ARNT2

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 basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.89223236
2synaptic vesicle maturation (GO:0016188)5.87741415
3locomotory exploration behavior (GO:0035641)5.75507045
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.51691447
5vocalization behavior (GO:0071625)5.41183804
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.31873720
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.22055729
8synaptic vesicle exocytosis (GO:0016079)5.10191170
9glutamate secretion (GO:0014047)5.01785016
10regulation of glutamate receptor signaling pathway (GO:1900449)4.94027774
11layer formation in cerebral cortex (GO:0021819)4.92265606
12regulation of synaptic vesicle exocytosis (GO:2000300)4.90715384
13synaptic vesicle docking involved in exocytosis (GO:0016081)4.79072808
14neuron cell-cell adhesion (GO:0007158)4.74152750
15protein localization to synapse (GO:0035418)4.67371050
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.58684523
17dendritic spine morphogenesis (GO:0060997)4.54886075
18exploration behavior (GO:0035640)4.48140633
19regulation of neuronal synaptic plasticity (GO:0048168)4.40261857
20regulation of synaptic vesicle transport (GO:1902803)4.34707436
21regulation of synapse structural plasticity (GO:0051823)4.34279310
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.33641290
23axon ensheathment in central nervous system (GO:0032291)4.29531863
24central nervous system myelination (GO:0022010)4.29531863
25neurotransmitter secretion (GO:0007269)4.27752382
26amino acid import (GO:0043090)4.21097757
27cerebellar granule cell differentiation (GO:0021707)4.15006661
28neuronal action potential propagation (GO:0019227)4.12571671
29gamma-aminobutyric acid transport (GO:0015812)4.02572005
30neuron recognition (GO:0008038)4.00654103
31synaptic transmission, glutamatergic (GO:0035249)3.98732438
32neurotransmitter-gated ion channel clustering (GO:0072578)3.96354290
33regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.94821957
34glutamate receptor signaling pathway (GO:0007215)3.93047488
35dendrite morphogenesis (GO:0048813)3.77932815
36axonal fasciculation (GO:0007413)3.76575137
37long-term memory (GO:0007616)3.75665896
38neuron-neuron synaptic transmission (GO:0007270)3.73787825
39proline transport (GO:0015824)3.69694887
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.68863424
41regulation of dendritic spine morphogenesis (GO:0061001)3.67965914
42positive regulation of membrane potential (GO:0045838)3.65569852
43potassium ion homeostasis (GO:0055075)3.61276553
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60213194
45postsynaptic membrane organization (GO:0001941)3.57843036
46auditory behavior (GO:0031223)3.50024516
47positive regulation of synapse maturation (GO:0090129)3.49681008
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.49121520
49potassium ion import (GO:0010107)3.48328381
50cellular potassium ion homeostasis (GO:0030007)3.47609202
51neuromuscular process controlling balance (GO:0050885)3.45780926
52neurotransmitter transport (GO:0006836)3.45682870
53cell migration in hindbrain (GO:0021535)3.45052200
54regulation of synaptic plasticity (GO:0048167)3.43701467
55transmission of nerve impulse (GO:0019226)3.43388713
56regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43094312
57regulation of postsynaptic membrane potential (GO:0060078)3.42807625
58positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41605880
59regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.38139376
60positive regulation of synaptic transmission, GABAergic (GO:0032230)3.37645648
61neuromuscular synaptic transmission (GO:0007274)3.31177438
62activation of protein kinase A activity (GO:0034199)3.29852390
63glycine transport (GO:0015816)3.28602511
64regulation of neurotransmitter secretion (GO:0046928)3.28471641
65response to auditory stimulus (GO:0010996)3.27476292
66neuronal ion channel clustering (GO:0045161)3.26533493
67synaptic vesicle endocytosis (GO:0048488)3.25857747
68long-term synaptic potentiation (GO:0060291)3.24099058
69sodium ion export (GO:0071436)3.23794315
70L-amino acid import (GO:0043092)3.23781797
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.21713086
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.20749667
73neurotransmitter uptake (GO:0001504)3.19687394
74central nervous system projection neuron axonogenesis (GO:0021952)3.19656743
75membrane depolarization during action potential (GO:0086010)3.19040594
76regulation of neurotransmitter levels (GO:0001505)3.17571611
77presynaptic membrane assembly (GO:0097105)3.17528382
78dendritic spine organization (GO:0097061)3.16759675
79regulation of dendritic spine development (GO:0060998)3.16419498
80acidic amino acid transport (GO:0015800)3.14378345
81G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.14032916
82prepulse inhibition (GO:0060134)3.13386053
83regulation of voltage-gated calcium channel activity (GO:1901385)3.12244771
84positive regulation of dendritic spine development (GO:0060999)3.11340289
85negative regulation of synaptic transmission, GABAergic (GO:0032229)3.10981496
86cerebellar Purkinje cell differentiation (GO:0021702)3.10283778
87mechanosensory behavior (GO:0007638)3.10279456
88presynaptic membrane organization (GO:0097090)3.09805875
89negative regulation of dendrite morphogenesis (GO:0050774)3.08165337
90pyrimidine nucleobase catabolic process (GO:0006208)3.07031847
91regulation of neurotransmitter transport (GO:0051588)3.04945307
92cellular sodium ion homeostasis (GO:0006883)3.04874556
93positive regulation of neurotransmitter secretion (GO:0001956)3.04661707
94startle response (GO:0001964)3.04012375
95positive regulation of synapse assembly (GO:0051965)3.02885364
96regulation of synapse maturation (GO:0090128)3.02268961
97synapse assembly (GO:0007416)3.01813977
98regulation of vesicle fusion (GO:0031338)3.01387335
99positive regulation of neurotransmitter transport (GO:0051590)3.00583396
100establishment of mitochondrion localization (GO:0051654)3.00548242
101membrane hyperpolarization (GO:0060081)2.99140828
102learning (GO:0007612)2.98302373
103gamma-aminobutyric acid signaling pathway (GO:0007214)2.97218272
104positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.96792798
105membrane depolarization (GO:0051899)2.95735906
106cerebellar Purkinje cell layer development (GO:0021680)2.95690220
107establishment of nucleus localization (GO:0040023)2.92444658
108innervation (GO:0060384)2.91109095
109positive regulation of dendritic spine morphogenesis (GO:0061003)2.90854838
110cell communication by electrical coupling (GO:0010644)2.90799847
111positive regulation of synaptic transmission (GO:0050806)2.90727814
112positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.90489185
113synaptic transmission (GO:0007268)2.90159048
114synapse organization (GO:0050808)2.90029163
115vesicle transport along microtubule (GO:0047496)2.89550620
116neuromuscular process (GO:0050905)2.89536164
117regulation of synaptic transmission (GO:0050804)2.87223396
118negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.86443431
119social behavior (GO:0035176)2.84610379
120intraspecies interaction between organisms (GO:0051703)2.84610379
121regulation of respiratory system process (GO:0044065)2.84272537
122behavioral defense response (GO:0002209)2.82563090

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.07848440
2GBX2_23144817_ChIP-Seq_PC3_Human3.19983711
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12656599
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11864803
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.00934414
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.81757463
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.81757463
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67976690
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.65374511
10REST_21632747_ChIP-Seq_MESCs_Mouse2.61153713
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60552903
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57849506
13DROSHA_22980978_ChIP-Seq_HELA_Human2.53096139
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52393171
15* RARB_27405468_Chip-Seq_BRAIN_Mouse2.52309736
16* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.50280692
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49582470
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.35478888
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.35367842
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.33918329
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.28806173
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.25148631
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.14076744
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.13088547
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07945034
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.04114722
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.00981149
28AR_21572438_ChIP-Seq_LNCaP_Human1.98088617
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.96615435
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.79623676
31ERG_21242973_ChIP-ChIP_JURKAT_Human1.62657694
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.62190424
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49008290
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47204407
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.47084081
36RING1B_27294783_Chip-Seq_ESCs_Mouse1.46730587
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.45622034
38SMAD4_21799915_ChIP-Seq_A2780_Human1.43373070
39TAF15_26573619_Chip-Seq_HEK293_Human1.42610986
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41805170
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39914437
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.37002616
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33187449
44ZNF274_21170338_ChIP-Seq_K562_Hela1.30783987
45RING1B_27294783_Chip-Seq_NPCs_Mouse1.30436518
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30356524
47* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.27682002
48SOX2_21211035_ChIP-Seq_LN229_Gbm1.27092394
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.25760900
50RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24954229
51* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24575316
52DNAJC2_21179169_ChIP-ChIP_NT2_Human1.22677343
53ZFP281_18757296_ChIP-ChIP_E14_Mouse1.22306533
54ZFP57_27257070_Chip-Seq_ESCs_Mouse1.21231834
55* AR_19668381_ChIP-Seq_PC3_Human1.18970562
56P300_19829295_ChIP-Seq_ESCs_Human1.18960709
57KDM2B_26808549_Chip-Seq_K562_Human1.18218520
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17702970
59SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14617391
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14339846
61EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.11880065
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11400680
63RNF2_27304074_Chip-Seq_NSC_Mouse1.10619940
64* STAT3_23295773_ChIP-Seq_U87_Human1.10253929
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09279525
66AR_25329375_ChIP-Seq_VCAP_Human1.09206048
67ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08912348
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08905010
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08887128
70BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08336805
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.07188856
72TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06737464
73TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.06720996
74* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05307107
75* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04603349
76VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03889287
77AHR_22903824_ChIP-Seq_MCF-7_Human1.03293662
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.02268063
79SMAD_19615063_ChIP-ChIP_OVARY_Human1.01907457
80LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98440502
81NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98327985
82MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98017131
83IGF1R_20145208_ChIP-Seq_DFB_Human0.97942046
84* TCF4_23295773_ChIP-Seq_U87_Human0.95719476
85SMAD3_21741376_ChIP-Seq_ESCs_Human0.94757749
86ZFP281_27345836_Chip-Seq_ESCs_Mouse0.94723486
87GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93850093
88* SMAD4_21741376_ChIP-Seq_HESCs_Human0.93160825
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.92560639
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91844895
91GATA1_26923725_Chip-Seq_HPCs_Mouse0.91651238
92OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91257569
93SOX9_26525672_Chip-Seq_HEART_Mouse0.90996712
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90960206
95TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90680944
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89497458
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89497458
98CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88880203
99RUNX2_22187159_ChIP-Seq_PCA_Human0.88842984
100PRDM14_20953172_ChIP-Seq_ESCs_Human0.88834962
101TET1_21490601_ChIP-Seq_MESCs_Mouse0.88308128
102CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.87904740
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.87461812
104CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87109995
105TRIM28_21343339_ChIP-Seq_HEK293_Human0.87034577
106RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.87005787
107KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.85425147
108SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85106977
109TP53_20018659_ChIP-ChIP_R1E_Mouse0.84481042
110KDM2B_26808549_Chip-Seq_REH_Human0.84231194
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.83947170
112ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83792870
113CTCF_27219007_Chip-Seq_Bcells_Human0.82027205
114GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81890394
115STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.81570629
116TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.81200287

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.56814221
2MP0003880_abnormal_central_pattern4.72919558
3MP0003635_abnormal_synaptic_transmissio4.11733926
4MP0004270_analgesia3.89280115
5MP0002063_abnormal_learning/memory/cond3.36618689
6MP0009745_abnormal_behavioral_response3.26737041
7MP0005423_abnormal_somatic_nervous3.18662333
8MP0002064_seizures3.07319279
9MP0009046_muscle_twitch2.83506577
10MP0002572_abnormal_emotion/affect_behav2.70819380
11MP0001968_abnormal_touch/_nociception2.70019000
12MP0001486_abnormal_startle_reflex2.67381085
13MP0002734_abnormal_mechanical_nocicepti2.64278760
14MP0002822_catalepsy2.59098444
15MP0002272_abnormal_nervous_system2.42414744
16MP0000778_abnormal_nervous_system2.30853433
17MP0009780_abnormal_chondrocyte_physiolo2.09501030
18MP0001501_abnormal_sleep_pattern1.99189820
19MP0001440_abnormal_grooming_behavior1.98185520
20MP0002733_abnormal_thermal_nociception1.97070782
21MP0002735_abnormal_chemical_nociception1.96132323
22MP0004858_abnormal_nervous_system1.91999323
23MP0003329_amyloid_beta_deposits1.90418585
24MP0002736_abnormal_nociception_after1.90400225
25MP0001970_abnormal_pain_threshold1.89198760
26MP0004811_abnormal_neuron_physiology1.89080672
27MP0002184_abnormal_innervation1.87876640
28MP0002557_abnormal_social/conspecific_i1.86376222
29MP0002067_abnormal_sensory_capabilities1.85092239
30MP0008569_lethality_at_weaning1.84151003
31MP0004885_abnormal_endolymph1.78780088
32MP0000955_abnormal_spinal_cord1.72844108
33MP0002909_abnormal_adrenal_gland1.65631362
34MP0005386_behavior/neurological_phenoty1.64723294
35MP0004924_abnormal_behavior1.64723294
36MP0005645_abnormal_hypothalamus_physiol1.58412132
37MP0006276_abnormal_autonomic_nervous1.54400868
38MP0001984_abnormal_olfaction1.54203018
39MP0002882_abnormal_neuron_morphology1.52776485
40MP0003787_abnormal_imprinting1.48404339
41MP0002066_abnormal_motor_capabilities/c1.45185944
42MP0003122_maternal_imprinting1.44717301
43MP0003879_abnormal_hair_cell1.38573579
44MP0001529_abnormal_vocalization1.29856030
45MP0003633_abnormal_nervous_system1.27828901
46* MP0002152_abnormal_brain_morphology1.26966950
47MP0001502_abnormal_circadian_rhythm1.22090374
48MP0000569_abnormal_digit_pigmentation1.19244939
49MP0003631_nervous_system_phenotype1.12069691
50MP0001905_abnormal_dopamine_level1.11566130
51MP0003136_yellow_coat_color1.11227917
52MP0004142_abnormal_muscle_tone1.10720920
53MP0003123_paternal_imprinting1.10332432
54MP0000920_abnormal_myelination1.07123851
55MP0003283_abnormal_digestive_organ1.06017220
56MP0003634_abnormal_glial_cell1.05081859
57MP0004742_abnormal_vestibular_system1.04409154
58MP0001177_atelectasis1.01998523
59MP0003690_abnormal_glial_cell1.00574636
60MP0005171_absent_coat_pigmentation1.00352462
61MP0002069_abnormal_eating/drinking_beha0.98852175
62* MP0005646_abnormal_pituitary_gland0.95428817
63MP0005394_taste/olfaction_phenotype0.94185885
64MP0005499_abnormal_olfactory_system0.94185885
65MP0001188_hyperpigmentation0.94141404
66MP0008961_abnormal_basal_metabolism0.93286807
67MP0002229_neurodegeneration0.89056172
68MP0000751_myopathy0.87478403
69MP0010386_abnormal_urinary_bladder0.87420254
70MP0003632_abnormal_nervous_system0.86371219
71* MP0000631_abnormal_neuroendocrine_gland0.84356461
72MP0003861_abnormal_nervous_system0.83873127
73MP0001963_abnormal_hearing_physiology0.83121324
74MP0002752_abnormal_somatic_nervous0.81914341
75MP0005623_abnormal_meninges_morphology0.81836021
76MP0001299_abnormal_eye_distance/0.80391338
77MP0005409_darkened_coat_color0.79819557
78MP0008872_abnormal_physiological_respon0.79630175
79MP0004085_abnormal_heartbeat0.79077592
80MP0000566_synostosis0.78872810
81MP0003121_genomic_imprinting0.78739811
82MP0000604_amyloidosis0.78167005
83MP0001485_abnormal_pinna_reflex0.76197249
84MP0005551_abnormal_eye_electrophysiolog0.70967603
85MP0000013_abnormal_adipose_tissue0.70830004
86MP0008874_decreased_physiological_sensi0.70268124
87MP0004145_abnormal_muscle_electrophysio0.69344048
88MP0003137_abnormal_impulse_conducting0.69254562
89MP0003075_altered_response_to0.69117037
90MP0002249_abnormal_larynx_morphology0.68194783
91MP0008877_abnormal_DNA_methylation0.66816085
92MP0001986_abnormal_taste_sensitivity0.65031430
93MP0005187_abnormal_penis_morphology0.63739274
94MP0005167_abnormal_blood-brain_barrier0.63579436
95MP0001943_abnormal_respiration0.63489133
96MP0002234_abnormal_pharynx_morphology0.62733306
97MP0003938_abnormal_ear_development0.62720418
98MP0002090_abnormal_vision0.62499552
99MP0002638_abnormal_pupillary_reflex0.62124659
100MP0000537_abnormal_urethra_morphology0.62025846
101MP0005535_abnormal_body_temperature0.61768402
102MP0005253_abnormal_eye_physiology0.61118778
103MP0001346_abnormal_lacrimal_gland0.60926188
104MP0000579_abnormal_nail_morphology0.60504263
105MP0000026_abnormal_inner_ear0.59124459
106* MP0010769_abnormal_survival0.58716420
107MP0002653_abnormal_ependyma_morphology0.58432314
108MP0000534_abnormal_ureter_morphology0.57860522
109* MP0002082_postnatal_lethality0.57214708
110* MP0010770_preweaning_lethality0.57214708
111MP0004233_abnormal_muscle_weight0.57120779
112* MP0010768_mortality/aging0.55672181
113MP0001348_abnormal_lacrimal_gland0.52375655

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.64653014
2Myokymia (HP:0002411)6.61538021
3Focal seizures (HP:0007359)5.25590484
4Visual hallucinations (HP:0002367)4.44223752
5Epileptic encephalopathy (HP:0200134)4.31156738
6Ankle clonus (HP:0011448)3.91567059
7Supranuclear gaze palsy (HP:0000605)3.85231940
8Progressive cerebellar ataxia (HP:0002073)3.76015875
9Action tremor (HP:0002345)3.72329146
10Atonic seizures (HP:0010819)3.67991192
11Febrile seizures (HP:0002373)3.59958622
12Broad-based gait (HP:0002136)3.43627606
13Absence seizures (HP:0002121)3.43267896
14Generalized tonic-clonic seizures (HP:0002069)3.35818379
15Poor eye contact (HP:0000817)3.30720789
16Mutism (HP:0002300)3.18587112
17Dialeptic seizures (HP:0011146)3.18006625
18Abnormal eating behavior (HP:0100738)3.17471514
19Impaired vibration sensation in the lower limbs (HP:0002166)3.12066838
20Depression (HP:0000716)3.06668609
21Papilledema (HP:0001085)3.01069437
22Neurofibrillary tangles (HP:0002185)2.99641514
23Megalencephaly (HP:0001355)2.99386855
24Urinary bladder sphincter dysfunction (HP:0002839)2.99168512
25Impaired social interactions (HP:0000735)2.97423191
26Abnormal social behavior (HP:0012433)2.97423191
27Hyperventilation (HP:0002883)2.88723603
28Urinary urgency (HP:0000012)2.83934097
29Dysdiadochokinesis (HP:0002075)2.82942365
30Excessive salivation (HP:0003781)2.79501647
31Drooling (HP:0002307)2.79501647
32Cerebral inclusion bodies (HP:0100314)2.77572780
33Dysmetria (HP:0001310)2.77334923
34Hemiparesis (HP:0001269)2.75364067
35Amblyopia (HP:0000646)2.74567851
36Spastic gait (HP:0002064)2.74423012
37Insidious onset (HP:0003587)2.73071178
38Termporal pattern (HP:0011008)2.73071178
39Split foot (HP:0001839)2.71656495
40Torticollis (HP:0000473)2.69329152
41Anxiety (HP:0000739)2.68544186
42Polyphagia (HP:0002591)2.67130725
43Gaze-evoked nystagmus (HP:0000640)2.65503462
44Truncal ataxia (HP:0002078)2.65371017
45Limb dystonia (HP:0002451)2.64494219
46Peripheral hypomyelination (HP:0007182)2.63481263
47Postural instability (HP:0002172)2.63076628
48Progressive inability to walk (HP:0002505)2.59770594
49Genetic anticipation (HP:0003743)2.54612839
50Abnormality of the corticospinal tract (HP:0002492)2.53149377
51Stereotypic behavior (HP:0000733)2.49588661
52Focal dystonia (HP:0004373)2.47992667
53Diplopia (HP:0000651)2.42324597
54Abnormality of binocular vision (HP:0011514)2.42324597
55Intention tremor (HP:0002080)2.37569968
56Insomnia (HP:0100785)2.36141529
57Lower limb muscle weakness (HP:0007340)2.34359262
58Cerebral hypomyelination (HP:0006808)2.31991752
59Abnormality of the lower motor neuron (HP:0002366)2.29281227
60Hemiplegia (HP:0002301)2.27385079
61Epileptiform EEG discharges (HP:0011182)2.27083154
62Obstructive sleep apnea (HP:0002870)2.24321761
63EEG with generalized epileptiform discharges (HP:0011198)2.23829359
64Impaired smooth pursuit (HP:0007772)2.21377913
65Bradykinesia (HP:0002067)2.21224030
66Amyotrophic lateral sclerosis (HP:0007354)2.20852356
67Craniofacial dystonia (HP:0012179)2.20560469
68Hypsarrhythmia (HP:0002521)2.17413788
69Absent speech (HP:0001344)2.17339310
70Tetraplegia (HP:0002445)2.17214212
71Pointed chin (HP:0000307)2.15406005
72Scanning speech (HP:0002168)2.14277401
73Spastic tetraparesis (HP:0001285)2.09451641
74Fetal akinesia sequence (HP:0001989)2.08899308
75Increased circulating renin level (HP:0000848)2.07960833
76Ventricular fibrillation (HP:0001663)2.02690443
77Morphological abnormality of the pyramidal tract (HP:0002062)2.02359196
78Pheochromocytoma (HP:0002666)2.01170225
79Aplasia involving bones of the upper limbs (HP:0009823)2.00503497
80Aplasia of the phalanges of the hand (HP:0009802)2.00503497
81Aplasia involving bones of the extremities (HP:0009825)2.00503497
82Sleep apnea (HP:0010535)2.00198688
83Failure to thrive in infancy (HP:0001531)1.99674265
84Inability to walk (HP:0002540)1.98148923
85Bronchomalacia (HP:0002780)1.98010576
86Clonus (HP:0002169)1.96506894
87Delusions (HP:0000746)1.95461464
88Inappropriate behavior (HP:0000719)1.94588628
89Impaired vibratory sensation (HP:0002495)1.94463363
90Blue irides (HP:0000635)1.94293725
91Agitation (HP:0000713)1.92644618
92Abnormality of ocular smooth pursuit (HP:0000617)1.91286084
93Akinesia (HP:0002304)1.90744435
94Aplasia/Hypoplasia of the brainstem (HP:0007362)1.89773701
95Hypoplasia of the brainstem (HP:0002365)1.89773701
96Generalized myoclonic seizures (HP:0002123)1.89466167
97Neuronal loss in central nervous system (HP:0002529)1.88986282
98Abnormality of salivation (HP:0100755)1.88789694
99Protruding tongue (HP:0010808)1.88065537
100Annular pancreas (HP:0001734)1.85555293
101Apathy (HP:0000741)1.85418183
102Aqueductal stenosis (HP:0002410)1.84745596
103Ankyloglossia (HP:0010296)1.84279116
104Specific learning disability (HP:0001328)1.82843632
105Turricephaly (HP:0000262)1.82446833
106Spastic tetraplegia (HP:0002510)1.82276940
107Status epilepticus (HP:0002133)1.81945215
108Heterochromia iridis (HP:0001100)1.81108496
109Lower limb amyotrophy (HP:0007210)1.78979421
110Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.74968586
111Degeneration of the lateral corticospinal tracts (HP:0002314)1.74968586
112Incomplete penetrance (HP:0003829)1.74187663
113Gait imbalance (HP:0002141)1.68795245
114Morphological abnormality of the inner ear (HP:0011390)1.68077651
115Diminished motivation (HP:0000745)1.67183227
116Hypoventilation (HP:0002791)1.67158678
117Lower limb asymmetry (HP:0100559)1.64411897
118Rigidity (HP:0002063)1.64385132
119Abnormality of the diencephalon (HP:0010662)1.62618595

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.59339381
2EPHA44.14452993
3NTRK33.88777599
4MAP3K93.55718029
5MAP3K42.79840036
6DAPK22.66153489
7MINK12.56035452
8PAK62.44386356
9NTRK22.42739509
10MAP2K72.26442373
11PRKD32.19212297
12KSR21.83915980
13KSR11.76133643
14NTRK11.74527766
15CAMKK11.70207955
16CDK51.64202585
17CASK1.61264195
18MAP2K41.59179694
19TYRO31.57554235
20MAPK131.54054339
21SIK21.50575523
22UHMK11.50471775
23TNIK1.45111282
24DAPK11.35748019
25CDK191.30995087
26MAP3K121.29643848
27PHKG21.28979156
28PHKG11.28979156
29PNCK1.27809703
30PLK21.21619738
31SGK2231.20189614
32SGK4941.20189614
33PRPF4B1.16049522
34RIPK41.15052523
35STK381.14202454
36PRKCG1.09094458
37LATS21.08539738
38MAP3K21.03538248
39CDK181.01951356
40CDK151.00333532
41FES1.00146501
42OXSR10.99151936
43GRK50.98866492
44TAOK10.96757468
45CDK140.96118762
46PAK30.93484152
47STK110.90121460
48CSNK1G20.87977774
49CDK11A0.87905333
50CAMK2G0.87413719
51SGK20.86602084
52PRKCH0.83686107
53MARK20.82996862
54CAMK2A0.82772158
55FGFR20.80037534
56RET0.80015846
57SGK30.77624980
58ALK0.76843166
59DYRK1A0.76012751
60CAMK10.75935252
61CAMK2B0.71469549
62LMTK20.70925502
63CAMK1G0.69593429
64SGK10.68961245
65DYRK20.67242008
66WNK30.64432530
67CAMKK20.64129954
68PKN10.63502684
69PTK2B0.62518690
70CAMK40.60577131
71CAMK2D0.60291890
72ARAF0.59372710
73PRKCZ0.59230234
74CCNB10.56870716
75MAP3K130.55482105
76BCR0.55075500
77ROCK10.53988396
78ERBB30.53575582
79ICK0.53400933
80NEK60.51298237
81PINK10.51270512
82FYN0.50448270
83RAF10.49311835
84RPS6KA30.48537846
85PRKCE0.48436060
86ROCK20.47714397
87MAPK150.47552831
88BRSK10.47363366
89CDC42BPA0.47227429
90MAPK120.47210981
91PDPK10.46836898
92SCYL20.45236517
93PDK10.45010510
94MAPK100.43765960
95LIMK10.43723441
96STK390.43018754
97DDR20.42763925
98DAPK30.41130044
99EPHB20.41058575
100WNK10.40902628
101CSNK1A1L0.40881996
102ERBB20.40579647
103CSNK1G30.39657187
104FER0.38897163
105RPS6KA20.38439871
106FGR0.38375658
107PDGFRA0.37841363
108RIPK10.36558571
109CSNK1D0.34290521
110PRKG10.32927535
111PRKCA0.31615983
112PRKACA0.31197920
113TNK20.29296069
114CSNK1A10.28528008
115TESK10.27469245
116CSNK1G10.26932907
117CSNK1E0.26107801

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.43627123
2Synaptic vesicle cycle_Homo sapiens_hsa047213.14415078
3GABAergic synapse_Homo sapiens_hsa047272.67492448
4Olfactory transduction_Homo sapiens_hsa047402.63026539
5Circadian entrainment_Homo sapiens_hsa047132.57995878
6Glutamatergic synapse_Homo sapiens_hsa047242.53796378
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47922251
8Long-term potentiation_Homo sapiens_hsa047202.42952812
9Morphine addiction_Homo sapiens_hsa050322.39666123
10Amphetamine addiction_Homo sapiens_hsa050312.25912018
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20361953
12Dopaminergic synapse_Homo sapiens_hsa047282.12400352
13Salivary secretion_Homo sapiens_hsa049702.01176359
14Insulin secretion_Homo sapiens_hsa049111.90859436
15Cholinergic synapse_Homo sapiens_hsa047251.89514897
16Gastric acid secretion_Homo sapiens_hsa049711.86632923
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75596337
18Cocaine addiction_Homo sapiens_hsa050301.71434421
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.65946383
20Renin secretion_Homo sapiens_hsa049241.61766882
21Long-term depression_Homo sapiens_hsa047301.60997583
22Oxytocin signaling pathway_Homo sapiens_hsa049211.60532655
23Axon guidance_Homo sapiens_hsa043601.58387277
24Serotonergic synapse_Homo sapiens_hsa047261.56549412
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.56505710
26Nitrogen metabolism_Homo sapiens_hsa009101.52243278
27Taste transduction_Homo sapiens_hsa047421.52011579
28Gap junction_Homo sapiens_hsa045401.49338493
29Calcium signaling pathway_Homo sapiens_hsa040201.40751721
30GnRH signaling pathway_Homo sapiens_hsa049121.40365439
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39753933
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24016292
33Vitamin B6 metabolism_Homo sapiens_hsa007501.23571293
34cAMP signaling pathway_Homo sapiens_hsa040241.23503689
35Glioma_Homo sapiens_hsa052141.23335729
36ErbB signaling pathway_Homo sapiens_hsa040121.18995082
37Collecting duct acid secretion_Homo sapiens_hsa049661.18253862
38Type II diabetes mellitus_Homo sapiens_hsa049301.16556838
39Estrogen signaling pathway_Homo sapiens_hsa049151.16084159
40Melanogenesis_Homo sapiens_hsa049161.14762278
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.09284041
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03375670
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.03372529
44Dorso-ventral axis formation_Homo sapiens_hsa043200.99190208
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96323176
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.92041628
47Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91994500
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.85985272
49Oocyte meiosis_Homo sapiens_hsa041140.84504119
50Vibrio cholerae infection_Homo sapiens_hsa051100.81154403
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79481014
52Choline metabolism in cancer_Homo sapiens_hsa052310.77619188
53Cardiac muscle contraction_Homo sapiens_hsa042600.76337636
54MAPK signaling pathway_Homo sapiens_hsa040100.76326728
55Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76307908
56Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.75913651
57Endometrial cancer_Homo sapiens_hsa052130.74618390
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.74457448
59Dilated cardiomyopathy_Homo sapiens_hsa054140.73460727
60Pancreatic secretion_Homo sapiens_hsa049720.73397109
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72465081
62Thyroid hormone synthesis_Homo sapiens_hsa049180.69616914
63Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68931121
64Ras signaling pathway_Homo sapiens_hsa040140.68884627
65VEGF signaling pathway_Homo sapiens_hsa043700.67821452
66Rap1 signaling pathway_Homo sapiens_hsa040150.67204137
67Wnt signaling pathway_Homo sapiens_hsa043100.66879845
68Endocytosis_Homo sapiens_hsa041440.65883948
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64024982
70Sphingolipid signaling pathway_Homo sapiens_hsa040710.63945302
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63335431
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62507812
73Phototransduction_Homo sapiens_hsa047440.62411632
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.61210053
75Alcoholism_Homo sapiens_hsa050340.59552015
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55006101
77Non-small cell lung cancer_Homo sapiens_hsa052230.54404773
78mTOR signaling pathway_Homo sapiens_hsa041500.53773815
79Colorectal cancer_Homo sapiens_hsa052100.53530595
80* Renal cell carcinoma_Homo sapiens_hsa052110.52718824
81Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.52128516
82Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48076794
83Hedgehog signaling pathway_Homo sapiens_hsa043400.47079796
84Type I diabetes mellitus_Homo sapiens_hsa049400.46981620
85Prion diseases_Homo sapiens_hsa050200.46110588
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46018443
87Glucagon signaling pathway_Homo sapiens_hsa049220.44434974
88Inositol phosphate metabolism_Homo sapiens_hsa005620.42457561
89Bile secretion_Homo sapiens_hsa049760.41614172
90Insulin signaling pathway_Homo sapiens_hsa049100.40764299
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40601850
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40291268
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39475483
94Tight junction_Homo sapiens_hsa045300.39037068
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38280506
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38085575
97Hippo signaling pathway_Homo sapiens_hsa043900.37890736
98Circadian rhythm_Homo sapiens_hsa047100.37076204
99Ovarian steroidogenesis_Homo sapiens_hsa049130.37059175
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36575793
101Butanoate metabolism_Homo sapiens_hsa006500.36399901
102Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36200775
103Chemokine signaling pathway_Homo sapiens_hsa040620.36089612
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35981155
105Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35634693
106beta-Alanine metabolism_Homo sapiens_hsa004100.34722993
107Basal cell carcinoma_Homo sapiens_hsa052170.32295642
108AMPK signaling pathway_Homo sapiens_hsa041520.30878553
109Histidine metabolism_Homo sapiens_hsa003400.30560226
110Alzheimers disease_Homo sapiens_hsa050100.30221191
111Fatty acid biosynthesis_Homo sapiens_hsa000610.29617236
112Arginine and proline metabolism_Homo sapiens_hsa003300.28644396
113Protein digestion and absorption_Homo sapiens_hsa049740.25842231

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