CHRM3

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 muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.13019369
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.55244516
3vocalization behavior (GO:0071625)5.45042952
4locomotory exploration behavior (GO:0035641)5.40900237
5synaptic vesicle maturation (GO:0016188)5.40464575
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.34114538
7synaptic vesicle exocytosis (GO:0016079)5.22157357
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.16631019
9regulation of synaptic vesicle exocytosis (GO:2000300)5.15395907
10synaptic vesicle docking involved in exocytosis (GO:0016081)5.11342819
11glutamate secretion (GO:0014047)5.09468999
12regulation of glutamate receptor signaling pathway (GO:1900449)4.89713307
13ionotropic glutamate receptor signaling pathway (GO:0035235)4.73417613
14protein localization to synapse (GO:0035418)4.65203536
15regulation of synaptic vesicle transport (GO:1902803)4.59872158
16neuronal action potential propagation (GO:0019227)4.54216850
17neuron cell-cell adhesion (GO:0007158)4.50624474
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.44035117
19regulation of neuronal synaptic plasticity (GO:0048168)4.37341828
20exploration behavior (GO:0035640)4.31882139
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.30481112
22synaptic transmission, glutamatergic (GO:0035249)4.28026489
23glutamate receptor signaling pathway (GO:0007215)4.21424695
24neurotransmitter-gated ion channel clustering (GO:0072578)4.08024751
25neurotransmitter secretion (GO:0007269)4.06267052
26layer formation in cerebral cortex (GO:0021819)3.95079249
27dendritic spine morphogenesis (GO:0060997)3.92130761
28neuron-neuron synaptic transmission (GO:0007270)3.90620448
29positive regulation of membrane potential (GO:0045838)3.89429637
30epithelial cell differentiation involved in kidney development (GO:0035850)3.87341529
31long-term memory (GO:0007616)3.87320521
32negative regulation of cytosolic calcium ion concentration (GO:0051481)3.83455317
33regulation of excitatory postsynaptic membrane potential (GO:0060079)3.80776984
34proline transport (GO:0015824)3.73016955
35positive regulation of synapse maturation (GO:0090129)3.69368861
36regulation of synaptic plasticity (GO:0048167)3.64222908
37regulation of postsynaptic membrane potential (GO:0060078)3.63318114
38gamma-aminobutyric acid signaling pathway (GO:0007214)3.62911096
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.61983622
40neuron recognition (GO:0008038)3.59849420
41long-term synaptic potentiation (GO:0060291)3.58064492
42presynaptic membrane assembly (GO:0097105)3.57938321
43regulation of synapse structural plasticity (GO:0051823)3.56602753
44synaptic vesicle endocytosis (GO:0048488)3.52653846
45innervation (GO:0060384)3.51734601
46auditory behavior (GO:0031223)3.49460369
47chemosensory behavior (GO:0007635)3.47837646
48activation of protein kinase A activity (GO:0034199)3.47766276
49L-amino acid import (GO:0043092)3.47551535
50regulation of female receptivity (GO:0045924)3.46044473
51regulation of dendritic spine morphogenesis (GO:0061001)3.44185574
52postsynaptic membrane organization (GO:0001941)3.40809145
53cellular potassium ion homeostasis (GO:0030007)3.40220777
54detection of calcium ion (GO:0005513)3.38920560
55neurotransmitter transport (GO:0006836)3.32633256
56regulation of neurotransmitter secretion (GO:0046928)3.32362583
57regulation of vesicle fusion (GO:0031338)3.31490793
58dendritic spine organization (GO:0097061)3.30998465
59sleep (GO:0030431)3.30007063
60opioid receptor signaling pathway (GO:0038003)3.29457777
61presynaptic membrane organization (GO:0097090)3.28567208
62positive regulation of neurotransmitter secretion (GO:0001956)3.23897096
63negative regulation of synaptic transmission, GABAergic (GO:0032229)3.20559050
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.19704937
65axonal fasciculation (GO:0007413)3.19376484
66gamma-aminobutyric acid transport (GO:0015812)3.18249299
67regulation of synaptic transmission, glutamatergic (GO:0051966)3.15968037
68long term synaptic depression (GO:0060292)3.15696778
69adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.15211838
70negative regulation of dendrite morphogenesis (GO:0050774)3.15111778
71positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.12700431
72cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.10431059
73transmission of nerve impulse (GO:0019226)3.09552300
74serotonin metabolic process (GO:0042428)3.09515798
75cerebellar Purkinje cell differentiation (GO:0021702)3.06619207
76regulation of ARF protein signal transduction (GO:0032012)3.06009302
77startle response (GO:0001964)3.04895894
78regulation of voltage-gated calcium channel activity (GO:1901385)3.04543958
79sodium ion export (GO:0071436)3.04430012
80regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.04193668
81potassium ion import (GO:0010107)3.04101740
82response to histamine (GO:0034776)3.03404547
83positive regulation of dendritic spine morphogenesis (GO:0061003)3.01632875
84regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.01625479
85* G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.00815005
86membrane depolarization (GO:0051899)2.99623687
87regulation of neurotransmitter levels (GO:0001505)2.98370113
88glycosphingolipid biosynthetic process (GO:0006688)2.98271531
89negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.98190339
90positive regulation of synaptic transmission, GABAergic (GO:0032230)2.97864992
91C4-dicarboxylate transport (GO:0015740)2.97404357
92cerebellar granule cell differentiation (GO:0021707)2.96812740
93urinary tract smooth muscle contraction (GO:0014848)2.96359088
94regulation of neurotransmitter transport (GO:0051588)2.95453077
95positive regulation of neurotransmitter transport (GO:0051590)2.95199215
96mechanosensory behavior (GO:0007638)2.94236544
97cell migration in hindbrain (GO:0021535)2.94210629
98neuromuscular process controlling balance (GO:0050885)2.93924127
99regulation of calcium ion-dependent exocytosis (GO:0017158)2.93633636
100G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.93461864
101behavioral defense response (GO:0002209)2.93351502
102behavioral fear response (GO:0001662)2.93351502
103positive regulation of synaptic transmission (GO:0050806)2.93198871
104regulation of synaptic transmission (GO:0050804)2.93124875
105regulation of dendritic spine development (GO:0060998)2.92767103
106learning (GO:0007612)2.92169358
107vesicle transport along microtubule (GO:0047496)2.91853427
108dendrite morphogenesis (GO:0048813)2.89340061
109fear response (GO:0042596)2.88948337
110neurofilament cytoskeleton organization (GO:0060052)2.88419382
111positive regulation of dendritic spine development (GO:0060999)2.88020867
112cochlea development (GO:0090102)2.87741785
113regulation of synapse maturation (GO:0090128)2.87368565
114response to auditory stimulus (GO:0010996)2.87357624
115synaptic transmission (GO:0007268)2.86842334
116regulation of exocytosis (GO:0017157)2.86571878
117neuronal ion channel clustering (GO:0045161)2.85662563
118regulation of cilium movement (GO:0003352)2.84294992
119membrane depolarization during action potential (GO:0086010)2.83451830
120cerebellar Purkinje cell layer development (GO:0021680)2.83108912
121aggressive behavior (GO:0002118)2.82091227
122female mating behavior (GO:0060180)2.81272434
123intraspecies interaction between organisms (GO:0051703)2.80879761
124social behavior (GO:0035176)2.80879761
125positive regulation of exocytosis (GO:0045921)2.79771814
126synapse assembly (GO:0007416)2.79658286
127acidic amino acid transport (GO:0015800)2.76822939
128central nervous system projection neuron axonogenesis (GO:0021952)2.75435426
129neuromuscular process (GO:0050905)2.73699050
130primary amino compound metabolic process (GO:1901160)2.72213919
131negative regulation of dendrite development (GO:2000171)2.71674437

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.23909861
2GBX2_23144817_ChIP-Seq_PC3_Human3.76260630
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.00523275
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.95311591
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85085532
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.77487820
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52124012
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52124012
9* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.51196638
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.51006852
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47999123
12RARB_27405468_Chip-Seq_BRAIN_Mouse2.47869344
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.44025085
14DROSHA_22980978_ChIP-Seq_HELA_Human2.43058869
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.37685156
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36683782
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.31589808
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.17869225
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.14465486
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.14044804
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.13232539
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.12243532
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.97009266
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.85713278
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83164429
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.79942363
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.78366562
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.78069961
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73142695
30SMAD4_21799915_ChIP-Seq_A2780_Human1.70726642
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69856803
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.68146931
33TAF15_26573619_Chip-Seq_HEK293_Human1.67956882
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58094895
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.56520052
36AR_21572438_ChIP-Seq_LNCaP_Human1.52727150
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.47083171
38ZNF274_21170338_ChIP-Seq_K562_Hela1.46756277
39NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44391282
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.42492735
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40651830
42* P300_19829295_ChIP-Seq_ESCs_Human1.40438874
43PIAS1_25552417_ChIP-Seq_VCAP_Human1.36049498
44* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34955671
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34531113
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33463627
47IGF1R_20145208_ChIP-Seq_DFB_Human1.31494549
48* SMAD3_21741376_ChIP-Seq_EPCs_Human1.31363499
49ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30399017
50* STAT3_23295773_ChIP-Seq_U87_Human1.30238123
51AR_25329375_ChIP-Seq_VCAP_Human1.28104196
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.27913749
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24213437
54CDX2_19796622_ChIP-Seq_MESCs_Mouse1.23068970
55GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22642974
56RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22570604
57CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22171971
58RING1B_27294783_Chip-Seq_ESCs_Mouse1.21077801
59AR_19668381_ChIP-Seq_PC3_Human1.20187880
60* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19005685
61EWS_26573619_Chip-Seq_HEK293_Human1.17102683
62* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.16228561
63TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16223434
64TCF4_23295773_ChIP-Seq_U87_Human1.15907492
65RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14713011
66POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14649906
67PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13690831
68EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12959775
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.12122711
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.12120932
71CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.11883371
72BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11858923
73PCGF2_27294783_Chip-Seq_ESCs_Mouse1.11775220
74* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.10544417
75E2F1_18555785_Chip-Seq_ESCs_Mouse1.09961420
76* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.09887034
77KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08700595
78LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08647252
79IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07254872
80CBP_20019798_ChIP-Seq_JUKART_Human1.07254872
81ER_23166858_ChIP-Seq_MCF-7_Human1.07244828
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.07096264
83P53_22387025_ChIP-Seq_ESCs_Mouse1.06680937
84HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.06139167
85* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05429168
86PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.05241831
87AHR_22903824_ChIP-Seq_MCF-7_Human1.03532843
88GATA1_26923725_Chip-Seq_HPCs_Mouse1.02833228
89* FLI1_21867929_ChIP-Seq_TH2_Mouse1.02695413
90* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02691485
91CMYC_18555785_Chip-Seq_ESCs_Mouse1.02603850
92STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02489339
93KDM2B_26808549_Chip-Seq_REH_Human1.01947752
94FUS_26573619_Chip-Seq_HEK293_Human1.00528656
95RING1B_27294783_Chip-Seq_NPCs_Mouse1.00424124
96P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99882865
97TP53_16413492_ChIP-PET_HCT116_Human0.99518587
98* RUNX2_22187159_ChIP-Seq_PCA_Human0.99358014
99DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98112040
100MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97461661
101* SMAD3_21741376_ChIP-Seq_ESCs_Human0.96977594
102* SMAD3_21741376_ChIP-Seq_HESCs_Human0.96929394
103* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95936847
104* BCAT_22108803_ChIP-Seq_LS180_Human0.94826042
105RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94186637
106NANOG_18555785_Chip-Seq_ESCs_Mouse0.92547507
107* RNF2_27304074_Chip-Seq_NSC_Mouse0.91995585
108* PRDM14_20953172_ChIP-Seq_ESCs_Human0.91845534
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91324259
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91324259
111* SMAD4_21741376_ChIP-Seq_HESCs_Human0.91202656
112TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90993947
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.89973221
114UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89867129
115* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.89136822
116KDM2B_26808549_Chip-Seq_K562_Human0.88209981
117MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.88030223
118RXR_22108803_ChIP-Seq_LS180_Human0.86957144
119VDR_22108803_ChIP-Seq_LS180_Human0.86639707
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85703100

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.80207572
2MP0003880_abnormal_central_pattern4.83953452
3* MP0003635_abnormal_synaptic_transmissio4.13861111
4MP0004270_analgesia3.97690912
5* MP0002063_abnormal_learning/memory/cond3.32394743
6MP0009745_abnormal_behavioral_response3.31664707
7MP0002064_seizures3.02879604
8MP0009780_abnormal_chondrocyte_physiolo2.99843337
9MP0002572_abnormal_emotion/affect_behav2.74157691
10MP0001968_abnormal_touch/_nociception2.71876206
11MP0002734_abnormal_mechanical_nocicepti2.55110330
12MP0009046_muscle_twitch2.54123971
13MP0001486_abnormal_startle_reflex2.45676912
14MP0005423_abnormal_somatic_nervous2.45117800
15* MP0002272_abnormal_nervous_system2.37157103
16MP0002909_abnormal_adrenal_gland2.36714041
17* MP0001501_abnormal_sleep_pattern2.18899778
18MP0002736_abnormal_nociception_after2.10466830
19MP0002822_catalepsy2.00125009
20MP0002735_abnormal_chemical_nociception1.96918509
21MP0001440_abnormal_grooming_behavior1.94276102
22MP0005646_abnormal_pituitary_gland1.88969993
23MP0002733_abnormal_thermal_nociception1.85886253
24MP0002067_abnormal_sensory_capabilities1.82386423
25MP0001970_abnormal_pain_threshold1.81581749
26MP0003879_abnormal_hair_cell1.80459616
27MP0003787_abnormal_imprinting1.79172948
28MP0003283_abnormal_digestive_organ1.70249485
29MP0004858_abnormal_nervous_system1.69333199
30MP0008877_abnormal_DNA_methylation1.67870538
31MP0008569_lethality_at_weaning1.67721241
32MP0004811_abnormal_neuron_physiology1.64250889
33MP0002557_abnormal_social/conspecific_i1.63539156
34MP0002184_abnormal_innervation1.60670086
35MP0003329_amyloid_beta_deposits1.60636576
36MP0000778_abnormal_nervous_system1.53280875
37MP0002837_dystrophic_cardiac_calcinosis1.51152521
38MP0005386_behavior/neurological_phenoty1.45767673
39MP0004924_abnormal_behavior1.45767673
40MP0000955_abnormal_spinal_cord1.43256206
41MP0004885_abnormal_endolymph1.39288790
42MP0000013_abnormal_adipose_tissue1.35780554
43MP0003633_abnormal_nervous_system1.34807226
44MP0002066_abnormal_motor_capabilities/c1.32951545
45MP0006276_abnormal_autonomic_nervous1.32925628
46MP0004043_abnormal_pH_regulation1.30926764
47MP0002882_abnormal_neuron_morphology1.28680701
48MP0001502_abnormal_circadian_rhythm1.24188963
49MP0003121_genomic_imprinting1.19073155
50MP0005645_abnormal_hypothalamus_physiol1.17589749
51* MP0010386_abnormal_urinary_bladder1.16797066
52MP0001984_abnormal_olfaction1.15862036
53MP0001188_hyperpigmentation1.08086881
54* MP0002693_abnormal_pancreas_physiology1.04550841
55MP0008961_abnormal_basal_metabolism1.03551912
56MP0003631_nervous_system_phenotype1.02873980
57* MP0005535_abnormal_body_temperature1.01750394
58MP0004510_myositis1.01067192
59MP0004145_abnormal_muscle_electrophysio1.00898952
60MP0003122_maternal_imprinting0.98256176
61* MP0002069_abnormal_eating/drinking_beha0.97859767
62MP0002152_abnormal_brain_morphology0.97473221
63MP0002876_abnormal_thyroid_physiology0.95237109
64MP0001944_abnormal_pancreas_morphology0.93754708
65MP0003172_abnormal_lysosome_physiology0.90249545
66MP0002229_neurodegeneration0.90087210
67MP0003119_abnormal_digestive_system0.89564554
68MP0001905_abnormal_dopamine_level0.88216844
69MP0005379_endocrine/exocrine_gland_phen0.87978605
70MP0003690_abnormal_glial_cell0.87627918
71MP0003075_altered_response_to0.87171993
72MP0005551_abnormal_eye_electrophysiolog0.87149110
73MP0000639_abnormal_adrenal_gland0.86837479
74MP0003183_abnormal_peptide_metabolism0.85222329
75MP0000631_abnormal_neuroendocrine_gland0.85104977
76MP0000920_abnormal_myelination0.84588501
77MP0004085_abnormal_heartbeat0.84351834
78MP0001529_abnormal_vocalization0.83819655
79MP0004133_heterotaxia0.83301569
80MP0001765_abnormal_ion_homeostasis0.81490630
81MP0001177_atelectasis0.81162496
82MP0000678_abnormal_parathyroid_gland0.80448852
83MP0006072_abnormal_retinal_apoptosis0.79183428
84* MP0001664_abnormal_digestion0.79018514
85MP0001963_abnormal_hearing_physiology0.78959285
86MP0002234_abnormal_pharynx_morphology0.78958250
87MP0008874_decreased_physiological_sensi0.77950264
88MP0000566_synostosis0.76430713
89MP0008872_abnormal_physiological_respon0.76136822
90MP0005187_abnormal_penis_morphology0.75105824
91MP0004142_abnormal_muscle_tone0.74870666
92MP0004742_abnormal_vestibular_system0.73551762
93MP0003890_abnormal_embryonic-extraembry0.73057533
94MP0000569_abnormal_digit_pigmentation0.73008822
95MP0004484_altered_response_of0.72810006
96MP0005167_abnormal_blood-brain_barrier0.72648580
97MP0005253_abnormal_eye_physiology0.72077235
98MP0010234_abnormal_vibrissa_follicle0.70869688
99MP0003634_abnormal_glial_cell0.70505414
100MP0002638_abnormal_pupillary_reflex0.70142911
101* MP0002078_abnormal_glucose_homeostasis0.68848687
102MP0002090_abnormal_vision0.67284049
103MP0001485_abnormal_pinna_reflex0.66572283
104MP0003868_abnormal_feces_composition0.65152722
105MP0002877_abnormal_melanocyte_morpholog0.64914465
106MP0000604_amyloidosis0.63645673
107MP0010769_abnormal_survival0.63619060
108MP0010770_preweaning_lethality0.63040249
109MP0002082_postnatal_lethality0.63040249
110* MP0003953_abnormal_hormone_level0.60662605
111MP0010768_mortality/aging0.60412511
112MP0003861_abnormal_nervous_system0.60307459
113MP0004215_abnormal_myocardial_fiber0.60276889
114MP0003942_abnormal_urinary_system0.58849515
115MP0006292_abnormal_olfactory_placode0.58560054
116MP0003632_abnormal_nervous_system0.57747977
117MP0002752_abnormal_somatic_nervous0.56951088
118MP0002160_abnormal_reproductive_system0.54958533
119MP0003137_abnormal_impulse_conducting0.54285875
120MP0002751_abnormal_autonomic_nervous0.53614834
121MP0001346_abnormal_lacrimal_gland0.52724987
122MP0005195_abnormal_posterior_eye0.52640222

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.16642101
2Myokymia (HP:0002411)5.97015116
3Focal seizures (HP:0007359)5.65953783
4Visual hallucinations (HP:0002367)5.60101956
5Atonic seizures (HP:0010819)4.97212257
6Epileptic encephalopathy (HP:0200134)4.93299378
7Absence seizures (HP:0002121)4.46720752
8Febrile seizures (HP:0002373)4.40907869
9Progressive cerebellar ataxia (HP:0002073)4.23821766
10Generalized tonic-clonic seizures (HP:0002069)4.13353319
11Dialeptic seizures (HP:0011146)4.10869825
12Abnormality of the corticospinal tract (HP:0002492)3.96948386
13Hyperventilation (HP:0002883)3.93219211
14Degeneration of the lateral corticospinal tracts (HP:0002314)3.87470665
15Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.87470665
16Limb dystonia (HP:0002451)3.65241117
17Broad-based gait (HP:0002136)3.42156665
18Supranuclear gaze palsy (HP:0000605)3.40428773
19Gait imbalance (HP:0002141)3.36679005
20Action tremor (HP:0002345)3.31374580
21Epileptiform EEG discharges (HP:0011182)3.27383024
22Depression (HP:0000716)3.21196790
23Amblyopia (HP:0000646)3.20350801
24Poor eye contact (HP:0000817)3.15254464
25Papilledema (HP:0001085)3.15061730
26Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.10371132
27Impaired vibration sensation in the lower limbs (HP:0002166)3.09734471
28Gaze-evoked nystagmus (HP:0000640)3.09561954
29EEG with generalized epileptiform discharges (HP:0011198)3.07405163
30Anxiety (HP:0000739)3.05298985
31Medial flaring of the eyebrow (HP:0010747)2.94688274
32True hermaphroditism (HP:0010459)2.94682870
33Truncal ataxia (HP:0002078)2.91044221
34Impaired social interactions (HP:0000735)2.90202147
35Abnormal social behavior (HP:0012433)2.90202147
36Drooling (HP:0002307)2.89683079
37Excessive salivation (HP:0003781)2.89683079
38Decreased circulating renin level (HP:0003351)2.89460072
39Dysmetria (HP:0001310)2.88154866
40Anomalous pulmonary venous return (HP:0010772)2.88046238
41Hypsarrhythmia (HP:0002521)2.86154811
42Amyotrophic lateral sclerosis (HP:0007354)2.85671340
43Dysdiadochokinesis (HP:0002075)2.85516482
44Ankle clonus (HP:0011448)2.83078932
45Cerebral inclusion bodies (HP:0100314)2.80336689
46Gonadal dysgenesis (HP:0000133)2.77677486
47Congenital primary aphakia (HP:0007707)2.77120569
48Impaired smooth pursuit (HP:0007772)2.71980921
49Urinary bladder sphincter dysfunction (HP:0002839)2.67971276
50Postural instability (HP:0002172)2.64313999
51Genetic anticipation (HP:0003743)2.63640573
52Neurofibrillary tangles (HP:0002185)2.63060469
53Absent speech (HP:0001344)2.58313668
54Testicular neoplasm (HP:0010788)2.57073438
55Abnormal eating behavior (HP:0100738)2.56961135
56Hemiparesis (HP:0001269)2.55912203
57Nephrogenic diabetes insipidus (HP:0009806)2.53755854
58Agitation (HP:0000713)2.51788008
59Ventricular fibrillation (HP:0001663)2.51185258
60Bradykinesia (HP:0002067)2.49542115
61Abnormality of the pulmonary veins (HP:0011718)2.48185883
62Vaginal atresia (HP:0000148)2.47556067
63Abnormality of binocular vision (HP:0011514)2.43378549
64Diplopia (HP:0000651)2.43378549
65Genital tract atresia (HP:0001827)2.42430571
66Mutism (HP:0002300)2.40886912
67Blue irides (HP:0000635)2.40568553
68Abnormality of the lower motor neuron (HP:0002366)2.27325125
69Abnormality of ocular smooth pursuit (HP:0000617)2.25787305
70Mesangial abnormality (HP:0001966)2.25343635
71Stereotypic behavior (HP:0000733)2.24274819
72Impaired vibratory sensation (HP:0002495)2.20630301
73Polyphagia (HP:0002591)2.20478834
74Hemiplegia (HP:0002301)2.19267495
75Progressive inability to walk (HP:0002505)2.17220105
76Spastic gait (HP:0002064)2.17214116
77Ulnar claw (HP:0001178)2.17136694
78Protruding tongue (HP:0010808)2.17076928
79Hyperinsulinemic hypoglycemia (HP:0000825)2.16615361
80Chronic hepatic failure (HP:0100626)2.15879935
81Neuroendocrine neoplasm (HP:0100634)2.15797829
82Scanning speech (HP:0002168)2.13804241
83Focal dystonia (HP:0004373)2.12800664
84Morphological abnormality of the pyramidal tract (HP:0002062)2.11372869
85Generalized myoclonic seizures (HP:0002123)2.11130425
86Intention tremor (HP:0002080)2.11009696
87Paraplegia (HP:0010550)2.10136525
88Megalencephaly (HP:0001355)2.09473322
89Specific learning disability (HP:0001328)2.09326342
90Torticollis (HP:0000473)2.08689514
91Inability to walk (HP:0002540)2.07482149
92Termporal pattern (HP:0011008)2.06176083
93Insidious onset (HP:0003587)2.06176083
94Hypothermia (HP:0002045)2.02806563
95Status epilepticus (HP:0002133)2.01685753
96Bundle branch block (HP:0011710)2.00242584
97Spastic tetraplegia (HP:0002510)1.99651641
98Tetraplegia (HP:0002445)1.98498800
99Urinary urgency (HP:0000012)1.96471652
100Generalized hypopigmentation of hair (HP:0011358)1.96120706
101Type II lissencephaly (HP:0007260)1.93732772
102Poor coordination (HP:0002370)1.93377087
103Gait ataxia (HP:0002066)1.92372158
104Nephronophthisis (HP:0000090)1.88100875
105Increased circulating renin level (HP:0000848)1.87718179
106Spastic paraplegia (HP:0001258)1.86493222
107Delusions (HP:0000746)1.86162961
108Dysmetric saccades (HP:0000641)1.85841700
109Fetal akinesia sequence (HP:0001989)1.85703853
110Psychosis (HP:0000709)1.85166206
111Retinal dysplasia (HP:0007973)1.83715179
112Clonus (HP:0002169)1.82959042
113Pheochromocytoma (HP:0002666)1.82912055
114Abnormality of calcium-phosphate metabolism (HP:0100530)1.80703811
115Hyperactive renin-angiotensin system (HP:0000841)1.80570698
116Resting tremor (HP:0002322)1.80509498
117Cerebral hypomyelination (HP:0006808)1.79797722
118Akinesia (HP:0002304)1.79451906
119Ankyloglossia (HP:0010296)1.77710063
120Craniofacial dystonia (HP:0012179)1.76620522
121* Abnormality of salivation (HP:0100755)1.76385159
122Incomplete penetrance (HP:0003829)1.76335814
123Widely spaced teeth (HP:0000687)1.74556508
124Male pseudohermaphroditism (HP:0000037)1.73993557
125Neuronal loss in central nervous system (HP:0002529)1.73857848
126Abnormal EKG (HP:0003115)1.73642046
127Abnormality of renin-angiotensin system (HP:0000847)1.73396146
128Hypoglycemic seizures (HP:0002173)1.72033800
129Lower limb muscle weakness (HP:0007340)1.71603081
130Abnormal ventriculo-arterial connection (HP:0011563)1.71453690
131Transposition of the great arteries (HP:0001669)1.71453690
132Abnormal connection of the cardiac segments (HP:0011545)1.71453690
133Symptomatic seizures (HP:0011145)1.70597329
134Central scotoma (HP:0000603)1.69766074
135Rapidly progressive (HP:0003678)1.69522513
136Thickened helices (HP:0000391)1.66693963
137Inappropriate behavior (HP:0000719)1.66464605
138Pancreatic cysts (HP:0001737)1.61372626
139Syncope (HP:0001279)1.57319349

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.70832137
2EPHA44.48088436
3MAP3K93.62990933
4NEK13.56180241
5MAP3K42.98932386
6PRKD32.81812616
7DAPK22.75083297
8MAP4K22.63628946
9MAP2K72.58809624
10RIPK42.58770119
11MARK12.41023720
12MINK12.34131463
13PAK62.18897418
14KSR22.06754293
15CASK1.97333082
16NTRK11.93174686
17MAP2K41.88619341
18ADRBK21.79592055
19CAMKK11.79249077
20MAP3K121.76020517
21DAPK11.75042901
22NTRK21.57322085
23CDK51.53882824
24PLK21.51970521
25MAP3K21.51105157
26INSRR1.47067851
27GRK51.46762404
28KSR11.45631846
29BMPR21.33234809
30STK381.29947021
31TNIK1.27876621
32CDK191.25966337
33SIK21.22497241
34FES1.22222743
35PRPF4B1.21408468
36PNCK1.19485357
37PRKCG1.17912544
38CCNB11.15102462
39NME11.10461008
40ARAF1.10313708
41MAP3K131.04643051
42CAMK2A1.04497767
43MAPK131.03209478
44MAP3K11.00212132
45UHMK10.97960429
46CAMK10.97275630
47CAMKK20.95608924
48PTK2B0.95600005
49CAMK2B0.94629916
50PRKCH0.93857598
51STK390.90399988
52STK110.89185465
53TYRO30.89124476
54RET0.87548814
55RAF10.83828948
56CSNK1G10.80134980
57TAOK10.78710060
58OXSR10.75250103
59PDK10.74798878
60PAK30.73748830
61DYRK1A0.72269374
62SGK4940.69862939
63SGK2230.69862939
64RIPK10.68629779
65PDPK10.68477778
66AKT30.68350829
67FER0.68085754
68SGK10.67541065
69CSNK1G30.67450222
70PLK40.66785189
71MARK20.64336068
72CDK180.63843486
73NEK20.63778397
74CDK150.63739882
75SGK20.63591567
76PRKCE0.63104847
77LMTK20.62871312
78DYRK20.62624303
79ALK0.61215100
80CAMK40.61162768
81FGR0.61003395
82CDC42BPA0.60734062
83BMPR1B0.60493892
84CDK140.60429561
85TAOK30.60070552
86HIPK20.59293205
87MAP3K70.58895072
88SGK30.57900241
89CSNK1G20.57267774
90LATS20.56287075
91PINK10.56091186
92DMPK0.55438214
93EIF2AK30.54891220
94CDK11A0.53792885
95NEK60.53255701
96CAMK1G0.53243181
97CAMK2D0.52492187
98CSNK1A10.51980769
99MAPKAPK50.50880772
100WNK40.49415177
101ADRBK10.48571234
102WNK30.48243532
103CSNK1E0.48200790
104FRK0.48043966
105PRKCZ0.47362377
106RPS6KA30.44630461
107TNK20.44496962
108CSNK1A1L0.44248361
109MAP2K10.43557753
110PHKG10.42907510
111PHKG20.42907510
112PRKACA0.42358696
113MAP3K60.42349257
114RPS6KB10.42049354
115MAPK120.41937573
116MUSK0.41059652
117PRKG10.40789726
118BCR0.40182465
119FYN0.38347925
120FGFR20.38283955
121PRKD20.38194140
122MAPK100.37966285
123SCYL20.37457309
124ACVR1B0.37394868
125PRKCA0.36179464
126CAMK2G0.34949880
127PRKCB0.34625529
128TIE10.34333015
129PIK3CG0.32466643
130CSNK1D0.32311765
131PRKACB0.31650369

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.54754639
2Synaptic vesicle cycle_Homo sapiens_hsa047213.02514869
3Long-term potentiation_Homo sapiens_hsa047202.79932789
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.68261374
5Circadian entrainment_Homo sapiens_hsa047132.67542518
6Amphetamine addiction_Homo sapiens_hsa050312.59078689
7GABAergic synapse_Homo sapiens_hsa047272.52711362
8Glutamatergic synapse_Homo sapiens_hsa047242.51968209
9* Insulin secretion_Homo sapiens_hsa049112.51316878
10Olfactory transduction_Homo sapiens_hsa047402.40864892
11Morphine addiction_Homo sapiens_hsa050322.37332425
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20244479
13* Salivary secretion_Homo sapiens_hsa049702.18761259
14Dopaminergic synapse_Homo sapiens_hsa047282.09794898
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.95572227
16* Taste transduction_Homo sapiens_hsa047421.84633909
17* Cholinergic synapse_Homo sapiens_hsa047251.80835101
18* Gastric acid secretion_Homo sapiens_hsa049711.78150212
19Renin secretion_Homo sapiens_hsa049241.73948795
20Type II diabetes mellitus_Homo sapiens_hsa049301.63007239
21Serotonergic synapse_Homo sapiens_hsa047261.61743378
22Long-term depression_Homo sapiens_hsa047301.57385693
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55832415
24Oxytocin signaling pathway_Homo sapiens_hsa049211.55117085
25Cocaine addiction_Homo sapiens_hsa050301.54832666
26Collecting duct acid secretion_Homo sapiens_hsa049661.54161260
27* Calcium signaling pathway_Homo sapiens_hsa040201.54082564
28GnRH signaling pathway_Homo sapiens_hsa049121.44150681
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39700328
30Maturity onset diabetes of the young_Homo sapiens_hsa049501.37079281
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29744807
32cAMP signaling pathway_Homo sapiens_hsa040241.24540662
33Vibrio cholerae infection_Homo sapiens_hsa051101.24143976
34Gap junction_Homo sapiens_hsa045401.23516059
35* Pancreatic secretion_Homo sapiens_hsa049721.22910617
36Estrogen signaling pathway_Homo sapiens_hsa049151.22692438
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20187256
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19578643
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16356887
40Glioma_Homo sapiens_hsa052141.14157777
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13665710
42Vascular smooth muscle contraction_Homo sapiens_hsa042701.07458939
43Melanogenesis_Homo sapiens_hsa049161.04472842
44ErbB signaling pathway_Homo sapiens_hsa040120.99757991
45Carbohydrate digestion and absorption_Homo sapiens_hsa049730.98689216
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98430798
47Nitrogen metabolism_Homo sapiens_hsa009100.98202201
48* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95369707
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91556404
50Dorso-ventral axis formation_Homo sapiens_hsa043200.91367591
51Thyroid hormone synthesis_Homo sapiens_hsa049180.91365200
52Axon guidance_Homo sapiens_hsa043600.88355203
53Type I diabetes mellitus_Homo sapiens_hsa049400.86174939
54Butanoate metabolism_Homo sapiens_hsa006500.81828420
55Glucagon signaling pathway_Homo sapiens_hsa049220.79186776
56Vitamin B6 metabolism_Homo sapiens_hsa007500.76902399
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75867036
58Cardiac muscle contraction_Homo sapiens_hsa042600.72627090
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.70070837
60Choline metabolism in cancer_Homo sapiens_hsa052310.69870738
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68644096
62Ether lipid metabolism_Homo sapiens_hsa005650.67807644
63MAPK signaling pathway_Homo sapiens_hsa040100.65166108
64VEGF signaling pathway_Homo sapiens_hsa043700.65139548
65Oocyte meiosis_Homo sapiens_hsa041140.63761519
66Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.63071673
67Phototransduction_Homo sapiens_hsa047440.61986415
68Dilated cardiomyopathy_Homo sapiens_hsa054140.58401576
69Ras signaling pathway_Homo sapiens_hsa040140.57963981
70Inositol phosphate metabolism_Homo sapiens_hsa005620.56410740
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55628206
72mTOR signaling pathway_Homo sapiens_hsa041500.54706469
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.54024338
74Circadian rhythm_Homo sapiens_hsa047100.53667404
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53642204
76Linoleic acid metabolism_Homo sapiens_hsa005910.52445617
77Rap1 signaling pathway_Homo sapiens_hsa040150.49984891
78beta-Alanine metabolism_Homo sapiens_hsa004100.49968030
79Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.49756804
80Prion diseases_Homo sapiens_hsa050200.47277138
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46899884
82Endometrial cancer_Homo sapiens_hsa052130.46777569
83Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46173561
84Alzheimers disease_Homo sapiens_hsa050100.43757930
85Histidine metabolism_Homo sapiens_hsa003400.43643253
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43544141
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.43185273
88African trypanosomiasis_Homo sapiens_hsa051430.43076175
89Bile secretion_Homo sapiens_hsa049760.42967309
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.42590233
91Insulin signaling pathway_Homo sapiens_hsa049100.42308511
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41684113
93Wnt signaling pathway_Homo sapiens_hsa043100.41298028
94Non-small cell lung cancer_Homo sapiens_hsa052230.39002561
95Protein digestion and absorption_Homo sapiens_hsa049740.37753442
96Regulation of autophagy_Homo sapiens_hsa041400.37598849
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.37546152
98Glycerolipid metabolism_Homo sapiens_hsa005610.36850417
99Renal cell carcinoma_Homo sapiens_hsa052110.36648997
100Propanoate metabolism_Homo sapiens_hsa006400.36640037
101Prolactin signaling pathway_Homo sapiens_hsa049170.35742913
102Endocytosis_Homo sapiens_hsa041440.35155647
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34966116
104Steroid hormone biosynthesis_Homo sapiens_hsa001400.34860920
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33709442
106Ovarian steroidogenesis_Homo sapiens_hsa049130.33013597
107ABC transporters_Homo sapiens_hsa020100.32511694
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32315749
109Alcoholism_Homo sapiens_hsa050340.32233875
110Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.31946511
111Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31744179
112Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.31629434
113Tryptophan metabolism_Homo sapiens_hsa003800.29674942
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.29384973
115Tight junction_Homo sapiens_hsa045300.28931344
116Hedgehog signaling pathway_Homo sapiens_hsa043400.28464714
117Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.27624703
118Chemokine signaling pathway_Homo sapiens_hsa040620.27092422
119Sulfur metabolism_Homo sapiens_hsa009200.25757002
120Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.24700256
121Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.22115225
122Primary bile acid biosynthesis_Homo sapiens_hsa001200.21769656
123Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.21019770

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