SLC4A3

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: The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1muscle filament sliding (GO:0030049)5.36535795
2actin-myosin filament sliding (GO:0033275)5.36535795
3ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.16945577
4cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.83156729
5regulation of short-term neuronal synaptic plasticity (GO:0048172)4.75572893
6cardiac muscle tissue morphogenesis (GO:0055008)4.73575806
7regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.73481716
8regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.51184585
9synaptic vesicle maturation (GO:0016188)4.49598880
10membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.48850309
11cell communication by electrical coupling (GO:0010644)4.48074501
12regulation of synapse structural plasticity (GO:0051823)4.43678508
13positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.43385260
14cardiac myofibril assembly (GO:0055003)4.39258687
15vocalization behavior (GO:0071625)4.37358469
16actin-mediated cell contraction (GO:0070252)4.36919872
17heart contraction (GO:0060047)4.36214143
18heart process (GO:0003015)4.36214143
19muscle hypertrophy (GO:0014896)4.34425097
20locomotory exploration behavior (GO:0035641)4.32815946
21positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.29014280
22bundle of His cell to Purkinje myocyte communication (GO:0086069)4.27495948
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.26033868
24muscle tissue morphogenesis (GO:0060415)4.22691750
25negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.16398147
26positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.14326500
27negative regulation of potassium ion transmembrane transport (GO:1901380)4.13975347
28regulation of heart rate (GO:0002027)4.13092025
29regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.12637343
30cell communication involved in cardiac conduction (GO:0086065)4.09879684
31sarcomere organization (GO:0045214)4.05364727
32regulation of cardioblast differentiation (GO:0051890)3.99712657
33regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.97336224
34cardiac chamber formation (GO:0003207)3.95653846
35regulation of membrane repolarization (GO:0060306)3.93932844
36negative regulation of cytosolic calcium ion concentration (GO:0051481)3.92947250
37synaptic vesicle exocytosis (GO:0016079)3.92763729
38regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.92050261
39cardiac muscle contraction (GO:0060048)3.90669274
40cardiac muscle hypertrophy in response to stress (GO:0014898)3.86166294
41muscle hypertrophy in response to stress (GO:0003299)3.86166294
42cardiac muscle adaptation (GO:0014887)3.86166294
43response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.84480871
44plasma membrane repair (GO:0001778)3.82606571
45regulation of heart contraction (GO:0008016)3.80235942
46positive regulation of action potential (GO:0045760)3.76021270
47regulation of glutamate receptor signaling pathway (GO:1900449)3.74489874
48synaptic vesicle docking involved in exocytosis (GO:0016081)3.73947016
49cardiac ventricle formation (GO:0003211)3.70496253
50cardiac cell development (GO:0055006)3.68362492
51cellular response to epinephrine stimulus (GO:0071872)3.65934480
52glutamate secretion (GO:0014047)3.65224885
53myofibril assembly (GO:0030239)3.64498371
54layer formation in cerebral cortex (GO:0021819)3.59332196
55regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.57817328
56detection of calcium ion (GO:0005513)3.55651125
57regulation of ATP catabolic process (GO:1903289)3.52249095
58regulation of ATPase activity (GO:0043462)3.52249095
59activation of protein kinase A activity (GO:0034199)3.50959251
60regulation of synaptic vesicle exocytosis (GO:2000300)3.49915746
61regulation of cell communication by electrical coupling (GO:0010649)3.47685739
62positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.46341510
63regulation of actin filament-based movement (GO:1903115)3.43945601
64positive regulation of potassium ion transmembrane transport (GO:1901381)3.42773730
65ventricular cardiac muscle cell action potential (GO:0086005)3.39697793
66sodium ion export (GO:0071436)3.39410716
67protein localization to synapse (GO:0035418)3.37861721
68positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.35653244
69dendritic spine morphogenesis (GO:0060997)3.34361555
70regulation of calcium ion transmembrane transporter activity (GO:1901019)3.34129201
71regulation of calcium ion transmembrane transport (GO:1903169)3.34129201
72neurotransmitter secretion (GO:0007269)3.32317199
73response to epinephrine (GO:0071871)3.31094845
74actin filament-based movement (GO:0030048)3.30784013
75adrenergic receptor signaling pathway (GO:0071875)3.25729443
76negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.24695248
77cardiac conduction (GO:0061337)3.22934816
78regulation of neuronal synaptic plasticity (GO:0048168)3.22395811
79neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.22049517
80ionotropic glutamate receptor signaling pathway (GO:0035235)3.21971018
81exploration behavior (GO:0035640)3.21605692
82neuronal action potential propagation (GO:0019227)3.20243331
83regulation of synaptic vesicle transport (GO:1902803)3.19518277
84regulation of long-term neuronal synaptic plasticity (GO:0048169)3.19500796
85cellular potassium ion homeostasis (GO:0030007)3.18264098
86positive regulation of ATPase activity (GO:0032781)3.17574793
87positive regulation of ATP catabolic process (GO:1903291)3.17574793
88potassium ion import (GO:0010107)3.16446471
89positive regulation of heart rate (GO:0010460)3.16002172
90membrane depolarization during action potential (GO:0086010)3.15801582
91regulation of relaxation of muscle (GO:1901077)3.15497757
92positive regulation of sodium ion transport (GO:0010765)3.13402779
93cellular response to catecholamine stimulus (GO:0071870)3.13169091
94cellular response to monoamine stimulus (GO:0071868)3.13169091
95sarcoplasmic reticulum calcium ion transport (GO:0070296)3.11375357
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.11036910
97calcium-mediated signaling using intracellular calcium source (GO:0035584)3.08685173
98relaxation of cardiac muscle (GO:0055119)3.07871770
99neuron cell-cell adhesion (GO:0007158)3.07857428
100regulation of voltage-gated calcium channel activity (GO:1901385)3.06330180
101regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.05499521
102neurotransmitter-gated ion channel clustering (GO:0072578)3.02301439
103regulation of heart rate by cardiac conduction (GO:0086091)3.02293661
104cardiac muscle hypertrophy (GO:0003300)2.97882652
105long-term memory (GO:0007616)2.97624317
106cardiac muscle cell action potential involved in contraction (GO:0086002)2.96432054
107cardiac muscle cell action potential (GO:0086001)2.96202142
108adult heart development (GO:0007512)2.95819270
109regulation of cardiac muscle cell contraction (GO:0086004)2.95769940
110potassium ion export (GO:0071435)2.95582015
111regulation of the force of heart contraction (GO:0002026)2.95395206
112membrane repolarization (GO:0086009)2.92789684
113membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.92365551
114striated muscle contraction (GO:0006941)2.90544920
115regulation of striated muscle contraction (GO:0006942)2.90160201
116glutamate receptor signaling pathway (GO:0007215)2.90066173
117regulation of dendritic spine morphogenesis (GO:0061001)2.89667743
118synaptic transmission, glutamatergic (GO:0035249)2.89554039
119positive regulation of heart contraction (GO:0045823)2.87561015
120striatum development (GO:0021756)2.86839429
121response to catecholamine (GO:0071869)2.86315600
122response to monoamine (GO:0071867)2.86315600
123positive regulation of potassium ion transport (GO:0043268)2.86286691
124multicellular organismal signaling (GO:0035637)2.86037717
125cardiac muscle cell development (GO:0055013)2.85906136
126striated muscle hypertrophy (GO:0014897)2.85370838
127regulation of excitatory postsynaptic membrane potential (GO:0060079)2.85068152
128response to inactivity (GO:0014854)2.84561221
129regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.84482356
130auditory behavior (GO:0031223)2.83069401
131regulation of cation channel activity (GO:2001257)2.82956351
132positive regulation of cation channel activity (GO:2001259)2.82527560
133neuronal ion channel clustering (GO:0045161)2.82292624
134negative regulation of potassium ion transport (GO:0043267)2.82180908
135gamma-aminobutyric acid transport (GO:0015812)2.82155502
136muscle contraction (GO:0006936)2.81888738
137regulation of cardiac muscle contraction (GO:0055117)2.81072595
138neuron-neuron synaptic transmission (GO:0007270)2.80950413
139regulation of muscle contraction (GO:0006937)2.80522415
140actomyosin structure organization (GO:0031032)2.80114797
141neuron recognition (GO:0008038)2.78577386
142positive regulation of synapse maturation (GO:0090129)2.77852531

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.70868697
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00311585
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90252392
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79146114
5DROSHA_22980978_ChIP-Seq_HELA_Human2.71551089
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.68134028
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.68134028
8GBX2_23144817_ChIP-Seq_PC3_Human2.59788395
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.53292224
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.49733616
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.48102522
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.48003594
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45059229
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37517319
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.33681360
16EZH2_27294783_Chip-Seq_ESCs_Mouse2.29216906
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28348340
18REST_21632747_ChIP-Seq_MESCs_Mouse2.26907375
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20471659
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.10639700
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10537269
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.10219801
23EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.02653943
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.97441127
25ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.95190997
26EP300_21415370_ChIP-Seq_HL-1_Mouse1.88772205
27TRIM28_21343339_ChIP-Seq_HEK293_Human1.81368724
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.80059050
29AR_21572438_ChIP-Seq_LNCaP_Human1.56453852
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.49235448
31MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.48451543
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.47827307
33PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.43709900
34* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.41685184
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.40956858
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.38901353
37ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.38799103
38DNAJC2_21179169_ChIP-ChIP_NT2_Human1.38126187
39* RING1B_27294783_Chip-Seq_ESCs_Mouse1.36858535
40ZNF274_21170338_ChIP-Seq_K562_Hela1.35957251
41RARG_19884340_ChIP-ChIP_MEFs_Mouse1.35599828
42SMAD4_21799915_ChIP-Seq_A2780_Human1.34678840
43GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.32227703
44KDM2B_26808549_Chip-Seq_K562_Human1.31462994
45ESR1_20079471_ChIP-ChIP_T-47D_Human1.30514464
46NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29694941
47CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.29031657
48* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28626766
49* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.28306265
50* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.27902605
51EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.27576803
52CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27575514
53PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.24850412
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24469081
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22342813
56* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.22272391
57AR_19668381_ChIP-Seq_PC3_Human1.21096130
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.19831255
59PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.19451261
60CTBP1_25329375_ChIP-Seq_LNCAP_Human1.16304023
61* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14678547
62CTCF_27219007_Chip-Seq_Bcells_Human1.14596525
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13810893
64EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.12144579
65* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.10621648
66ISL1_27105846_Chip-Seq_CPCs_Mouse1.10089307
67NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.08582273
68* TBX20_22328084_ChIP-Seq_HEART_Mouse1.08433265
69* TBX20_22080862_ChIP-Seq_HEART_Mouse1.08433265
70SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07025742
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05626375
72SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05457162
73TP53_23651856_ChIP-Seq_MEFs_Mouse1.05311608
74GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04374563
75ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04266114
76TAF15_26573619_Chip-Seq_HEK293_Human1.03830185
77SMC4_20622854_ChIP-Seq_HELA_Human1.03309966
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02715064
79SMAD3_21741376_ChIP-Seq_HESCs_Human1.01557106
80THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.01468034
81* RING1B_27294783_Chip-Seq_NPCs_Mouse1.01456439
82PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.00750620
83* SMAD3_21741376_ChIP-Seq_EPCs_Human1.00606031
84SMAD4_21741376_ChIP-Seq_HESCs_Human1.00364415
85KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99334653
86* AHR_22903824_ChIP-Seq_MCF-7_Human0.99162237
87TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98825575
88CBX2_27304074_Chip-Seq_ESCs_Mouse0.97626825
89NFIB_24661679_ChIP-Seq_LUNG_Mouse0.95609031
90* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94898533
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94545381
92STAT3_23295773_ChIP-Seq_U87_Human0.94402562
93* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94286167
94* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93963528
95* LXR_22292898_ChIP-Seq_THP-1_Human0.93627720
96P53_22127205_ChIP-Seq_FIBROBLAST_Human0.93151813
97* ARNT_22903824_ChIP-Seq_MCF-7_Human0.93132879
98* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.92525363
99BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90812386
100* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90533993
101ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.90374032
102RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89142875
103DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.88492843
104STAT6_21828071_ChIP-Seq_BEAS2B_Human0.88031111
105TET1_21490601_ChIP-Seq_MESCs_Mouse0.87555550
106* AR_25329375_ChIP-Seq_VCAP_Human0.86767727
107OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.86082490
108NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86018420
109OCT4_19829295_ChIP-Seq_ESCs_Human0.85776593
110* TCF4_23295773_ChIP-Seq_U87_Human0.85652993
111CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85596021
112* PIAS1_25552417_ChIP-Seq_VCAP_Human0.85329995
113* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.84935668
114* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.84113223
115TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.83034817
116TP53_16413492_ChIP-PET_HCT116_Human0.82946681
117ZNF263_19887448_ChIP-Seq_K562_Human0.82805316
118CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.82525595
119CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.82251656
120* FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82203799
121ESR2_21235772_ChIP-Seq_MCF-7_Human0.82014427
122TP53_20018659_ChIP-ChIP_R1E_Mouse0.80596863
123ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.78115142

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.69354545
2MP0002837_dystrophic_cardiac_calcinosis4.62479814
3MP0000751_myopathy3.87195018
4MP0004084_abnormal_cardiac_muscle3.34609238
5MP0004215_abnormal_myocardial_fiber3.30670615
6MP0003646_muscle_fatigue3.27286442
7MP0003880_abnormal_central_pattern3.17012200
8MP0003635_abnormal_synaptic_transmissio3.05464629
9MP0002822_catalepsy2.90187710
10MP0004036_abnormal_muscle_relaxation2.59839798
11MP0004270_analgesia2.50890116
12* MP0009745_abnormal_behavioral_response2.41275350
13MP0002063_abnormal_learning/memory/cond2.33709090
14MP0003137_abnormal_impulse_conducting2.30758794
15MP0009046_muscle_twitch2.29257541
16* MP0002064_seizures2.20672035
17MP0005330_cardiomyopathy2.16380200
18MP0002909_abnormal_adrenal_gland2.08435806
19MP0000749_muscle_degeneration2.06491082
20MP0005670_abnormal_white_adipose2.03824721
21MP0005423_abnormal_somatic_nervous2.01246782
22MP0004085_abnormal_heartbeat1.96019173
23MP0004145_abnormal_muscle_electrophysio1.92753112
24MP0002972_abnormal_cardiac_muscle1.92158062
25MP0002572_abnormal_emotion/affect_behav1.91749821
26MP0002272_abnormal_nervous_system1.91600630
27MP0001968_abnormal_touch/_nociception1.81841712
28MP0001486_abnormal_startle_reflex1.81667519
29MP0005620_abnormal_muscle_contractility1.78271236
30MP0004087_abnormal_muscle_fiber1.77695961
31MP0004484_altered_response_of1.77608952
32MP0009780_abnormal_chondrocyte_physiolo1.76882523
33MP0002734_abnormal_mechanical_nocicepti1.76566760
34MP0008775_abnormal_heart_ventricle1.73358176
35MP0004130_abnormal_muscle_cell1.59425721
36MP0008569_lethality_at_weaning1.58661665
37MP0001440_abnormal_grooming_behavior1.53974958
38MP0004924_abnormal_behavior1.53397004
39MP0005386_behavior/neurological_phenoty1.53397004
40MP0004233_abnormal_muscle_weight1.51894845
41MP0006138_congestive_heart_failure1.45388961
42MP0001501_abnormal_sleep_pattern1.44801332
43MP0002106_abnormal_muscle_physiology1.43641374
44MP0001544_abnormal_cardiovascular_syste1.43143856
45MP0005385_cardiovascular_system_phenoty1.43143856
46MP0004510_myositis1.41419362
47MP0000747_muscle_weakness1.38535190
48MP0002067_abnormal_sensory_capabilities1.38344995
49MP0002735_abnormal_chemical_nociception1.36932566
50MP0001970_abnormal_pain_threshold1.36401194
51MP0002269_muscular_atrophy1.32507905
52MP0003329_amyloid_beta_deposits1.30839571
53MP0004858_abnormal_nervous_system1.30810427
54MP0000750_abnormal_muscle_regeneration1.29246837
55MP0002733_abnormal_thermal_nociception1.28383696
56MP0010368_abnormal_lymphatic_system1.27869560
57MP0010630_abnormal_cardiac_muscle1.27182405
58MP0002736_abnormal_nociception_after1.26797965
59MP0005165_increased_susceptibility_to1.25890599
60MP0002184_abnormal_innervation1.25753953
61MP0005369_muscle_phenotype1.22981498
62MP0000013_abnormal_adipose_tissue1.19605961
63MP0004811_abnormal_neuron_physiology1.19228904
64MP0002557_abnormal_social/conspecific_i1.18984490
65MP0000759_abnormal_skeletal_muscle1.18146469
66MP0000778_abnormal_nervous_system1.17954012
67MP0005623_abnormal_meninges_morphology1.13880504
68MP0003283_abnormal_digestive_organ1.12248005
69MP0003879_abnormal_hair_cell1.11408697
70MP0001529_abnormal_vocalization1.11380212
71MP0002234_abnormal_pharynx_morphology1.07585764
72MP0002066_abnormal_motor_capabilities/c1.07307943
73MP0000955_abnormal_spinal_cord1.07100905
74MP0003279_aneurysm1.06742591
75MP0008961_abnormal_basal_metabolism1.02767756
76MP0006276_abnormal_autonomic_nervous1.02747235
77MP0003633_abnormal_nervous_system1.00322297
78* MP0002882_abnormal_neuron_morphology1.00085940
79MP0005646_abnormal_pituitary_gland0.97752715
80MP0000579_abnormal_nail_morphology0.93806225
81MP0005409_darkened_coat_color0.92202901
82MP0001502_abnormal_circadian_rhythm0.91198763
83MP0001984_abnormal_olfaction0.89267723
84MP0003122_maternal_imprinting0.87610104
85MP0002127_abnormal_cardiovascular_syste0.86945358
86MP0004142_abnormal_muscle_tone0.86772387
87MP0002332_abnormal_exercise_endurance0.82742214
88MP0004885_abnormal_endolymph0.82045572
89MP0005666_abnormal_adipose_tissue0.81557962
90MP0005535_abnormal_body_temperature0.80531765
91MP0000266_abnormal_heart_morphology0.80054002
92MP0004043_abnormal_pH_regulation0.78579112
93MP0009384_cardiac_valve_regurgitation0.77947692
94MP0003631_nervous_system_phenotype0.76891483
95MP0003221_abnormal_cardiomyocyte_apopto0.76869339
96MP0001905_abnormal_dopamine_level0.76400681
97MP0002152_abnormal_brain_morphology0.75578475
98MP0005187_abnormal_penis_morphology0.74177015
99MP0008874_decreased_physiological_sensi0.74146488
100MP0002229_neurodegeneration0.71811534
101MP0005503_abnormal_tendon_morphology0.69936468
102MP0000230_abnormal_systemic_arterial0.69688188
103MP0008004_abnormal_stomach_pH0.68429800
104MP0003828_pulmonary_edema0.67558612
105MP0002295_abnormal_pulmonary_circulatio0.66717225
106* MP0005551_abnormal_eye_electrophysiolog0.66093716
107MP0001958_emphysema0.65795968
108MP0004272_abnormal_basement_membrane0.64790385
109MP0001299_abnormal_eye_distance/0.64108983
110MP0000920_abnormal_myelination0.63821334
111MP0005167_abnormal_blood-brain_barrier0.62624985
112MP0005375_adipose_tissue_phenotype0.62412368
113MP0005645_abnormal_hypothalamus_physiol0.62333053
114MP0000003_abnormal_adipose_tissue0.62299987
115MP0002069_abnormal_eating/drinking_beha0.62211787
116MP0002108_abnormal_muscle_morphology0.62028619
117MP0003950_abnormal_plasma_membrane0.61687852
118* MP0003634_abnormal_glial_cell0.60348229
119MP0000343_altered_response_to0.54651648
120MP0002128_abnormal_blood_circulation0.53042273
121MP0003690_abnormal_glial_cell0.52262752

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.22529554
2Atrial fibrillation (HP:0005110)4.88259262
3Focal motor seizures (HP:0011153)4.74247211
4Myokymia (HP:0002411)4.70002016
5Primary atrial arrhythmia (HP:0001692)4.68204182
6Supraventricular tachycardia (HP:0004755)4.47001668
7Bundle branch block (HP:0011710)4.44746946
8Calf muscle hypertrophy (HP:0008981)4.39366900
9Supraventricular arrhythmia (HP:0005115)4.37067937
10Prolonged QT interval (HP:0001657)4.34040640
11Ventricular fibrillation (HP:0001663)4.30976483
12Syncope (HP:0001279)4.28479685
13Ventricular tachycardia (HP:0004756)4.11873948
14Exercise-induced myalgia (HP:0003738)4.05246705
15Muscle hypertrophy of the lower extremities (HP:0008968)4.01384947
16Abnormality of the calf musculature (HP:0001430)3.90785940
17Focal seizures (HP:0007359)3.79367602
18Visual hallucinations (HP:0002367)3.73658465
19Distal lower limb muscle weakness (HP:0009053)3.60128106
20Abnormal EKG (HP:0003115)3.56428442
21Ventricular arrhythmia (HP:0004308)3.43305253
22Heart block (HP:0012722)3.41136943
23Exercise-induced muscle cramps (HP:0003710)3.32683795
24Muscle fiber splitting (HP:0003555)3.24714078
25Atrioventricular block (HP:0001678)3.21755000
26Abnormal atrioventricular conduction (HP:0005150)3.15951326
27Hyporeflexia of lower limbs (HP:0002600)3.12479340
28Lipoatrophy (HP:0100578)3.03930060
29Myotonia (HP:0002486)2.98033038
30Abnormality of the left ventricular outflow tract (HP:0011103)2.95316899
31Subaortic stenosis (HP:0001682)2.95316899
32Right ventricular cardiomyopathy (HP:0011663)2.94756026
33Dysmetric saccades (HP:0000641)2.87239400
34EMG: myopathic abnormalities (HP:0003458)2.83645310
35Epileptic encephalopathy (HP:0200134)2.83034216
36Palpitations (HP:0001962)2.81390893
37Difficulty running (HP:0009046)2.78095917
38Pheochromocytoma (HP:0002666)2.69304979
39Progressive cerebellar ataxia (HP:0002073)2.68475762
40Depression (HP:0000716)2.62689833
41Poor eye contact (HP:0000817)2.62654556
42Myoglobinuria (HP:0002913)2.60700509
43Action tremor (HP:0002345)2.57159932
44Febrile seizures (HP:0002373)2.56539432
45Dilated cardiomyopathy (HP:0001644)2.55668257
46Lower limb amyotrophy (HP:0007210)2.55247671
47Generalized tonic-clonic seizures (HP:0002069)2.53611188
48Dysdiadochokinesis (HP:0002075)2.52915946
49Anxiety (HP:0000739)2.51363583
50Left ventricular hypertrophy (HP:0001712)2.50834186
51Atonic seizures (HP:0010819)2.50113544
52Impaired social interactions (HP:0000735)2.49891346
53Abnormal social behavior (HP:0012433)2.49891346
54Absence seizures (HP:0002121)2.47955964
55Ankle clonus (HP:0011448)2.47238133
56Broad-based gait (HP:0002136)2.42094981
57Increased variability in muscle fiber diameter (HP:0003557)2.38776837
58Central scotoma (HP:0000603)2.34933831
59Ragged-red muscle fibers (HP:0003200)2.33055900
60Asymmetric septal hypertrophy (HP:0001670)2.33044713
61Hypoplastic left heart (HP:0004383)2.32543575
62Supranuclear gaze palsy (HP:0000605)2.30264697
63Neuroendocrine neoplasm (HP:0100634)2.27472818
64Urinary bladder sphincter dysfunction (HP:0002839)2.27410592
65Postural instability (HP:0002172)2.27238834
66Impaired vibration sensation in the lower limbs (HP:0002166)2.26815450
67Palmoplantar keratoderma (HP:0000982)2.26570985
68Centrally nucleated skeletal muscle fibers (HP:0003687)2.25750348
69Dialeptic seizures (HP:0011146)2.22876052
70Type 1 muscle fiber predominance (HP:0003803)2.17933291
71Mildly elevated creatine phosphokinase (HP:0008180)2.14409112
72Scapular winging (HP:0003691)2.12961935
73Gaze-evoked nystagmus (HP:0000640)2.12608255
74Congenital malformation of the right heart (HP:0011723)2.12488166
75Double outlet right ventricle (HP:0001719)2.12488166
76Dysmetria (HP:0001310)2.12114922
77Neck muscle weakness (HP:0000467)2.11042932
78Rapidly progressive (HP:0003678)2.10934908
79Urinary urgency (HP:0000012)2.08126299
80Difficulty climbing stairs (HP:0003551)2.07943522
81Frequent falls (HP:0002359)2.04296156
82Genetic anticipation (HP:0003743)2.04119990
83Increased connective tissue (HP:0009025)2.02707287
84Distal lower limb amyotrophy (HP:0008944)1.99942384
85Abnormality of skeletal muscle fiber size (HP:0012084)1.94213130
86Truncal ataxia (HP:0002078)1.92563662
87Limb-girdle muscle atrophy (HP:0003797)1.90655876
88Abnormality of the tricuspid valve (HP:0001702)1.89853396
89Hemiplegia (HP:0002301)1.88338821
90Bradycardia (HP:0001662)1.88124426
91Testicular atrophy (HP:0000029)1.86139830
92Athetosis (HP:0002305)1.85633957
93Steppage gait (HP:0003376)1.85426608
94Torticollis (HP:0000473)1.85343804
95Resting tremor (HP:0002322)1.82379757
96Abnormality of the foot musculature (HP:0001436)1.81078017
97Hypoplastic heart (HP:0001961)1.80750976
98Abnormality of the lower motor neuron (HP:0002366)1.79449423
99Congestive heart failure (HP:0001635)1.76869148
100Obstructive sleep apnea (HP:0002870)1.76468886
101Progressive inability to walk (HP:0002505)1.76299237
102Neoplasm of the peripheral nervous system (HP:0100007)1.76145668
103Foot dorsiflexor weakness (HP:0009027)1.76032912
104Papilledema (HP:0001085)1.75842149
105Lower limb muscle weakness (HP:0007340)1.73241858
106Lymphangioma (HP:0100764)1.73034987
107Ketoacidosis (HP:0001993)1.72730173
108Hemiparesis (HP:0001269)1.72192795
109Mutism (HP:0002300)1.72045055
110Hamartoma of the eye (HP:0010568)1.72039264
111Amblyopia (HP:0000646)1.70953102
112Abnormal eating behavior (HP:0100738)1.70615780
113Anomalous pulmonary venous return (HP:0010772)1.68225537
114Skin nodule (HP:0200036)1.67595241
115Insidious onset (HP:0003587)1.65121727
116Termporal pattern (HP:0011008)1.65121727
117Scanning speech (HP:0002168)1.64864819
118Areflexia of lower limbs (HP:0002522)1.64463502
119Sudden cardiac death (HP:0001645)1.63855344
120EMG: neuropathic changes (HP:0003445)1.63223486
121Pointed chin (HP:0000307)1.60678620
122Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.58779901
123Rimmed vacuoles (HP:0003805)1.57753124
124Abnormality of the salivary glands (HP:0010286)1.57598045
125Abnormal ventriculo-arterial connection (HP:0011563)1.55302148
126Transposition of the great arteries (HP:0001669)1.55302148
127Abnormal connection of the cardiac segments (HP:0011545)1.55302148
128Aneurysm (HP:0002617)1.54924850
129Generalized muscle weakness (HP:0003324)1.50387825
130Preauricular pit (HP:0004467)1.49535949
131Periauricular skin pits (HP:0100277)1.49535949
132Cerebral aneurysm (HP:0004944)1.48785242
133Upper limb amyotrophy (HP:0009129)1.47902829
134Distal upper limb amyotrophy (HP:0007149)1.47902829
135Slow progression (HP:0003677)1.45523146
136Turricephaly (HP:0000262)1.43589232

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA43.58468028
2NTRK33.23154920
3PHKG22.88602744
4PHKG12.88602744
5MAP3K92.83405002
6LMTK22.74356085
7MARK12.72892729
8MAP3K42.41252349
9TTN2.32559152
10DAPK22.09388428
11PAK62.05355223
12PRKD32.01127941
13MINK11.99220159
14DMPK1.91429063
15NTRK21.84459830
16CAMKK11.66478193
17STK381.64231197
18PINK11.62944191
19MYLK1.60214355
20KSR21.59890198
21NTRK11.58742980
22MAP2K71.53474161
23PAK31.51237406
24PDK41.51159954
25PDK31.51159954
26TRIB31.43625185
27OBSCN1.37283727
28MAP2K41.36663065
29NEK11.32651710
30MUSK1.32407822
31CDK51.28218391
32RIPK11.23342816
33KSR11.19848029
34MAP3K51.16715251
35TAOK11.15683242
36CDC42BPA1.14113436
37UHMK11.11495873
38MAP3K61.11473538
39PKN21.11056081
40CAMK2D1.09839402
41TNIK1.08232728
42CAMK2A1.07653362
43CAMK11.07616756
44LIMK11.05254057
45TYRO31.03096721
46SIK21.02175366
47LATS20.98705329
48PRKCH0.97225484
49GRK50.96687540
50STK110.90489884
51CAMKK20.89761007
52MAPK130.86201901
53WNK10.85649307
54PRKD10.85474940
55RET0.84768306
56DAPK10.83045801
57PRKCG0.82602476
58EPHA30.82239804
59PIK3CA0.81946474
60CAMK40.81725556
61EPHB10.81483128
62GRK70.81187263
63CAMK1G0.79797986
64ROCK10.78483590
65DAPK30.78399597
66PNCK0.78277084
67MARK20.75908380
68MAPKAPK30.74995682
69PDGFRA0.74617668
70WNK40.74545581
71FES0.74249775
72MAP3K70.73759774
73PRPF4B0.71659304
74TIE10.71268998
75PLK20.71036452
76SGK4940.70872931
77SGK2230.70872931
78PKN10.69728019
79PTK2B0.68494372
80ALK0.68409393
81RIPK40.68361644
82PDK20.67431805
83SGK10.66924232
84PDPK10.66593663
85MAP3K120.66042935
86SGK30.65828301
87ROCK20.64954213
88MAP3K20.63087637
89MAPK120.62486637
90EPHB20.62119881
91RPS6KL10.60950891
92RPS6KC10.60950891
93ICK0.59480601
94CAMK2B0.59163635
95PDK10.57448321
96SGK20.57257763
97MAPK40.56449266
98FER0.55462967
99CDK150.55086594
100CDK180.54537846
101RPS6KA30.54397761
102MAP3K10.54059715
103TRPM70.53301773
104TESK10.53122233
105CASK0.51547116
106PRKAA10.51291211
107CAMK2G0.51214368
108MAPK100.51210076
109CDK140.50395893
110ERBB20.50183709
111RPS6KA60.49198977
112PTK20.49085521
113PRKACG0.48540994
114ARAF0.48350269
115NEK90.47829095
116DDR20.45918248
117* PRKCE0.45460079
118CDK11A0.45243546
119PRKG10.44962803
120STK40.44631261
121RPS6KA20.44452206
122PRKACA0.43445791
123DYRK1A0.42358737
124MAPK70.42167475
125PRKAA20.40923497
126PRKG20.37869734

Predicted pathways (KEGG)

RankGene SetZ-score
1Cardiac muscle contraction_Homo sapiens_hsa042602.69791097
2Nicotine addiction_Homo sapiens_hsa050332.64975095
3Dilated cardiomyopathy_Homo sapiens_hsa054142.40462699
4Synaptic vesicle cycle_Homo sapiens_hsa047212.37882907
5Circadian entrainment_Homo sapiens_hsa047132.35586912
6Olfactory transduction_Homo sapiens_hsa047402.29236763
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.28936832
8GABAergic synapse_Homo sapiens_hsa047272.23426477
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.20062177
10Morphine addiction_Homo sapiens_hsa050322.10945981
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.10411056
12Glutamatergic synapse_Homo sapiens_hsa047242.02293594
13Long-term potentiation_Homo sapiens_hsa047201.98917998
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.96540155
15Insulin secretion_Homo sapiens_hsa049111.92584064
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.91714397
17Amphetamine addiction_Homo sapiens_hsa050311.89468380
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.81065954
19Salivary secretion_Homo sapiens_hsa049701.73989385
20Dopaminergic synapse_Homo sapiens_hsa047281.73083679
21Gastric acid secretion_Homo sapiens_hsa049711.72890249
22Cholinergic synapse_Homo sapiens_hsa047251.71519154
23Renin secretion_Homo sapiens_hsa049241.64236286
24Oxytocin signaling pathway_Homo sapiens_hsa049211.63823379
25Calcium signaling pathway_Homo sapiens_hsa040201.60210385
26Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.57548293
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.53513003
28Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.50706341
29Taste transduction_Homo sapiens_hsa047421.49555294
30Cocaine addiction_Homo sapiens_hsa050301.46461963
31Type II diabetes mellitus_Homo sapiens_hsa049301.36867833
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35152809
33Parkinsons disease_Homo sapiens_hsa050121.31720262
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.30371195
35cAMP signaling pathway_Homo sapiens_hsa040241.29792269
36Gap junction_Homo sapiens_hsa045401.25597733
37GnRH signaling pathway_Homo sapiens_hsa049121.25200340
38Serotonergic synapse_Homo sapiens_hsa047261.20686347
39Oxidative phosphorylation_Homo sapiens_hsa001901.19769430
40Alzheimers disease_Homo sapiens_hsa050101.18435956
41Long-term depression_Homo sapiens_hsa047301.14070846
42Vascular smooth muscle contraction_Homo sapiens_hsa042701.05927885
43Estrogen signaling pathway_Homo sapiens_hsa049151.03098725
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.99978277
45ECM-receptor interaction_Homo sapiens_hsa045120.95113047
46Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.94422856
47Axon guidance_Homo sapiens_hsa043600.91065465
48Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89134926
49Melanogenesis_Homo sapiens_hsa049160.87871262
50Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87375938
51Glucagon signaling pathway_Homo sapiens_hsa049220.85987689
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.84528764
53Glioma_Homo sapiens_hsa052140.83633143
54Phosphatidylinositol signaling system_Homo sapiens_hsa040700.83126615
55Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79992116
56Dorso-ventral axis formation_Homo sapiens_hsa043200.79748971
57Collecting duct acid secretion_Homo sapiens_hsa049660.79745040
58Pancreatic secretion_Homo sapiens_hsa049720.79363924
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.74494032
60Arginine and proline metabolism_Homo sapiens_hsa003300.74373002
61Huntingtons disease_Homo sapiens_hsa050160.73647486
62Insulin signaling pathway_Homo sapiens_hsa049100.72111171
63Propanoate metabolism_Homo sapiens_hsa006400.71059622
64Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.70851346
65ErbB signaling pathway_Homo sapiens_hsa040120.70182635
66PPAR signaling pathway_Homo sapiens_hsa033200.69589726
67Butanoate metabolism_Homo sapiens_hsa006500.69144180
68Prion diseases_Homo sapiens_hsa050200.67117298
69Phenylalanine metabolism_Homo sapiens_hsa003600.65130353
70Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.62930873
71Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58896092
72MAPK signaling pathway_Homo sapiens_hsa040100.58525090
73Nitrogen metabolism_Homo sapiens_hsa009100.57869916
74Phototransduction_Homo sapiens_hsa047440.57457947
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.56777767
76Thyroid hormone synthesis_Homo sapiens_hsa049180.55888260
77Arginine biosynthesis_Homo sapiens_hsa002200.54489209
78VEGF signaling pathway_Homo sapiens_hsa043700.54032795
79Circadian rhythm_Homo sapiens_hsa047100.53881359
80Adherens junction_Homo sapiens_hsa045200.53814930
81Oocyte meiosis_Homo sapiens_hsa041140.52936892
82Carbon metabolism_Homo sapiens_hsa012000.52815535
83Ovarian steroidogenesis_Homo sapiens_hsa049130.51959133
84mTOR signaling pathway_Homo sapiens_hsa041500.51678566
85Renal cell carcinoma_Homo sapiens_hsa052110.51044001
86Fatty acid metabolism_Homo sapiens_hsa012120.50928786
87Amoebiasis_Homo sapiens_hsa051460.50598300
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48703712
89Choline metabolism in cancer_Homo sapiens_hsa052310.47950698
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.47905989
91Rap1 signaling pathway_Homo sapiens_hsa040150.47866565
92Vibrio cholerae infection_Homo sapiens_hsa051100.47661961
93Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.47461571
94Fatty acid degradation_Homo sapiens_hsa000710.47114771
95Insulin resistance_Homo sapiens_hsa049310.45581536
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45450320
97Bile secretion_Homo sapiens_hsa049760.44876736
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.44793959
99Tight junction_Homo sapiens_hsa045300.42367944
100Viral myocarditis_Homo sapiens_hsa054160.42128081
101Ras signaling pathway_Homo sapiens_hsa040140.41789859
102AMPK signaling pathway_Homo sapiens_hsa041520.41390337
103Focal adhesion_Homo sapiens_hsa045100.37592146
104Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.37528138
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.37448305
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37147685
107Inositol phosphate metabolism_Homo sapiens_hsa005620.36482269
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.36061339
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35560290
110Fatty acid biosynthesis_Homo sapiens_hsa000610.35111235
111Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.32100171
112Hippo signaling pathway_Homo sapiens_hsa043900.28742705
113Endometrial cancer_Homo sapiens_hsa052130.28676401
114Pyruvate metabolism_Homo sapiens_hsa006200.28079704

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