CACNA1C

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 an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cardiac myofibril assembly (GO:0055003)6.18827786
2sarcomere organization (GO:0045214)5.62850127
3positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.55911312
4* regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.55693993
5negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.37751874
6negative regulation of potassium ion transmembrane transport (GO:1901380)5.20117379
7myofibril assembly (GO:0030239)5.18917485
8* regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.14177278
9* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.99879266
10cardiac muscle contraction (GO:0060048)4.92511988
11* cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.79789183
12regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.60741062
13membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.58008276
14regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.54107985
15ventricular cardiac muscle cell action potential (GO:0086005)4.50123823
16plasma membrane repair (GO:0001778)4.46071997
17regulation of actin filament-based movement (GO:1903115)4.45355476
18regulation of membrane repolarization (GO:0060306)4.44601740
19* cell communication involved in cardiac conduction (GO:0086065)4.37507557
20cardiac muscle hypertrophy (GO:0003300)4.32798183
21* cell communication by electrical coupling (GO:0010644)4.31677932
22cardiac muscle cell development (GO:0055013)4.15385331
23adult heart development (GO:0007512)4.10493658
24striated muscle hypertrophy (GO:0014897)4.10012121
25detection of calcium ion (GO:0005513)4.09610569
26regulation of relaxation of muscle (GO:1901077)4.08165588
27regulation of cell communication by electrical coupling (GO:0010649)4.05616909
28negative regulation of cytosolic calcium ion concentration (GO:0051481)3.91247598
29sarcoplasmic reticulum calcium ion transport (GO:0070296)3.90242211
30cardiac cell development (GO:0055006)3.88104705
31actomyosin structure organization (GO:0031032)3.87810415
32relaxation of cardiac muscle (GO:0055119)3.82960553
33regulation of sarcomere organization (GO:0060297)3.82683153
34positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.81996815
35cardiac conduction (GO:0061337)3.75440011
36regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.72478376
37cardiac chamber formation (GO:0003207)3.67408106
38cardiac muscle cell action potential (GO:0086001)3.66011327
39positive regulation of potassium ion transmembrane transport (GO:1901381)3.65766441
40regulation of cardiac muscle cell contraction (GO:0086004)3.65296730
41regulation of the force of heart contraction (GO:0002026)3.64428434
42cardiac muscle tissue morphogenesis (GO:0055008)3.61235694
43cardiac muscle cell action potential involved in contraction (GO:0086002)3.60629526
44regulation of synapse structural plasticity (GO:0051823)3.59467977
45* regulation of striated muscle contraction (GO:0006942)3.57726800
46striated muscle contraction (GO:0006941)3.56427995
47ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.55956762
48neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.54172341
49muscle hypertrophy (GO:0014896)3.54101820
50regulation of heart rate by cardiac conduction (GO:0086091)3.53106975
51muscle filament sliding (GO:0030049)3.49447413
52actin-myosin filament sliding (GO:0033275)3.49447413
53regulation of calcium ion transmembrane transporter activity (GO:1901019)3.47234553
54regulation of calcium ion transmembrane transport (GO:1903169)3.47234553
55membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.45283165
56bundle of His cell to Purkinje myocyte communication (GO:0086069)3.43265579
57regulation of heart rate (GO:0002027)3.40511658
58locomotory exploration behavior (GO:0035641)3.38825601
59* regulation of cardiac muscle contraction (GO:0055117)3.38628498
60positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.38608641
61regulation of short-term neuronal synaptic plasticity (GO:0048172)3.35790831
62positive regulation of cation channel activity (GO:2001259)3.32323723
63tricarboxylic acid cycle (GO:0006099)3.29197361
64cardiac ventricle formation (GO:0003211)3.24818148
65heart trabecula formation (GO:0060347)3.24502500
66negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.23854023
67negative regulation of potassium ion transport (GO:0043267)3.22326429
68regulation of skeletal muscle contraction (GO:0014819)3.21477689
69cellular response to epinephrine stimulus (GO:0071872)3.21303683
70muscle tissue morphogenesis (GO:0060415)3.20929009
71vocalization behavior (GO:0071625)3.17207965
72* regulation of heart contraction (GO:0008016)3.12494899
73cell migration involved in heart development (GO:0060973)3.10444537
74negative regulation of protein localization to cell surface (GO:2000009)3.10110969
75positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.08841285
76cardiac muscle hypertrophy in response to stress (GO:0014898)3.08793619
77muscle hypertrophy in response to stress (GO:0003299)3.08793619
78cardiac muscle adaptation (GO:0014887)3.08793619
79membrane repolarization during action potential (GO:0086011)3.07958562
80regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.06274340
81membrane repolarization (GO:0086009)3.05645884
82synaptic vesicle maturation (GO:0016188)3.05194362
83regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.03987227
84activation of protein kinase A activity (GO:0034199)3.03951754
85potassium ion import (GO:0010107)3.02307415
86regulation of cardioblast differentiation (GO:0051890)3.02146821
87positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.02138987
88positive regulation of potassium ion transport (GO:0043268)3.00425416
89response to epinephrine (GO:0071871)2.99013797
90regulation of potassium ion transmembrane transport (GO:1901379)2.97879688
91regulation of cation channel activity (GO:2001257)2.96979328
92actin-mediated cell contraction (GO:0070252)2.94761577
93carnitine shuttle (GO:0006853)2.93700519
94regulation of glutamate receptor signaling pathway (GO:1900449)2.91631182
95positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.90005298
96potassium ion export (GO:0071435)2.89973683
97regulation of potassium ion transmembrane transporter activity (GO:1901016)2.88799355
98synaptic vesicle docking involved in exocytosis (GO:0016081)2.88425951
99regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.87694649
100positive regulation of heart rate (GO:0010460)2.87547993
101atrial septum morphogenesis (GO:0060413)2.87122579
102multicellular organismal signaling (GO:0035637)2.86660964
103adrenergic receptor signaling pathway (GO:0071875)2.85534621
104positive regulation of heart contraction (GO:0045823)2.83583549
105positive regulation of ion transmembrane transporter activity (GO:0032414)2.83053865
106positive regulation of action potential (GO:0045760)2.83037545
107sodium ion export (GO:0071436)2.80792131
108* membrane depolarization during action potential (GO:0086010)2.78893705
109relaxation of smooth muscle (GO:0044557)2.78441475
110relaxation of muscle (GO:0090075)2.76660765
111regulation of voltage-gated calcium channel activity (GO:1901385)2.74628812
112positive regulation of cardiac muscle cell differentiation (GO:2000727)2.73881780
113endocardial cushion development (GO:0003197)2.71947356
114regulation of acyl-CoA biosynthetic process (GO:0050812)2.70659971
115positive regulation of sodium ion transport (GO:0010765)2.70368383
116cellular response to catecholamine stimulus (GO:0071870)2.64625892
117cellular response to monoamine stimulus (GO:0071868)2.64625892
118glutamate secretion (GO:0014047)2.54247280
119response to monoamine (GO:0071867)2.52451539
120response to catecholamine (GO:0071869)2.52451539
121regulation of axon extension involved in axon guidance (GO:0048841)2.52105001
122dendritic spine morphogenesis (GO:0060997)2.50928046
123extracellular matrix assembly (GO:0085029)2.48172353
124cardiac muscle tissue development (GO:0048738)2.46367693
125ionotropic glutamate receptor signaling pathway (GO:0035235)2.45690593
126outflow tract septum morphogenesis (GO:0003148)2.41313524
127regulation of axon guidance (GO:1902667)2.35217624
128* muscle contraction (GO:0006936)2.34083282
129cellular potassium ion homeostasis (GO:0030007)2.34019274

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.39739549
2GBX2_23144817_ChIP-Seq_PC3_Human2.90691990
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.78439514
4EP300_21415370_ChIP-Seq_HL-1_Mouse2.69744069
5* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.60993965
6DROSHA_22980978_ChIP-Seq_HELA_Human2.52972030
7* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.45708898
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44080051
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44080051
10* EZH2_27304074_Chip-Seq_ESCs_Mouse2.29274255
11* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27097359
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.22480673
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.16619985
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.15511444
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.07318416
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.03086174
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.01514603
18* RARB_27405468_Chip-Seq_BRAIN_Mouse1.97058118
19* EZH2_27294783_Chip-Seq_ESCs_Mouse1.94839904
20RNF2_27304074_Chip-Seq_ESCs_Mouse1.93054433
21CDX2_19796622_ChIP-Seq_MESCs_Mouse1.77227346
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.75216180
23REST_21632747_ChIP-Seq_MESCs_Mouse1.72963681
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.67117438
25ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.58013357
26TBX20_22080862_ChIP-Seq_HEART_Mouse1.57558053
27TBX20_22328084_ChIP-Seq_HEART_Mouse1.57558053
28* SMAD4_21799915_ChIP-Seq_A2780_Human1.54620326
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.50197797
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.49957746
31ESR1_20079471_ChIP-ChIP_T-47D_Human1.48859247
32PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.48168964
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.47868060
34NR3C1_23031785_ChIP-Seq_PC12_Mouse1.46853130
35PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.45724338
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.45181620
37ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.45141709
38EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.44014091
39REST_18959480_ChIP-ChIP_MESCs_Mouse1.43242585
40* SOX2_21211035_ChIP-Seq_LN229_Gbm1.40807638
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.39893930
42AR_21572438_ChIP-Seq_LNCaP_Human1.39012615
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.38557800
44PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.36557592
45* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.35011445
46ZNF274_21170338_ChIP-Seq_K562_Hela1.34614050
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.32950490
48ZNF217_24962896_ChIP-Seq_MCF-7_Human1.26264530
49* AR_19668381_ChIP-Seq_PC3_Human1.26133939
50AHR_22903824_ChIP-Seq_MCF-7_Human1.25144055
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24337105
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24008833
53TP53_16413492_ChIP-PET_HCT116_Human1.20496113
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.18978777
55MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.18547005
56NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.18031738
57* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.17537305
58VDR_22108803_ChIP-Seq_LS180_Human1.17302313
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.16856567
60SMAD3_21741376_ChIP-Seq_HESCs_Human1.16378242
61CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15849157
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.14472153
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.14449777
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14416495
65WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.14222239
66* STAT3_23295773_ChIP-Seq_U87_Human1.14013328
67SMAD_19615063_ChIP-ChIP_OVARY_Human1.13675887
68NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.13675037
69NRF2_20460467_ChIP-Seq_MEFs_Mouse1.13675037
70GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13651804
71* SMAD4_21741376_ChIP-Seq_HESCs_Human1.12554366
72* PIAS1_25552417_ChIP-Seq_VCAP_Human1.12231065
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.10694072
74RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10160619
75RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08764340
76TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08541029
77TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06630995
78ISL1_27105846_Chip-Seq_CPCs_Mouse1.06236147
79CJUN_26792858_Chip-Seq_BT549_Human1.05034027
80* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05005490
81KDM2B_26808549_Chip-Seq_K562_Human1.04865315
82IKZF1_21737484_ChIP-ChIP_HCT116_Human1.04491879
83* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04202334
84* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03949639
85* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03750317
86* TCF4_23295773_ChIP-Seq_U87_Human1.03517395
87* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.02080985
88BCAT_22108803_ChIP-Seq_LS180_Human1.01722873
89MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00572339
90* TP53_18474530_ChIP-ChIP_U2OS_Human1.00083441
91CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.00065912
92NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.99426537
93LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98671807
94* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.98445368
95TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97265208
96POU3F2_20337985_ChIP-ChIP_501MEL_Human0.97107773
97MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96897287
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96891052
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96891052
100BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96245518
101RNF2_27304074_Chip-Seq_NSC_Mouse0.96218338
102ZFP57_27257070_Chip-Seq_ESCs_Mouse0.96020937
103AR_25329375_ChIP-Seq_VCAP_Human0.95373071
104CBX2_27304074_Chip-Seq_ESCs_Mouse0.95041765
105* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94868083
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94556989
107DNAJC2_21179169_ChIP-ChIP_NT2_Human0.94131026
108OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93666584
109ZFP281_18757296_ChIP-ChIP_E14_Mouse0.92712718
110TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91839383
111RING1B_27294783_Chip-Seq_NPCs_Mouse0.91341672
112P300_19829295_ChIP-Seq_ESCs_Human0.90930322
113TAF15_26573619_Chip-Seq_HEK293_Human0.90887742
114THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.89140328
115* CTCF_27219007_Chip-Seq_Bcells_Human0.86637510
116ERG_21242973_ChIP-ChIP_JURKAT_Human0.86235003
117RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.84967264
118* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83354202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis5.64337427
2MP0004084_abnormal_cardiac_muscle4.62493492
3MP0000751_myopathy4.29457825
4* MP0004215_abnormal_myocardial_fiber4.11656442
5MP0003646_muscle_fatigue3.70958729
6MP0004859_abnormal_synaptic_plasticity3.51399834
7MP0004036_abnormal_muscle_relaxation3.35826971
8MP0005503_abnormal_tendon_morphology3.26612698
9MP0005330_cardiomyopathy2.95409065
10MP0008438_abnormal_cutaneous_collagen2.92632706
11MP0003137_abnormal_impulse_conducting2.87695427
12MP0000749_muscle_degeneration2.66083969
13MP0002972_abnormal_cardiac_muscle2.61000509
14MP0008775_abnormal_heart_ventricle2.51119188
15MP0004085_abnormal_heartbeat2.36846771
16MP0004087_abnormal_muscle_fiber2.32256511
17MP0004484_altered_response_of2.26278109
18MP0005620_abnormal_muscle_contractility2.23263464
19MP0004145_abnormal_muscle_electrophysio2.17786931
20MP0004510_myositis2.14225354
21* MP0003635_abnormal_synaptic_transmissio2.06766807
22MP0006138_congestive_heart_failure2.03767983
23MP0001544_abnormal_cardiovascular_syste2.01715906
24MP0005385_cardiovascular_system_phenoty2.01715906
25MP0005275_abnormal_skin_tensile1.98020579
26MP0010630_abnormal_cardiac_muscle1.97033428
27MP0001958_emphysema1.96628720
28MP0004130_abnormal_muscle_cell1.93090415
29MP0003880_abnormal_central_pattern1.85686491
30MP0002106_abnormal_muscle_physiology1.78142862
31MP0010386_abnormal_urinary_bladder1.75509709
32MP0009780_abnormal_chondrocyte_physiolo1.73844659
33MP0004270_analgesia1.73547251
34MP0002822_catalepsy1.72224494
35MP0000750_abnormal_muscle_regeneration1.71781343
36MP0002909_abnormal_adrenal_gland1.71315270
37MP0009745_abnormal_behavioral_response1.68348248
38MP0002269_muscular_atrophy1.61145901
39MP0009046_muscle_twitch1.57796998
40* MP0002063_abnormal_learning/memory/cond1.53586883
41MP0003828_pulmonary_edema1.52533907
42MP0004233_abnormal_muscle_weight1.52134389
43MP0005369_muscle_phenotype1.51925668
44MP0002064_seizures1.46736944
45MP0002127_abnormal_cardiovascular_syste1.45592415
46MP0000747_muscle_weakness1.43292588
47MP0000759_abnormal_skeletal_muscle1.41348751
48MP0009384_cardiac_valve_regurgitation1.39681028
49MP0000462_abnormal_digestive_system1.36736087
50MP0002272_abnormal_nervous_system1.32758518
51MP0001968_abnormal_touch/_nociception1.29297383
52* MP0002572_abnormal_emotion/affect_behav1.25069717
53MP0002295_abnormal_pulmonary_circulatio1.22580713
54MP0002234_abnormal_pharynx_morphology1.21327415
55MP0005623_abnormal_meninges_morphology1.18084732
56MP0001486_abnormal_startle_reflex1.17070386
57MP0000767_abnormal_smooth_muscle1.15875446
58MP0002734_abnormal_mechanical_nocicepti1.15822482
59MP0008569_lethality_at_weaning1.15470922
60MP0004924_abnormal_behavior1.14791350
61MP0005386_behavior/neurological_phenoty1.14791350
62MP0000013_abnormal_adipose_tissue1.06751300
63MP0005423_abnormal_somatic_nervous1.05734464
64MP0003122_maternal_imprinting1.04749490
65MP0003221_abnormal_cardiomyocyte_apopto1.03533036
66MP0005187_abnormal_penis_morphology1.01354293
67MP0002067_abnormal_sensory_capabilities0.98270483
68MP0004858_abnormal_nervous_system0.98230565
69MP0001440_abnormal_grooming_behavior0.96556835
70MP0005595_abnormal_vascular_smooth0.96148615
71MP0010368_abnormal_lymphatic_system0.90025982
72MP0000534_abnormal_ureter_morphology0.89571088
73MP0000266_abnormal_heart_morphology0.88761964
74MP0002736_abnormal_nociception_after0.86539364
75MP0005508_abnormal_skeleton_morphology0.86206630
76MP0003045_fibrosis0.85478319
77MP0003329_amyloid_beta_deposits0.85274929
78* MP0001970_abnormal_pain_threshold0.84244115
79MP0002733_abnormal_thermal_nociception0.83865129
80MP0001879_abnormal_lymphatic_vessel0.83839287
81MP0003283_abnormal_digestive_organ0.83547893
82MP0002184_abnormal_innervation0.83513034
83* MP0002735_abnormal_chemical_nociception0.83275236
84MP0001299_abnormal_eye_distance/0.82780960
85MP0003279_aneurysm0.82420545
86MP0000778_abnormal_nervous_system0.81182735
87MP0008961_abnormal_basal_metabolism0.80833018
88MP0001501_abnormal_sleep_pattern0.80426949
89MP0002108_abnormal_muscle_morphology0.79511558
90MP0004811_abnormal_neuron_physiology0.78896753
91MP0000569_abnormal_digit_pigmentation0.78857893
92MP0000230_abnormal_systemic_arterial0.78682210
93MP0005409_darkened_coat_color0.78540260
94MP0008004_abnormal_stomach_pH0.77985934
95MP0001348_abnormal_lacrimal_gland0.75818082
96MP0003705_abnormal_hypodermis_morpholog0.75489427
97MP0002557_abnormal_social/conspecific_i0.75267134
98MP0001664_abnormal_digestion0.74999195
99MP0000538_abnormal_urinary_bladder0.74603640
100MP0004043_abnormal_pH_regulation0.72804180
101MP0005646_abnormal_pituitary_gland0.71411464
102MP0005165_increased_susceptibility_to0.71397713
103MP0005666_abnormal_adipose_tissue0.71340916
104MP0003567_abnormal_fetal_cardiomyocyte0.70626739
105MP0003950_abnormal_plasma_membrane0.70420294
106MP0002638_abnormal_pupillary_reflex0.70289453
107MP0000003_abnormal_adipose_tissue0.69832252
108* MP0002066_abnormal_motor_capabilities/c0.68678670
109MP0005670_abnormal_white_adipose0.68504876
110MP0000955_abnormal_spinal_cord0.65880009
111MP0005375_adipose_tissue_phenotype0.65038500
112MP0002332_abnormal_exercise_endurance0.63734637
113MP0002882_abnormal_neuron_morphology0.63496977
114MP0006276_abnormal_autonomic_nervous0.59377469
115* MP0003633_abnormal_nervous_system0.58371570
116MP0003879_abnormal_hair_cell0.57752988
117MP0002128_abnormal_blood_circulation0.55454905
118MP0001502_abnormal_circadian_rhythm0.55348886
119MP0005535_abnormal_body_temperature0.54954924
120MP0006036_abnormal_mitochondrial_physio0.53205992
121MP0001984_abnormal_olfaction0.52926974
122MP0004272_abnormal_basement_membrane0.50505112

Predicted human phenotypes

RankGene SetZ-score
1* Sudden death (HP:0001699)7.39383795
2* Atrial fibrillation (HP:0005110)5.97256982
3Ventricular tachycardia (HP:0004756)5.68115921
4* Primary atrial arrhythmia (HP:0001692)5.63952149
5* Supraventricular tachycardia (HP:0004755)5.37255124
6* Supraventricular arrhythmia (HP:0005115)5.26248218
7* Syncope (HP:0001279)5.01803318
8Calf muscle hypertrophy (HP:0008981)4.99415246
9Bundle branch block (HP:0011710)4.92070466
10Aortic aneurysm (HP:0004942)4.69072324
11Abnormality of the calf musculature (HP:0001430)4.65905440
12Ventricular fibrillation (HP:0001663)4.64122441
13* Prolonged QT interval (HP:0001657)4.51069921
14Muscle hypertrophy of the lower extremities (HP:0008968)4.45035266
15Right ventricular cardiomyopathy (HP:0011663)4.41741915
16Abnormality of the left ventricular outflow tract (HP:0011103)4.33279108
17Subaortic stenosis (HP:0001682)4.33279108
18Lipoatrophy (HP:0100578)4.32992245
19Muscle fiber splitting (HP:0003555)4.16482092
20Exercise-induced myalgia (HP:0003738)4.15405644
21* Ventricular arrhythmia (HP:0004308)3.93227632
22Heart block (HP:0012722)3.87331715
23Hyporeflexia of lower limbs (HP:0002600)3.81842301
24Aortic dissection (HP:0002647)3.81606853
25Atrioventricular block (HP:0001678)3.75245749
26Exercise-induced muscle cramps (HP:0003710)3.66647922
27Abnormal atrioventricular conduction (HP:0005150)3.62501756
28* Abnormal EKG (HP:0003115)3.60692042
29Dilated cardiomyopathy (HP:0001644)3.56252842
30Palpitations (HP:0001962)3.49152718
31Focal motor seizures (HP:0011153)3.33438960
32Type 1 muscle fiber predominance (HP:0003803)3.28576035
33EMG: myopathic abnormalities (HP:0003458)3.17731796
34Protrusio acetabuli (HP:0003179)3.10027117
35Asymmetric septal hypertrophy (HP:0001670)3.01855764
36Myokymia (HP:0002411)2.99617524
37Myotonia (HP:0002486)2.97261819
38Myoglobinuria (HP:0002913)2.94275648
39Left ventricular hypertrophy (HP:0001712)2.92735831
40Dysmetric saccades (HP:0000641)2.92471995
41Difficulty running (HP:0009046)2.65586943
42Increased connective tissue (HP:0009025)2.64032271
43Premature rupture of membranes (HP:0001788)2.63742909
44Focal seizures (HP:0007359)2.56811830
45Aortic regurgitation (HP:0001659)2.53145737
46Aneurysm (HP:0002617)2.52213598
47Pheochromocytoma (HP:0002666)2.51428322
48Hypoventilation (HP:0002791)2.41074422
49Broad metatarsal (HP:0001783)2.36387113
50Wide anterior fontanel (HP:0000260)2.36328491
51Bradycardia (HP:0001662)2.33635124
52Cerebral aneurysm (HP:0004944)2.32293867
53Obstructive sleep apnea (HP:0002870)2.28379244
54Pulmonary artery stenosis (HP:0004415)2.27416629
55Increased variability in muscle fiber diameter (HP:0003557)2.27075462
56Lower limb amyotrophy (HP:0007210)2.26808998
57Visual hallucinations (HP:0002367)2.19975777
58Bladder diverticulum (HP:0000015)2.19241835
59Overgrowth (HP:0001548)2.19174572
60Atrophic scars (HP:0001075)2.17204155
61Shallow orbits (HP:0000586)2.17015594
62Hypoplastic ischia (HP:0003175)2.16573268
63Difficulty climbing stairs (HP:0003551)2.15139417
64Ketoacidosis (HP:0001993)2.14868734
65Bowel diverticulosis (HP:0005222)2.12862139
66Neoplasm of the heart (HP:0100544)2.09723911
67Neuroendocrine neoplasm (HP:0100634)2.08600131
68Vascular tortuosity (HP:0004948)2.08056501
69Action tremor (HP:0002345)2.07306516
70Neonatal short-limb short stature (HP:0008921)2.06520297
71Soft skin (HP:0000977)2.05988086
72Mildly elevated creatine phosphokinase (HP:0008180)2.05558525
73Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.05459061
74Limited hip movement (HP:0008800)2.04438118
75Palmoplantar keratoderma (HP:0000982)2.02369479
76Hip contracture (HP:0003273)2.00303297
77Hyperventilation (HP:0002883)1.99745115
78Distal lower limb amyotrophy (HP:0008944)1.99548714
79Dysdiadochokinesis (HP:0002075)1.98875582
80Broad-based gait (HP:0002136)1.97923381
81* Sudden cardiac death (HP:0001645)1.96606002
82Progressive cerebellar ataxia (HP:0002073)1.96578965
83Hyperinsulinemic hypoglycemia (HP:0000825)1.95535590
84Poor eye contact (HP:0000817)1.95030950
85Abnormality of the foot musculature (HP:0001436)1.94171694
86Infantile muscular hypotonia (HP:0008947)1.90883224
87Wormian bones (HP:0002645)1.90540225
88Mitral valve prolapse (HP:0001634)1.89770412
89Large for gestational age (HP:0001520)1.89365658
90Abnormality of the ischium (HP:0003174)1.89203285
91Depression (HP:0000716)1.88399910
92Ankle contracture (HP:0006466)1.87989267
93Hamartoma of the eye (HP:0010568)1.87476406
94Lymphangioma (HP:0100764)1.85237725
95Impaired social interactions (HP:0000735)1.85114647
96Abnormal social behavior (HP:0012433)1.85114647
97Epileptic encephalopathy (HP:0200134)1.84828290
98Testicular atrophy (HP:0000029)1.84406695
99Mild short stature (HP:0003502)1.82412160
100Foot dorsiflexor weakness (HP:0009027)1.78110320
101Follicular hyperkeratosis (HP:0007502)1.77869288
102Abnormality of skeletal muscle fiber size (HP:0012084)1.77830266
103Limb dystonia (HP:0002451)1.77829071
104Anxiety (HP:0000739)1.76807825
105Febrile seizures (HP:0002373)1.76202257
106Gaze-evoked nystagmus (HP:0000640)1.76115679
107Decreased circulating renin level (HP:0003351)1.75625532
108Truncal ataxia (HP:0002078)1.75347909
109Spinal rigidity (HP:0003306)1.75242686
110Congestive heart failure (HP:0001635)1.75145448
111Persistence of primary teeth (HP:0006335)1.74831242
112Steppage gait (HP:0003376)1.74322273
113Central scotoma (HP:0000603)1.73825142
114Genetic anticipation (HP:0003743)1.73427724
115Limb-girdle muscle atrophy (HP:0003797)1.73045516
116Fragile skin (HP:0001030)1.72523251
117Generalized tonic-clonic seizures (HP:0002069)1.71054052
118Scapular winging (HP:0003691)1.70626519
119Hypoplasia of the iris (HP:0007676)1.69415300
120EMG: neuropathic changes (HP:0003445)1.69080462
121Torticollis (HP:0000473)1.68981094
122Congenital malformation of the right heart (HP:0011723)1.65341644
123Double outlet right ventricle (HP:0001719)1.65341644
124Genu recurvatum (HP:0002816)1.63686352
125Atonic seizures (HP:0010819)1.63288987
126Dysmetria (HP:0001310)1.62892930
127Dialeptic seizures (HP:0011146)1.62762383
128Hypoplastic left heart (HP:0004383)1.61600975
129Arterial tortuosity (HP:0005116)1.61168064
130Postural instability (HP:0002172)1.60866646
131Muscular dystrophy (HP:0003560)1.60605544
132Coronal craniosynostosis (HP:0004440)1.60584447
133Rapidly progressive (HP:0003678)1.60440404
134Hyperglycemia (HP:0003074)1.59558997
135Protruding tongue (HP:0010808)1.58674650
136Mitral regurgitation (HP:0001653)1.57869460
137Athetosis (HP:0002305)1.56828614
138Proximal amyotrophy (HP:0007126)1.56411254
139Hypoglycemic coma (HP:0001325)1.56279733
140Insulin-resistant diabetes mellitus (HP:0000831)1.56167681
141Neck muscle weakness (HP:0000467)1.56000863
142Neoplasm of the adrenal gland (HP:0100631)1.54832200
143Absence seizures (HP:0002121)1.53852562
144Pancreatic islet-cell hyperplasia (HP:0004510)1.53678606
145Neoplasm of the peripheral nervous system (HP:0100007)1.51387766

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK23.22040753
2NTRK33.10735259
3PHKG13.04399277
4PHKG23.04399277
5TTN3.00822441
6OBSCN2.86266413
7DMPK2.78149821
8EPHA42.49903097
9MYLK2.40895532
10FRK2.18090266
11AKT32.10803521
12DDR22.03097587
13INSRR1.93623995
14PRKD31.91692278
15PDK41.84468385
16PDK31.84468385
17PKN21.84461324
18MAP3K41.81102234
19MARK11.80694238
20PAK31.65171100
21TRIB31.60552446
22PIK3CA1.58344440
23CDC42BPA1.56545396
24STK381.56086901
25PAK61.49531954
26MUSK1.47551673
27PINK11.44491731
28CAMK2D1.43907071
29MAP3K91.39727520
30NEK11.38364780
31TRPM71.35835814
32PDGFRA1.30083103
33STK241.28346898
34DAPK21.27042667
35CAMKK11.23009055
36NTRK21.21244500
37WNK11.20476385
38PRPF4B1.19266566
39MINK11.17956896
40RIPK11.17217268
41PAK21.16699847
42TIE11.14840845
43CAMK11.13224243
44TNIK1.12545375
45KSR21.06713280
46CAMK41.05022516
47PRKCH1.04301919
48MAP2K71.04009985
49* CAMK2A1.00259997
50ROCK10.97496926
51GRK70.96865535
52STK38L0.95396110
53MAP3K70.95256674
54NTRK10.93716150
55* PRKD10.92051841
56CDK120.90104027
57WNK40.89736119
58MAP2K40.89520917
59SGK30.88602050
60PDK20.88470402
61PTK2B0.87590647
62SGK20.85988443
63UHMK10.84028464
64MAP3K60.83202425
65MAPK130.81468533
66PRKCE0.79793125
67LIMK10.79505992
68CAMKK20.79464712
69* CDK50.79185166
70PTK20.78990001
71RET0.78691751
72PRKAA10.77722325
73MARK20.77375671
74MAPK70.76793751
75SGK2230.75424738
76SGK4940.75424738
77LATS20.75380226
78ILK0.73856874
79KSR10.73803514
80TAOK10.71219645
81ZAK0.71140250
82FER0.70104927
83SGK10.69466866
84ADRBK10.68558659
85PKN10.68196940
86STK110.66858097
87NEK90.65436588
88DAPK30.64060030
89CAMK1G0.63862230
90MAPK120.63782384
91MTOR0.62067293
92PDPK10.61341997
93SIK20.60443414
94MAPKAPK30.57137726
95PDK10.56497254
96CASK0.56230468
97CAMK2B0.56116576
98MAP3K20.53904687
99ICK0.53636103
100PRKAA20.53117516
101PRKCG0.52574748
102ROCK20.50966523
103MAP3K50.50697694
104GRK50.50690625
105RPS6KL10.50379318
106RPS6KC10.50379318
107NLK0.50210617
108MAPK40.49359311
109RPS6KA60.49157698
110MAP3K10.47552822
111PRKD20.46576817
112* RPS6KA30.46249102
113* PRKACA0.45645278
114PRKACG0.45559071
115TESK10.45121624
116DYRK1A0.43833703
117LATS10.42937999
118CAMK2G0.42820462
119EPHA30.42149687
120PRKG10.41092902
121PDGFRB0.41086207
122RPS6KA20.40667740
123MAP2K10.40600146
124SIK10.40597951
125MAPK100.39936838

Predicted pathways (KEGG)

RankGene SetZ-score
1* Dilated cardiomyopathy_Homo sapiens_hsa054143.14817294
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.03768825
3* Cardiac muscle contraction_Homo sapiens_hsa042602.93408848
4* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.74134822
5* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.32909635
6* Circadian entrainment_Homo sapiens_hsa047132.20791464
7* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.08698702
8Nicotine addiction_Homo sapiens_hsa050332.02736078
9Olfactory transduction_Homo sapiens_hsa047401.99487981
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.92168028
11* Insulin secretion_Homo sapiens_hsa049111.91034889
12Morphine addiction_Homo sapiens_hsa050321.84150534
13* Glutamatergic synapse_Homo sapiens_hsa047241.73704314
14* Long-term potentiation_Homo sapiens_hsa047201.70624625
15* Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.67927109
16* GABAergic synapse_Homo sapiens_hsa047271.63840498
17* Calcium signaling pathway_Homo sapiens_hsa040201.62377298
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.60256801
19* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.59616725
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.57507400
21Gastric acid secretion_Homo sapiens_hsa049711.55865776
22Salivary secretion_Homo sapiens_hsa049701.53603329
23* Oxytocin signaling pathway_Homo sapiens_hsa049211.53371651
24* Amphetamine addiction_Homo sapiens_hsa050311.52318352
25* cGMP-PKG signaling pathway_Homo sapiens_hsa040221.52116239
26Synaptic vesicle cycle_Homo sapiens_hsa047211.46790345
27* Type II diabetes mellitus_Homo sapiens_hsa049301.46023217
28* Cholinergic synapse_Homo sapiens_hsa047251.42155671
29* Renin secretion_Homo sapiens_hsa049241.41994483
30* Dopaminergic synapse_Homo sapiens_hsa047281.39000434
31* cAMP signaling pathway_Homo sapiens_hsa040241.35097009
32Protein digestion and absorption_Homo sapiens_hsa049741.24863477
33* Taste transduction_Homo sapiens_hsa047421.22862483
34Cocaine addiction_Homo sapiens_hsa050301.19701454
35Gap junction_Homo sapiens_hsa045401.13654553
36* Vascular smooth muscle contraction_Homo sapiens_hsa042701.11901219
37Propanoate metabolism_Homo sapiens_hsa006401.10408640
38Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.10303599
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09897651
40Glucagon signaling pathway_Homo sapiens_hsa049221.08036202
41Parkinsons disease_Homo sapiens_hsa050121.07177746
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02507792
43* GnRH signaling pathway_Homo sapiens_hsa049121.00248589
44Alzheimers disease_Homo sapiens_hsa050100.98808273
45Estrogen signaling pathway_Homo sapiens_hsa049150.97443347
46Thyroid hormone signaling pathway_Homo sapiens_hsa049190.93600290
47Long-term depression_Homo sapiens_hsa047300.93119041
48* Serotonergic synapse_Homo sapiens_hsa047260.92121859
49Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.91613135
50Oxidative phosphorylation_Homo sapiens_hsa001900.90826272
51Fatty acid degradation_Homo sapiens_hsa000710.90222153
52Insulin signaling pathway_Homo sapiens_hsa049100.89649173
53Axon guidance_Homo sapiens_hsa043600.89077575
54Pancreatic secretion_Homo sapiens_hsa049720.87100784
55Viral myocarditis_Homo sapiens_hsa054160.86618984
56Fatty acid metabolism_Homo sapiens_hsa012120.84568475
57Melanogenesis_Homo sapiens_hsa049160.83992084
58Phosphatidylinositol signaling system_Homo sapiens_hsa040700.82873916
59Insulin resistance_Homo sapiens_hsa049310.82147277
60Dorso-ventral axis formation_Homo sapiens_hsa043200.81954137
61Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81601999
62Glioma_Homo sapiens_hsa052140.79711755
63Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.79165409
64Longevity regulating pathway - mammal_Homo sapiens_hsa042110.77488297
65Focal adhesion_Homo sapiens_hsa045100.76087278
66Bile secretion_Homo sapiens_hsa049760.74725416
67Phospholipase D signaling pathway_Homo sapiens_hsa040720.71941437
68Platelet activation_Homo sapiens_hsa046110.70250910
69Circadian rhythm_Homo sapiens_hsa047100.70090814
70Carbon metabolism_Homo sapiens_hsa012000.68201691
71Ovarian steroidogenesis_Homo sapiens_hsa049130.67785471
72ErbB signaling pathway_Homo sapiens_hsa040120.66670060
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.65576749
74Butanoate metabolism_Homo sapiens_hsa006500.64893640
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63446362
76mTOR signaling pathway_Homo sapiens_hsa041500.62945652
77ABC transporters_Homo sapiens_hsa020100.61077304
78Huntingtons disease_Homo sapiens_hsa050160.60399569
79Tight junction_Homo sapiens_hsa045300.59698701
80Hedgehog signaling pathway_Homo sapiens_hsa043400.57882042
81AMPK signaling pathway_Homo sapiens_hsa041520.57455406
82Rap1 signaling pathway_Homo sapiens_hsa040150.56449239
83Hippo signaling pathway_Homo sapiens_hsa043900.56357364
84Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55172817
85Thyroid hormone synthesis_Homo sapiens_hsa049180.54781390
86* MAPK signaling pathway_Homo sapiens_hsa040100.54440635
87AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.53992188
88Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53887883
89Lysine degradation_Homo sapiens_hsa003100.51684138
90Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.51528724
91PI3K-Akt signaling pathway_Homo sapiens_hsa041510.51477092
92VEGF signaling pathway_Homo sapiens_hsa043700.50692825
93Endometrial cancer_Homo sapiens_hsa052130.50348890
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49925787
95Phototransduction_Homo sapiens_hsa047440.48843774
96Renal cell carcinoma_Homo sapiens_hsa052110.48743737
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.47608572
98Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47510849
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47424512
100ECM-receptor interaction_Homo sapiens_hsa045120.47112178
101Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.46754441
102Inositol phosphate metabolism_Homo sapiens_hsa005620.46752928
103HIF-1 signaling pathway_Homo sapiens_hsa040660.46638470
104PPAR signaling pathway_Homo sapiens_hsa033200.46283748
105Adherens junction_Homo sapiens_hsa045200.46027065
106Ras signaling pathway_Homo sapiens_hsa040140.45835825
107Melanoma_Homo sapiens_hsa052180.44832304
108Central carbon metabolism in cancer_Homo sapiens_hsa052300.43855631
109Neurotrophin signaling pathway_Homo sapiens_hsa047220.43607233
110Choline metabolism in cancer_Homo sapiens_hsa052310.43589530
111Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41275524
112Amoebiasis_Homo sapiens_hsa051460.39770420
113Oocyte meiosis_Homo sapiens_hsa041140.39439938
114Pyruvate metabolism_Homo sapiens_hsa006200.38945699
115Proteoglycans in cancer_Homo sapiens_hsa052050.38450684
116Wnt signaling pathway_Homo sapiens_hsa043100.37157651
117Glycosaminoglycan degradation_Homo sapiens_hsa005310.34287001
118Prion diseases_Homo sapiens_hsa050200.33465258
119Mineral absorption_Homo sapiens_hsa049780.32875674
120TGF-beta signaling pathway_Homo sapiens_hsa043500.31907465

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »