DOC2A

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. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)7.38972550
2synaptic vesicle maturation (GO:0016188)6.74813184
3glutamate secretion (GO:0014047)6.38460472
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.06115911
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.03400077
6* synaptic vesicle exocytosis (GO:0016079)5.94591578
7regulation of synaptic vesicle exocytosis (GO:2000300)5.83861153
8locomotory exploration behavior (GO:0035641)5.81212346
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.79841853
10vocalization behavior (GO:0071625)5.76387904
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.65453997
12protein localization to synapse (GO:0035418)5.31413709
13regulation of glutamate receptor signaling pathway (GO:1900449)5.22963505
14regulation of synaptic vesicle transport (GO:1902803)5.21231779
15neurotransmitter secretion (GO:0007269)5.02755827
16layer formation in cerebral cortex (GO:0021819)4.93579156
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.91323657
18neuron cell-cell adhesion (GO:0007158)4.89287394
19regulation of neuronal synaptic plasticity (GO:0048168)4.87644539
20neuronal action potential propagation (GO:0019227)4.84634440
21exploration behavior (GO:0035640)4.67729818
22dendritic spine morphogenesis (GO:0060997)4.66965048
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.61588344
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.30018069
25proline transport (GO:0015824)4.29954925
26synaptic transmission, glutamatergic (GO:0035249)4.21514036
27positive regulation of synapse maturation (GO:0090129)4.14303976
28positive regulation of membrane potential (GO:0045838)4.13852913
29glutamate receptor signaling pathway (GO:0007215)4.12687085
30neuron recognition (GO:0008038)4.10298501
31synaptic vesicle endocytosis (GO:0048488)4.07025299
32neurotransmitter transport (GO:0006836)4.04972240
33regulation of synapse structural plasticity (GO:0051823)3.98535785
34central nervous system myelination (GO:0022010)3.98426386
35axon ensheathment in central nervous system (GO:0032291)3.98426386
36neuron-neuron synaptic transmission (GO:0007270)3.97401106
37behavioral response to nicotine (GO:0035095)3.96102546
38neurotransmitter-gated ion channel clustering (GO:0072578)3.90043037
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.87949173
40positive regulation of neurotransmitter secretion (GO:0001956)3.87358702
41axonal fasciculation (GO:0007413)3.83013771
42gamma-aminobutyric acid transport (GO:0015812)3.82732485
43regulation of synaptic plasticity (GO:0048167)3.76737070
44long-term memory (GO:0007616)3.75372747
45regulation of postsynaptic membrane potential (GO:0060078)3.74688753
46regulation of neurotransmitter secretion (GO:0046928)3.72070495
47G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.68770253
48regulation of neurotransmitter levels (GO:0001505)3.68019257
49activation of protein kinase A activity (GO:0034199)3.66289803
50postsynaptic membrane organization (GO:0001941)3.64152927
51regulation of dendritic spine morphogenesis (GO:0061001)3.63556139
52membrane depolarization during action potential (GO:0086010)3.62495499
53negative regulation of synaptic transmission, GABAergic (GO:0032229)3.55554828
54neuromuscular process controlling posture (GO:0050884)3.54668040
55regulation of voltage-gated calcium channel activity (GO:1901385)3.52639907
56neuromuscular synaptic transmission (GO:0007274)3.51935162
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.50421964
58positive regulation of neurotransmitter transport (GO:0051590)3.49280873
59regulation of vesicle fusion (GO:0031338)3.48442561
60potassium ion import (GO:0010107)3.46247342
61cellular potassium ion homeostasis (GO:0030007)3.44574115
62transmission of nerve impulse (GO:0019226)3.42343649
63membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.39398666
64negative regulation of microtubule polymerization (GO:0031115)3.38477522
65neuromuscular process controlling balance (GO:0050885)3.36908124
66cochlea development (GO:0090102)3.36402862
67positive regulation of dendritic spine development (GO:0060999)3.35858856
68gamma-aminobutyric acid signaling pathway (GO:0007214)3.33763700
69regulation of neurotransmitter transport (GO:0051588)3.32804104
70dendritic spine organization (GO:0097061)3.29902685
71glycine transport (GO:0015816)3.23712923
72positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.23218217
73positive regulation of synaptic transmission, GABAergic (GO:0032230)3.22815504
74long-term synaptic potentiation (GO:0060291)3.20654615
75regulation of dendritic spine development (GO:0060998)3.20186340
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.18875995
77serotonin metabolic process (GO:0042428)3.18444112
78intraspecies interaction between organisms (GO:0051703)3.16457033
79social behavior (GO:0035176)3.16457033
80positive regulation of dendritic spine morphogenesis (GO:0061003)3.15908509
81sodium ion export (GO:0071436)3.15434450
82primary amino compound metabolic process (GO:1901160)3.10970998
83cell migration in hindbrain (GO:0021535)3.10039209
84regulation of synapse maturation (GO:0090128)3.10015017
85regulation of synaptic transmission (GO:0050804)3.09961144
86cell communication by electrical coupling (GO:0010644)3.09740048
87neuronal ion channel clustering (GO:0045161)3.09704233
88cerebellar Purkinje cell layer development (GO:0021680)3.07906125
89cellular potassium ion transport (GO:0071804)3.07689189
90potassium ion transmembrane transport (GO:0071805)3.07689189
91membrane depolarization (GO:0051899)3.07402118
92vesicle transport along microtubule (GO:0047496)3.06097786
93cerebellar granule cell differentiation (GO:0021707)3.05838798
94presynaptic membrane assembly (GO:0097105)3.05447342
95dendrite morphogenesis (GO:0048813)3.04979788
96auditory behavior (GO:0031223)3.04445586
97startle response (GO:0001964)3.04155685
98cerebellar Purkinje cell differentiation (GO:0021702)3.03516593
99L-amino acid import (GO:0043092)3.02888413
100learning (GO:0007612)3.01912521
101chemosensory behavior (GO:0007635)3.01751252
102regulation of synaptic transmission, glutamatergic (GO:0051966)3.01249031
103membrane hyperpolarization (GO:0060081)3.01155571
104organelle transport along microtubule (GO:0072384)3.00609917
105response to auditory stimulus (GO:0010996)3.00592997
106* synaptic transmission (GO:0007268)2.99081658
107innervation (GO:0060384)2.98597517
108regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98349375
109positive regulation of synaptic transmission (GO:0050806)2.98288460
110regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.97548913
111* regulation of calcium ion-dependent exocytosis (GO:0017158)2.97172718
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96821180
113potassium ion homeostasis (GO:0055075)2.95239255
114synapse assembly (GO:0007416)2.95226568
115retinal cone cell development (GO:0046549)2.95113142
116behavioral defense response (GO:0002209)2.94102958
117behavioral fear response (GO:0001662)2.94102958
118neuromuscular process (GO:0050905)2.93739204
119phosphorelay signal transduction system (GO:0000160)2.93646945
120presynaptic membrane organization (GO:0097090)2.91593847
121calcium ion-dependent exocytosis (GO:0017156)2.88180393
122neurotransmitter uptake (GO:0001504)2.83770648
123fear response (GO:0042596)2.82473951
124potassium ion transport (GO:0006813)2.82130553
125C4-dicarboxylate transport (GO:0015740)2.77838839
126acidic amino acid transport (GO:0015800)2.77819186
127amino acid import (GO:0043090)2.77778273
128signal release (GO:0023061)2.76433325

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.09536745
2JARID2_20064375_ChIP-Seq_MESCs_Mouse3.37187003
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.29772500
4GBX2_23144817_ChIP-Seq_PC3_Human3.26554275
5REST_21632747_ChIP-Seq_MESCs_Mouse3.21143313
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.13940537
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.01574144
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.96446591
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.96446591
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.91332058
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.86350115
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.78887750
13DROSHA_22980978_ChIP-Seq_HELA_Human2.72572844
14REST_18959480_ChIP-ChIP_MESCs_Mouse2.68947902
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.68712677
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.68435783
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.60260955
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.60248016
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56449817
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.48904692
21SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48460600
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.46630211
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.46405309
24* EZH2_27294783_Chip-Seq_ESCs_Mouse2.36808746
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.36215217
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.35431331
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19592876
28IKZF1_21737484_ChIP-ChIP_HCT116_Human2.13782497
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.09101482
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.95225974
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.75491096
32RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.70683492
33AR_21572438_ChIP-Seq_LNCaP_Human1.70290656
34ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.69613204
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68941859
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.66256314
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.54877878
38* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46769039
39TAF15_26573619_Chip-Seq_HEK293_Human1.46274456
40CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.45897615
41ZNF274_21170338_ChIP-Seq_K562_Hela1.44468274
42GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.40809097
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.40063089
44* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.39066773
45SMAD4_21799915_ChIP-Seq_A2780_Human1.38206033
46RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.34971589
47VDR_22108803_ChIP-Seq_LS180_Human1.28457470
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.27636716
49ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.26393522
50* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.26083223
51WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.25430247
52E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.25058816
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.23401389
54TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23401389
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.21938005
56RING1B_27294783_Chip-Seq_NPCs_Mouse1.21494416
57PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.19800743
58CBX2_27304074_Chip-Seq_ESCs_Mouse1.16449943
59SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16016579
60BMI1_23680149_ChIP-Seq_NPCS_Mouse1.15761735
61KDM2B_26808549_Chip-Seq_K562_Human1.15698639
62AR_19668381_ChIP-Seq_PC3_Human1.10779561
63SMAD3_21741376_ChIP-Seq_EPCs_Human1.10300846
64P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09403481
65GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09371353
66ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09309100
67ZFP57_27257070_Chip-Seq_ESCs_Mouse1.09134109
68RNF2_27304074_Chip-Seq_NSC_Mouse1.09057633
69TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06560122
70P300_19829295_ChIP-Seq_ESCs_Human1.06315729
71TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.06027054
72AR_25329375_ChIP-Seq_VCAP_Human1.05735371
73OCT4_19829295_ChIP-Seq_ESCs_Human1.05413480
74TET1_21490601_ChIP-Seq_MESCs_Mouse1.05235975
75NR3C1_23031785_ChIP-Seq_PC12_Mouse1.01842656
76WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01240925
77CTCF_27219007_Chip-Seq_Bcells_Human0.99598429
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.98297886
79TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97870789
80YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97638588
81ETV2_25802403_ChIP-Seq_MESCs_Mouse0.97441592
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96523199
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96052239
84CTCF_20526341_ChIP-Seq_ESCs_Human0.94970530
85ERA_21632823_ChIP-Seq_H3396_Human0.94854959
86GATA1_26923725_Chip-Seq_HPCs_Mouse0.94484584
87MYC_19829295_ChIP-Seq_ESCs_Human0.94065609
88* P68_20966046_ChIP-Seq_HELA_Human0.94063767
89CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.92035960
90MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.91610225
91GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91571389
92OCT4_20526341_ChIP-Seq_ESCs_Human0.91463818
93OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90910810
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.90895301
95TP53_20018659_ChIP-ChIP_R1E_Mouse0.90605977
96SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90178316
97TAF2_19829295_ChIP-Seq_ESCs_Human0.89964884
98MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89903036
99SMAD3_21741376_ChIP-Seq_ESCs_Human0.88628318
100TP53_22573176_ChIP-Seq_HFKS_Human0.87538074
101SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.86840135
102STAT3_23295773_ChIP-Seq_U87_Human0.86301499
103EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.86147776
104TCF4_23295773_ChIP-Seq_U87_Human0.85901699
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85876426
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85499715
107LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85105020
108TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.83641135
109PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.83191024
110NCOR_22424771_ChIP-Seq_293T_Human0.83020542
111FUS_26573619_Chip-Seq_HEK293_Human0.82749877
112* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.81836830
113FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.81776208
114IGF1R_20145208_ChIP-Seq_DFB_Human0.81513876
115JUN_21703547_ChIP-Seq_K562_Human0.80952830
116KLF4_19829295_ChIP-Seq_ESCs_Human0.79615119
117HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.79336556
118* GATA3_21878914_ChIP-Seq_MCF-7_Human0.78043439
119PRDM14_20953172_ChIP-Seq_ESCs_Human0.76845390
120SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.76758922
121TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.73801963
122SMAD_19615063_ChIP-ChIP_OVARY_Human0.73718254
123SMAD4_21741376_ChIP-Seq_HESCs_Human0.73082055
124SMAD3_21741376_ChIP-Seq_HESCs_Human0.72796399
125POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.70308194
126RUNX2_22187159_ChIP-Seq_PCA_Human0.68887919

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.70771371
2MP0003880_abnormal_central_pattern5.98627802
3* MP0003635_abnormal_synaptic_transmissio4.19214891
4MP0004270_analgesia3.73054144
5MP0005423_abnormal_somatic_nervous3.69290447
6* MP0002063_abnormal_learning/memory/cond3.35928668
7MP0009745_abnormal_behavioral_response3.26524044
8MP0002064_seizures3.16982428
9MP0001968_abnormal_touch/_nociception3.04988416
10MP0009046_muscle_twitch2.73929637
11MP0002572_abnormal_emotion/affect_behav2.69457394
12MP0002734_abnormal_mechanical_nocicepti2.59738295
13MP0001486_abnormal_startle_reflex2.52093454
14MP0009780_abnormal_chondrocyte_physiolo2.47830958
15MP0002272_abnormal_nervous_system2.42133654
16MP0002736_abnormal_nociception_after2.32081515
17MP0001440_abnormal_grooming_behavior2.24595098
18MP0001501_abnormal_sleep_pattern2.07907477
19MP0003329_amyloid_beta_deposits2.07565491
20MP0000778_abnormal_nervous_system2.01737835
21MP0006276_abnormal_autonomic_nervous1.99882891
22MP0002735_abnormal_chemical_nociception1.94420837
23MP0004811_abnormal_neuron_physiology1.91123492
24MP0001970_abnormal_pain_threshold1.90667881
25MP0002733_abnormal_thermal_nociception1.88215637
26MP0002184_abnormal_innervation1.84020220
27MP0002067_abnormal_sensory_capabilities1.83043102
28MP0004858_abnormal_nervous_system1.81953771
29MP0000955_abnormal_spinal_cord1.72518050
30MP0002557_abnormal_social/conspecific_i1.72231388
31MP0008569_lethality_at_weaning1.71704480
32MP0004924_abnormal_behavior1.67234237
33MP0005386_behavior/neurological_phenoty1.67234237
34MP0003122_maternal_imprinting1.64502482
35MP0002653_abnormal_ependyma_morphology1.59305212
36MP0005645_abnormal_hypothalamus_physiol1.58087989
37MP0001986_abnormal_taste_sensitivity1.54707648
38MP0003879_abnormal_hair_cell1.52827819
39MP0002822_catalepsy1.48787652
40MP0002882_abnormal_neuron_morphology1.47069408
41MP0002066_abnormal_motor_capabilities/c1.41433859
42MP0002638_abnormal_pupillary_reflex1.40907596
43MP0003787_abnormal_imprinting1.38274834
44MP0004885_abnormal_endolymph1.37081249
45MP0001485_abnormal_pinna_reflex1.36777857
46MP0001529_abnormal_vocalization1.36438558
47MP0001984_abnormal_olfaction1.33632426
48MP0004142_abnormal_muscle_tone1.30868548
49MP0005646_abnormal_pituitary_gland1.30364275
50MP0002909_abnormal_adrenal_gland1.29031154
51MP0001905_abnormal_dopamine_level1.24580577
52MP0001502_abnormal_circadian_rhythm1.24079116
53MP0002152_abnormal_brain_morphology1.22509708
54MP0004147_increased_porphyrin_level1.20457483
55MP0008872_abnormal_physiological_respon1.17798145
56MP0003633_abnormal_nervous_system1.17250444
57MP0003123_paternal_imprinting1.14762455
58MP0003283_abnormal_digestive_organ1.10028887
59MP0006292_abnormal_olfactory_placode1.08123992
60MP0003631_nervous_system_phenotype1.04686062
61MP0004043_abnormal_pH_regulation0.98785607
62MP0002069_abnormal_eating/drinking_beha0.92700035
63MP0003136_yellow_coat_color0.90954691
64MP0008875_abnormal_xenobiotic_pharmacok0.90382150
65MP0006072_abnormal_retinal_apoptosis0.90098277
66MP0010386_abnormal_urinary_bladder0.88366860
67MP0003878_abnormal_ear_physiology0.88125006
68MP0005377_hearing/vestibular/ear_phenot0.88125006
69MP0002837_dystrophic_cardiac_calcinosis0.87901251
70MP0005623_abnormal_meninges_morphology0.84818938
71MP0005253_abnormal_eye_physiology0.84629981
72MP0002229_neurodegeneration0.84410767
73MP0000751_myopathy0.84382734
74MP0000604_amyloidosis0.83917031
75MP0003137_abnormal_impulse_conducting0.83838283
76MP0003121_genomic_imprinting0.83345884
77MP0005394_taste/olfaction_phenotype0.82535704
78MP0005499_abnormal_olfactory_system0.82535704
79MP0003634_abnormal_glial_cell0.82507536
80MP0000631_abnormal_neuroendocrine_gland0.81506456
81MP0000920_abnormal_myelination0.81086232
82MP0002752_abnormal_somatic_nervous0.81025324
83MP0004145_abnormal_muscle_electrophysio0.80044337
84MP0008874_decreased_physiological_sensi0.79937441
85MP0003119_abnormal_digestive_system0.79483143
86MP0001963_abnormal_hearing_physiology0.79435844
87MP0003938_abnormal_ear_development0.79374065
88MP0003861_abnormal_nervous_system0.79280102
89MP0003632_abnormal_nervous_system0.78707548
90MP0001188_hyperpigmentation0.77317838
91MP0002234_abnormal_pharynx_morphology0.76720291
92MP0001177_atelectasis0.76237103
93MP0004742_abnormal_vestibular_system0.74815328
94MP0003690_abnormal_glial_cell0.74253951
95MP0005410_abnormal_fertilization0.74093932
96MP0002160_abnormal_reproductive_system0.73791553
97MP0001346_abnormal_lacrimal_gland0.72706300
98MP0008961_abnormal_basal_metabolism0.71210472
99MP0004233_abnormal_muscle_weight0.68232902
100MP0008877_abnormal_DNA_methylation0.66437478
101MP0005174_abnormal_tail_pigmentation0.66309047
102MP0003698_abnormal_male_reproductive0.62902706
103MP0002876_abnormal_thyroid_physiology0.62421540
104MP0001943_abnormal_respiration0.61920326
105MP0002751_abnormal_autonomic_nervous0.61669138
106MP0002102_abnormal_ear_morphology0.61636639
107MP0000566_synostosis0.61597744
108MP0005167_abnormal_blood-brain_barrier0.60634008
109MP0002089_abnormal_postnatal_growth/wei0.60434305
110MP0010769_abnormal_survival0.60049411
111MP0005551_abnormal_eye_electrophysiolog0.59381624
112MP0003075_altered_response_to0.59219265
113MP0005535_abnormal_body_temperature0.58652923
114MP0001765_abnormal_ion_homeostasis0.58247064
115MP0004085_abnormal_heartbeat0.58238933
116MP0000569_abnormal_digit_pigmentation0.57909807
117MP0010770_preweaning_lethality0.57339406
118MP0002082_postnatal_lethality0.57339406
119MP0004133_heterotaxia0.56964053
120MP0001299_abnormal_eye_distance/0.56829953
121MP0001664_abnormal_digestion0.56631494
122MP0000013_abnormal_adipose_tissue0.56360319
123MP0010768_mortality/aging0.56145379
124MP0005187_abnormal_penis_morphology0.55762904
125MP0000026_abnormal_inner_ear0.55335255

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.17525407
2Myokymia (HP:0002411)7.09325649
3Focal seizures (HP:0007359)5.80513227
4Visual hallucinations (HP:0002367)5.73470559
5Epileptic encephalopathy (HP:0200134)4.59747273
6Atonic seizures (HP:0010819)4.28134325
7Supranuclear gaze palsy (HP:0000605)4.00997079
8Progressive cerebellar ataxia (HP:0002073)3.90805193
9Absence seizures (HP:0002121)3.85140172
10Ankle clonus (HP:0011448)3.83362919
11Febrile seizures (HP:0002373)3.78924979
12Generalized tonic-clonic seizures (HP:0002069)3.76741287
13Mutism (HP:0002300)3.57608747
14Dialeptic seizures (HP:0011146)3.57309479
15Broad-based gait (HP:0002136)3.52705402
16Impaired vibration sensation in the lower limbs (HP:0002166)3.40513430
17Poor eye contact (HP:0000817)3.38940173
18Abnormal eating behavior (HP:0100738)3.36725456
19Dynein arm defect of respiratory motile cilia (HP:0012255)3.13624828
20Absent/shortened dynein arms (HP:0200106)3.13624828
21Cerebral inclusion bodies (HP:0100314)3.12595379
22Polyphagia (HP:0002591)3.08871565
23Depression (HP:0000716)3.07706053
24Urinary bladder sphincter dysfunction (HP:0002839)3.06677097
25Papilledema (HP:0001085)3.04090191
26Cerebral hypomyelination (HP:0006808)3.00919440
27Impaired social interactions (HP:0000735)2.98876376
28Abnormal social behavior (HP:0012433)2.98876376
29Abnormality of the lower motor neuron (HP:0002366)2.95904477
30Hyperventilation (HP:0002883)2.95590662
31Urinary urgency (HP:0000012)2.87923051
32Postural instability (HP:0002172)2.87779720
33Amblyopia (HP:0000646)2.87524158
34Action tremor (HP:0002345)2.86278741
35Neurofibrillary tangles (HP:0002185)2.79777204
36Anxiety (HP:0000739)2.78186001
37Congenital stationary night blindness (HP:0007642)2.77025455
38Delusions (HP:0000746)2.76299911
39Dysmetria (HP:0001310)2.76102578
40Dysdiadochokinesis (HP:0002075)2.75510841
41Spastic gait (HP:0002064)2.73534555
42Excessive salivation (HP:0003781)2.70601985
43Drooling (HP:0002307)2.70601985
44Truncal ataxia (HP:0002078)2.63573244
45Abnormal respiratory epithelium morphology (HP:0012253)2.62958613
46Abnormal respiratory motile cilium morphology (HP:0005938)2.62958613
47Amyotrophic lateral sclerosis (HP:0007354)2.60351570
48Progressive inability to walk (HP:0002505)2.55507343
49Megalencephaly (HP:0001355)2.54756633
50Abnormality of the labia minora (HP:0012880)2.54305308
51Torticollis (HP:0000473)2.52937148
52Epileptiform EEG discharges (HP:0011182)2.52241032
53Abnormality of midbrain morphology (HP:0002418)2.50195936
54Molar tooth sign on MRI (HP:0002419)2.50195936
55Nephronophthisis (HP:0000090)2.49915746
56Bradykinesia (HP:0002067)2.49428612
57Genetic anticipation (HP:0003743)2.48210055
58Abnormal drinking behavior (HP:0030082)2.47455739
59Polydipsia (HP:0001959)2.47455739
60Gaze-evoked nystagmus (HP:0000640)2.47218234
61Abnormal ciliary motility (HP:0012262)2.45863853
62EEG with generalized epileptiform discharges (HP:0011198)2.45311847
63Impaired smooth pursuit (HP:0007772)2.44621087
64Hemiparesis (HP:0001269)2.42866058
65Ventricular fibrillation (HP:0001663)2.42548214
66Pancreatic cysts (HP:0001737)2.41756850
67Insomnia (HP:0100785)2.39922986
68Inability to walk (HP:0002540)2.39829678
69Focal dystonia (HP:0004373)2.39761487
70Hypsarrhythmia (HP:0002521)2.36202300
71Type II lissencephaly (HP:0007260)2.34374074
72Pancreatic fibrosis (HP:0100732)2.32124320
73Stereotypic behavior (HP:0000733)2.23981650
74Hemiplegia (HP:0002301)2.23634127
75Abnormal respiratory motile cilium physiology (HP:0012261)2.22895093
76Abnormality of binocular vision (HP:0011514)2.21932173
77Diplopia (HP:0000651)2.21932173
78Fetal akinesia sequence (HP:0001989)2.17920093
79Pheochromocytoma (HP:0002666)2.16759967
80Absent speech (HP:0001344)2.16251513
81Scanning speech (HP:0002168)2.16229749
82Limb dystonia (HP:0002451)2.16021947
83Generalized myoclonic seizures (HP:0002123)2.14994607
84True hermaphroditism (HP:0010459)2.14890830
85Insidious onset (HP:0003587)2.13703717
86Termporal pattern (HP:0011008)2.13703717
87Lower limb muscle weakness (HP:0007340)2.13415919
88Abnormality of the corticospinal tract (HP:0002492)2.13164076
89Craniofacial dystonia (HP:0012179)2.13112300
90Gait imbalance (HP:0002141)2.12505440
91Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.09800833
92Status epilepticus (HP:0002133)2.07515818
93Aplasia involving bones of the extremities (HP:0009825)2.05597338
94Aplasia involving bones of the upper limbs (HP:0009823)2.05597338
95Aplasia of the phalanges of the hand (HP:0009802)2.05597338
96Abnormality of ocular smooth pursuit (HP:0000617)2.01545189
97Impaired vibratory sensation (HP:0002495)2.01158448
98CNS hypomyelination (HP:0003429)2.00970220
99Abnormality of the renal medulla (HP:0100957)2.00363778
100Pointed chin (HP:0000307)2.00353453
101Apathy (HP:0000741)2.00337069
102Clonus (HP:0002169)2.00039662
103Decreased central vision (HP:0007663)1.99469896
104Cystic liver disease (HP:0006706)1.99325616
105Sleep apnea (HP:0010535)1.97900028
106Specific learning disability (HP:0001328)1.97198485
107Acute necrotizing encephalopathy (HP:0006965)1.92106491
108Abnormal rod and cone electroretinograms (HP:0008323)1.91913085
109Intention tremor (HP:0002080)1.91775011
110Abnormality of salivation (HP:0100755)1.91194143
111Incomplete penetrance (HP:0003829)1.89935422
112Hyperthyroidism (HP:0000836)1.89435818
113Shoulder girdle muscle weakness (HP:0003547)1.88162944
114Progressive macrocephaly (HP:0004481)1.88078159
115Medial flaring of the eyebrow (HP:0010747)1.87850915
116Annular pancreas (HP:0001734)1.87620210
117Intellectual disability, profound (HP:0002187)1.87163786
118Hypoventilation (HP:0002791)1.86692295
119Inappropriate behavior (HP:0000719)1.86686324
120Chronic hepatic failure (HP:0100626)1.85874620
121Rapidly progressive (HP:0003678)1.85385712
122Spastic tetraparesis (HP:0001285)1.84465678
123Neuroendocrine neoplasm (HP:0100634)1.83553851
124Thickened helices (HP:0000391)1.83221597
125Polyuria (HP:0000103)1.82997203
126Failure to thrive in infancy (HP:0001531)1.82249228
127Poor suck (HP:0002033)1.80698110
128Attenuation of retinal blood vessels (HP:0007843)1.77741976
129Protruding tongue (HP:0010808)1.77187562
130Diminished motivation (HP:0000745)1.77182478
131Morphological abnormality of the pyramidal tract (HP:0002062)1.77117271
132Akinesia (HP:0002304)1.76712735
133Increased circulating renin level (HP:0000848)1.76109796
134Prolonged QT interval (HP:0001657)1.74847391
135Confusion (HP:0001289)1.74630652
136Bony spicule pigmentary retinopathy (HP:0007737)1.74265699
137Choreoathetosis (HP:0001266)1.74115228
138Mitochondrial inheritance (HP:0001427)1.74040363
139Decreased circulating renin level (HP:0003351)1.71491346
140Abnormal EKG (HP:0003115)1.71230565
141Abnormal mitochondria in muscle tissue (HP:0008316)1.70905020
142Retinal dysplasia (HP:0007973)1.68359471

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.49387310
2EPHA43.97676887
3NTRK33.78406304
4MARK13.70754225
5MAP3K43.26998696
6DAPK22.95402825
7MINK12.87151143
8MAP2K72.69918926
9PAK62.56911495
10FRK2.21051036
11NTRK22.14136926
12KSR22.10229363
13MAP3K122.05277032
14DAPK11.98074140
15KSR11.97429279
16PLK21.89556657
17CDK191.89238169
18NTRK11.87570014
19MAP2K41.84024145
20PNCK1.70850902
21PRKD31.69163965
22TLK11.67606515
23WNK41.64592624
24UHMK11.63026021
25ARAF1.58868696
26GRK51.58481791
27MAPK151.58049612
28CAMKK11.55937323
29CDK51.54478782
30CASK1.41393558
31LATS21.40664837
32RIPK41.36647823
33SIK21.35536220
34ADRBK21.35026715
35MAPK131.24934518
36PRKCG1.22462492
37TYRO31.22359781
38ZAK1.18048203
39CDK181.10760001
40PHKG11.10420849
41PHKG21.10420849
42STK381.09456477
43CDK151.07767231
44MAP4K21.06360517
45CDK141.03860871
46TNIK1.02805326
47MAP3K21.00572129
48INSRR0.99145875
49MAP3K130.98330810
50ALK0.97264580
51CDK11A0.95145706
52TAOK10.93851250
53CAMK10.89486092
54RAF10.89124666
55FES0.89085241
56GRK10.86736914
57PRPF4B0.85143936
58STK110.84881024
59STK390.84724863
60FGFR20.82090331
61PKN10.81619407
62CAMK2A0.81454888
63CCNB10.80204322
64PAK30.80120263
65OXSR10.79501406
66BMPR1B0.76073059
67DYRK1A0.75773016
68PTK2B0.72222476
69LMTK20.70996702
70MAPKAPK50.70423126
71STK160.69810743
72DAPK30.68493408
73FGR0.67143463
74NEK10.66437697
75SCYL20.65617224
76CSNK1G20.65558362
77BUB10.65453261
78CAMKK20.64359633
79SGK20.63818056
80SGK4940.61914858
81SGK2230.61914858
82BRSK10.61124861
83NEK60.60719735
84RET0.60285372
85BCR0.58464137
86MAPK120.58083310
87PRKCZ0.57141592
88MAP3K110.54098810
89NUAK10.53421093
90BRAF0.50797618
91LIMK10.50472411
92CAMK2B0.50417863
93TRIM280.48040351
94PDPK10.47643591
95SGK10.47453612
96PRKCA0.47439068
97CAMK2D0.46756276
98MARK20.46184332
99ROCK20.45508980
100NME10.45380118
101CSNK1G30.45337666
102MAP2K60.44501700
103PRKACA0.44213744
104PDK10.44103015
105PRKCH0.43500271
106MAP3K60.43122321
107WNK30.42981763
108PRKCI0.41508943
109CSNK1A1L0.40253076
110DYRK20.39801583
111MAPK100.39606410
112RPS6KA30.39478439
113ADRBK10.38668112
114CSNK1A10.38231345
115MAP2K10.37896768
116CSNK1D0.37076524
117BMPR20.37002483
118PLK30.36756596
119TNK20.35383858
120WNK10.35240337
121CDC42BPA0.35234880
122MAP3K10.34906284
123CAMK2G0.32871650
124FYN0.32666644
125CSNK1E0.30132010
126PRKCE0.29376154
127CAMK40.28827176
128RIPK10.28672008
129PINK10.26946538
130TESK20.25450678

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047214.11592822
2Nicotine addiction_Homo sapiens_hsa050333.87658406
3Olfactory transduction_Homo sapiens_hsa047402.81771349
4Long-term potentiation_Homo sapiens_hsa047202.73505596
5Circadian entrainment_Homo sapiens_hsa047132.71368149
6GABAergic synapse_Homo sapiens_hsa047272.70384032
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.65365682
8Glutamatergic synapse_Homo sapiens_hsa047242.56557781
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.51865418
10Amphetamine addiction_Homo sapiens_hsa050312.39923423
11Morphine addiction_Homo sapiens_hsa050322.39005419
12Salivary secretion_Homo sapiens_hsa049702.16701969
13Dopaminergic synapse_Homo sapiens_hsa047282.15420112
14Insulin secretion_Homo sapiens_hsa049112.04085560
15Collecting duct acid secretion_Homo sapiens_hsa049661.93864499
16Gastric acid secretion_Homo sapiens_hsa049711.92895553
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84586604
18Cholinergic synapse_Homo sapiens_hsa047251.80654400
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.71916045
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.69428614
21Vitamin B6 metabolism_Homo sapiens_hsa007501.67189138
22Oxytocin signaling pathway_Homo sapiens_hsa049211.66255115
23Taste transduction_Homo sapiens_hsa047421.64291227
24Renin secretion_Homo sapiens_hsa049241.58965424
25Long-term depression_Homo sapiens_hsa047301.58742187
26GnRH signaling pathway_Homo sapiens_hsa049121.52901576
27Calcium signaling pathway_Homo sapiens_hsa040201.52673035
28Gap junction_Homo sapiens_hsa045401.47242046
29Serotonergic synapse_Homo sapiens_hsa047261.45224710
30Cocaine addiction_Homo sapiens_hsa050301.36187411
31Oocyte meiosis_Homo sapiens_hsa041141.35026898
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32353398
33Axon guidance_Homo sapiens_hsa043601.27751023
34Vibrio cholerae infection_Homo sapiens_hsa051101.26625788
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.25301799
36Cardiac muscle contraction_Homo sapiens_hsa042601.21365844
37Glioma_Homo sapiens_hsa052141.19973085
38Estrogen signaling pathway_Homo sapiens_hsa049151.19706657
39Melanogenesis_Homo sapiens_hsa049161.18691017
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.13326989
41cAMP signaling pathway_Homo sapiens_hsa040241.12351109
42ErbB signaling pathway_Homo sapiens_hsa040121.10694699
43Type II diabetes mellitus_Homo sapiens_hsa049301.08566236
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.98269041
45Butanoate metabolism_Homo sapiens_hsa006500.98027648
46Phosphatidylinositol signaling system_Homo sapiens_hsa040700.95685230
47Nitrogen metabolism_Homo sapiens_hsa009100.95106571
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93951940
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91808204
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.91201315
51Dorso-ventral axis formation_Homo sapiens_hsa043200.86447748
52Regulation of autophagy_Homo sapiens_hsa041400.82225325
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81000369
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.79825690
55Alzheimers disease_Homo sapiens_hsa050100.78017132
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77606755
57Maturity onset diabetes of the young_Homo sapiens_hsa049500.77572096
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.75412924
59Linoleic acid metabolism_Homo sapiens_hsa005910.75291304
60Oxidative phosphorylation_Homo sapiens_hsa001900.75120090
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75052109
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73559163
63Phototransduction_Homo sapiens_hsa047440.69506002
64MAPK signaling pathway_Homo sapiens_hsa040100.68028405
65Prion diseases_Homo sapiens_hsa050200.67884431
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.66837126
67Alcoholism_Homo sapiens_hsa050340.66760174
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.66678742
69VEGF signaling pathway_Homo sapiens_hsa043700.64729145
70Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.64365941
71Sulfur relay system_Homo sapiens_hsa041220.63479425
72Choline metabolism in cancer_Homo sapiens_hsa052310.63134508
73Thyroid hormone synthesis_Homo sapiens_hsa049180.62595181
74Ether lipid metabolism_Homo sapiens_hsa005650.62508616
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61689952
76Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.60652658
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.58878589
78Wnt signaling pathway_Homo sapiens_hsa043100.58866962
79Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58345946
80Glucagon signaling pathway_Homo sapiens_hsa049220.58163657
81beta-Alanine metabolism_Homo sapiens_hsa004100.57669311
82Pancreatic secretion_Homo sapiens_hsa049720.57422679
83Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.55956810
84Parkinsons disease_Homo sapiens_hsa050120.55052298
85Ras signaling pathway_Homo sapiens_hsa040140.54493951
86Endocytosis_Homo sapiens_hsa041440.53973735
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53790375
88Arginine and proline metabolism_Homo sapiens_hsa003300.53388880
89Ovarian steroidogenesis_Homo sapiens_hsa049130.52520920
90ABC transporters_Homo sapiens_hsa020100.52456543
91Dilated cardiomyopathy_Homo sapiens_hsa054140.52142341
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52096932
93Type I diabetes mellitus_Homo sapiens_hsa049400.52090762
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50429087
95mTOR signaling pathway_Homo sapiens_hsa041500.50174315
96Huntingtons disease_Homo sapiens_hsa050160.50141784
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.50131491
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.48954557
99Rap1 signaling pathway_Homo sapiens_hsa040150.48204139
100Histidine metabolism_Homo sapiens_hsa003400.45918213
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44206118
102Renal cell carcinoma_Homo sapiens_hsa052110.43662102
103Mineral absorption_Homo sapiens_hsa049780.43146632
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42795460
105Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.42145850
106Colorectal cancer_Homo sapiens_hsa052100.41464549
107Insulin signaling pathway_Homo sapiens_hsa049100.41185771
108Endometrial cancer_Homo sapiens_hsa052130.41115123
109RNA polymerase_Homo sapiens_hsa030200.40253590
110Hedgehog signaling pathway_Homo sapiens_hsa043400.38437002
111Inositol phosphate metabolism_Homo sapiens_hsa005620.37174540
112Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.33130409
113Non-small cell lung cancer_Homo sapiens_hsa052230.32914010
114Folate biosynthesis_Homo sapiens_hsa007900.32422062
115Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32178915
116Tryptophan metabolism_Homo sapiens_hsa003800.30770058
117SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30549245
118Circadian rhythm_Homo sapiens_hsa047100.29320750
119Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28436547
120Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28396782
121Central carbon metabolism in cancer_Homo sapiens_hsa052300.28114564
122Bile secretion_Homo sapiens_hsa049760.26077949
123Peroxisome_Homo sapiens_hsa041460.24124209
124Tight junction_Homo sapiens_hsa045300.23575305
125Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23501542
126Purine metabolism_Homo sapiens_hsa002300.20812064
127Cyanoamino acid metabolism_Homo sapiens_hsa004600.19495928

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »