LDB3

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 a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)9.03649586
2actin-myosin filament sliding (GO:0033275)9.03649586
3* sarcomere organization (GO:0045214)8.76038992
4cardiac myofibril assembly (GO:0055003)7.98098645
5negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.82097370
6myofibril assembly (GO:0030239)7.78224923
7regulation of skeletal muscle contraction (GO:0014819)7.64332207
8actin-mediated cell contraction (GO:0070252)7.50827211
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.02813761
10negative regulation of potassium ion transmembrane transport (GO:1901380)6.93836904
11plasma membrane repair (GO:0001778)6.67372702
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.63238325
13sarcoplasmic reticulum calcium ion transport (GO:0070296)6.50881587
14cardiac muscle contraction (GO:0060048)6.47408173
15regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.04129606
16cardiac muscle cell development (GO:0055013)6.00511984
17striated muscle contraction (GO:0006941)5.95975692
18regulation of relaxation of muscle (GO:1901077)5.90881947
19tricarboxylic acid cycle (GO:0006099)5.75773640
20regulation of actin filament-based movement (GO:1903115)5.74534897
21* actomyosin structure organization (GO:0031032)5.70858015
22actin filament-based movement (GO:0030048)5.65374704
23cardiac cell development (GO:0055006)5.63597557
24regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.46650617
25regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.46210377
26skeletal muscle contraction (GO:0003009)5.42575338
27carnitine shuttle (GO:0006853)5.40530710
28cardiac muscle tissue morphogenesis (GO:0055008)5.36867556
29regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.32154166
30regulation of cell communication by electrical coupling (GO:0010649)5.31610878
31adult heart development (GO:0007512)5.29247336
32cardiac muscle hypertrophy (GO:0003300)5.26135095
33regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.21799617
34ventricular cardiac muscle cell action potential (GO:0086005)5.21503112
35regulation of sarcomere organization (GO:0060297)5.10346426
36striated muscle hypertrophy (GO:0014897)5.07410978
37response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.03750201
38regulation of striated muscle contraction (GO:0006942)4.93016996
39muscle tissue morphogenesis (GO:0060415)4.91361923
40ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.82787859
41bundle of His cell to Purkinje myocyte communication (GO:0086069)4.77177963
42regulation of acyl-CoA biosynthetic process (GO:0050812)4.75262408
43heart process (GO:0003015)4.73716966
44heart contraction (GO:0060047)4.73716966
45heart trabecula formation (GO:0060347)4.62663624
46fatty acid transmembrane transport (GO:1902001)4.61982718
47regulation of membrane repolarization (GO:0060306)4.55156010
48muscle hypertrophy (GO:0014896)4.47299400
49creatine metabolic process (GO:0006600)4.36503737
50skeletal muscle adaptation (GO:0043501)4.35493454
51regulation of coenzyme metabolic process (GO:0051196)4.33229112
52regulation of cofactor metabolic process (GO:0051193)4.33229112
53muscle contraction (GO:0006936)4.20334527
54cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.18567071
55response to inactivity (GO:0014854)4.16747877
56regulation of the force of heart contraction (GO:0002026)4.15835047
57cell communication involved in cardiac conduction (GO:0086065)4.10946124
58striated muscle adaptation (GO:0014888)4.01232441
59carnitine transmembrane transport (GO:1902603)3.98909307
60membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.98337683
61striated muscle cell development (GO:0055002)3.93785312
62cardiac muscle hypertrophy in response to stress (GO:0014898)3.92466669
63muscle hypertrophy in response to stress (GO:0003299)3.92466669
64cardiac muscle adaptation (GO:0014887)3.92466669
65skeletal muscle fiber development (GO:0048741)3.92424010
66positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.91970751
67negative regulation of protein localization to cell surface (GO:2000009)3.91164132
68muscle system process (GO:0003012)3.89911778
69cardiac muscle cell action potential (GO:0086001)3.80216071
70cardiac muscle cell action potential involved in contraction (GO:0086002)3.79273767
71mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.77508767
72regulation of cardiac muscle contraction (GO:0055117)3.76573502
73negative regulation of potassium ion transport (GO:0043267)3.76327698
74cardiac chamber formation (GO:0003207)3.75932249
75myotube cell development (GO:0014904)3.74701355
76regulation of cardioblast differentiation (GO:0051890)3.70430009
77regulation of heart rate (GO:0002027)3.66693572
78regulation of ATP catabolic process (GO:1903289)3.64781059
79regulation of ATPase activity (GO:0043462)3.64781059
80negative regulation of calcium ion transmembrane transport (GO:1903170)3.63201327
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.63201327
82amino-acid betaine transport (GO:0015838)3.63163375
83carnitine transport (GO:0015879)3.63163375
84regulation of cardiac muscle cell contraction (GO:0086004)3.61661075
85regulation of muscle system process (GO:0090257)3.61031609
86striated muscle atrophy (GO:0014891)3.57884933
87cell communication by electrical coupling (GO:0010644)3.57637471
88skeletal muscle tissue development (GO:0007519)3.57375942
89regulation of calcium ion transmembrane transport (GO:1903169)3.57058154
90regulation of calcium ion transmembrane transporter activity (GO:1901019)3.57058154
91regulation of sulfur metabolic process (GO:0042762)3.53828041
92response to caffeine (GO:0031000)3.52861590
93response to muscle activity (GO:0014850)3.52841780
94mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.51860937
95muscle fiber development (GO:0048747)3.50313820
96cardiac ventricle formation (GO:0003211)3.50191743
97energy coupled proton transport, down electrochemical gradient (GO:0015985)3.50189129
98ATP synthesis coupled proton transport (GO:0015986)3.50189129
99negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.48814767
100NADH metabolic process (GO:0006734)3.48546926
101regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.46080827
102muscle adaptation (GO:0043500)3.45464123
103glycogen catabolic process (GO:0005980)3.44982847
104muscle cell cellular homeostasis (GO:0046716)3.43912587
105respiratory electron transport chain (GO:0022904)3.43819672
106regulation of muscle contraction (GO:0006937)3.41445238
107relaxation of muscle (GO:0090075)3.40683349
1082-oxoglutarate metabolic process (GO:0006103)3.39923439
109oxidative phosphorylation (GO:0006119)3.39510441
110relaxation of cardiac muscle (GO:0055119)3.39399780
111positive regulation of cation channel activity (GO:2001259)3.39209571
112negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.39165350
113muscle cell development (GO:0055001)3.38065596
114response to epinephrine (GO:0071871)3.37493825
115regulation of heart contraction (GO:0008016)3.36735224
116detection of calcium ion (GO:0005513)3.36188298
117negative regulation of striated muscle cell apoptotic process (GO:0010664)3.36124000
118glycogen biosynthetic process (GO:0005978)3.29104472
119glucan biosynthetic process (GO:0009250)3.29104472
120cellular response to epinephrine stimulus (GO:0071872)3.28766026

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.88785036
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.67455827
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.96297857
4* TBX20_22328084_ChIP-Seq_HEART_Mouse3.89587738
5* TBX20_22080862_ChIP-Seq_HEART_Mouse3.89587738
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.76430894
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.61312981
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.37537989
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.18736922
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.18644619
11ZNF263_19887448_ChIP-Seq_K562_Human2.95524794
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.91229122
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.71621392
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.63681123
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.38506079
16* GATA4_21415370_ChIP-Seq_HL-1_Mouse2.18441527
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.12296312
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.09044203
19EZH2_22144423_ChIP-Seq_EOC_Human1.95378743
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.90232625
21NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.84661138
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.83945096
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.73037434
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.71430520
25NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.68684713
26CLOCK_20551151_ChIP-Seq_293T_Human1.59972615
27PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.58270279
28* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.56761281
29VDR_22108803_ChIP-Seq_LS180_Human1.48979629
30CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.41206168
31ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.39245702
32BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.37223466
33TRIM28_21343339_ChIP-Seq_HEK293_Human1.37032711
34NFIB_24661679_ChIP-Seq_LUNG_Mouse1.34134345
35DROSHA_22980978_ChIP-Seq_HELA_Human1.32511052
36GBX2_23144817_ChIP-Seq_PC3_Human1.31146614
37ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.26030127
38* CTCF_27219007_Chip-Seq_Bcells_Human1.25752135
39TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25093616
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.24033493
41PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22958916
42PPAR_26484153_Chip-Seq_NCI-H1993_Human1.21447794
43BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.20589176
44NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.19746033
45* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19627061
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.15986532
47EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.15791365
48ISL1_27105846_Chip-Seq_CPCs_Mouse1.15734478
49TP63_22573176_ChIP-Seq_HFKS_Human1.10689385
50* KDM2B_26808549_Chip-Seq_DND41_Human1.09696137
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.09301556
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.08504708
53PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.08291741
54ZNF274_21170338_ChIP-Seq_K562_Hela1.06218347
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05266606
56GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.04309900
57SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03908000
58SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03766614
59ESR1_21235772_ChIP-Seq_MCF-7_Human1.03758962
60PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02559055
61GATA1_19941826_ChIP-Seq_K562_Human1.02311594
62LXR_22158963_ChIP-Seq_LIVER_Mouse1.02200528
63CJUN_26792858_Chip-Seq_BT549_Human1.01861461
64GATA2_21666600_ChIP-Seq_HMVEC_Human1.01581988
65HIF1A_21447827_ChIP-Seq_MCF-7_Human1.01093085
66TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00975176
67SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00848957
68RARB_27405468_Chip-Seq_BRAIN_Mouse1.00172504
69RACK7_27058665_Chip-Seq_MCF-7_Human0.99574472
70SMC3_22415368_ChIP-Seq_MEFs_Mouse0.98328819
71NR3C1_23031785_ChIP-Seq_PC12_Mouse0.97944473
72SOX9_24532713_ChIP-Seq_HFSC_Mouse0.97839270
73NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.97825361
74* PPARA_22158963_ChIP-Seq_LIVER_Mouse0.97466374
75RUNX1_27514584_Chip-Seq_MCF-7_Human0.97353391
76SMAD4_21799915_ChIP-Seq_A2780_Human0.96677424
77EZH2_27294783_Chip-Seq_NPCs_Mouse0.95406817
78IGF1R_20145208_ChIP-Seq_DFB_Human0.95294593
79ZFP281_18757296_ChIP-ChIP_E14_Mouse0.95125591
80FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.94994319
81ATF3_27146783_Chip-Seq_COLON_Human0.94603119
82KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.94067092
83JARID2_20075857_ChIP-Seq_MESCs_Mouse0.93110484
84FOXH1_21741376_ChIP-Seq_ESCs_Human0.92844710
85GATA1_22025678_ChIP-Seq_K562_Human0.91985487
86ELK3_25401928_ChIP-Seq_HUVEC_Human0.91897452
87CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91095964
88SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.89794056
89OCT4_20526341_ChIP-Seq_ESCs_Human0.89739507
90LXR_22292898_ChIP-Seq_THP-1_Human0.88552583
91PCGF2_27294783_Chip-Seq_ESCs_Mouse0.88375330
92CRX_20693478_ChIP-Seq_RETINA_Mouse0.88175845
93NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.87143816
94AUTS2_25519132_ChIP-Seq_293T-REX_Human0.86812816
95CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.85923811
96SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.85692144
97SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.85413839
98FOXA2_19822575_ChIP-Seq_HepG2_Human0.84971235
99SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.84968512
100WT1_19549856_ChIP-ChIP_CCG9911_Human0.84307219
101P63_26484246_Chip-Seq_KERATINOCYTES_Human0.83997933
102SMAD3_21741376_ChIP-Seq_HESCs_Human0.83862214
103MYC_27129775_Chip-Seq_CORNEA_Mouse0.83481220
104RNF2_27304074_Chip-Seq_ESCs_Mouse0.83000735
105SMC1_22415368_ChIP-Seq_MEFs_Mouse0.82878548
106HTT_18923047_ChIP-ChIP_STHdh_Human0.82123961
107CTCF_21964334_ChIP-Seq_BJAB-B_Human0.82100874
108UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.81983658
109SOX2_21211035_ChIP-Seq_LN229_Gbm0.81811394
110EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.81478994
111GF1_26923725_Chip-Seq_HPCs_Mouse0.80929320
112P68_20966046_ChIP-Seq_HELA_Human0.80711920
113MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.80216116
114NR3C1_21868756_ChIP-Seq_MCF10A_Human0.80185697
115GATA2_19941826_ChIP-Seq_K562_Human0.80161310
116EZH2_27294783_Chip-Seq_ESCs_Mouse0.80137039
117ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79531701
118WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.78734045
119SMAD4_21741376_ChIP-Seq_HESCs_Human0.78463408
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78278514
121MTF2_20144788_ChIP-Seq_MESCs_Mouse0.78119151
122AR_21572438_ChIP-Seq_LNCaP_Human0.77895811
123TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.77887675
124GATA1_19941827_ChIP-Seq_MEL86_Mouse0.77514917
125CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.77351394
126STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.77198316
127OCT4_21477851_ChIP-Seq_ESCs_Mouse0.77196494
128* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.77176770
129SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.76501661
130CTCF_21964334_Chip-Seq_Bcells_Human0.76249449
131BCAT_22108803_ChIP-Seq_LS180_Human0.76244485
132RNF2_18974828_ChIP-Seq_MESCs_Mouse0.75997322
133EZH2_18974828_ChIP-Seq_MESCs_Mouse0.75997322
134TDRD3_21172665_ChIP-Seq_MCF-7_Human0.75492535
135LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75032209
136* TP53_23651856_ChIP-Seq_MEFs_Mouse0.74840465
137PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.74797278
138LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.74745781
139NRF2_20460467_ChIP-Seq_MEFs_Mouse0.74550156
140PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.74424898
141TBL1_22424771_ChIP-Seq_293T_Human0.73804906
142TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.72398144
143JARID2_20064375_ChIP-Seq_MESCs_Mouse0.72070218

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.30254546
2MP0003646_muscle_fatigue5.71771768
3MP0004084_abnormal_cardiac_muscle5.29760576
4* MP0000751_myopathy4.94180600
5MP0000749_muscle_degeneration4.81083371
6MP0004036_abnormal_muscle_relaxation4.53896872
7MP0004215_abnormal_myocardial_fiber4.31168854
8MP0004145_abnormal_muscle_electrophysio3.87830129
9* MP0005330_cardiomyopathy3.54538448
10* MP0004087_abnormal_muscle_fiber3.34767319
11MP0000750_abnormal_muscle_regeneration3.10498024
12MP0005620_abnormal_muscle_contractility3.05796172
13* MP0002106_abnormal_muscle_physiology3.04864240
14MP0002972_abnormal_cardiac_muscle3.01034622
15MP0004130_abnormal_muscle_cell2.74379535
16MP0008775_abnormal_heart_ventricle2.65588243
17* MP0002269_muscular_atrophy2.53127342
18* MP0005369_muscle_phenotype2.49108591
19* MP0000759_abnormal_skeletal_muscle2.47102674
20* MP0000747_muscle_weakness2.45487783
21* MP0010630_abnormal_cardiac_muscle2.43136478
22* MP0003137_abnormal_impulse_conducting2.42709536
23MP0004484_altered_response_of2.32558969
24* MP0005385_cardiovascular_system_phenoty2.31258582
25* MP0001544_abnormal_cardiovascular_syste2.31258582
26MP0006138_congestive_heart_failure2.14620686
27MP0004233_abnormal_muscle_weight2.03018995
28MP0003828_pulmonary_edema2.02758446
29MP0003221_abnormal_cardiomyocyte_apopto1.91589441
30MP0004085_abnormal_heartbeat1.88238572
31MP0003950_abnormal_plasma_membrane1.80385396
32MP0004510_myositis1.72901324
33MP0006036_abnormal_mitochondrial_physio1.72546044
34MP0002332_abnormal_exercise_endurance1.59908521
35MP0002127_abnormal_cardiovascular_syste1.59890342
36MP0005666_abnormal_adipose_tissue1.41235883
37MP0003567_abnormal_fetal_cardiomyocyte1.27415429
38MP0000733_abnormal_muscle_development1.23485762
39MP0002108_abnormal_muscle_morphology1.22410502
40MP0004185_abnormal_adipocyte_glucose1.15752479
41MP0002234_abnormal_pharynx_morphology1.12866383
42* MP0000266_abnormal_heart_morphology1.07347086
43MP0005670_abnormal_white_adipose1.06480912
44MP0000343_altered_response_to1.01728304
45MP0006035_abnormal_mitochondrial_morpho1.00288357
46MP0001661_extended_life_span0.99665433
47MP0005375_adipose_tissue_phenotype0.98876170
48MP0003279_aneurysm0.91950775
49MP0010368_abnormal_lymphatic_system0.87282799
50MP0005165_increased_susceptibility_to0.86895045
51MP0005266_abnormal_metabolism0.85669558
52MP0003705_abnormal_hypodermis_morpholog0.80680907
53MP0002971_abnormal_brown_adipose0.76557772
54MP0005623_abnormal_meninges_morphology0.75361361
55MP0002128_abnormal_blood_circulation0.73363662
56MP0000230_abnormal_systemic_arterial0.70779792
57MP0003566_abnormal_cell_adhesion0.70745584
58MP0005451_abnormal_body_composition0.70515777
59MP0005275_abnormal_skin_tensile0.68224511
60MP0000013_abnormal_adipose_tissue0.68047963
61MP0003806_abnormal_nucleotide_metabolis0.66838573
62MP0004043_abnormal_pH_regulation0.60096107
63MP0004272_abnormal_basement_membrane0.60069825
64MP0000003_abnormal_adipose_tissue0.59007910
65MP0001879_abnormal_lymphatic_vessel0.54406439
66MP0008438_abnormal_cutaneous_collagen0.54306010
67MP0000767_abnormal_smooth_muscle0.53938574
68MP0004147_increased_porphyrin_level0.52418942
69MP0002822_catalepsy0.49600544
70MP0002078_abnormal_glucose_homeostasis0.45533306
71MP0002925_abnormal_cardiovascular_devel0.44877624
72MP0002638_abnormal_pupillary_reflex0.43098097
73MP0009384_cardiac_valve_regurgitation0.42316884
74MP0008961_abnormal_basal_metabolism0.39994754
75MP0002909_abnormal_adrenal_gland0.39986559
76MP0005319_abnormal_enzyme/_coenzyme0.39813761
77MP0005187_abnormal_penis_morphology0.38528781
78MP0001784_abnormal_fluid_regulation0.37869702
79MP0000372_irregular_coat_pigmentation0.36089677
80* MP0001614_abnormal_blood_vessel0.31330021
81MP0005334_abnormal_fat_pad0.31291689
82MP0001984_abnormal_olfaction0.31059687
83MP0003045_fibrosis0.30678142
84MP0003984_embryonic_growth_retardation0.30060860
85MP0002088_abnormal_embryonic_growth/wei0.29357185
86* MP0003948_abnormal_gas_homeostasis0.29049000
87MP0005167_abnormal_blood-brain_barrier0.28710194
88MP0003879_abnormal_hair_cell0.27154259
89MP0001299_abnormal_eye_distance/0.27082210
90MP0004134_abnormal_chest_morphology0.26535197
91MP0005535_abnormal_body_temperature0.26526963
92MP0009780_abnormal_chondrocyte_physiolo0.26146979
93MP0005503_abnormal_tendon_morphology0.25980669
94MP0004924_abnormal_behavior0.24552409
95MP0005386_behavior/neurological_phenoty0.24552409
96MP0005595_abnormal_vascular_smooth0.23229508
97MP0005452_abnormal_adipose_tissue0.23215981
98MP0009115_abnormal_fat_cell0.22382391
99MP0000762_abnormal_tongue_morphology0.22312964
100MP0000579_abnormal_nail_morphology0.21820627
101MP0005584_abnormal_enzyme/coenzyme_acti0.21113699
102MP0005423_abnormal_somatic_nervous0.19670691
103MP0004142_abnormal_muscle_tone0.19113920
104MP0006276_abnormal_autonomic_nervous0.18768823
105MP0002118_abnormal_lipid_homeostasis0.18736055
106MP0009250_abnormal_appendicular_skeleto0.18533513
107MP0001727_abnormal_embryo_implantation0.18224796
108MP0008569_lethality_at_weaning0.17974144
109MP0002114_abnormal_axial_skeleton0.17328015
110MP0001958_emphysema0.16255076
111MP0003656_abnormal_erythrocyte_physiolo0.16206375
112MP0004270_analgesia0.16136274
113MP0005332_abnormal_amino_acid0.16006218
114MP0003941_abnormal_skin_development0.15853115
115MP0008004_abnormal_stomach_pH0.15839847
116MP0005376_homeostasis/metabolism_phenot0.15791460
117MP0003385_abnormal_body_wall0.15470005
118MP0002896_abnormal_bone_mineralization0.14646177

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.38653077
2Exercise-induced myalgia (HP:0003738)7.17362936
3Exercise-induced muscle cramps (HP:0003710)7.01071233
4Calf muscle hypertrophy (HP:0008981)6.86359241
5Muscle hypertrophy of the lower extremities (HP:0008968)6.70063104
6Ventricular tachycardia (HP:0004756)5.86403508
7Abnormality of the calf musculature (HP:0001430)5.56033310
8Muscle fiber inclusion bodies (HP:0100299)5.53201885
9Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.42932847
10Subaortic stenosis (HP:0001682)5.34757804
11Abnormality of the left ventricular outflow tract (HP:0011103)5.34757804
12Myoglobinuria (HP:0002913)5.14223741
13* Muscle fiber splitting (HP:0003555)5.00002792
14Type 1 muscle fiber predominance (HP:0003803)4.95434910
15Atrial fibrillation (HP:0005110)4.94189506
16Nemaline bodies (HP:0003798)4.73679474
17Primary atrial arrhythmia (HP:0001692)4.61084291
18* Hyporeflexia of lower limbs (HP:0002600)4.60961315
19Difficulty running (HP:0009046)4.51070321
20Supraventricular tachycardia (HP:0004755)4.45001340
21* Lipoatrophy (HP:0100578)4.43826935
22* EMG: myopathic abnormalities (HP:0003458)4.40716730
23Increased connective tissue (HP:0009025)4.38989829
24Right ventricular cardiomyopathy (HP:0011663)4.36735072
25Supraventricular arrhythmia (HP:0005115)4.36531406
26Rhabdomyolysis (HP:0003201)4.06749033
27Asymmetric septal hypertrophy (HP:0001670)4.05085630
28Syncope (HP:0001279)4.03829664
29Dilated cardiomyopathy (HP:0001644)3.92564765
30Myotonia (HP:0002486)3.88041177
31Bundle branch block (HP:0011710)3.76897227
32Prolonged QT interval (HP:0001657)3.75988959
33Distal arthrogryposis (HP:0005684)3.70059352
34Palpitations (HP:0001962)3.69333966
35Difficulty climbing stairs (HP:0003551)3.38374625
36Muscle stiffness (HP:0003552)3.36119697
37Round ear (HP:0100830)3.31302708
38* Ventricular arrhythmia (HP:0004308)3.26169030
39Neck muscle weakness (HP:0000467)3.22290352
40Myopathic facies (HP:0002058)3.20664806
41Heart block (HP:0012722)3.19440463
42Abnormality of skeletal muscle fiber size (HP:0012084)3.09369017
43Ventricular fibrillation (HP:0001663)3.08924546
44Increased variability in muscle fiber diameter (HP:0003557)3.05739111
45Abnormal atrioventricular conduction (HP:0005150)3.02124257
46Atrioventricular block (HP:0001678)3.00871688
47Areflexia of lower limbs (HP:0002522)2.82658305
48Rimmed vacuoles (HP:0003805)2.72558579
49Abnormal EKG (HP:0003115)2.72418385
50Ulnar deviation of the wrist (HP:0003049)2.69213005
51Distal lower limb muscle weakness (HP:0009053)2.68348435
52Abnormal finger flexion creases (HP:0006143)2.60038112
53Mildly elevated creatine phosphokinase (HP:0008180)2.55556511
54Fetal akinesia sequence (HP:0001989)2.37845425
55Generalized muscle weakness (HP:0003324)2.35898657
56Gowers sign (HP:0003391)2.34573846
57Limb-girdle muscle atrophy (HP:0003797)2.34029961
58Hypoplastic ischia (HP:0003175)2.33792275
59Centrally nucleated skeletal muscle fibers (HP:0003687)2.33413590
60Abnormal mitochondria in muscle tissue (HP:0008316)2.33030429
61Muscular dystrophy (HP:0003560)2.30785591
62Acute necrotizing encephalopathy (HP:0006965)2.28082053
63Weak cry (HP:0001612)2.26389130
64Scapular winging (HP:0003691)2.24692497
65Hepatic necrosis (HP:0002605)2.22558171
66* Left ventricular hypertrophy (HP:0001712)2.22199925
67Distal lower limb amyotrophy (HP:0008944)2.22057576
68* Palmoplantar keratoderma (HP:0000982)2.20325500
69Calcaneovalgus deformity (HP:0001848)2.17559946
70Frequent falls (HP:0002359)2.17147134
71Facial diplegia (HP:0001349)2.14413133
72Ketoacidosis (HP:0001993)2.13624176
73Abnormality of the foot musculature (HP:0001436)2.10469376
74Absent phalangeal crease (HP:0006109)2.07580781
75Abnormality of the shoulder girdle musculature (HP:0001435)2.04109362
76Abnormality of the ischium (HP:0003174)2.03251377
77Conjunctival hamartoma (HP:0100780)1.98519170
78Ragged-red muscle fibers (HP:0003200)1.98287938
79Foot dorsiflexor weakness (HP:0009027)1.97345937
80Testicular atrophy (HP:0000029)1.96049971
81Proximal amyotrophy (HP:0007126)1.94986413
82Deformed tarsal bones (HP:0008119)1.94854199
83Acute encephalopathy (HP:0006846)1.94633246
84Exercise intolerance (HP:0003546)1.94488650
85Hepatocellular necrosis (HP:0001404)1.93945643
86Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.93857167
87Waddling gait (HP:0002515)1.93519870
88Hypoglycemic coma (HP:0001325)1.93072858
89Abnormality of the calcaneus (HP:0008364)1.92338671
90Increased muscle lipid content (HP:0009058)1.91464557
91Progressive macrocephaly (HP:0004481)1.87114595
92Spinal rigidity (HP:0003306)1.85583172
93Hip contracture (HP:0003273)1.85510131
94Respiratory insufficiency due to muscle weakness (HP:0002747)1.85359443
95Malignant hyperthermia (HP:0002047)1.83571049
96Limb-girdle muscle weakness (HP:0003325)1.83302734
97Hyperkalemia (HP:0002153)1.82216308
98Mitochondrial inheritance (HP:0001427)1.81731092
99Fatigable weakness (HP:0003473)1.81245382
100Abnormality of the neuromuscular junction (HP:0003398)1.81245382
101Steppage gait (HP:0003376)1.78694727
102Slender build (HP:0001533)1.76944090
103* EMG: neuropathic changes (HP:0003445)1.76801988
104Dicarboxylic aciduria (HP:0003215)1.75320061
105Abnormality of dicarboxylic acid metabolism (HP:0010995)1.75320061
106Bulbar palsy (HP:0001283)1.74058296
107Lower limb amyotrophy (HP:0007210)1.73610598
108Increased CSF lactate (HP:0002490)1.73085015
109Cerebral edema (HP:0002181)1.72452245
110Abnormality of fatty-acid metabolism (HP:0004359)1.71844670
111Popliteal pterygium (HP:0009756)1.70607715
112Hypoplastic heart (HP:0001961)1.67577204
113Limited hip movement (HP:0008800)1.65165906
114Aplasia of the musculature (HP:0100854)1.57011593
115Increased intramyocellular lipid droplets (HP:0012240)1.54953546
116Type 2 muscle fiber atrophy (HP:0003554)1.51226933
117Metatarsus adductus (HP:0001840)1.48127114
118Dysmetric saccades (HP:0000641)1.37273709
119* Sudden cardiac death (HP:0001645)1.37088822

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.57408162
2TTN6.10667788
3PHKG24.57113661
4PHKG14.57113661
5DMPK3.08902930
6PDK33.03290071
7PDK43.03290071
8MYLK2.95458535
9LMTK22.81033177
10PKN22.64660135
11TRIB32.54475905
12NEK12.31197575
13PIK3CA2.30844578
14MUSK2.26265990
15STK242.01746430
16BCKDK1.96196497
17PINK11.93354577
18PDK21.84850932
19TIE11.70455465
20NME11.54044038
21PIK3CG1.53543191
22MARK11.47947806
23MAP3K71.45800580
24MAP2K31.36719933
25MAPK121.25003487
26ILK1.24583082
27ZAK1.16397369
28PRKD11.07148999
29CAMK2D1.06805963
30PAK31.06349711
31TRPM70.94181427
32MAPKAPK30.93296061
33GRK70.92871604
34ROCK10.91310601
35PRKAA20.90774979
36PRKAA10.88765537
37CDC42BPA0.88390733
38EEF2K0.85724720
39INSRR0.83383839
40RIPK10.83136441
41MAP3K50.80563524
42WNK40.77900233
43MAP3K30.71433956
44PKN10.70480409
45STK38L0.68807549
46CCNB10.66208108
47EPHB10.65765894
48FLT30.64966699
49MAPK40.62623574
50STK40.61387214
51DAPK30.61116084
52PDGFRA0.59171972
53CAMK2B0.56984844
54MOS0.56052848
55WNK10.54804632
56ROCK20.54655897
57ERBB30.54532878
58EPHA30.52274268
59MAP2K40.51671906
60CAMK40.50276610
61NEK90.49801770
62DYRK1B0.49315354
63PTK2B0.49085361
64CAMK2A0.48263987
65MAP3K60.47213873
66AKT20.46752988
67PRKACB0.46655442
68CAMK2G0.45439291
69SIK10.44732627
70STK380.44420870
71ICK0.42627542
72STK390.41975452
73TGFBR20.40991391
74PTK60.39886304
75CAMK10.39343308
76MAP2K60.39191486
77KSR20.38692717
78KDR0.36901338
79PRKACA0.36050448
80SGK20.32285522
81RPS6KL10.32048695
82RPS6KC10.32048695
83PDPK10.31614076
84LIMK10.30425051
85PRKACG0.29087371
86LATS10.28179060
87PRKG10.26161983
88MAPK100.25647700
89MAPK110.25135912
90RPS6KA60.25034097
91PDK10.24919503
92PRKCE0.24225870
93LATS20.22132189
94FER0.21290761
95EPHB20.20898952
96UHMK10.20749168
97MTOR0.20062512
98MAP3K100.19940672
99TAOK10.19827147
100SGK10.19443311
101PRKD30.19172660
102MAPK70.18415763
103STK110.18386846
104MARK20.18107086
105PRKCH0.17878601
106RPS6KA30.17587513
107RPS6KA10.17323560
108RET0.15736111
109RPS6KB20.15275771
110SGK4940.15236782
111SGK2230.15236782
112MAP3K110.15077510
113NLK0.14187280
114MAP3K130.14144748
115PRKG20.13514538
116PAK60.12956131
117MAP3K10.12475143
118SGK30.11340730
119DDR20.10169040
120LRRK20.09526618
121RPS6KB10.09099571
122MAPK130.07900597
123CDK50.07097835
124MAP2K10.06593881
125RPS6KA20.06190762

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.60889623
2Cardiac muscle contraction_Homo sapiens_hsa042604.48023733
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.15973696
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.08385765
5Dilated cardiomyopathy_Homo sapiens_hsa054144.06843607
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.98241219
7Propanoate metabolism_Homo sapiens_hsa006402.92352111
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.89463906
9Parkinsons disease_Homo sapiens_hsa050122.88471838
10Oxidative phosphorylation_Homo sapiens_hsa001902.75353924
11Fatty acid degradation_Homo sapiens_hsa000712.50352689
12Carbon metabolism_Homo sapiens_hsa012002.35599671
13Alzheimers disease_Homo sapiens_hsa050102.19907420
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.00206062
15Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.96329280
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.94629103
17Fatty acid metabolism_Homo sapiens_hsa012121.89553992
18Viral myocarditis_Homo sapiens_hsa054161.81256713
19Huntingtons disease_Homo sapiens_hsa050161.70964432
20Pyruvate metabolism_Homo sapiens_hsa006201.65080019
21Starch and sucrose metabolism_Homo sapiens_hsa005001.42019860
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.39554456
23Glucagon signaling pathway_Homo sapiens_hsa049221.29576351
24Insulin resistance_Homo sapiens_hsa049311.29459321
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.28043946
26cGMP-PKG signaling pathway_Homo sapiens_hsa040221.19218366
27Insulin signaling pathway_Homo sapiens_hsa049101.17519203
28Biosynthesis of amino acids_Homo sapiens_hsa012301.14762827
29Fatty acid elongation_Homo sapiens_hsa000621.12849318
30Adipocytokine signaling pathway_Homo sapiens_hsa049201.11545764
31Butanoate metabolism_Homo sapiens_hsa006501.07847965
32Oxytocin signaling pathway_Homo sapiens_hsa049211.03576634
33Calcium signaling pathway_Homo sapiens_hsa040200.97785852
34Tight junction_Homo sapiens_hsa045300.93683128
35PPAR signaling pathway_Homo sapiens_hsa033200.92644271
36Focal adhesion_Homo sapiens_hsa045100.92256488
37AMPK signaling pathway_Homo sapiens_hsa041520.89471301
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.88235667
39Vascular smooth muscle contraction_Homo sapiens_hsa042700.81948895
40Galactose metabolism_Homo sapiens_hsa000520.81824639
41Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.81123632
42HIF-1 signaling pathway_Homo sapiens_hsa040660.75639932
43Arginine and proline metabolism_Homo sapiens_hsa003300.71461279
44Circadian rhythm_Homo sapiens_hsa047100.65949365
45Arginine biosynthesis_Homo sapiens_hsa002200.65849219
46Fructose and mannose metabolism_Homo sapiens_hsa000510.62694803
47Type II diabetes mellitus_Homo sapiens_hsa049300.62319674
48beta-Alanine metabolism_Homo sapiens_hsa004100.61730376
49Lysine degradation_Homo sapiens_hsa003100.61444539
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.61272037
51Long-term potentiation_Homo sapiens_hsa047200.60582992
52Central carbon metabolism in cancer_Homo sapiens_hsa052300.59207307
53Gastric acid secretion_Homo sapiens_hsa049710.58260647
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56672751
55Tryptophan metabolism_Homo sapiens_hsa003800.55749348
56Renin secretion_Homo sapiens_hsa049240.55526725
57ECM-receptor interaction_Homo sapiens_hsa045120.53500811
58Fatty acid biosynthesis_Homo sapiens_hsa000610.53149256
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51650179
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51036306
61Adherens junction_Homo sapiens_hsa045200.50628584
62Amphetamine addiction_Homo sapiens_hsa050310.48084465
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45556199
64Insulin secretion_Homo sapiens_hsa049110.44735448
65Amoebiasis_Homo sapiens_hsa051460.41311857
66cAMP signaling pathway_Homo sapiens_hsa040240.40848119
67Phenylalanine metabolism_Homo sapiens_hsa003600.39854186
68Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37778256
69Nitrogen metabolism_Homo sapiens_hsa009100.36250817
70Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34816491
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34543499
72Leukocyte transendothelial migration_Homo sapiens_hsa046700.34536306
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33902993
74Melanogenesis_Homo sapiens_hsa049160.33398906
75GnRH signaling pathway_Homo sapiens_hsa049120.33187483
76Peroxisome_Homo sapiens_hsa041460.31513642
77Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29474914
78Circadian entrainment_Homo sapiens_hsa047130.29473117
79Proteoglycans in cancer_Homo sapiens_hsa052050.29311875
80GABAergic synapse_Homo sapiens_hsa047270.29296383
81Platelet activation_Homo sapiens_hsa046110.27215706
82Renal cell carcinoma_Homo sapiens_hsa052110.26864867
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26699923
84Regulation of autophagy_Homo sapiens_hsa041400.25022121
85VEGF signaling pathway_Homo sapiens_hsa043700.24987846
86mTOR signaling pathway_Homo sapiens_hsa041500.23980182
87Olfactory transduction_Homo sapiens_hsa047400.22052806
88Morphine addiction_Homo sapiens_hsa050320.20640996
89FoxO signaling pathway_Homo sapiens_hsa040680.20529876
90Fat digestion and absorption_Homo sapiens_hsa049750.20055688
91Dopaminergic synapse_Homo sapiens_hsa047280.18716158
92Metabolic pathways_Homo sapiens_hsa011000.17088206
93Dorso-ventral axis formation_Homo sapiens_hsa043200.16260920
94Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.16111572
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.15903496
96Pancreatic secretion_Homo sapiens_hsa049720.15032212
97Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.14822644
98MAPK signaling pathway_Homo sapiens_hsa040100.14701725
99Cholinergic synapse_Homo sapiens_hsa047250.13851070
100Histidine metabolism_Homo sapiens_hsa003400.13274159
101Ovarian steroidogenesis_Homo sapiens_hsa049130.12926643
102Gap junction_Homo sapiens_hsa045400.12343229
103Pentose phosphate pathway_Homo sapiens_hsa000300.11008377
104Taste transduction_Homo sapiens_hsa047420.09031298
105Estrogen signaling pathway_Homo sapiens_hsa049150.08886159
106Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.08829191
107Tyrosine metabolism_Homo sapiens_hsa003500.08330278
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.08054887
109Bile secretion_Homo sapiens_hsa049760.07758574
110Cysteine and methionine metabolism_Homo sapiens_hsa002700.04213423
111Glycerolipid metabolism_Homo sapiens_hsa005610.03321033
112Salivary secretion_Homo sapiens_hsa049700.03193024
113Toxoplasmosis_Homo sapiens_hsa051450.03072523
114Protein digestion and absorption_Homo sapiens_hsa049740.02022348
115Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.01863219

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