ASIC2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.75902316
2vocalization behavior (GO:0071625)5.74608651
3synaptic vesicle exocytosis (GO:0016079)5.44087247
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.37816423
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.27796030
6neuron cell-cell adhesion (GO:0007158)5.14687170
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.04420382
8synaptic vesicle maturation (GO:0016188)5.03097927
9locomotory exploration behavior (GO:0035641)4.97883263
10glutamate secretion (GO:0014047)4.84731670
11regulation of glutamate receptor signaling pathway (GO:1900449)4.83491806
12* protein localization to synapse (GO:0035418)4.70278106
13neuronal action potential propagation (GO:0019227)4.69175812
14regulation of synaptic vesicle exocytosis (GO:2000300)4.66875275
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.62027090
16neurotransmitter secretion (GO:0007269)4.40744550
17cerebellar granule cell differentiation (GO:0021707)4.31923643
18exploration behavior (GO:0035640)4.26692560
19glutamate receptor signaling pathway (GO:0007215)4.26440630
20layer formation in cerebral cortex (GO:0021819)4.25545844
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.20896381
22L-amino acid import (GO:0043092)4.15964052
23regulation of synaptic vesicle transport (GO:1902803)4.12314614
24synaptic vesicle docking involved in exocytosis (GO:0016081)4.11355690
25proline transport (GO:0015824)4.06707632
26synaptic transmission, glutamatergic (GO:0035249)4.02951592
27neuron recognition (GO:0008038)4.02334164
28regulation of long-term neuronal synaptic plasticity (GO:0048169)4.01781869
29regulation of neuronal synaptic plasticity (GO:0048168)4.00191565
30neuron-neuron synaptic transmission (GO:0007270)3.94780863
31gamma-aminobutyric acid transport (GO:0015812)3.88151640
32cellular potassium ion homeostasis (GO:0030007)3.88014655
33dendritic spine morphogenesis (GO:0060997)3.83259408
34regulation of voltage-gated calcium channel activity (GO:1901385)3.82633989
35neurotransmitter transport (GO:0006836)3.75708596
36regulation of synapse maturation (GO:0090128)3.75696845
37positive regulation of dendritic spine morphogenesis (GO:0061003)3.75292037
38positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.74815623
39amino acid import (GO:0043090)3.72492626
40gamma-aminobutyric acid signaling pathway (GO:0007214)3.72464719
41transmission of nerve impulse (GO:0019226)3.67395569
42positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.65894387
43regulation of excitatory postsynaptic membrane potential (GO:0060079)3.64940118
44positive regulation of neurotransmitter secretion (GO:0001956)3.63196385
45regulation of synapse structural plasticity (GO:0051823)3.62600445
46positive regulation of neurotransmitter transport (GO:0051590)3.61027816
47chemosensory behavior (GO:0007635)3.60188714
48long-term memory (GO:0007616)3.57612348
49regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.55944877
50response to histamine (GO:0034776)3.54979161
51regulation of postsynaptic membrane potential (GO:0060078)3.52029120
52potassium ion homeostasis (GO:0055075)3.51906917
53axonal fasciculation (GO:0007413)3.51821227
54neuronal ion channel clustering (GO:0045161)3.50119806
55potassium ion import (GO:0010107)3.48041379
56membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.47538608
57positive regulation of membrane potential (GO:0045838)3.47238687
58neurotransmitter-gated ion channel clustering (GO:0072578)3.47119439
59regulation of vesicle fusion (GO:0031338)3.46619287
60postsynaptic membrane organization (GO:0001941)3.45467878
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.44615668
62serotonin metabolic process (GO:0042428)3.44491122
63regulation of neurotransmitter levels (GO:0001505)3.44410560
64neuromuscular synaptic transmission (GO:0007274)3.44214093
65mechanosensory behavior (GO:0007638)3.41909142
66regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.37390282
67activation of protein kinase A activity (GO:0034199)3.37009873
68regulation of neurotransmitter secretion (GO:0046928)3.34420593
69primary amino compound metabolic process (GO:1901160)3.34394302
70synaptic vesicle endocytosis (GO:0048488)3.33965156
71positive regulation of synaptic transmission, GABAergic (GO:0032230)3.33270262
72negative regulation of dendrite morphogenesis (GO:0050774)3.31204773
73positive regulation of synapse maturation (GO:0090129)3.28716703
74cell migration in hindbrain (GO:0021535)3.26173595
75neuromuscular process (GO:0050905)3.26017286
76regulation of dendritic spine morphogenesis (GO:0061001)3.25613425
77regulation of synaptic plasticity (GO:0048167)3.25199874
78neuromuscular process controlling posture (GO:0050884)3.24530796
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.23862144
80membrane depolarization during action potential (GO:0086010)3.22570201
81positive regulation of vesicle fusion (GO:0031340)3.22177627
82axon ensheathment in central nervous system (GO:0032291)3.21715020
83central nervous system myelination (GO:0022010)3.21715020
84innervation (GO:0060384)3.21390874
85cerebellar Purkinje cell differentiation (GO:0021702)3.21384958
86cellular sodium ion homeostasis (GO:0006883)3.20144923
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.19712322
88presynaptic membrane assembly (GO:0097105)3.19445607
89membrane depolarization (GO:0051899)3.18188065
90sodium ion export (GO:0071436)3.17670085
91synapse assembly (GO:0007416)3.17356706
92startle response (GO:0001964)3.14935721
93social behavior (GO:0035176)3.14916430
94intraspecies interaction between organisms (GO:0051703)3.14916430
95mating behavior (GO:0007617)3.13666991
96cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.12359549
97regulation of neurotransmitter transport (GO:0051588)3.10146104
98negative regulation of microtubule polymerization (GO:0031115)3.08243786
99acidic amino acid transport (GO:0015800)3.07864822
100membrane hyperpolarization (GO:0060081)3.07177151
101long-term synaptic potentiation (GO:0060291)3.05232390
102dendritic spine organization (GO:0097061)3.05162658
103regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.04794638
104calcium ion-dependent exocytosis (GO:0017156)3.03372698
105learning (GO:0007612)3.02797281
106* synaptic transmission (GO:0007268)3.02188848
107neuromuscular process controlling balance (GO:0050885)3.01525368
108dendrite morphogenesis (GO:0048813)2.98683575
109presynaptic membrane organization (GO:0097090)2.97676634
110cell communication by electrical coupling (GO:0010644)2.96598412
111auditory behavior (GO:0031223)2.96474373
112negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.95232001
113response to auditory stimulus (GO:0010996)2.95192543
114positive regulation of dendritic spine development (GO:0060999)2.95094523
115regulation of glutamate secretion (GO:0014048)2.93968160
116regulation of synaptic transmission (GO:0050804)2.91603765
117G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.91075129
118detection of calcium ion (GO:0005513)2.91053686
119regulation of dendritic spine development (GO:0060998)2.89495078
120fear response (GO:0042596)2.88897023
121positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.88840276
122behavioral defense response (GO:0002209)2.88746024
123behavioral fear response (GO:0001662)2.88746024
124synapse organization (GO:0050808)2.88658323
125regulation of respiratory system process (GO:0044065)2.87475110
126behavioral response to cocaine (GO:0048148)2.87410648
127positive regulation of potassium ion transmembrane transport (GO:1901381)2.85787407

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.53195820
2GBX2_23144817_ChIP-Seq_PC3_Human3.52645968
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.26248281
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.26091584
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.17627707
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80426809
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80426809
8REST_21632747_ChIP-Seq_MESCs_Mouse2.79426712
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.76399805
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.73655553
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.66449208
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.64999372
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.60819755
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.57301897
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54170835
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.43381576
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28450029
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.27284059
19TAF15_26573619_Chip-Seq_HEK293_Human2.27202673
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.23653506
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.22693542
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.21617370
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.17864994
24DROSHA_22980978_ChIP-Seq_HELA_Human2.13590357
25IKZF1_21737484_ChIP-ChIP_HCT116_Human2.12397002
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.07247179
27CTBP2_25329375_ChIP-Seq_LNCAP_Human2.00919205
28AR_21572438_ChIP-Seq_LNCaP_Human1.92889096
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88926516
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83407369
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.83046377
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.71691294
33SMAD4_21799915_ChIP-Seq_A2780_Human1.70189647
34RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.67152107
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.65102887
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.62109884
37P300_19829295_ChIP-Seq_ESCs_Human1.55500664
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.53281737
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.52971958
40ZNF274_21170338_ChIP-Seq_K562_Hela1.51619483
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.51342214
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.50662417
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50045081
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47876461
45NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44659055
46EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42861486
47TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37376419
48THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.35535995
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34821501
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34699593
51TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34650516
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.31912156
53RING1B_27294783_Chip-Seq_ESCs_Mouse1.31056123
54IGF1R_20145208_ChIP-Seq_DFB_Human1.31044090
55RNF2_27304074_Chip-Seq_NSC_Mouse1.30649011
56AR_25329375_ChIP-Seq_VCAP_Human1.30342510
57ZFP281_18757296_ChIP-ChIP_E14_Mouse1.29521453
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.29137346
59SOX2_21211035_ChIP-Seq_LN229_Gbm1.29124694
60OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27178952
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.25700687
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22423858
63RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18668624
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.17593473
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17071476
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.16086078
67FUS_26573619_Chip-Seq_HEK293_Human1.15623460
68GATA1_26923725_Chip-Seq_HPCs_Mouse1.15300483
69STAT3_23295773_ChIP-Seq_U87_Human1.14575545
70POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14432196
71VDR_22108803_ChIP-Seq_LS180_Human1.13132950
72AR_19668381_ChIP-Seq_PC3_Human1.11515202
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11153322
74TCF4_23295773_ChIP-Seq_U87_Human1.03307817
75RING1B_27294783_Chip-Seq_NPCs_Mouse1.03254695
76MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02301330
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02211024
78RUNX2_22187159_ChIP-Seq_PCA_Human1.01988603
79CTCF_27219007_Chip-Seq_Bcells_Human1.01852688
80PRDM14_20953172_ChIP-Seq_ESCs_Human1.01437669
81TET1_21490601_ChIP-Seq_MESCs_Mouse1.01385726
82KDM2B_26808549_Chip-Seq_K562_Human1.01150618
83DNAJC2_21179169_ChIP-ChIP_NT2_Human1.01076316
84JUN_21703547_ChIP-Seq_K562_Human1.01051074
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.00422492
86TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.99956946
87AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99644557
88* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98841856
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98606543
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97476136
91OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97466167
92YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97002099
93AHR_22903824_ChIP-Seq_MCF-7_Human0.96170202
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94456663
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94210643
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93816309
97SMAD3_21741376_ChIP-Seq_ESCs_Human0.92279967
98ER_23166858_ChIP-Seq_MCF-7_Human0.92072107
99TP53_20018659_ChIP-ChIP_R1E_Mouse0.92053393
100BCAT_22108803_ChIP-Seq_LS180_Human0.91431431
101POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91386676
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91386676
103LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91032067
104ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89198761
105WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88951814
106TP53_18474530_ChIP-ChIP_U2OS_Human0.88650494
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.87232705
108CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85104198
109FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.84006149
110SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.83335242
111KDM2B_26808549_Chip-Seq_REH_Human0.82827779
112TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.82637424
113NANOG_18555785_Chip-Seq_ESCs_Mouse0.81385659
114CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.81346033
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.80887918
116CBP_20019798_ChIP-Seq_JUKART_Human0.80080122
117IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.80080122
118SMAD4_21741376_ChIP-Seq_EPCs_Human0.79743455
119EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.78899523
120RUNX1_26923725_Chip-Seq_HPCs_Mouse0.77078072
121CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75664879

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.64330782
2MP0003880_abnormal_central_pattern4.77463189
3MP0003635_abnormal_synaptic_transmissio3.98271497
4MP0004270_analgesia3.73586401
5MP0001968_abnormal_touch/_nociception3.48309815
6MP0009745_abnormal_behavioral_response3.34105784
7MP0002063_abnormal_learning/memory/cond3.15563795
8MP0002064_seizures3.11945341
9MP0009046_muscle_twitch3.07058043
10MP0005423_abnormal_somatic_nervous2.99654614
11MP0002734_abnormal_mechanical_nocicepti2.91190656
12MP0002736_abnormal_nociception_after2.85347271
13MP0002735_abnormal_chemical_nociception2.80337635
14MP0002572_abnormal_emotion/affect_behav2.80123339
15MP0002272_abnormal_nervous_system2.68627889
16MP0001501_abnormal_sleep_pattern2.53607139
17MP0006276_abnormal_autonomic_nervous2.52001468
18MP0001486_abnormal_startle_reflex2.44678963
19MP0001440_abnormal_grooming_behavior2.39840973
20MP0002733_abnormal_thermal_nociception2.39441924
21MP0002822_catalepsy2.30829276
22MP0001970_abnormal_pain_threshold2.21966988
23MP0002067_abnormal_sensory_capabilities2.09718926
24MP0002184_abnormal_innervation2.05983727
25MP0004858_abnormal_nervous_system1.91117301
26MP0003329_amyloid_beta_deposits1.88795541
27MP0000778_abnormal_nervous_system1.87096322
28MP0002557_abnormal_social/conspecific_i1.77441348
29MP0004924_abnormal_behavior1.74234555
30MP0005386_behavior/neurological_phenoty1.74234555
31MP0005645_abnormal_hypothalamus_physiol1.70719856
32MP0008569_lethality_at_weaning1.62441673
33MP0004811_abnormal_neuron_physiology1.60586913
34MP0001529_abnormal_vocalization1.58577795
35MP0001984_abnormal_olfaction1.56901076
36MP0000955_abnormal_spinal_cord1.54744957
37MP0001905_abnormal_dopamine_level1.54165951
38MP0003122_maternal_imprinting1.50558245
39MP0002909_abnormal_adrenal_gland1.46820864
40MP0002882_abnormal_neuron_morphology1.44736978
41MP0009780_abnormal_chondrocyte_physiolo1.44489418
42MP0004142_abnormal_muscle_tone1.41516554
43MP0002066_abnormal_motor_capabilities/c1.40480547
44MP0003879_abnormal_hair_cell1.39516769
45MP0005646_abnormal_pituitary_gland1.39084351
46MP0001502_abnormal_circadian_rhythm1.32203669
47MP0010386_abnormal_urinary_bladder1.31631194
48MP0004885_abnormal_endolymph1.27299485
49MP0001188_hyperpigmentation1.26009440
50MP0003123_paternal_imprinting1.25870566
51MP0003787_abnormal_imprinting1.19704753
52MP0002837_dystrophic_cardiac_calcinosis1.19577288
53MP0003633_abnormal_nervous_system1.18741511
54MP0000751_myopathy1.17814892
55MP0002638_abnormal_pupillary_reflex1.10834924
56MP0002152_abnormal_brain_morphology1.07038868
57MP0003631_nervous_system_phenotype1.05672644
58MP0004742_abnormal_vestibular_system1.03565521
59MP0005551_abnormal_eye_electrophysiolog1.02960524
60MP0002229_neurodegeneration1.02196285
61MP0008872_abnormal_physiological_respon1.00050816
62MP0008877_abnormal_DNA_methylation0.99505449
63MP0004145_abnormal_muscle_electrophysio0.97192169
64MP0005535_abnormal_body_temperature0.91187430
65MP0002069_abnormal_eating/drinking_beha0.91078068
66MP0002752_abnormal_somatic_nervous0.89755016
67MP0003634_abnormal_glial_cell0.89060389
68MP0001963_abnormal_hearing_physiology0.88605134
69MP0000604_amyloidosis0.86559042
70MP0008874_decreased_physiological_sensi0.85950644
71MP0005499_abnormal_olfactory_system0.85666831
72MP0005394_taste/olfaction_phenotype0.85666831
73MP0005187_abnormal_penis_morphology0.83750072
74MP0003121_genomic_imprinting0.82075654
75MP0000013_abnormal_adipose_tissue0.80186549
76MP0003632_abnormal_nervous_system0.77997072
77MP0004085_abnormal_heartbeat0.77973235
78MP0000631_abnormal_neuroendocrine_gland0.76399744
79MP0006072_abnormal_retinal_apoptosis0.75855902
80MP0002876_abnormal_thyroid_physiology0.75306518
81MP0000569_abnormal_digit_pigmentation0.74141253
82MP0004133_heterotaxia0.73439897
83MP0001664_abnormal_digestion0.73361168
84MP0004147_increased_porphyrin_level0.71743951
85MP0002090_abnormal_vision0.71277962
86MP0004484_altered_response_of0.70477520
87MP0000920_abnormal_myelination0.68096310
88MP0001346_abnormal_lacrimal_gland0.66667509
89MP0005409_darkened_coat_color0.66559843
90MP0004215_abnormal_myocardial_fiber0.66474527
91MP0001177_atelectasis0.66178652
92MP0002751_abnormal_autonomic_nervous0.64738826
93MP0003119_abnormal_digestive_system0.61924691
94MP0003690_abnormal_glial_cell0.61747991
95MP0002653_abnormal_ependyma_morphology0.60955258
96MP0000579_abnormal_nail_morphology0.60261053
97MP0009379_abnormal_foot_pigmentation0.60083916
98MP0003283_abnormal_digestive_organ0.59964654
99MP0000026_abnormal_inner_ear0.59424158
100MP0003938_abnormal_ear_development0.58911967
101MP0002089_abnormal_postnatal_growth/wei0.58194803
102MP0001943_abnormal_respiration0.57956231
103MP0008961_abnormal_basal_metabolism0.57900003
104MP0001986_abnormal_taste_sensitivity0.57809218
105MP0005623_abnormal_meninges_morphology0.57797423
106MP0005379_endocrine/exocrine_gland_phen0.54841902
107MP0003861_abnormal_nervous_system0.54013184
108MP0003137_abnormal_impulse_conducting0.53949225
109MP0010768_mortality/aging0.53931861
110MP0001485_abnormal_pinna_reflex0.53826995
111MP0001299_abnormal_eye_distance/0.51477039
112MP0000566_synostosis0.51404646
113MP0003075_altered_response_to0.49401926
114MP0010770_preweaning_lethality0.49382758
115MP0002082_postnatal_lethality0.49382758
116MP0010769_abnormal_survival0.49149321
117MP0003956_abnormal_body_size0.49052527
118MP0001348_abnormal_lacrimal_gland0.47696429

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.65178601
2Myokymia (HP:0002411)6.90269948
3Focal seizures (HP:0007359)5.82630060
4Visual hallucinations (HP:0002367)5.39789561
5Atonic seizures (HP:0010819)5.12897272
6Absence seizures (HP:0002121)4.62615040
7Febrile seizures (HP:0002373)4.62139352
8Epileptic encephalopathy (HP:0200134)4.61391617
9Progressive cerebellar ataxia (HP:0002073)4.46305528
10Generalized tonic-clonic seizures (HP:0002069)4.24293534
11Dialeptic seizures (HP:0011146)4.23332781
12Action tremor (HP:0002345)3.87121980
13Supranuclear gaze palsy (HP:0000605)3.56785645
14Broad-based gait (HP:0002136)3.39874287
15Amblyopia (HP:0000646)3.35128444
16Hyperventilation (HP:0002883)3.17502917
17Annular pancreas (HP:0001734)3.07820717
18Akinesia (HP:0002304)3.05752788
19Poor eye contact (HP:0000817)3.03871130
20Cerebral hypomyelination (HP:0006808)3.02251430
21Anxiety (HP:0000739)3.01183105
22Truncal ataxia (HP:0002078)3.00638744
23Ankle clonus (HP:0011448)2.99170062
24Gaze-evoked nystagmus (HP:0000640)2.91997544
25Limb dystonia (HP:0002451)2.91961288
26Mutism (HP:0002300)2.91730836
27Dysdiadochokinesis (HP:0002075)2.88960112
28Abnormal eating behavior (HP:0100738)2.88656433
29Cerebral inclusion bodies (HP:0100314)2.88227740
30Dysmetria (HP:0001310)2.87466729
31Neurofibrillary tangles (HP:0002185)2.83955998
32Impaired vibration sensation in the lower limbs (HP:0002166)2.83652890
33Diplopia (HP:0000651)2.83173435
34Abnormality of binocular vision (HP:0011514)2.83173435
35Depression (HP:0000716)2.82871892
36Hemiparesis (HP:0001269)2.82092375
37Termporal pattern (HP:0011008)2.80408934
38Insidious onset (HP:0003587)2.80408934
39Impaired social interactions (HP:0000735)2.76973460
40Abnormal social behavior (HP:0012433)2.76973460
41Progressive inability to walk (HP:0002505)2.76866443
42Obstructive sleep apnea (HP:0002870)2.74810312
43Urinary bladder sphincter dysfunction (HP:0002839)2.67623360
44Tetraplegia (HP:0002445)2.67161166
45Drooling (HP:0002307)2.65417178
46Excessive salivation (HP:0003781)2.65417178
47Pheochromocytoma (HP:0002666)2.60875285
48Polyphagia (HP:0002591)2.56287745
49Epileptiform EEG discharges (HP:0011182)2.50131759
50Papilledema (HP:0001085)2.44836096
51EEG with generalized epileptiform discharges (HP:0011198)2.41243581
52Postural instability (HP:0002172)2.41070502
53Urinary urgency (HP:0000012)2.40917084
54Clonus (HP:0002169)2.39559468
55Neuroendocrine neoplasm (HP:0100634)2.35187118
56Abnormality of the corticospinal tract (HP:0002492)2.34811285
57Spastic gait (HP:0002064)2.32114458
58Sleep apnea (HP:0010535)2.31878011
59Inability to walk (HP:0002540)2.31087894
60Status epilepticus (HP:0002133)2.29129662
61Generalized myoclonic seizures (HP:0002123)2.27656711
62Protruding tongue (HP:0010808)2.26210867
63Morphological abnormality of the pyramidal tract (HP:0002062)2.25862583
64Inappropriate behavior (HP:0000719)2.25444329
65Absent speech (HP:0001344)2.24699519
66Bradykinesia (HP:0002067)2.22318397
67Hypsarrhythmia (HP:0002521)2.22000058
68Torticollis (HP:0000473)2.20998127
69Delusions (HP:0000746)2.19580484
70Spastic tetraparesis (HP:0001285)2.19421210
71Megalencephaly (HP:0001355)2.18454082
72Apathy (HP:0000741)2.16275760
73Fetal akinesia sequence (HP:0001989)2.15983109
74CNS hypomyelination (HP:0003429)2.15106051
75Agitation (HP:0000713)2.14131103
76Impaired smooth pursuit (HP:0007772)2.14094627
77Focal dystonia (HP:0004373)2.13969454
78Psychosis (HP:0000709)2.13280368
79Scanning speech (HP:0002168)2.12326101
80Gait imbalance (HP:0002141)2.11880614
81Peripheral hypomyelination (HP:0007182)2.09413377
82Genetic anticipation (HP:0003743)2.08952442
83Exotropia (HP:0000577)2.08922321
84Hemiplegia (HP:0002301)2.08617585
85Failure to thrive in infancy (HP:0001531)2.06613748
86Rigidity (HP:0002063)2.05160416
87Split foot (HP:0001839)2.03939857
88Intention tremor (HP:0002080)2.03323781
89Hypoventilation (HP:0002791)2.02804939
90Postural tremor (HP:0002174)2.02581945
91Hyperthyroidism (HP:0000836)2.00295536
92Abnormality of the lower motor neuron (HP:0002366)1.97497277
93Lower limb muscle weakness (HP:0007340)1.97388400
94Stereotypic behavior (HP:0000733)1.97380992
95Specific learning disability (HP:0001328)1.96905912
96Abnormality of ocular smooth pursuit (HP:0000617)1.93581572
97Choreoathetosis (HP:0001266)1.92087194
98Rapidly progressive (HP:0003678)1.91238709
99Amyotrophic lateral sclerosis (HP:0007354)1.91151768
100Diminished motivation (HP:0000745)1.90169775
101Aplasia involving bones of the upper limbs (HP:0009823)1.89517095
102Aplasia of the phalanges of the hand (HP:0009802)1.89517095
103Aplasia involving bones of the extremities (HP:0009825)1.89517095
104Craniofacial dystonia (HP:0012179)1.89114837
105Hypothermia (HP:0002045)1.89043186
106Gait ataxia (HP:0002066)1.88325221
107Esotropia (HP:0000565)1.87681649
108Abnormality of salivation (HP:0100755)1.86662779
109Prolonged QT interval (HP:0001657)1.85780610
110Incomplete penetrance (HP:0003829)1.84690838
111Aplasia/Hypoplasia of the brainstem (HP:0007362)1.83481947
112Hypoplasia of the brainstem (HP:0002365)1.83481947
113Impaired pain sensation (HP:0007328)1.83406953
114Abnormality of pain sensation (HP:0010832)1.83406953
115Abnormal EKG (HP:0003115)1.82722269
116Ventricular fibrillation (HP:0001663)1.82526602
117Retinal dysplasia (HP:0007973)1.81780620
118Neuronal loss in central nervous system (HP:0002529)1.81147353
119Impaired vibratory sensation (HP:0002495)1.80449809
120Insomnia (HP:0100785)1.80254773
121Increased circulating renin level (HP:0000848)1.77059507
122Ulnar claw (HP:0001178)1.75289314
123Spastic tetraplegia (HP:0002510)1.74686118
124Anosmia (HP:0000458)1.74324947
125Blue irides (HP:0000635)1.71956236
126Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.71938488
127Abnormality of saccadic eye movements (HP:0000570)1.67848146

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.47355924
2MAP3K93.63296233
3EPHA43.62291552
4MAP3K43.18685038
5MARK13.17105474
6MINK12.87998044
7MAP3K122.72294672
8MAP2K72.70877944
9CASK2.30824860
10NTRK22.25523489
11DAPK22.24022191
12PNCK2.22888251
13NTRK12.20296778
14MAP2K42.14627220
15GRK52.10959139
16RIPK42.09029672
17PAK61.97608521
18KSR21.89585681
19ARAF1.85250977
20PLK21.62246011
21MAPK131.61204387
22CDK51.50418043
23SIK21.45262129
24TNIK1.44960784
25DAPK11.44723358
26CAMKK11.40761800
27UHMK11.34424060
28PRPF4B1.32581606
29KSR11.31466047
30NME11.29092328
31PRKD31.25924701
32PRKCG1.22774342
33LATS21.21411431
34CDK191.18173681
35FES1.14204854
36CAMK2A1.13469934
37CAMKK21.11259550
38PHKG21.09279105
39PHKG11.09279105
40MAP3K21.06920393
41MAP3K111.02529241
42STK381.02208079
43CDK140.91555910
44CAMK2B0.90713850
45CDK180.89197724
46CSNK1G20.87731096
47CDK150.87013132
48DYRK20.85796095
49MAP3K130.84323819
50PTK2B0.83161240
51RET0.82471447
52TNK20.81445614
53BMPR20.81196280
54PKN10.79806340
55PAK30.79191599
56INSRR0.78678358
57OXSR10.78230417
58TYRO30.77478188
59STK110.77235840
60CDK11A0.75364743
61DYRK1A0.74976562
62CAMK10.73908082
63RIPK10.70762788
64SGK2230.68443930
65SGK4940.68443930
66CAMK40.67556376
67GRK70.67405429
68SGK30.66028621
69NEK60.65302191
70RAF10.64623709
71FER0.64534634
72LMTK20.64294653
73FGR0.64000695
74PRKCE0.63532840
75CAMK2D0.59819581
76CAMK2G0.57101413
77SGK10.54019386
78MAP3K60.53759437
79PRKCH0.53693776
80ADRBK10.51727685
81PRKCZ0.50678061
82MAP2K10.50547718
83MARK20.50134129
84CSNK1G30.50069242
85MAP3K10.48850403
86PINK10.48120324
87SGK20.46377036
88BRAF0.46099703
89TAOK10.45464698
90CAMK1G0.45121523
91DAPK30.44704262
92MAPK120.43177467
93RPS6KA20.42561699
94WNK30.42358558
95BRSK10.42357484
96TESK10.41101470
97RPS6KA30.40437200
98MUSK0.40407466
99FYN0.38566094
100PDPK10.38552862
101PRKCA0.38482455
102MAPK100.38367606
103ALK0.37676161
104ROCK20.36897841
105BCR0.36872683
106STK390.36723937
107PDK10.36497834
108CCNB10.36419161
109CSNK1E0.36161231
110PRKACA0.36082694
111LIMK10.34570019
112SIK30.32160214
113CSNK1D0.31956880
114PRKCB0.31857672
115PRKG10.30972920
116CSNK1A10.28625349
117MAPK80.25911512
118PLK40.23685680
119GSK3B0.23542068
120WNK10.22515328
121CAMK1D0.22396024
122FGFR20.21846746
123MAP3K50.20337547

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.02957863
2Synaptic vesicle cycle_Homo sapiens_hsa047213.38301599
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.80052935
4GABAergic synapse_Homo sapiens_hsa047272.75609769
5Long-term potentiation_Homo sapiens_hsa047202.62194008
6Glutamatergic synapse_Homo sapiens_hsa047242.59293230
7Circadian entrainment_Homo sapiens_hsa047132.56458936
8Olfactory transduction_Homo sapiens_hsa047402.53573579
9Morphine addiction_Homo sapiens_hsa050322.44836517
10Amphetamine addiction_Homo sapiens_hsa050312.41344422
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25963393
12Dopaminergic synapse_Homo sapiens_hsa047282.18848150
13Salivary secretion_Homo sapiens_hsa049702.18711450
14Insulin secretion_Homo sapiens_hsa049111.98510366
15Serotonergic synapse_Homo sapiens_hsa047261.94907406
16Collecting duct acid secretion_Homo sapiens_hsa049661.92167521
17* Taste transduction_Homo sapiens_hsa047421.91911956
18Cholinergic synapse_Homo sapiens_hsa047251.87206857
19Gastric acid secretion_Homo sapiens_hsa049711.85128912
20Renin secretion_Homo sapiens_hsa049241.76934108
21Long-term depression_Homo sapiens_hsa047301.74768980
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.66743579
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.65901358
24Cocaine addiction_Homo sapiens_hsa050301.59636534
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59204351
26Oxytocin signaling pathway_Homo sapiens_hsa049211.58706579
27Vitamin B6 metabolism_Homo sapiens_hsa007501.56144394
28Calcium signaling pathway_Homo sapiens_hsa040201.55983374
29Cardiac muscle contraction_Homo sapiens_hsa042601.51451030
30Oxidative phosphorylation_Homo sapiens_hsa001901.47426269
31GnRH signaling pathway_Homo sapiens_hsa049121.41573011
32Gap junction_Homo sapiens_hsa045401.33073914
33* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27961990
34Alzheimers disease_Homo sapiens_hsa050101.27271710
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.26361789
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26170047
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20932866
38Vibrio cholerae infection_Homo sapiens_hsa051101.16252950
39Parkinsons disease_Homo sapiens_hsa050121.15310980
40Estrogen signaling pathway_Homo sapiens_hsa049151.12628148
41Axon guidance_Homo sapiens_hsa043601.12283551
42cAMP signaling pathway_Homo sapiens_hsa040241.11788700
43Phototransduction_Homo sapiens_hsa047441.06137648
44Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04391931
45Melanogenesis_Homo sapiens_hsa049161.01268899
46Phosphatidylinositol signaling system_Homo sapiens_hsa040700.97346681
47Glioma_Homo sapiens_hsa052140.96092369
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95986546
49Type II diabetes mellitus_Homo sapiens_hsa049300.93590303
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.92551233
51ErbB signaling pathway_Homo sapiens_hsa040120.90744166
52Pancreatic secretion_Homo sapiens_hsa049720.90106930
53Dorso-ventral axis formation_Homo sapiens_hsa043200.86986715
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.83864723
55Oocyte meiosis_Homo sapiens_hsa041140.81549783
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.80388828
57Huntingtons disease_Homo sapiens_hsa050160.79745231
58Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.79086648
59Thyroid hormone synthesis_Homo sapiens_hsa049180.77135528
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74713170
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.71493664
62Choline metabolism in cancer_Homo sapiens_hsa052310.64570352
63MAPK signaling pathway_Homo sapiens_hsa040100.64333743
64Dilated cardiomyopathy_Homo sapiens_hsa054140.63144891
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.60143366
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.59554872
67VEGF signaling pathway_Homo sapiens_hsa043700.58058718
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57193396
69Ras signaling pathway_Homo sapiens_hsa040140.55030074
70Glucagon signaling pathway_Homo sapiens_hsa049220.52152844
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51355554
72Alcoholism_Homo sapiens_hsa050340.51269999
73Prion diseases_Homo sapiens_hsa050200.48939436
74Type I diabetes mellitus_Homo sapiens_hsa049400.48882186
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48651142
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.48440998
77Bile secretion_Homo sapiens_hsa049760.45897978
78Sphingolipid signaling pathway_Homo sapiens_hsa040710.44861683
79African trypanosomiasis_Homo sapiens_hsa051430.44244690
80Rap1 signaling pathway_Homo sapiens_hsa040150.41392781
81Wnt signaling pathway_Homo sapiens_hsa043100.36636578
82Insulin signaling pathway_Homo sapiens_hsa049100.36570230
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35707439
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35296767
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35293331
86Rheumatoid arthritis_Homo sapiens_hsa053230.34332801
87Inositol phosphate metabolism_Homo sapiens_hsa005620.34270023
88Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33976548
89Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.33559818
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33270624
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33079969
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32455111
93Arginine and proline metabolism_Homo sapiens_hsa003300.32360922
94Endocytosis_Homo sapiens_hsa041440.31869824
95Circadian rhythm_Homo sapiens_hsa047100.30661572
96Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30538544
97Fatty acid biosynthesis_Homo sapiens_hsa000610.30473924
98Renal cell carcinoma_Homo sapiens_hsa052110.29942583
99Tight junction_Homo sapiens_hsa045300.29821579
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28786650
101Histidine metabolism_Homo sapiens_hsa003400.27944703
102Ovarian steroidogenesis_Homo sapiens_hsa049130.27668060
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.27462333
104mTOR signaling pathway_Homo sapiens_hsa041500.26536144
105Endometrial cancer_Homo sapiens_hsa052130.24927855
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24718699
107Hippo signaling pathway_Homo sapiens_hsa043900.24620904
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24518588
109Mineral absorption_Homo sapiens_hsa049780.20957259
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.19256964
111beta-Alanine metabolism_Homo sapiens_hsa004100.15143915
112Butanoate metabolism_Homo sapiens_hsa006500.14009570
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.12867667

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