HRC

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 luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.42952558
2cardiac myofibril assembly (GO:0055003)8.31649938
3actin-myosin filament sliding (GO:0033275)8.17115203
4muscle filament sliding (GO:0030049)8.17115203
5myofibril assembly (GO:0030239)7.94652696
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.73727088
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.39045965
8regulation of skeletal muscle contraction (GO:0014819)7.10098215
9negative regulation of potassium ion transmembrane transport (GO:1901380)6.93596922
10plasma membrane repair (GO:0001778)6.75804981
11actin-mediated cell contraction (GO:0070252)6.74346018
12cardiac muscle contraction (GO:0060048)6.71600290
13tricarboxylic acid cycle (GO:0006099)6.36163709
14sarcoplasmic reticulum calcium ion transport (GO:0070296)6.23680726
15cardiac muscle cell development (GO:0055013)6.15516835
16* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.14131128
17regulation of actin filament-based movement (GO:1903115)6.04551201
18actomyosin structure organization (GO:0031032)5.93976531
19striated muscle contraction (GO:0006941)5.80217157
20cardiac cell development (GO:0055006)5.77801021
21regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.62595323
22carnitine shuttle (GO:0006853)5.45286238
23cardiac muscle tissue morphogenesis (GO:0055008)5.44383749
24adult heart development (GO:0007512)5.43530364
25* regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.40421277
26regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.37847724
27ventricular cardiac muscle cell action potential (GO:0086005)5.36232150
28bundle of His cell to Purkinje myocyte communication (GO:0086069)5.20450267
29cardiac muscle hypertrophy (GO:0003300)5.16640356
30ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.14859543
31regulation of acyl-CoA biosynthetic process (GO:0050812)5.12393082
32heart process (GO:0003015)5.11004689
33heart contraction (GO:0060047)5.11004689
34actin filament-based movement (GO:0030048)5.05898722
35response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.04616989
36regulation of sarcomere organization (GO:0060297)5.01812132
37striated muscle hypertrophy (GO:0014897)4.95863471
38muscle tissue morphogenesis (GO:0060415)4.93152409
39skeletal muscle contraction (GO:0003009)4.89606381
40* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.87124192
41heart trabecula formation (GO:0060347)4.79379456
42* regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.71778372
43fatty acid transmembrane transport (GO:1902001)4.68258426
44* regulation of striated muscle contraction (GO:0006942)4.66271450
45regulation of cofactor metabolic process (GO:0051193)4.65267646
46regulation of coenzyme metabolic process (GO:0051196)4.65267646
47creatine metabolic process (GO:0006600)4.57334460
48regulation of membrane repolarization (GO:0060306)4.53002864
49muscle hypertrophy (GO:0014896)4.38365010
50regulation of the force of heart contraction (GO:0002026)4.37866426
51cell communication involved in cardiac conduction (GO:0086065)4.27817935
52* regulation of relaxation of muscle (GO:1901077)4.21388077
53mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.20072016
54positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.19721697
55mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.17213557
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.13982777
57carnitine transmembrane transport (GO:1902603)4.03804774
58response to inactivity (GO:0014854)4.03119341
59NADH metabolic process (GO:0006734)4.01132580
60skeletal muscle adaptation (GO:0043501)4.01067929
612-oxoglutarate metabolic process (GO:0006103)3.96199074
62respiratory electron transport chain (GO:0022904)3.94846689
63regulation of cardiac muscle cell contraction (GO:0086004)3.94107001
64* muscle contraction (GO:0006936)3.92584805
65regulation of sequestering of triglyceride (GO:0010889)3.91318952
66ATP synthesis coupled proton transport (GO:0015986)3.89228473
67energy coupled proton transport, down electrochemical gradient (GO:0015985)3.89228473
68membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.86003541
69detection of calcium ion (GO:0005513)3.84552369
70regulation of ATPase activity (GO:0043462)3.84012619
71regulation of ATP catabolic process (GO:1903289)3.84012619
72electron transport chain (GO:0022900)3.82476076
73cardiac muscle cell action potential involved in contraction (GO:0086002)3.81947130
74cardiac chamber formation (GO:0003207)3.80874353
75striated muscle cell development (GO:0055002)3.80543096
76* regulation of cell communication by electrical coupling (GO:0010649)3.80345301
77negative regulation of potassium ion transport (GO:0043267)3.79858251
78negative regulation of protein localization to cell surface (GO:2000009)3.79331483
79oxidative phosphorylation (GO:0006119)3.79173057
80cardiac muscle cell action potential (GO:0086001)3.78579020
81regulation of sulfur metabolic process (GO:0042762)3.78420474
82cardiac muscle hypertrophy in response to stress (GO:0014898)3.71078551
83muscle hypertrophy in response to stress (GO:0003299)3.71078551
84cardiac muscle adaptation (GO:0014887)3.71078551
85positive regulation of cation channel activity (GO:2001259)3.70816222
86cardiac ventricle formation (GO:0003211)3.70084935
87striated muscle adaptation (GO:0014888)3.69506097
88muscle fiber development (GO:0048747)3.68830104
89carnitine transport (GO:0015879)3.67368759
90amino-acid betaine transport (GO:0015838)3.67368759
91* muscle system process (GO:0003012)3.65321568
92oxygen transport (GO:0015671)3.64697661
93negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.63689756
94response to caffeine (GO:0031000)3.61108915
95negative regulation of calcium ion transmembrane transport (GO:1903170)3.58617390
96negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.58617390
97* regulation of muscle contraction (GO:0006937)3.57293257
98* regulation of calcium ion transmembrane transporter activity (GO:1901019)3.55866959
99* regulation of calcium ion transmembrane transport (GO:1903169)3.55866959
100* regulation of heart rate (GO:0002027)3.55440080
101relaxation of cardiac muscle (GO:0055119)3.54567197
102cell communication by electrical coupling (GO:0010644)3.52986207
103* regulation of cardiac muscle contraction (GO:0055117)3.48965858
104muscle adaptation (GO:0043500)3.48605811
105neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.46090084
106* regulation of muscle system process (GO:0090257)3.45144734
107response to muscle activity (GO:0014850)3.44601863
108* regulation of heart contraction (GO:0008016)3.41702017
109striated muscle atrophy (GO:0014891)3.40793633
110glycogen catabolic process (GO:0005980)3.38693175
111muscle cell cellular homeostasis (GO:0046716)3.37910057
112response to epinephrine (GO:0071871)3.36671205
113regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.36295585
114negative regulation of striated muscle cell apoptotic process (GO:0010664)3.33939084
115negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.31299024
116skeletal muscle fiber development (GO:0048741)3.31149353
117cardiac conduction (GO:0061337)3.30930249
118regulation of cardioblast differentiation (GO:0051890)3.27928410
119cellular response to epinephrine stimulus (GO:0071872)3.27253636
120aspartate family amino acid catabolic process (GO:0009068)3.26760814
121muscle cell development (GO:0055001)3.25783200
122skeletal muscle tissue development (GO:0007519)3.25576568

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.55583532
2EP300_21415370_ChIP-Seq_HL-1_Mouse4.52668807
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.36278669
4TBX20_22328084_ChIP-Seq_HEART_Mouse4.07982426
5TBX20_22080862_ChIP-Seq_HEART_Mouse4.07982426
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.99744279
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.40744605
8ESR1_20079471_ChIP-ChIP_T-47D_Human3.32259085
9ZNF263_19887448_ChIP-Seq_K562_Human3.29919921
10BP1_19119308_ChIP-ChIP_Hs578T_Human3.29263884
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.97270767
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.82463503
13CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.56604080
14GATA4_21415370_ChIP-Seq_HL-1_Mouse2.32400162
15EZH2_22144423_ChIP-Seq_EOC_Human2.27955965
16THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.23122976
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.18463029
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.07586015
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.02488208
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.95382924
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.92639997
22EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.90661872
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90611404
24VDR_22108803_ChIP-Seq_LS180_Human1.79427614
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.77259555
26PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.73543788
27NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.70952254
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61650377
29ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.57719195
30CLOCK_20551151_ChIP-Seq_293T_Human1.56032664
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.46693273
32* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.37048291
33NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.36842100
34CTCF_27219007_Chip-Seq_Bcells_Human1.35692978
35FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.35040575
36PPARA_22158963_ChIP-Seq_LIVER_Mouse1.33145817
37* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.32617042
38BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.30924997
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.30861989
40BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.26752889
41DROSHA_22980978_ChIP-Seq_HELA_Human1.24872713
42TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22436437
43LXR_22158963_ChIP-Seq_LIVER_Mouse1.21215198
44TP63_22573176_ChIP-Seq_HFKS_Human1.17542099
45PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.17502388
46* KDM2B_26808549_Chip-Seq_DND41_Human1.17239881
47PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15447967
48LXR_22292898_ChIP-Seq_THP-1_Human1.13349425
49RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12759317
50EZH2_27294783_Chip-Seq_ESCs_Mouse1.11914267
51ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08723012
52SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07719398
53EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06501275
54SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06300654
55GATA1_19941826_ChIP-Seq_K562_Human1.06006018
56GATA2_21666600_ChIP-Seq_HMVEC_Human1.04369414
57STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01749587
58P68_20966046_ChIP-Seq_HELA_Human1.01214332
59SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01198999
60RACK7_27058665_Chip-Seq_MCF-7_Human1.00888618
61ELK3_25401928_ChIP-Seq_HUVEC_Human1.00887498
62ATF3_27146783_Chip-Seq_COLON_Human1.00608870
63RUNX1_27514584_Chip-Seq_MCF-7_Human0.99376426
64SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.98455111
65ZNF274_21170338_ChIP-Seq_K562_Hela0.97741938
66RXR_22158963_ChIP-Seq_LIVER_Mouse0.96862429
67PCGF2_27294783_Chip-Seq_NPCs_Mouse0.96613536
68SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96490046
69SPI1_20517297_ChIP-Seq_HL60_Human0.95628422
70EZH2_27304074_Chip-Seq_ESCs_Mouse0.93695337
71SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.93432474
72RNF2_18974828_ChIP-Seq_MESCs_Mouse0.93127174
73EZH2_18974828_ChIP-Seq_MESCs_Mouse0.93127174
74GATA1_22025678_ChIP-Seq_K562_Human0.92992335
75NR3C1_23031785_ChIP-Seq_PC12_Mouse0.92394413
76RARB_27405468_Chip-Seq_BRAIN_Mouse0.92088587
77SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91483717
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91403683
79SOX9_24532713_ChIP-Seq_HFSC_Mouse0.90914287
80PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.90700661
81CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90393232
82NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.90092559
83ZFP281_18757296_ChIP-ChIP_E14_Mouse0.89891207
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.89843339
85* OCT4_20526341_ChIP-Seq_ESCs_Human0.89663972
86MTF2_20144788_ChIP-Seq_MESCs_Mouse0.89498469
87AR_21572438_ChIP-Seq_LNCaP_Human0.89465416
88FOXH1_21741376_ChIP-Seq_ESCs_Human0.89150898
89* ISL1_27105846_Chip-Seq_CPCs_Mouse0.89136661
90CBX2_27304074_Chip-Seq_ESCs_Mouse0.88559925
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.88392102
92STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.88242206
93EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.88007482
94TRIM28_21343339_ChIP-Seq_HEK293_Human0.87853140
95WT1_19549856_ChIP-ChIP_CCG9911_Human0.87064779
96UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.86991443
97CTNNB1_20460455_ChIP-Seq_HCT116_Human0.86822815
98GATA2_19941826_ChIP-Seq_K562_Human0.85913983
99FOXA2_19822575_ChIP-Seq_HepG2_Human0.85598590
100ESR1_21235772_ChIP-Seq_MCF-7_Human0.85223357
101LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.84992601
102IGF1R_20145208_ChIP-Seq_DFB_Human0.84578665
103EZH2_27294783_Chip-Seq_NPCs_Mouse0.84176189
104GATA1_19941827_ChIP-Seq_MEL_Mouse0.84097345
105CTCF_21964334_Chip-Seq_Bcells_Human0.83558726
106GATA1_19941827_ChIP-Seq_MEL86_Mouse0.83519367
107WT1_25993318_ChIP-Seq_PODOCYTE_Human0.83419512
108SOX2_21211035_ChIP-Seq_LN229_Gbm0.83346162
109SMC1_22415368_ChIP-Seq_MEFs_Mouse0.82368088
110SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.82127970
111AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81981521
112BCL6_27268052_Chip-Seq_Bcells_Human0.81799365
113SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.81509314
114MYC_27129775_Chip-Seq_CORNEA_Mouse0.80338246
115ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.79934734
116GBX2_23144817_ChIP-Seq_PC3_Human0.79918096
117CJUN_26792858_Chip-Seq_BT549_Human0.79764771
118YY1_22570637_ChIP-Seq_MALME-3M_Human0.79405627
119BCOR_27268052_Chip-Seq_Bcells_Human0.78756456
120SMAD3_21741376_ChIP-Seq_HESCs_Human0.78374380
121TP53_23651856_ChIP-Seq_MEFs_Mouse0.78348533
122SMAD4_21799915_ChIP-Seq_A2780_Human0.78272283
123ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78269171
124DNAJC2_21179169_ChIP-ChIP_NT2_Human0.77716550
125GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.76624565
126GF1_26923725_Chip-Seq_HPCs_Mouse0.76509372
127PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.76034243
128HIF1A_21447827_ChIP-Seq_MCF-7_Human0.75607632
129P63_26484246_Chip-Seq_KERATINOCYTES_Human0.75212597
130MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.75159584
131SPI1_23127762_ChIP-Seq_K562_Human0.74471969
132TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.74187922
133GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73938148
134PCGF2_27294783_Chip-Seq_ESCs_Mouse0.73390824
135CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.73297704
136SA1_27219007_Chip-Seq_Bcells_Human0.73007571
137TBL1_22424771_ChIP-Seq_293T_Human0.72855401
138SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.72162163
139CRX_20693478_ChIP-Seq_RETINA_Mouse0.70868502
140PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.70642863
141GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.70251839

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.89248225
2MP0003646_muscle_fatigue6.28738796
3MP0000751_myopathy5.45602288
4MP0004084_abnormal_cardiac_muscle5.29179118
5MP0004215_abnormal_myocardial_fiber4.44261250
6MP0000749_muscle_degeneration4.40551942
7MP0004036_abnormal_muscle_relaxation4.34366678
8MP0005330_cardiomyopathy3.71531115
9MP0004087_abnormal_muscle_fiber3.24288470
10MP0004145_abnormal_muscle_electrophysio3.12888629
11MP0002972_abnormal_cardiac_muscle2.96188055
12MP0000750_abnormal_muscle_regeneration2.93434983
13MP0002106_abnormal_muscle_physiology2.87551228
14MP0005620_abnormal_muscle_contractility2.83409150
15MP0004130_abnormal_muscle_cell2.71814117
16MP0003137_abnormal_impulse_conducting2.66685473
17MP0008775_abnormal_heart_ventricle2.62860847
18MP0002269_muscular_atrophy2.57686016
19MP0010630_abnormal_cardiac_muscle2.46740273
20MP0001544_abnormal_cardiovascular_syste2.45345794
21MP0005385_cardiovascular_system_phenoty2.45345794
22MP0000747_muscle_weakness2.39121141
23MP0005369_muscle_phenotype2.34413082
24* MP0000759_abnormal_skeletal_muscle2.27172760
25MP0006138_congestive_heart_failure2.23591523
26* MP0004484_altered_response_of2.03763481
27MP0003828_pulmonary_edema2.03416171
28MP0004085_abnormal_heartbeat1.90922299
29MP0003221_abnormal_cardiomyocyte_apopto1.90592909
30MP0004233_abnormal_muscle_weight1.90323618
31MP0006036_abnormal_mitochondrial_physio1.80691227
32MP0004510_myositis1.73004388
33MP0002332_abnormal_exercise_endurance1.59837954
34MP0005666_abnormal_adipose_tissue1.53731696
35MP0002127_abnormal_cardiovascular_syste1.48693832
36MP0003950_abnormal_plasma_membrane1.44908468
37MP0005670_abnormal_white_adipose1.31522502
38MP0004185_abnormal_adipocyte_glucose1.18240864
39MP0000343_altered_response_to1.16666943
40MP0003567_abnormal_fetal_cardiomyocyte1.11614702
41MP0002234_abnormal_pharynx_morphology1.09922533
42MP0000266_abnormal_heart_morphology1.07432748
43MP0002108_abnormal_muscle_morphology1.05180693
44MP0005375_adipose_tissue_phenotype1.03500223
45MP0001661_extended_life_span1.03092627
46MP0006035_abnormal_mitochondrial_morpho1.02156470
47MP0010368_abnormal_lymphatic_system0.92325121
48MP0003279_aneurysm0.91379908
49MP0005266_abnormal_metabolism0.90308484
50MP0000733_abnormal_muscle_development0.86364533
51MP0000230_abnormal_systemic_arterial0.75627110
52MP0003806_abnormal_nucleotide_metabolis0.74759615
53MP0003705_abnormal_hypodermis_morpholog0.72993731
54MP0002128_abnormal_blood_circulation0.72718043
55* MP0005165_increased_susceptibility_to0.70086707
56MP0004270_analgesia0.69606171
57MP0002971_abnormal_brown_adipose0.68438039
58MP0004043_abnormal_pH_regulation0.65768849
59MP0003566_abnormal_cell_adhesion0.63176272
60MP0005623_abnormal_meninges_morphology0.63124480
61MP0002909_abnormal_adrenal_gland0.61648986
62MP0004147_increased_porphyrin_level0.56272876
63MP0001879_abnormal_lymphatic_vessel0.56242059
64MP0000003_abnormal_adipose_tissue0.55708451
65MP0000013_abnormal_adipose_tissue0.52034204
66MP0000767_abnormal_smooth_muscle0.51822238
67MP0002078_abnormal_glucose_homeostasis0.50410535
68MP0005187_abnormal_penis_morphology0.50329045
69MP0005451_abnormal_body_composition0.49266600
70MP0005319_abnormal_enzyme/_coenzyme0.48081696
71MP0008961_abnormal_basal_metabolism0.45546447
72MP0001299_abnormal_eye_distance/0.45281843
73MP0005275_abnormal_skin_tensile0.44913488
74MP0008438_abnormal_cutaneous_collagen0.42150400
75MP0002925_abnormal_cardiovascular_devel0.39523756
76MP0005535_abnormal_body_temperature0.33883988
77MP0002638_abnormal_pupillary_reflex0.33665822
78MP0003948_abnormal_gas_homeostasis0.31733014
79MP0004272_abnormal_basement_membrane0.31691450
80MP0005083_abnormal_biliary_tract0.31520840
81MP0005503_abnormal_tendon_morphology0.31044373
82MP0002822_catalepsy0.30723919
83MP0001614_abnormal_blood_vessel0.30586081
84MP0001784_abnormal_fluid_regulation0.29807445
85MP0003984_embryonic_growth_retardation0.29338259
86MP0003941_abnormal_skin_development0.29120411
87MP0002088_abnormal_embryonic_growth/wei0.28022417
88MP0005376_homeostasis/metabolism_phenot0.28011917
89MP0002295_abnormal_pulmonary_circulatio0.26460204
90MP0009115_abnormal_fat_cell0.26339991
91MP0009840_abnormal_foam_cell0.25921086
92MP0002118_abnormal_lipid_homeostasis0.25313380
93MP0003195_calcinosis0.25146848
94MP0001984_abnormal_olfaction0.24459719
95MP0003045_fibrosis0.23254590
96MP0001853_heart_inflammation0.23222350
97MP0003656_abnormal_erythrocyte_physiolo0.23145910
98MP0005332_abnormal_amino_acid0.23135667
99MP0009384_cardiac_valve_regurgitation0.22617389
100* MP0005334_abnormal_fat_pad0.22562504
101MP0005386_behavior/neurological_phenoty0.22335677
102MP0004924_abnormal_behavior0.22335677
103MP0009780_abnormal_chondrocyte_physiolo0.22106948
104MP0005584_abnormal_enzyme/coenzyme_acti0.21899632
105MP0000372_irregular_coat_pigmentation0.21704787
106MP0000762_abnormal_tongue_morphology0.21587350
107MP0008004_abnormal_stomach_pH0.20954756
108MP0001727_abnormal_embryo_implantation0.20574754
109MP0005595_abnormal_vascular_smooth0.20544350
110MP0005452_abnormal_adipose_tissue0.20276375
111MP0002877_abnormal_melanocyte_morpholog0.20225292
112MP0008569_lethality_at_weaning0.19857567
113MP0001958_emphysema0.19758375
114MP0005167_abnormal_blood-brain_barrier0.19108467
115MP0000249_abnormal_blood_vessel0.17993506
116MP0002896_abnormal_bone_mineralization0.17216676
117MP0005409_darkened_coat_color0.16200271

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.50879764
2Calf muscle hypertrophy (HP:0008981)6.95403422
3Exercise-induced myalgia (HP:0003738)6.79357518
4Exercise-induced muscle cramps (HP:0003710)6.65993636
5Muscle hypertrophy of the lower extremities (HP:0008968)6.65859023
6Ventricular tachycardia (HP:0004756)6.54026315
7Muscle fiber splitting (HP:0003555)6.03570846
8Atrial fibrillation (HP:0005110)5.44079405
9Abnormality of the calf musculature (HP:0001430)5.43637035
10Hyporeflexia of lower limbs (HP:0002600)5.30192969
11Myoglobinuria (HP:0002913)5.23780802
12Primary atrial arrhythmia (HP:0001692)5.08688422
13Abnormality of the left ventricular outflow tract (HP:0011103)4.98147928
14Subaortic stenosis (HP:0001682)4.98147928
15Lipoatrophy (HP:0100578)4.95565664
16Supraventricular tachycardia (HP:0004755)4.91948178
17Supraventricular arrhythmia (HP:0005115)4.81480683
18EMG: myopathic abnormalities (HP:0003458)4.60710755
19Right ventricular cardiomyopathy (HP:0011663)4.57218168
20Increased connective tissue (HP:0009025)4.40155051
21Difficulty running (HP:0009046)4.33776358
22Bundle branch block (HP:0011710)4.31498879
23Centrally nucleated skeletal muscle fibers (HP:0003687)4.22628899
24Dilated cardiomyopathy (HP:0001644)4.18870549
25Syncope (HP:0001279)4.14697062
26Rhabdomyolysis (HP:0003201)4.08443228
27Asymmetric septal hypertrophy (HP:0001670)4.04120729
28Palpitations (HP:0001962)4.03082868
29Muscle fiber inclusion bodies (HP:0100299)3.95824783
30Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.89008496
31Myotonia (HP:0002486)3.84796149
32Prolonged QT interval (HP:0001657)3.80149926
33Heart block (HP:0012722)3.58261262
34Ventricular arrhythmia (HP:0004308)3.57134601
35Type 1 muscle fiber predominance (HP:0003803)3.52026940
36Abnormal atrioventricular conduction (HP:0005150)3.38610838
37Atrioventricular block (HP:0001678)3.36878364
38Difficulty climbing stairs (HP:0003551)3.32759232
39Nemaline bodies (HP:0003798)3.19778845
40Ulnar deviation of the wrist (HP:0003049)3.18098332
41Ventricular fibrillation (HP:0001663)3.15339966
42Muscle stiffness (HP:0003552)3.07668296
43Increased variability in muscle fiber diameter (HP:0003557)2.91387748
44Abnormality of skeletal muscle fiber size (HP:0012084)2.84306976
45Distal lower limb muscle weakness (HP:0009053)2.83679605
46Areflexia of lower limbs (HP:0002522)2.80252704
47Hepatic necrosis (HP:0002605)2.77519148
48Left ventricular hypertrophy (HP:0001712)2.75025847
49Abnormal EKG (HP:0003115)2.74242503
50Abnormal mitochondria in muscle tissue (HP:0008316)2.73945865
51Neck muscle weakness (HP:0000467)2.73314611
52Acute necrotizing encephalopathy (HP:0006965)2.70679883
53Calcaneovalgus deformity (HP:0001848)2.67417355
54Limb-girdle muscle atrophy (HP:0003797)2.58865319
55Ketoacidosis (HP:0001993)2.56508096
56Palmoplantar keratoderma (HP:0000982)2.46567242
57Hepatocellular necrosis (HP:0001404)2.44639382
58Testicular atrophy (HP:0000029)2.44533627
59Rimmed vacuoles (HP:0003805)2.40720102
60Bulbar palsy (HP:0001283)2.39200229
61Absent phalangeal crease (HP:0006109)2.37210642
62Distal arthrogryposis (HP:0005684)2.36019108
63Deformed tarsal bones (HP:0008119)2.34818871
64Acute encephalopathy (HP:0006846)2.33898022
65Increased muscle lipid content (HP:0009058)2.32438640
66Malignant hyperthermia (HP:0002047)2.30206764
67Hypoglycemic coma (HP:0001325)2.28518100
68Myopathic facies (HP:0002058)2.24878751
69Mitochondrial inheritance (HP:0001427)2.23883412
70Round ear (HP:0100830)2.23757260
71Distal lower limb amyotrophy (HP:0008944)2.23450662
72Hypoplastic ischia (HP:0003175)2.23287956
73Progressive macrocephaly (HP:0004481)2.23271485
74Muscular dystrophy (HP:0003560)2.18002017
75Abnormality of fatty-acid metabolism (HP:0004359)2.16051421
76Progressive muscle weakness (HP:0003323)2.15915249
77Weak cry (HP:0001612)2.15027980
78EMG: neuropathic changes (HP:0003445)2.14846975
79Cerebral edema (HP:0002181)2.14603108
80Mildly elevated creatine phosphokinase (HP:0008180)2.12861682
81Exercise intolerance (HP:0003546)2.12483400
82Abnormality of dicarboxylic acid metabolism (HP:0010995)2.11792104
83Dicarboxylic aciduria (HP:0003215)2.11792104
84Increased CSF lactate (HP:0002490)2.11035690
85Gowers sign (HP:0003391)2.10623619
86Conjunctival hamartoma (HP:0100780)2.06881070
87Generalized muscle weakness (HP:0003324)2.05261475
88Facial diplegia (HP:0001349)2.04843083
89Abnormality of the foot musculature (HP:0001436)2.02881682
90Lower limb amyotrophy (HP:0007210)2.02220806
91Increased intramyocellular lipid droplets (HP:0012240)2.01534269
92Abnormality of the shoulder girdle musculature (HP:0001435)1.99540866
93Ragged-red muscle fibers (HP:0003200)1.97487302
94Foot dorsiflexor weakness (HP:0009027)1.97094814
95Abnormality of the ischium (HP:0003174)1.94107370
96Lactic acidosis (HP:0003128)1.92523130
97Ketosis (HP:0001946)1.92398889
98Hip contracture (HP:0003273)1.91907306
99Large for gestational age (HP:0001520)1.90893295
100Abnormal finger flexion creases (HP:0006143)1.90651293
101Fatigable weakness (HP:0003473)1.90202286
102Abnormality of the neuromuscular junction (HP:0003398)1.90202286
103Scapular winging (HP:0003691)1.89877713
104Respiratory failure (HP:0002878)1.88834280
105Congestive heart failure (HP:0001635)1.87953370
106Proximal amyotrophy (HP:0007126)1.87118318
107Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.86297599
108Abnormality of alanine metabolism (HP:0010916)1.85925454
109Hyperalaninemia (HP:0003348)1.85925454
110Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.85925454
111Steppage gait (HP:0003376)1.85829595
112Hypoplastic heart (HP:0001961)1.84738204
113Sudden cardiac death (HP:0001645)1.84407488
114Dysmetric saccades (HP:0000641)1.82491523
115Fetal akinesia sequence (HP:0001989)1.80478494
116Limb-girdle muscle weakness (HP:0003325)1.80032846
117Frequent falls (HP:0002359)1.79843741
118Pheochromocytoma (HP:0002666)1.79497111
119Increased serum pyruvate (HP:0003542)1.79146231
120Respiratory insufficiency due to muscle weakness (HP:0002747)1.78245155
121Waddling gait (HP:0002515)1.77291181
122Abnormality of the tricuspid valve (HP:0001702)1.76114606
123Abnormality of glycolysis (HP:0004366)1.69321272
124Hypoplastic left heart (HP:0004383)1.63851956
125Spinal rigidity (HP:0003306)1.63251266
126Aplasia of the musculature (HP:0100854)1.62891999
127Hyperkalemia (HP:0002153)1.50228828
128Abnormality of the calcaneus (HP:0008364)1.44973356

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.66831841
2OBSCN4.99263985
3PHKG24.65749632
4PHKG14.65749632
5LMTK23.46287795
6PDK33.30080601
7PDK43.30080601
8MYLK3.22602635
9DMPK2.95704253
10TRIB32.54249918
11PKN22.53285240
12BCKDK2.49736715
13PIK3CA2.38327468
14MUSK2.33208383
15NEK12.29611619
16PINK12.16990452
17PDK22.01981734
18TIE11.77390668
19STK241.60781692
20GRK71.39696835
21MARK11.36431291
22PAK31.27474178
23MAP3K71.26681129
24MAP2K31.23749347
25PRKD11.20274001
26LIMK11.19581025
27CAMK2D1.16933649
28MAPK121.15580993
29NME11.10538285
30ILK1.03173043
31MAPKAPK30.91908545
32PRKAA10.89983057
33ROCK10.89903177
34EEF2K0.88936840
35PRKAA20.87570620
36STK40.86271087
37MAP3K60.85842404
38ZAK0.85523627
39MAP3K50.85497978
40RIPK10.84630118
41TRPM70.83696703
42PKN10.83415811
43PIK3CG0.79970304
44CDC42BPA0.78334514
45WNK40.78143697
46INSRR0.73775892
47EPHA30.69671790
48STK38L0.68906528
49MAP3K30.68124552
50FLT30.67307380
51PDGFRA0.66943735
52CAMK40.63890762
53EPHB10.62807016
54DAPK30.61340737
55MAPK40.59934991
56ROCK20.57965620
57MAP2K10.57476379
58RPS6KL10.53521874
59RPS6KC10.53521874
60CAMK2B0.53304935
61STK380.52754872
62WNK10.51537567
63CAMK2A0.51172676
64CCNB10.51124393
65TGFBR20.50608264
66PRKACB0.49851440
67KDR0.46213315
68NEK90.46041984
69RPS6KA60.45497168
70MOS0.45267652
71KSR20.44450929
72ICK0.42327959
73CAMK10.39514809
74AKT20.39273798
75CAMK2G0.39133316
76SIK10.38496195
77PRKACA0.38471018
78DYRK1B0.37946962
79PTK2B0.37229223
80PDPK10.36189900
81MAP2K40.35765891
82PRKACG0.35727141
83PRKCE0.34910839
84MAP2K60.31834836
85ERBB30.31322763
86PTK60.30805860
87FGFR30.28340164
88RPS6KA10.27611424
89PDK10.27375455
90PRKCH0.27322079
91TAOK10.25215380
92MAPK100.23663772
93SGK20.22881202
94STK390.22476617
95MAPK110.22456278
96PRKG10.21434648
97PRKD30.21016819
98SGK10.20830591
99MTOR0.19821544
100NME20.19327329
101SGK30.19040143
102JAK10.18997903
103RPS6KA30.18242577
104EPHB20.17669109
105LATS10.17144423
106FER0.16534060
107LATS20.16165290
108NTRK20.15960809
109MAPK70.15737729
110MARK20.15588816
111NLK0.15466514
112MAP3K110.15083239
113MAP3K10.14737472
114RPS6KA20.13516910
115RET0.13463059
116PRKG20.12923097
117ZAP700.12482178
118RPS6KB20.12346538
119FGFR40.11428603
120LRRK20.09862996
121MARK30.09105533
122ITK0.08936894
123PAK60.08337709
124UHMK10.07579074
125MAPK90.07342713
126SGK4940.07312788
127SGK2230.07312788

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.76057889
2Cardiac muscle contraction_Homo sapiens_hsa042604.34361383
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.24823164
4Dilated cardiomyopathy_Homo sapiens_hsa054143.83416472
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.83272678
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.35289350
7Propanoate metabolism_Homo sapiens_hsa006403.25996132
8Parkinsons disease_Homo sapiens_hsa050123.11703115
9Oxidative phosphorylation_Homo sapiens_hsa001903.03067596
10Fatty acid degradation_Homo sapiens_hsa000712.76975817
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.66065507
12Carbon metabolism_Homo sapiens_hsa012002.45972756
13Alzheimers disease_Homo sapiens_hsa050102.35832414
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.24415306
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.18224938
16Fatty acid metabolism_Homo sapiens_hsa012122.08481626
17Huntingtons disease_Homo sapiens_hsa050161.89376869
18Viral myocarditis_Homo sapiens_hsa054161.83086444
19Pyruvate metabolism_Homo sapiens_hsa006201.76008348
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.75022458
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.41774657
22Butanoate metabolism_Homo sapiens_hsa006501.32856784
23Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.30072431
24Starch and sucrose metabolism_Homo sapiens_hsa005001.24714078
25Insulin resistance_Homo sapiens_hsa049311.18215375
26Fatty acid elongation_Homo sapiens_hsa000621.17036552
27Glucagon signaling pathway_Homo sapiens_hsa049221.13845909
28Biosynthesis of amino acids_Homo sapiens_hsa012301.13015115
29Adipocytokine signaling pathway_Homo sapiens_hsa049201.09057833
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.08561204
31PPAR signaling pathway_Homo sapiens_hsa033201.06113341
32Insulin signaling pathway_Homo sapiens_hsa049101.03882715
33cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98594549
34Calcium signaling pathway_Homo sapiens_hsa040200.85696693
35AMPK signaling pathway_Homo sapiens_hsa041520.79260575
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79097307
37Tryptophan metabolism_Homo sapiens_hsa003800.78968828
38Arginine biosynthesis_Homo sapiens_hsa002200.77888279
39Oxytocin signaling pathway_Homo sapiens_hsa049210.77585801
40Arginine and proline metabolism_Homo sapiens_hsa003300.74784165
41Lysine degradation_Homo sapiens_hsa003100.74437671
42Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.73959452
43beta-Alanine metabolism_Homo sapiens_hsa004100.73282960
44Focal adhesion_Homo sapiens_hsa045100.71947399
45Galactose metabolism_Homo sapiens_hsa000520.68947452
46HIF-1 signaling pathway_Homo sapiens_hsa040660.66269798
47Type II diabetes mellitus_Homo sapiens_hsa049300.64295319
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.63275966
49Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.60712948
50Tight junction_Homo sapiens_hsa045300.59069667
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56465442
52Fatty acid biosynthesis_Homo sapiens_hsa000610.55134825
53Fructose and mannose metabolism_Homo sapiens_hsa000510.54949423
54Phenylalanine metabolism_Homo sapiens_hsa003600.49787965
55Central carbon metabolism in cancer_Homo sapiens_hsa052300.49647336
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47702854
57Peroxisome_Homo sapiens_hsa041460.47258497
58Circadian rhythm_Homo sapiens_hsa047100.45852342
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44602336
60Renin secretion_Homo sapiens_hsa049240.44182363
61Gastric acid secretion_Homo sapiens_hsa049710.43856407
62Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43189435
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40267455
64Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39121984
65Long-term potentiation_Homo sapiens_hsa047200.38440819
66ECM-receptor interaction_Homo sapiens_hsa045120.38232268
67cAMP signaling pathway_Homo sapiens_hsa040240.37554827
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35598298
69Insulin secretion_Homo sapiens_hsa049110.35305023
70Adherens junction_Homo sapiens_hsa045200.33036974
71Olfactory transduction_Homo sapiens_hsa047400.31342147
72Amphetamine addiction_Homo sapiens_hsa050310.30687645
73Amoebiasis_Homo sapiens_hsa051460.30107649
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.28585729
75Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.27551289
76Sulfur relay system_Homo sapiens_hsa041220.27488742
77GABAergic synapse_Homo sapiens_hsa047270.26960336
78Metabolic pathways_Homo sapiens_hsa011000.23006649
79Aldosterone synthesis and secretion_Homo sapiens_hsa049250.22713590
80Regulation of actin cytoskeleton_Homo sapiens_hsa048100.22280266
81Prion diseases_Homo sapiens_hsa050200.21607638
82Melanogenesis_Homo sapiens_hsa049160.21517728
83Thyroid hormone synthesis_Homo sapiens_hsa049180.20412306
84Renal cell carcinoma_Homo sapiens_hsa052110.19269429
85Regulation of autophagy_Homo sapiens_hsa041400.19190182
86GnRH signaling pathway_Homo sapiens_hsa049120.19082082
87Circadian entrainment_Homo sapiens_hsa047130.18520408
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.18327317
89Morphine addiction_Homo sapiens_hsa050320.18055404
90Fat digestion and absorption_Homo sapiens_hsa049750.17924444
91Platelet activation_Homo sapiens_hsa046110.17811622
92VEGF signaling pathway_Homo sapiens_hsa043700.17500708
93Linoleic acid metabolism_Homo sapiens_hsa005910.17188070
94Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16871953
95Cysteine and methionine metabolism_Homo sapiens_hsa002700.15980677
96mTOR signaling pathway_Homo sapiens_hsa041500.15164783
97Proteoglycans in cancer_Homo sapiens_hsa052050.14950240
98Tyrosine metabolism_Homo sapiens_hsa003500.13507851
99Dorso-ventral axis formation_Homo sapiens_hsa043200.13147613
100Taste transduction_Homo sapiens_hsa047420.13093570
101Glycerophospholipid metabolism_Homo sapiens_hsa005640.12244023
102FoxO signaling pathway_Homo sapiens_hsa040680.11095197
103Pancreatic secretion_Homo sapiens_hsa049720.09601541
104Gap junction_Homo sapiens_hsa045400.08443816
105Ovarian steroidogenesis_Homo sapiens_hsa049130.08195154
106Cholinergic synapse_Homo sapiens_hsa047250.07536041
107MAPK signaling pathway_Homo sapiens_hsa040100.05569671
108Pentose phosphate pathway_Homo sapiens_hsa000300.05508938
109Glycerolipid metabolism_Homo sapiens_hsa005610.03645041
110AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.03536864
111Bile secretion_Homo sapiens_hsa049760.03395559
112Toxoplasmosis_Homo sapiens_hsa051450.03370937
113Notch signaling pathway_Homo sapiens_hsa043300.02960326
114Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.02206953
115Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.00379736
116Salivary secretion_Homo sapiens_hsa04970-0.0440226
117ABC transporters_Homo sapiens_hsa02010-0.0357748

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »