DOC2B

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: There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.27066895
2synaptic vesicle maturation (GO:0016188)6.17777715
3locomotory exploration behavior (GO:0035641)6.14432722
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.78210302
5* positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.56707009
6vocalization behavior (GO:0071625)5.25305254
7postsynaptic membrane organization (GO:0001941)5.07053266
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.06580404
9synaptic vesicle exocytosis (GO:0016079)4.87870631
10regulation of glutamate receptor signaling pathway (GO:1900449)4.82019833
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.73075210
12ionotropic glutamate receptor signaling pathway (GO:0035235)4.71014186
13regulation of synaptic vesicle exocytosis (GO:2000300)4.67338682
14exploration behavior (GO:0035640)4.65274068
15protein localization to synapse (GO:0035418)4.61208221
16regulation of synapse structural plasticity (GO:0051823)4.60385670
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.59717897
18regulation of neuronal synaptic plasticity (GO:0048168)4.56755368
19glutamate secretion (GO:0014047)4.53086816
20layer formation in cerebral cortex (GO:0021819)4.35024736
21regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.33735893
22dendritic spine morphogenesis (GO:0060997)4.31503010
23* neurotransmitter secretion (GO:0007269)4.25515456
24regulation of synaptic vesicle transport (GO:1902803)4.21931303
25synaptic transmission, glutamatergic (GO:0035249)4.19571315
26negative regulation of synaptic transmission, GABAergic (GO:0032229)4.18964987
27cellular potassium ion homeostasis (GO:0030007)4.12474478
28long-term memory (GO:0007616)4.11092716
29glutamate receptor signaling pathway (GO:0007215)4.10581928
30regulation of synapse maturation (GO:0090128)4.09333551
31neuronal action potential propagation (GO:0019227)4.04947902
32cerebellar granule cell differentiation (GO:0021707)4.00872853
33sodium ion export (GO:0071436)3.99553139
34neurotransmitter-gated ion channel clustering (GO:0072578)3.96213409
35neuron-neuron synaptic transmission (GO:0007270)3.95205027
36gamma-aminobutyric acid transport (GO:0015812)3.92983933
37regulation of excitatory postsynaptic membrane potential (GO:0060079)3.88592812
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.87833795
39positive regulation of membrane potential (GO:0045838)3.85382890
40behavioral response to nicotine (GO:0035095)3.77633333
41neuromuscular process controlling balance (GO:0050885)3.74293705
42positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.73453314
43regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.71995102
44regulation of postsynaptic membrane potential (GO:0060078)3.69666796
45neuron cell-cell adhesion (GO:0007158)3.68543388
46regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.68093906
47prepulse inhibition (GO:0060134)3.65370648
48positive regulation of synapse maturation (GO:0090129)3.64385515
49auditory behavior (GO:0031223)3.60743937
50positive regulation of synaptic transmission, GABAergic (GO:0032230)3.57578306
51regulation of dendritic spine morphogenesis (GO:0061001)3.57366796
52neuromuscular synaptic transmission (GO:0007274)3.57166784
53activation of protein kinase A activity (GO:0034199)3.56275744
54regulation of synaptic plasticity (GO:0048167)3.53278366
55potassium ion import (GO:0010107)3.53208491
56cell migration in hindbrain (GO:0021535)3.51175983
57positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.50266220
58positive regulation of neurotransmitter transport (GO:0051590)3.50217630
59transmission of nerve impulse (GO:0019226)3.49711601
60* neurotransmitter transport (GO:0006836)3.47731214
61cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.47050347
62proline transport (GO:0015824)3.45884776
63mechanosensory behavior (GO:0007638)3.39745303
64pyrimidine nucleobase catabolic process (GO:0006208)3.36790191
65behavioral fear response (GO:0001662)3.35642234
66behavioral defense response (GO:0002209)3.35642234
67presynaptic membrane assembly (GO:0097105)3.34823273
68regulation of neurotransmitter secretion (GO:0046928)3.34022201
69neuromuscular process controlling posture (GO:0050884)3.33764289
70cerebellar Purkinje cell differentiation (GO:0021702)3.33387552
71cell communication by electrical coupling (GO:0010644)3.31413655
72response to auditory stimulus (GO:0010996)3.31291444
73positive regulation of neurotransmitter secretion (GO:0001956)3.29554975
74synaptic vesicle endocytosis (GO:0048488)3.29111400
75serotonin metabolic process (GO:0042428)3.27671430
76presynaptic membrane organization (GO:0097090)3.27400169
77regulation of clathrin-mediated endocytosis (GO:2000369)3.26827967
78axon ensheathment in central nervous system (GO:0032291)3.25793957
79central nervous system myelination (GO:0022010)3.25793957
80G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.25445876
81dendritic spine organization (GO:0097061)3.23756745
82long-term synaptic potentiation (GO:0060291)3.22961632
83regulation of synaptic transmission, glutamatergic (GO:0051966)3.22860811
84potassium ion homeostasis (GO:0055075)3.22795576
85neuron recognition (GO:0008038)3.22601909
86fear response (GO:0042596)3.22364327
87dendrite morphogenesis (GO:0048813)3.22190991
88positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21753052
89dopamine receptor signaling pathway (GO:0007212)3.21021964
90* regulation of neurotransmitter levels (GO:0001505)3.19755385
91neuronal ion channel clustering (GO:0045161)3.19391976
92glycine transport (GO:0015816)3.18972585
93membrane hyperpolarization (GO:0060081)3.18486992
94chemosensory behavior (GO:0007635)3.16988270
95innervation (GO:0060384)3.15229991
96regulation of neurotransmitter transport (GO:0051588)3.15148991
97positive regulation of dendritic spine morphogenesis (GO:0061003)3.14893904
98regulation of ARF protein signal transduction (GO:0032012)3.14470826
99regulation of female receptivity (GO:0045924)3.14036054
100primary amino compound metabolic process (GO:1901160)3.12819014
101membrane depolarization (GO:0051899)3.12381330
102membrane depolarization during action potential (GO:0086010)3.11804271
103vesicle transport along microtubule (GO:0047496)3.10867269
104response to histamine (GO:0034776)3.07306973
105learning (GO:0007612)3.06470486
106positive regulation of dendritic spine development (GO:0060999)3.06018284
107synaptic transmission (GO:0007268)3.05773941
108G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.05358309
109regulation of voltage-gated calcium channel activity (GO:1901385)3.04126347
110axonal fasciculation (GO:0007413)3.03039083
111regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.01724158
112neuromuscular process (GO:0050905)3.00739337
113mating behavior (GO:0007617)2.99949770
114nucleobase catabolic process (GO:0046113)2.98897954
115cell differentiation in hindbrain (GO:0021533)2.97305304
116striatum development (GO:0021756)2.96859569
117behavioral response to cocaine (GO:0048148)2.96782573
118positive regulation of synaptic transmission (GO:0050806)2.96204565
119positive regulation of synapse assembly (GO:0051965)2.95624949
120cellular sodium ion homeostasis (GO:0006883)2.95022375
121adult walking behavior (GO:0007628)2.93354457
122gamma-aminobutyric acid signaling pathway (GO:0007214)2.92387306
123visual learning (GO:0008542)2.92034121
124* regulation of vesicle fusion (GO:0031338)2.91358124
125detection of calcium ion (GO:0005513)2.91124980
126synapse assembly (GO:0007416)2.90523307
127multicellular organismal signaling (GO:0035637)2.88226138
128regulation of respiratory system process (GO:0044065)2.87427954
129establishment of mitochondrion localization (GO:0051654)2.86395822
130L-amino acid import (GO:0043092)2.84071837
131startle response (GO:0001964)2.82459095

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.62746708
2* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06978657
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05212530
4RARB_27405468_Chip-Seq_BRAIN_Mouse3.00104365
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94195253
6GBX2_23144817_ChIP-Seq_PC3_Human2.91916338
7DROSHA_22980978_ChIP-Seq_HELA_Human2.78364366
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78099744
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78099744
10REST_21632747_ChIP-Seq_MESCs_Mouse2.75352655
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66039755
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.58925579
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57770852
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.55783735
15IKZF1_21737484_ChIP-ChIP_HCT116_Human2.47206640
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45106770
17MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.44757151
18* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43039174
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.42212320
20* EZH2_27294783_Chip-Seq_ESCs_Mouse2.34315394
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33299242
22EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.30555569
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.30479457
24* RNF2_27304074_Chip-Seq_ESCs_Mouse2.21482770
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.16126680
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.12030213
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92354829
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.83507292
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81126000
30AR_21572438_ChIP-Seq_LNCaP_Human1.79019016
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.65044495
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60598641
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52057270
34SMAD4_21799915_ChIP-Seq_A2780_Human1.47211806
35KDM2B_26808549_Chip-Seq_K562_Human1.46859408
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.43734390
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.40378990
38RNF2_27304074_Chip-Seq_NSC_Mouse1.38890669
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.38842347
40* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38229745
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38228698
42* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.35874083
43ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35423144
44ZNF274_21170338_ChIP-Seq_K562_Hela1.35350090
45WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.32868689
46* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.29846304
47AR_19668381_ChIP-Seq_PC3_Human1.29641211
48EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.29450188
49CTBP1_25329375_ChIP-Seq_LNCAP_Human1.29093429
50RING1B_27294783_Chip-Seq_NPCs_Mouse1.27639432
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27292017
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24655176
53TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.23348596
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.23051239
55GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22449145
56TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22143569
57SOX2_21211035_ChIP-Seq_LN229_Gbm1.22068217
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19383518
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14834949
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.14834949
61VDR_22108803_ChIP-Seq_LS180_Human1.13972831
62P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12252920
63RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.12151858
64STAT3_23295773_ChIP-Seq_U87_Human1.11496776
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08981219
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.08553141
67AR_25329375_ChIP-Seq_VCAP_Human1.07327137
68ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07158749
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06208444
70ZFP281_27345836_Chip-Seq_ESCs_Mouse1.05572679
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.04958035
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03566732
73PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02099878
74TP53_20018659_ChIP-ChIP_R1E_Mouse1.01462405
75SMAD3_21741376_ChIP-Seq_HESCs_Human1.00768276
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.00119453
77P300_19829295_ChIP-Seq_ESCs_Human1.00013873
78CTCF_27219007_Chip-Seq_Bcells_Human0.99965003
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98342184
80DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98223708
81ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.98145496
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97834506
83SMAD4_21741376_ChIP-Seq_HESCs_Human0.97223706
84TCF4_23295773_ChIP-Seq_U87_Human0.95249567
85TET1_21490601_ChIP-Seq_MESCs_Mouse0.95041224
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.94981372
87CBX2_27304074_Chip-Seq_ESCs_Mouse0.94366560
88TAF15_26573619_Chip-Seq_HEK293_Human0.93161796
89ARNT_22903824_ChIP-Seq_MCF-7_Human0.92648119
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92539673
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92419452
92TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91865189
93BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90985380
94TP53_16413492_ChIP-PET_HCT116_Human0.90384219
95AHR_22903824_ChIP-Seq_MCF-7_Human0.89721352
96GATA1_26923725_Chip-Seq_HPCs_Mouse0.89570940
97OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89433005
98PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89289546
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88305965
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88045577
101PIAS1_25552417_ChIP-Seq_VCAP_Human0.87718294
102KDM2B_26808549_Chip-Seq_SUP-B15_Human0.87716995
103SMAD_19615063_ChIP-ChIP_OVARY_Human0.87390138
104SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87390033
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86718195
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86565686
107AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85720942
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84665639
109CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84292431
110RXR_22108803_ChIP-Seq_LS180_Human0.84257455
111RUNX2_22187159_ChIP-Seq_PCA_Human0.83267736
112PRDM14_20953172_ChIP-Seq_ESCs_Human0.83216236
113OCT4_19829295_ChIP-Seq_ESCs_Human0.82903989
114LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82472165
115VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.82345787
116TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.81372446
117OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.81159309
118IGF1R_20145208_ChIP-Seq_DFB_Human0.81021211
119ETV2_25802403_ChIP-Seq_MESCs_Mouse0.77479036
120MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.74839085
121KDM2B_26808549_Chip-Seq_REH_Human0.74628495

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.81804668
2MP0002822_catalepsy4.35505824
3MP0003880_abnormal_central_pattern4.16551099
4* MP0003635_abnormal_synaptic_transmissio4.15985709
5MP0004270_analgesia3.62360923
6MP0009745_abnormal_behavioral_response3.44491447
7MP0002063_abnormal_learning/memory/cond3.33910348
8MP0002064_seizures3.04728889
9MP0005423_abnormal_somatic_nervous3.01955372
10MP0009046_muscle_twitch2.96721374
11MP0002572_abnormal_emotion/affect_behav2.70701803
12MP0001968_abnormal_touch/_nociception2.54447767
13MP0002272_abnormal_nervous_system2.54319158
14MP0002734_abnormal_mechanical_nocicepti2.47647744
15MP0001486_abnormal_startle_reflex2.45747378
16MP0005551_abnormal_eye_electrophysiolog2.29492347
17MP0001501_abnormal_sleep_pattern2.16954098
18MP0001440_abnormal_grooming_behavior2.03113425
19MP0009780_abnormal_chondrocyte_physiolo2.02254279
20MP0008569_lethality_at_weaning2.01258892
21MP0002909_abnormal_adrenal_gland1.97916934
22MP0004885_abnormal_endolymph1.85918146
23MP0001970_abnormal_pain_threshold1.81049475
24MP0002733_abnormal_thermal_nociception1.80528648
25MP0002067_abnormal_sensory_capabilities1.77345080
26MP0005386_behavior/neurological_phenoty1.77134116
27MP0004924_abnormal_behavior1.77134116
28MP0002735_abnormal_chemical_nociception1.75597171
29MP0002736_abnormal_nociception_after1.75000650
30MP0002184_abnormal_innervation1.74715256
31MP0004811_abnormal_neuron_physiology1.73899454
32MP0002557_abnormal_social/conspecific_i1.70692332
33MP0000778_abnormal_nervous_system1.65623716
34MP0004858_abnormal_nervous_system1.62909952
35MP0006072_abnormal_retinal_apoptosis1.60010732
36MP0003329_amyloid_beta_deposits1.57426195
37MP0002882_abnormal_neuron_morphology1.55383469
38MP0005646_abnormal_pituitary_gland1.50309603
39MP0000955_abnormal_spinal_cord1.49356965
40MP0001502_abnormal_circadian_rhythm1.38733164
41MP0003787_abnormal_imprinting1.38334892
42MP0002066_abnormal_motor_capabilities/c1.37117705
43MP0001984_abnormal_olfaction1.37073010
44MP0005253_abnormal_eye_physiology1.35397302
45MP0003633_abnormal_nervous_system1.34576676
46MP0003879_abnormal_hair_cell1.31499819
47MP0002229_neurodegeneration1.28144492
48MP0001529_abnormal_vocalization1.25397795
49MP0000566_synostosis1.25037063
50MP0006276_abnormal_autonomic_nervous1.21705695
51MP0001485_abnormal_pinna_reflex1.18750666
52MP0004145_abnormal_muscle_electrophysio1.15716728
53MP0002090_abnormal_vision1.13393807
54MP0002152_abnormal_brain_morphology1.12218807
55MP0004130_abnormal_muscle_cell1.11871233
56MP0003631_nervous_system_phenotype1.10855685
57MP0001905_abnormal_dopamine_level1.10111373
58MP0003122_maternal_imprinting1.08522607
59MP0003283_abnormal_digestive_organ1.07632640
60MP0010386_abnormal_urinary_bladder1.06878971
61MP0008872_abnormal_physiological_respon1.05848954
62MP0002638_abnormal_pupillary_reflex1.05428593
63MP0005499_abnormal_olfactory_system1.04736516
64MP0005394_taste/olfaction_phenotype1.04736516
65MP0001188_hyperpigmentation1.03550276
66MP0008877_abnormal_DNA_methylation1.02605014
67MP0005645_abnormal_hypothalamus_physiol1.01801442
68MP0004147_increased_porphyrin_level1.01167409
69MP0004142_abnormal_muscle_tone0.99588352
70MP0002876_abnormal_thyroid_physiology0.98425816
71MP0000751_myopathy0.97261946
72MP0001348_abnormal_lacrimal_gland0.96619752
73MP0001177_atelectasis0.95847212
74MP0003075_altered_response_to0.95072323
75MP0002752_abnormal_somatic_nervous0.94122719
76MP0001986_abnormal_taste_sensitivity0.94007506
77MP0000026_abnormal_inner_ear0.93933891
78MP0002069_abnormal_eating/drinking_beha0.93363177
79MP0008961_abnormal_basal_metabolism0.91550426
80MP0000013_abnormal_adipose_tissue0.91524641
81MP0003634_abnormal_glial_cell0.88609271
82MP0004085_abnormal_heartbeat0.88504565
83MP0000569_abnormal_digit_pigmentation0.87286669
84MP0008874_decreased_physiological_sensi0.86357855
85MP0005195_abnormal_posterior_eye0.84238130
86MP0003938_abnormal_ear_development0.83123058
87MP0003632_abnormal_nervous_system0.82819761
88MP0005535_abnormal_body_temperature0.79293007
89MP0003690_abnormal_glial_cell0.78851414
90MP0005409_darkened_coat_color0.78357708
91MP0003011_delayed_dark_adaptation0.78315469
92MP0004233_abnormal_muscle_weight0.76713058
93MP0010234_abnormal_vibrissa_follicle0.76596621
94MP0004742_abnormal_vestibular_system0.75410145
95MP0000631_abnormal_neuroendocrine_gland0.73924514
96MP0005167_abnormal_blood-brain_barrier0.73295678
97MP0005187_abnormal_penis_morphology0.72138288
98MP0000579_abnormal_nail_morphology0.71863920
99MP0000920_abnormal_myelination0.69560252
100MP0002653_abnormal_ependyma_morphology0.69549665
101MP0002102_abnormal_ear_morphology0.68093172
102MP0003137_abnormal_impulse_conducting0.67422689
103MP0003136_yellow_coat_color0.66843681
104MP0005377_hearing/vestibular/ear_phenot0.66671690
105MP0003878_abnormal_ear_physiology0.66671690
106MP0003123_paternal_imprinting0.64855242
107MP0004215_abnormal_myocardial_fiber0.64640937
108MP0004133_heterotaxia0.64584895
109MP0001963_abnormal_hearing_physiology0.64489995
110MP0002234_abnormal_pharynx_morphology0.64096360
111MP0005448_abnormal_energy_balance0.63791728
112MP0000604_amyloidosis0.61597277
113MP0006292_abnormal_olfactory_placode0.60376127
114MP0005623_abnormal_meninges_morphology0.58349696
115MP0003861_abnormal_nervous_system0.57794950
116MP0003121_genomic_imprinting0.57747607
117MP0004043_abnormal_pH_regulation0.55676979
118MP0001299_abnormal_eye_distance/0.54408902
119MP0010769_abnormal_survival0.51196720

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.26755506
2Focal motor seizures (HP:0011153)6.62321312
3Focal seizures (HP:0007359)5.25796455
4Visual hallucinations (HP:0002367)5.24551804
5Action tremor (HP:0002345)4.39819136
6Progressive cerebellar ataxia (HP:0002073)4.35120927
7Epileptic encephalopathy (HP:0200134)3.99520323
8Central scotoma (HP:0000603)3.74948497
9Febrile seizures (HP:0002373)3.72071513
10Absence seizures (HP:0002121)3.58179558
11Atonic seizures (HP:0010819)3.43750710
12Supranuclear gaze palsy (HP:0000605)3.43540030
13Dysdiadochokinesis (HP:0002075)3.42847156
14Generalized tonic-clonic seizures (HP:0002069)3.40214192
15Depression (HP:0000716)3.40110485
16Broad-based gait (HP:0002136)3.37124196
17Poor eye contact (HP:0000817)3.26949987
18Ankle clonus (HP:0011448)3.24949320
19Gaze-evoked nystagmus (HP:0000640)3.24422459
20Dialeptic seizures (HP:0011146)3.21582608
21Abnormality of the lower motor neuron (HP:0002366)3.17732574
22Congenital stationary night blindness (HP:0007642)3.17560639
23Mutism (HP:0002300)3.16284791
24Anxiety (HP:0000739)3.12953206
25Impaired vibration sensation in the lower limbs (HP:0002166)3.07253803
26Dysmetria (HP:0001310)3.03198738
27Impaired social interactions (HP:0000735)3.02664894
28Abnormal social behavior (HP:0012433)3.02664894
29Postural instability (HP:0002172)2.99830012
30Torticollis (HP:0000473)2.97740957
31Truncal ataxia (HP:0002078)2.90995953
32Polyphagia (HP:0002591)2.90036159
33Genetic anticipation (HP:0003743)2.85611315
34Absent rod-and cone-mediated responses on ERG (HP:0007688)2.83446968
35Scotoma (HP:0000575)2.81855953
36Papilledema (HP:0001085)2.80314172
37Urinary bladder sphincter dysfunction (HP:0002839)2.78808795
38Obstructive sleep apnea (HP:0002870)2.78246174
39Sleep apnea (HP:0010535)2.77220662
40Abnormality of macular pigmentation (HP:0008002)2.76974038
41Akinesia (HP:0002304)2.76543008
42Intention tremor (HP:0002080)2.76003499
43Impaired smooth pursuit (HP:0007772)2.75998554
44Abnormal rod and cone electroretinograms (HP:0008323)2.73565757
45Focal dystonia (HP:0004373)2.73107535
46Bony spicule pigmentary retinopathy (HP:0007737)2.71792297
47Annular pancreas (HP:0001734)2.69846992
48Scanning speech (HP:0002168)2.65632254
49Amblyopia (HP:0000646)2.60474133
50Abnormal eating behavior (HP:0100738)2.58593932
51Hemiplegia (HP:0002301)2.58110630
52Dysmetric saccades (HP:0000641)2.55389553
53Ventricular fibrillation (HP:0001663)2.52541436
54Stereotypic behavior (HP:0000733)2.52209396
55Morphological abnormality of the pyramidal tract (HP:0002062)2.51786302
56Abnormality of ocular smooth pursuit (HP:0000617)2.46931526
57Hemiparesis (HP:0001269)2.45843363
58Craniofacial dystonia (HP:0012179)2.44668555
59Excessive salivation (HP:0003781)2.40916571
60Drooling (HP:0002307)2.40916571
61Pointed chin (HP:0000307)2.40769260
62Urinary urgency (HP:0000012)2.37587243
63Spastic gait (HP:0002064)2.37108650
64Megalencephaly (HP:0001355)2.35187016
65Bradykinesia (HP:0002067)2.34924065
66Dyschromatopsia (HP:0007641)2.31069977
67Insomnia (HP:0100785)2.28668698
68Abnormality of binocular vision (HP:0011514)2.28106969
69Diplopia (HP:0000651)2.28106969
70Posterior subcapsular cataract (HP:0007787)2.27238576
71Cerebral inclusion bodies (HP:0100314)2.23658135
72Inability to walk (HP:0002540)2.21581915
73Neurofibrillary tangles (HP:0002185)2.21219365
74Spastic tetraparesis (HP:0001285)2.20921294
75Cerebral hypomyelination (HP:0006808)2.19182037
76Amyotrophic lateral sclerosis (HP:0007354)2.17651422
77Hyperventilation (HP:0002883)2.15382091
78Chorioretinal atrophy (HP:0000533)2.11782129
79Abnormality of the corticospinal tract (HP:0002492)2.10499993
80Abolished electroretinogram (ERG) (HP:0000550)2.10459251
81Ankyloglossia (HP:0010296)2.10260163
82Ulnar claw (HP:0001178)2.09704591
83Absent speech (HP:0001344)2.07754872
84Type II lissencephaly (HP:0007260)2.05204219
85Decreased central vision (HP:0007663)2.04611646
86Impaired vibratory sensation (HP:0002495)2.04384677
87Abnormal drinking behavior (HP:0030082)2.04198230
88Polydipsia (HP:0001959)2.04198230
89Status epilepticus (HP:0002133)2.03471828
90Fetal akinesia sequence (HP:0001989)2.03248008
91Abnormal EKG (HP:0003115)2.02702436
92Agitation (HP:0000713)2.01990338
93Gait imbalance (HP:0002141)2.01255920
94Epileptiform EEG discharges (HP:0011182)2.00799526
95Progressive inability to walk (HP:0002505)1.99861508
96Lower limb muscle weakness (HP:0007340)1.98832517
97Pendular nystagmus (HP:0012043)1.96568654
98Split foot (HP:0001839)1.96378430
99EEG with generalized epileptiform discharges (HP:0011198)1.95761179
100Limb dystonia (HP:0002451)1.94196335
101Resting tremor (HP:0002322)1.94147837
102Choroideremia (HP:0001139)1.92157882
103Syncope (HP:0001279)1.89337033
104Pigmentary retinal degeneration (HP:0001146)1.88905565
105Bundle branch block (HP:0011710)1.88049517
106Hypsarrhythmia (HP:0002521)1.88004361
107Lower limb asymmetry (HP:0100559)1.87718369
108Prolonged QT interval (HP:0001657)1.87055733
109Horizontal nystagmus (HP:0000666)1.86492069
110Protruding tongue (HP:0010808)1.85506461
111Clonus (HP:0002169)1.85141720
112Inappropriate behavior (HP:0000719)1.83854063
113Lower limb amyotrophy (HP:0007210)1.83414317
114Insidious onset (HP:0003587)1.83142959
115Termporal pattern (HP:0011008)1.83142959
116Incomplete penetrance (HP:0003829)1.83064491
117Gait ataxia (HP:0002066)1.82667974
118Type II diabetes mellitus (HP:0005978)1.80082301
119Nephronophthisis (HP:0000090)1.79039797
120Aplasia involving bones of the extremities (HP:0009825)1.78077032
121Aplasia involving bones of the upper limbs (HP:0009823)1.78077032
122Aplasia of the phalanges of the hand (HP:0009802)1.78077032
123Retinal dysplasia (HP:0007973)1.74234566
124Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.73497238
125Degeneration of the lateral corticospinal tracts (HP:0002314)1.73497238
126Spastic tetraplegia (HP:0002510)1.70584851
127Decreased circulating renin level (HP:0003351)1.70095492
128Molar tooth sign on MRI (HP:0002419)1.69934778
129Abnormality of midbrain morphology (HP:0002418)1.69934778
130Lissencephaly (HP:0001339)1.65182009
131Tetraplegia (HP:0002445)1.64352780
132Specific learning disability (HP:0001328)1.64328637

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.51883762
2NTRK34.51436755
3MAP3K93.82154949
4MARK13.13158972
5MINK12.75790193
6MAP3K42.68393862
7PRKD32.54198176
8KSR22.42328001
9DAPK22.29888224
10CAMKK12.24775313
11NTRK22.21595883
12PAK62.21012747
13NTRK12.03259345
14MAP2K71.94474635
15KSR11.80363616
16STK381.71771397
17RIPK41.70832945
18MAP2K41.63649943
19SIK21.60811018
20CDK51.60552775
21MAP3K21.39735506
22PRPF4B1.37111786
23FES1.36406322
24TYRO31.33846829
25ADRBK21.32330143
26DAPK11.28509257
27TNIK1.27146868
28PNCK1.25768134
29CAMKK21.24904525
30GRK51.23981890
31MAP3K131.23412001
32PRKCG1.22040992
33DYRK21.20325204
34OXSR11.19951917
35ARAF1.19694787
36TAOK11.19035262
37MAP3K121.11311749
38PLK21.08489055
39PINK11.07442004
40PRKCH1.06541444
41MAPK131.06513173
42RIPK11.05476638
43SGK2231.04434985
44SGK4941.04434985
45PHKG21.03351314
46PHKG11.03351314
47FRK1.02471626
48UHMK10.99113161
49WNK40.98858630
50CAMK10.97761460
51PKN10.97224139
52STK110.94414595
53ALK0.92660466
54CAMK2A0.91807896
55CDK180.91334415
56CDK150.90892632
57LATS20.90340604
58RET0.89090164
59MAPK150.86504412
60CDK140.86221778
61SGK30.85791875
62TLK10.84649873
63SGK20.83926687
64PTK2B0.83246549
65LMTK20.80774731
66CDK11A0.79508900
67RAF10.79505996
68FGFR20.77736116
69CAMK2B0.77554775
70SGK10.76600436
71PIK3CA0.74161813
72CDK190.74158856
73MARK20.73549545
74WNK10.72692467
75CAMK1G0.71609661
76DYRK1A0.71321027
77PDK10.70454191
78MAP2K60.67427880
79PAK30.65698750
80NEK10.65026296
81CAMK1D0.65023622
82WNK30.62736663
83MAP3K10.62490188
84BMPR1B0.62372432
85MAP3K110.61322010
86PDPK10.61045666
87PRKCZ0.60040889
88CSNK1G20.58910483
89RPS6KA30.58770613
90SCYL20.56940270
91FYN0.56868707
92CAMK40.55058154
93TNK20.54553416
94CDC42BPA0.53611851
95MAP3K70.51569475
96MAPK100.49513184
97MAPKAPK50.47351154
98CAMK2D0.45634783
99ICK0.45332058
100ADRBK10.45179722
101PRKACA0.45022865
102BMPR20.44239623
103NEK60.43032331
104MAP3K60.42623627
105MAP2K10.42371883
106DMPK0.42088629
107STK390.41157391
108ERBB20.39673508
109PRKG10.39369369
110PRKCB0.39300289
111CASK0.39075456
112FER0.38784892
113CAMK2G0.38524056
114PRKCA0.38442883
115PRKCE0.38355965
116RPS6KA20.36789928
117PDGFRA0.36223763
118LIMK10.36189191
119PRKD20.36072143
120PRKAA10.34713547
121CSNK1D0.34695259
122MAPK120.34453683
123MAPKAPK30.34335993
124BRSK10.34190763
125CSNK1A10.33765113
126EPHB20.33627075
127TAOK30.33599659
128GRK10.33309204
129MAPK80.31883325

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.29061265
2Synaptic vesicle cycle_Homo sapiens_hsa047212.95406429
3Olfactory transduction_Homo sapiens_hsa047402.90969928
4Phototransduction_Homo sapiens_hsa047442.83177521
5Circadian entrainment_Homo sapiens_hsa047132.74519517
6Long-term potentiation_Homo sapiens_hsa047202.70025473
7GABAergic synapse_Homo sapiens_hsa047272.69263840
8Glutamatergic synapse_Homo sapiens_hsa047242.60708370
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.51602422
10Amphetamine addiction_Homo sapiens_hsa050312.45849671
11Morphine addiction_Homo sapiens_hsa050322.44264942
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25336897
13Dopaminergic synapse_Homo sapiens_hsa047282.22975662
14Salivary secretion_Homo sapiens_hsa049702.13261206
15Cholinergic synapse_Homo sapiens_hsa047252.07024080
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.99017880
17Insulin secretion_Homo sapiens_hsa049111.90812713
18Gastric acid secretion_Homo sapiens_hsa049711.88635334
19Cocaine addiction_Homo sapiens_hsa050301.83440764
20Renin secretion_Homo sapiens_hsa049241.69696104
21Long-term depression_Homo sapiens_hsa047301.69323886
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68015878
23Oxytocin signaling pathway_Homo sapiens_hsa049211.66052859
24Serotonergic synapse_Homo sapiens_hsa047261.58004190
25Taste transduction_Homo sapiens_hsa047421.56669390
26Calcium signaling pathway_Homo sapiens_hsa040201.52984239
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50935947
28GnRH signaling pathway_Homo sapiens_hsa049121.46924982
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.37069479
30Gap junction_Homo sapiens_hsa045401.36198660
31cAMP signaling pathway_Homo sapiens_hsa040241.31751923
32Nitrogen metabolism_Homo sapiens_hsa009101.27725256
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25330608
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24059371
35Type II diabetes mellitus_Homo sapiens_hsa049301.24051965
36Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19976243
37Glioma_Homo sapiens_hsa052141.17449333
38Estrogen signaling pathway_Homo sapiens_hsa049151.17388197
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.11875991
40Axon guidance_Homo sapiens_hsa043601.01817638
41Melanogenesis_Homo sapiens_hsa049161.01786490
42ErbB signaling pathway_Homo sapiens_hsa040120.95068264
43Pancreatic secretion_Homo sapiens_hsa049720.93625067
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.93270746
45Oocyte meiosis_Homo sapiens_hsa041140.91605981
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.90849473
47Thyroid hormone synthesis_Homo sapiens_hsa049180.88765031
48Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.88642450
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87064504
50Linoleic acid metabolism_Homo sapiens_hsa005910.83481900
51Dorso-ventral axis formation_Homo sapiens_hsa043200.82366382
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.81386998
53Vitamin B6 metabolism_Homo sapiens_hsa007500.80533312
54Collecting duct acid secretion_Homo sapiens_hsa049660.80516989
55Cardiac muscle contraction_Homo sapiens_hsa042600.79920757
56Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79799173
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76599715
58Choline metabolism in cancer_Homo sapiens_hsa052310.75208852
59Dilated cardiomyopathy_Homo sapiens_hsa054140.74289129
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73296933
61Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73225001
62Ether lipid metabolism_Homo sapiens_hsa005650.72926212
63VEGF signaling pathway_Homo sapiens_hsa043700.70878342
64mTOR signaling pathway_Homo sapiens_hsa041500.69239125
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.68252436
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.66550650
67MAPK signaling pathway_Homo sapiens_hsa040100.66438181
68Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64365861
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62918483
70Bile secretion_Homo sapiens_hsa049760.62691920
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61388916
72Alcoholism_Homo sapiens_hsa050340.61011400
73Glucagon signaling pathway_Homo sapiens_hsa049220.60502516
74Non-small cell lung cancer_Homo sapiens_hsa052230.60476952
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59438737
76Rap1 signaling pathway_Homo sapiens_hsa040150.56482450
77ABC transporters_Homo sapiens_hsa020100.55688327
78Alzheimers disease_Homo sapiens_hsa050100.54556522
79Vibrio cholerae infection_Homo sapiens_hsa051100.54232084
80Ras signaling pathway_Homo sapiens_hsa040140.53240075
81Histidine metabolism_Homo sapiens_hsa003400.53155047
82Inositol phosphate metabolism_Homo sapiens_hsa005620.51963454
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51729955
84Endometrial cancer_Homo sapiens_hsa052130.50792690
85Circadian rhythm_Homo sapiens_hsa047100.50574596
86Butanoate metabolism_Homo sapiens_hsa006500.50317993
87Sphingolipid signaling pathway_Homo sapiens_hsa040710.50071517
88Fatty acid biosynthesis_Homo sapiens_hsa000610.49663748
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48651104
90Endocytosis_Homo sapiens_hsa041440.47537558
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43933560
92Renal cell carcinoma_Homo sapiens_hsa052110.43436378
93Glycerolipid metabolism_Homo sapiens_hsa005610.42532629
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42529784
95Ovarian steroidogenesis_Homo sapiens_hsa049130.41528750
96Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40650041
97Wnt signaling pathway_Homo sapiens_hsa043100.40216527
98Insulin signaling pathway_Homo sapiens_hsa049100.39309163
99Chemokine signaling pathway_Homo sapiens_hsa040620.38514675
100Mineral absorption_Homo sapiens_hsa049780.38152026
101Type I diabetes mellitus_Homo sapiens_hsa049400.37995063
102Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37935396
103Prion diseases_Homo sapiens_hsa050200.37713245
104Arginine and proline metabolism_Homo sapiens_hsa003300.37467861
105Hedgehog signaling pathway_Homo sapiens_hsa043400.37367482
106Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35761950
107Oxidative phosphorylation_Homo sapiens_hsa001900.34552360
108Tryptophan metabolism_Homo sapiens_hsa003800.34231735
109Hippo signaling pathway_Homo sapiens_hsa043900.32599536
110Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32506018
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30503312
112African trypanosomiasis_Homo sapiens_hsa051430.30415748
113Protein digestion and absorption_Homo sapiens_hsa049740.30103596
114Central carbon metabolism in cancer_Homo sapiens_hsa052300.28835835
115Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.28004104
116Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27850077
117Platelet activation_Homo sapiens_hsa046110.26706026
118Cyanoamino acid metabolism_Homo sapiens_hsa004600.26613766
119Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25662056
120Parkinsons disease_Homo sapiens_hsa050120.25550803
121Tight junction_Homo sapiens_hsa045300.24587674
122Glycerophospholipid metabolism_Homo sapiens_hsa005640.22916245

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