0.26617319
92RPS6KB10.25941347
93MAP3K130.25515748
94STK390.25138941
95RPS6KA10.24185929
96RPS6KA20.23206430
97SGK20.22216366
98MAPK100.22037923
99MAP2K20.21821926
100PRKCH0.20833515
101PRKG10.20530949
102ARAF0.20328921
103SGK10.19788509
104MTOR0.19656536
105JAK10.18789313
106LATS20.18710424
107MARK20.18468469
108RPS6KA30.18372439
109MAPK70.17915968
110TAOK20.17418789
111RET0.16929957
112LATS10.16903485
113FER0.16764232
114EPHA30.16742553
115SGK30.15882191
116LRRK20.15490396
117TAOK10.14951768
118PRPF4B0.14400310
119FGFR40.13832429
120MAP3K110.13609636
121MAP2K10.12950880
122MAP3K10.12252490
123EPHB20.11551011
124CAMK1D0.11198330
125PRKG20.09895994
126CAMK1G0.08808543
127MAPK90.08606855
128RAF10.07964456
129PAK60.06124302

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.99241899
22-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.27641157
3Cardiac muscle contraction_Homo sapiens_hsa042604.14087186
4Propanoate metabolism_Homo sapiens_hsa006403.51614219
5* Dilated cardiomyopathy_Homo sapiens_hsa054143.39264597
6* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.38717083
7Parkinsons disease_Homo sapiens_hsa050123.26268010
8Oxidative phosphorylation_Homo sapiens_hsa001903.18308297
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.04640514
10Fatty acid degradation_Homo sapiens_hsa000712.96069285
11Carbon metabolism_Homo sapiens_hsa012002.52616188
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.49803858
13Alzheimers disease_Homo sapiens_hsa050102.46837855
14* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.35282300
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.33026667
16Fatty acid metabolism_Homo sapiens_hsa012122.25983267
17Huntingtons disease_Homo sapiens_hsa050162.01303825
18Pyruvate metabolism_Homo sapiens_hsa006201.84775046
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61899944
20Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.59825475
21Butanoate metabolism_Homo sapiens_hsa006501.44616303
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.31094445
23Fatty acid elongation_Homo sapiens_hsa000621.29420516
24Starch and sucrose metabolism_Homo sapiens_hsa005001.23094300
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.22684510
26PPAR signaling pathway_Homo sapiens_hsa033201.21007799
27Insulin resistance_Homo sapiens_hsa049311.19197553
28Glucagon signaling pathway_Homo sapiens_hsa049221.15258962
29* Viral myocarditis_Homo sapiens_hsa054161.15092333
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.14484675
31Biosynthesis of amino acids_Homo sapiens_hsa012301.12800602
32Insulin signaling pathway_Homo sapiens_hsa049101.06614585
33cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94729815
34AMPK signaling pathway_Homo sapiens_hsa041520.85663495
35Calcium signaling pathway_Homo sapiens_hsa040200.81955963
36beta-Alanine metabolism_Homo sapiens_hsa004100.80941355
37Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79086322
38Oxytocin signaling pathway_Homo sapiens_hsa049210.78547488
39Tryptophan metabolism_Homo sapiens_hsa003800.76880617
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.76040263
41Arginine biosynthesis_Homo sapiens_hsa002200.73706998
42Arginine and proline metabolism_Homo sapiens_hsa003300.72500780
43Focal adhesion_Homo sapiens_hsa045100.71018467
44HIF-1 signaling pathway_Homo sapiens_hsa040660.67255511
45Fatty acid biosynthesis_Homo sapiens_hsa000610.66958405
46Galactose metabolism_Homo sapiens_hsa000520.65275351
47Lysine degradation_Homo sapiens_hsa003100.65257238
48Peroxisome_Homo sapiens_hsa041460.61324606
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.60428669
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.59899983
51Long-term potentiation_Homo sapiens_hsa047200.55428304
52Tight junction_Homo sapiens_hsa045300.54959206
53Type II diabetes mellitus_Homo sapiens_hsa049300.54636554
54Circadian rhythm_Homo sapiens_hsa047100.53959747
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.49841157
56Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48768950
57Fructose and mannose metabolism_Homo sapiens_hsa000510.47893742
58Nitrogen metabolism_Homo sapiens_hsa009100.46762282
59Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46051976
60Phenylalanine metabolism_Homo sapiens_hsa003600.45635870
61Renin secretion_Homo sapiens_hsa049240.43622398
62Gastric acid secretion_Homo sapiens_hsa049710.41111541
63Regulation of autophagy_Homo sapiens_hsa041400.40480816
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38034805
65ECM-receptor interaction_Homo sapiens_hsa045120.37729826
66Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.37648069
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36302757
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36111279
69cAMP signaling pathway_Homo sapiens_hsa040240.32864174
70Salivary secretion_Homo sapiens_hsa049700.32310404
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.30941815
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30129052
73Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.28747982
74Insulin secretion_Homo sapiens_hsa049110.28649234
75Metabolic pathways_Homo sapiens_hsa011000.27477997
76Amoebiasis_Homo sapiens_hsa051460.27047680
77Melanogenesis_Homo sapiens_hsa049160.25895579
78Sulfur relay system_Homo sapiens_hsa041220.25866660
79Fat digestion and absorption_Homo sapiens_hsa049750.25611256
80Adherens junction_Homo sapiens_hsa045200.24832770
81Endometrial cancer_Homo sapiens_hsa052130.24676987
82Amphetamine addiction_Homo sapiens_hsa050310.24298347
83Renal cell carcinoma_Homo sapiens_hsa052110.21432086
84Glioma_Homo sapiens_hsa052140.20660655
85Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.19521509
86Tyrosine metabolism_Homo sapiens_hsa003500.18697921
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.18504006
88mTOR signaling pathway_Homo sapiens_hsa041500.17999407
89GnRH signaling pathway_Homo sapiens_hsa049120.17667001
90Proteoglycans in cancer_Homo sapiens_hsa052050.16709482
91Platelet activation_Homo sapiens_hsa046110.16660307
92Estrogen signaling pathway_Homo sapiens_hsa049150.16624060
93Aldosterone synthesis and secretion_Homo sapiens_hsa049250.16420544
94VEGF signaling pathway_Homo sapiens_hsa043700.15915471
95FoxO signaling pathway_Homo sapiens_hsa040680.15857365
96Leukocyte transendothelial migration_Homo sapiens_hsa046700.15497651
97Long-term depression_Homo sapiens_hsa047300.15066589
98Glycerolipid metabolism_Homo sapiens_hsa005610.15047013
99Histidine metabolism_Homo sapiens_hsa003400.14802933
100Cysteine and methionine metabolism_Homo sapiens_hsa002700.12604990
101Circadian entrainment_Homo sapiens_hsa047130.11591980
102Pancreatic secretion_Homo sapiens_hsa049720.07874265
103Pentose phosphate pathway_Homo sapiens_hsa000300.07375035
104Dorso-ventral axis formation_Homo sapiens_hsa043200.06909128
105Ovarian steroidogenesis_Homo sapiens_hsa049130.06116346
106MAPK signaling pathway_Homo sapiens_hsa040100.06104530
107Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.05661805
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.05603654
109Gap junction_Homo sapiens_hsa045400.04921360
110Bile secretion_Homo sapiens_hsa049760.04853314
111Cholinergic synapse_Homo sapiens_hsa047250.04774161
112Toxoplasmosis_Homo sapiens_hsa051450.02973831
113Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.02536340
114alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.01013103
115Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0216069
116Sulfur metabolism_Homo sapiens_hsa00920-0.0188069

Most similar genes based on co-expression Upload to Enrichr

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