MBP

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





Description: The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called 'Golli-MBP') that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)8.03359974
2central nervous system myelination (GO:0022010)8.03359974
3synaptic vesicle docking involved in exocytosis (GO:0016081)7.85946905
4L-amino acid import (GO:0043092)5.08890550
5* ensheathment of neurons (GO:0007272)5.08365702
6* axon ensheathment (GO:0008366)5.08365702
7* myelination (GO:0042552)5.06701763
8synaptic vesicle maturation (GO:0016188)4.88358459
9neuronal action potential propagation (GO:0019227)4.75187741
10fatty acid elongation (GO:0030497)4.63296260
11locomotory exploration behavior (GO:0035641)4.59075102
12positive regulation of synapse maturation (GO:0090129)4.30066660
13glycine transport (GO:0015816)4.25632240
14cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.25609487
15regulation of short-term neuronal synaptic plasticity (GO:0048172)4.25011903
16regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.18757854
17transmission of nerve impulse (GO:0019226)4.18179918
18long-chain fatty acid biosynthetic process (GO:0042759)4.17020858
19positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.14401311
20negative regulation of neurotransmitter secretion (GO:0046929)3.98626792
21positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.97384706
22amino acid import (GO:0043090)3.95397664
23regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.93949465
24neuronal ion channel clustering (GO:0045161)3.92651248
25regulation of ARF protein signal transduction (GO:0032012)3.92405289
26regulation of synaptic vesicle exocytosis (GO:2000300)3.91251957
27negative regulation of neurotransmitter transport (GO:0051589)3.89397638
28postsynaptic membrane organization (GO:0001941)3.85358835
29adult walking behavior (GO:0007628)3.81631480
30synaptic vesicle exocytosis (GO:0016079)3.79168017
31regulation of neurotransmitter secretion (GO:0046928)3.79006632
32cerebellar Purkinje cell differentiation (GO:0021702)3.74906067
33gamma-aminobutyric acid transport (GO:0015812)3.70222668
34neuron cell-cell adhesion (GO:0007158)3.68906659
35peptidyl-tyrosine autophosphorylation (GO:0038083)3.66995260
36positive regulation of dendritic spine development (GO:0060999)3.66054228
37cell communication by electrical coupling (GO:0010644)3.59780612
38cellular sodium ion homeostasis (GO:0006883)3.59141691
39regulation of neuronal synaptic plasticity (GO:0048168)3.58517963
40dendritic spine morphogenesis (GO:0060997)3.57494639
41glutamate secretion (GO:0014047)3.55900350
42ionotropic glutamate receptor signaling pathway (GO:0035235)3.55722037
43negative regulation of dendrite morphogenesis (GO:0050774)3.54977099
44myelin maintenance (GO:0043217)3.54938890
45synaptic vesicle endocytosis (GO:0048488)3.53406540
46neurotransmitter-gated ion channel clustering (GO:0072578)3.52241178
47regulation of neurotransmitter transport (GO:0051588)3.51202563
48neuromuscular process controlling posture (GO:0050884)3.45162817
49regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.38306052
50regulation of long-term neuronal synaptic plasticity (GO:0048169)3.37867179
51regulation of synapse maturation (GO:0090128)3.37179954
52regulation of synaptic vesicle transport (GO:1902803)3.37096488
53regulation of collateral sprouting (GO:0048670)3.35768656
54presynaptic membrane organization (GO:0097090)3.35360934
55regulation of postsynaptic membrane potential (GO:0060078)3.34945206
56positive regulation of neurotransmitter secretion (GO:0001956)3.33448845
57regulation of vesicle fusion (GO:0031338)3.30402759
58vocalization behavior (GO:0071625)3.30165171
59negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.27804728
60cytoskeletal anchoring at plasma membrane (GO:0007016)3.25006839
61regulation of dendritic spine development (GO:0060998)3.24993116
62oligodendrocyte differentiation (GO:0048709)3.23280907
63positive regulation of neurotransmitter transport (GO:0051590)3.23239724
64neurotransmitter secretion (GO:0007269)3.23229903
65response to methylmercury (GO:0051597)3.23124646
66negative regulation of protein localization to cell surface (GO:2000009)3.22085947
67myelination in peripheral nervous system (GO:0022011)3.21534051
68peripheral nervous system axon ensheathment (GO:0032292)3.21534051
69neuron-neuron synaptic transmission (GO:0007270)3.17701477
70membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.16498585
71synaptic transmission, glutamatergic (GO:0035249)3.15686535
72regulation of synaptic transmission (GO:0050804)3.15457336
73exploration behavior (GO:0035640)3.14494581
74establishment of mitochondrion localization (GO:0051654)3.14219978
75cerebellar granule cell differentiation (GO:0021707)3.13808301
76presynaptic membrane assembly (GO:0097105)3.13518434
77proline transport (GO:0015824)3.12642105
78negative regulation of inclusion body assembly (GO:0090084)3.11716384
79positive regulation of Rap GTPase activity (GO:0032854)3.11273739
80cellular potassium ion homeostasis (GO:0030007)3.09256417
81glycerophospholipid catabolic process (GO:0046475)3.09046198
82neuromuscular process controlling balance (GO:0050885)3.05860854
83glutamate receptor signaling pathway (GO:0007215)3.05439884
84positive regulation of membrane potential (GO:0045838)3.05007689
85regulation of synapse structural plasticity (GO:0051823)3.04566422
86potassium ion import (GO:0010107)3.03448877
87protein localization to synapse (GO:0035418)3.03184755
88membrane depolarization during action potential (GO:0086010)3.02718851
89vesicle docking involved in exocytosis (GO:0006904)3.01534406
90membrane depolarization (GO:0051899)3.01338606
91positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.01130512
92regulation of voltage-gated calcium channel activity (GO:1901385)2.99986981
93long-term memory (GO:0007616)2.98363909
94cell differentiation in hindbrain (GO:0021533)2.98203427
95regulation of glutamate receptor signaling pathway (GO:1900449)2.96757725
96activation of protein kinase A activity (GO:0034199)2.96711948
97mating behavior (GO:0007617)2.96550074
98neurotransmitter transport (GO:0006836)2.94797239
99astrocyte development (GO:0014002)2.94793840
100dendrite morphogenesis (GO:0048813)2.93259627
101nerve growth factor signaling pathway (GO:0038180)2.93174392
102membrane hyperpolarization (GO:0060081)2.92935164
103regulation of synaptic transmission, glutamatergic (GO:0051966)2.92676688
104negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91639096
105layer formation in cerebral cortex (GO:0021819)2.88020598
106import into cell (GO:0098657)2.87930673
107neuron recognition (GO:0008038)2.87705121
108regulation of dendritic spine morphogenesis (GO:0061001)2.86046435
109* substantia nigra development (GO:0021762)2.84040047
110neurotransmitter uptake (GO:0001504)2.83479485
111acidic amino acid transport (GO:0015800)2.81428201
112sodium ion export (GO:0071436)2.81056366
113regulation of excitatory postsynaptic membrane potential (GO:0060079)2.81017969
114cholesterol biosynthetic process (GO:0006695)2.80944276
115long-term synaptic potentiation (GO:0060291)2.80607771
116membrane tubulation (GO:0097320)2.80590489
117L-glutamate transport (GO:0015813)2.80448173
118gamma-aminobutyric acid signaling pathway (GO:0007214)2.80233339
119creatine metabolic process (GO:0006600)2.77271740
120potassium ion homeostasis (GO:0055075)2.77162566
121positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.76785121
122* negative regulation of axonogenesis (GO:0050771)2.75494539
123regulation of synaptic plasticity (GO:0048167)2.75459419
124apical protein localization (GO:0045176)2.74992778
125negative regulation of axon extension (GO:0030517)2.72334776
126regulation of neurotransmitter levels (GO:0001505)2.71158181
127auditory behavior (GO:0031223)2.70326402
128prepulse inhibition (GO:0060134)2.69664953
129adult locomotory behavior (GO:0008344)2.68203913
130positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.66937770
131photoreceptor cell differentiation (GO:0046530)2.66150871
132eye photoreceptor cell differentiation (GO:0001754)2.66150871
133negative regulation of synaptic transmission, GABAergic (GO:0032229)2.65064703
134neurotransmitter catabolic process (GO:0042135)2.63632159

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.15999022
2GBX2_23144817_ChIP-Seq_PC3_Human3.06794965
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.92783282
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92407237
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.81169770
6THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.65396883
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62385500
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62385500
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.58410419
10* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55758233
11* DROSHA_22980978_ChIP-Seq_HELA_Human2.55102439
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49881801
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.39079118
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36490133
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.32808511
16* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.31449886
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.30793765
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28213857
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27568007
20REST_21632747_ChIP-Seq_MESCs_Mouse2.27227493
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.09476832
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.07950534
23AR_21572438_ChIP-Seq_LNCaP_Human2.02620258
24* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.95474453
25* REST_18959480_ChIP-ChIP_MESCs_Mouse1.89734051
26RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.81134447
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.80971326
28VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.67546181
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65692471
30ZFP281_18757296_ChIP-ChIP_E14_Mouse1.64205086
31TAF15_26573619_Chip-Seq_HEK293_Human1.60687967
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.60234555
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.57539629
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.54823347
35* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52488298
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.39775284
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.39650099
38ZFP281_27345836_Chip-Seq_ESCs_Mouse1.38016293
39WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31024799
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.29879025
41SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.29869174
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29660551
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.29344698
44* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.28903048
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27642841
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.27509839
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26983515
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26671971
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23551365
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.21283433
51SMAD4_21799915_ChIP-Seq_A2780_Human1.20567403
52* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.18439621
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18143693
54P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17927731
55LXR_22292898_ChIP-Seq_THP-1_Human1.16412949
56* STAT3_23295773_ChIP-Seq_U87_Human1.16285969
57ER_23166858_ChIP-Seq_MCF-7_Human1.14599208
58ZFP57_27257070_Chip-Seq_ESCs_Mouse1.14276532
59ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12199386
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.11583437
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.09522329
62* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08747577
63* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08676524
64* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08430555
65SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07495434
66RING1B_27294783_Chip-Seq_NPCs_Mouse1.07423495
67* SOX2_21211035_ChIP-Seq_LN229_Gbm1.07115038
68WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.06469710
69MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04837574
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04798411
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.03325880
72* OCT4_19829295_ChIP-Seq_ESCs_Human1.02514667
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01449775
74KDM2B_26808549_Chip-Seq_K562_Human1.00854973
75TCF4_23295773_ChIP-Seq_U87_Human1.00084948
76* P300_19829295_ChIP-Seq_ESCs_Human0.99916445
77CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99915305
78* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98879102
79PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.98596724
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.98245988
81STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.97541199
82TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95906529
83* AR_19668381_ChIP-Seq_PC3_Human0.95454928
84TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94058319
85DPY_21335234_ChIP-Seq_ESCs_Mouse0.93863073
86* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.92797261
87EP300_21415370_ChIP-Seq_HL-1_Mouse0.92462463
88SMC4_20622854_ChIP-Seq_HELA_Human0.91056485
89CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90809600
90GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90705641
91SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89905554
92DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89599823
93* KDM2B_26808549_Chip-Seq_DND41_Human0.89463708
94SMAD4_21741376_ChIP-Seq_EPCs_Human0.89421631
95OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89090791
96EGR1_19032775_ChIP-ChIP_M12_Human0.89065182
97* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88541489
98GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.88498807
99PRDM14_20953172_ChIP-Seq_ESCs_Human0.88434758
100ESR2_21235772_ChIP-Seq_MCF-7_Human0.88034933
101ESR1_20079471_ChIP-ChIP_T-47D_Human0.87427006
102GATA1_26923725_Chip-Seq_HPCs_Mouse0.86183973
103BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85952717
104LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85902286
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85554136
106AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85088377
107* SMAD4_21741376_ChIP-Seq_HESCs_Human0.84763472
108LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.84430482
109* TET1_21490601_ChIP-Seq_MESCs_Mouse0.84179744
110NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83904555
111NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83904555
112SMAD3_21741376_ChIP-Seq_ESCs_Human0.83795095
113* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.83538907
114TP53_16413492_ChIP-PET_HCT116_Human0.83488518
115CTCF_27219007_Chip-Seq_Bcells_Human0.83023180
116* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82676701
117SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.82321153
118SMAD_19615063_ChIP-ChIP_OVARY_Human0.81938546
119EOMES_21245162_ChIP-Seq_HESCs_Human0.81893849
120SMAD4_21741376_ChIP-Seq_ESCs_Human0.81317455
121KLF4_19829295_ChIP-Seq_ESCs_Human0.80982575
122EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.80399130
123SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.80283981
124* MYC_19915707_ChIP-ChIP_AK7_Human0.79824188
125KDM2B_26808549_Chip-Seq_JURKAT_Human0.79773949
126* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.79033601
127PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.78448115
128RNF2_27304074_Chip-Seq_NSC_Mouse0.76893159
129RUNX1_26923725_Chip-Seq_HPCs_Mouse0.76640842
130* MITF_21258399_ChIP-Seq_MELANOMA_Human0.74432301
131* TP53_23651856_ChIP-Seq_MEFs_Mouse0.73383346

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.19493897
2MP0003880_abnormal_central_pattern4.89390788
3* MP0000920_abnormal_myelination3.89315644
4MP0004270_analgesia3.74404317
5* MP0003635_abnormal_synaptic_transmissio3.42375129
6* MP0002064_seizures3.15218763
7MP0002272_abnormal_nervous_system3.13382157
8MP0009046_muscle_twitch3.04183591
9MP0001486_abnormal_startle_reflex2.99647089
10* MP0009745_abnormal_behavioral_response2.95332591
11MP0003690_abnormal_glial_cell2.94228735
12MP0002822_catalepsy2.86863764
13MP0005423_abnormal_somatic_nervous2.74412699
14MP0003329_amyloid_beta_deposits2.67029439
15MP0004885_abnormal_endolymph2.63225018
16* MP0002063_abnormal_learning/memory/cond2.54610461
17MP0002734_abnormal_mechanical_nocicepti2.38864645
18MP0002572_abnormal_emotion/affect_behav2.29606183
19MP0008569_lethality_at_weaning2.24068959
20MP0001529_abnormal_vocalization2.21908065
21MP0004142_abnormal_muscle_tone2.16729481
22MP0001968_abnormal_touch/_nociception2.11765579
23MP0003634_abnormal_glial_cell2.01583297
24MP0001905_abnormal_dopamine_level2.00720841
25MP0000778_abnormal_nervous_system1.96006208
26MP0001440_abnormal_grooming_behavior1.93430382
27MP0002067_abnormal_sensory_capabilities1.82529560
28MP0001970_abnormal_pain_threshold1.81148159
29MP0001501_abnormal_sleep_pattern1.76943108
30MP0000955_abnormal_spinal_cord1.75353828
31MP0001485_abnormal_pinna_reflex1.73864578
32MP0002733_abnormal_thermal_nociception1.73641857
33MP0003632_abnormal_nervous_system1.68065265
34MP0003633_abnormal_nervous_system1.67106906
35MP0002229_neurodegeneration1.64029211
36MP0004924_abnormal_behavior1.62465671
37MP0005386_behavior/neurological_phenoty1.62465671
38MP0003631_nervous_system_phenotype1.60887463
39* MP0002066_abnormal_motor_capabilities/c1.55498764
40MP0005171_absent_coat_pigmentation1.54548763
41MP0005409_darkened_coat_color1.53276622
42* MP0002882_abnormal_neuron_morphology1.52366394
43MP0002736_abnormal_nociception_after1.48081744
44* MP0004742_abnormal_vestibular_system1.38427272
45MP0000604_amyloidosis1.36389942
46* MP0004811_abnormal_neuron_physiology1.33230756
47MP0002557_abnormal_social/conspecific_i1.31194567
48MP0002735_abnormal_chemical_nociception1.28831382
49MP0002184_abnormal_innervation1.25270060
50MP0005623_abnormal_meninges_morphology1.22988141
51MP0001177_atelectasis1.18629970
52MP0005646_abnormal_pituitary_gland1.18157336
53MP0003123_paternal_imprinting1.17931131
54MP0003950_abnormal_plasma_membrane1.12454481
55MP0004145_abnormal_muscle_electrophysio1.11226017
56MP0004043_abnormal_pH_regulation1.11073020
57MP0005551_abnormal_eye_electrophysiolog1.10138333
58MP0005410_abnormal_fertilization1.09153952
59MP0009780_abnormal_chondrocyte_physiolo1.06589083
60MP0000747_muscle_weakness1.05089549
61MP0002152_abnormal_brain_morphology1.04438999
62MP0001299_abnormal_eye_distance/1.03063794
63MP0003136_yellow_coat_color0.96880107
64MP0002752_abnormal_somatic_nervous0.96089436
65MP0003075_altered_response_to0.95011939
66MP0004858_abnormal_nervous_system0.94428509
67MP0002909_abnormal_adrenal_gland0.93791933
68MP0001502_abnormal_circadian_rhythm0.93726206
69MP0001984_abnormal_olfaction0.93173784
70* MP0001963_abnormal_hearing_physiology0.91558570
71MP0003122_maternal_imprinting0.89930304
72MP0008874_decreased_physiological_sensi0.85231492
73MP0000462_abnormal_digestive_system0.84747493
74MP0002090_abnormal_vision0.84746622
75MP0010678_abnormal_skin_adnexa0.82620422
76MP0001986_abnormal_taste_sensitivity0.81180905
77MP0005645_abnormal_hypothalamus_physiol0.77683742
78MP0005167_abnormal_blood-brain_barrier0.75647518
79MP0000013_abnormal_adipose_tissue0.75622740
80MP0004147_increased_porphyrin_level0.75062676
81MP0001348_abnormal_lacrimal_gland0.74195204
82MP0004134_abnormal_chest_morphology0.73383187
83MP0006276_abnormal_autonomic_nervous0.73092677
84MP0002069_abnormal_eating/drinking_beha0.72394245
85MP0000751_myopathy0.70606871
86MP0003137_abnormal_impulse_conducting0.69566980
87MP0005058_abnormal_lysosome_morphology0.69322415
88MP0003172_abnormal_lysosome_physiology0.68495934
89MP0004130_abnormal_muscle_cell0.67561918
90MP0003045_fibrosis0.66263133
91MP0002638_abnormal_pupillary_reflex0.65765253
92MP0003879_abnormal_hair_cell0.65251607
93MP0008872_abnormal_physiological_respon0.64849778
94MP0005166_decreased_susceptibility_to0.64280950
95MP0000579_abnormal_nail_morphology0.63377955
96MP0000569_abnormal_digit_pigmentation0.61471525
97MP0004085_abnormal_heartbeat0.59654712
98MP0001943_abnormal_respiration0.57089486
99MP0000003_abnormal_adipose_tissue0.56232965
100MP0003787_abnormal_imprinting0.54590827
101MP0005535_abnormal_body_temperature0.54371644
102MP0001346_abnormal_lacrimal_gland0.51918918
103MP0008260_abnormal_autophagy0.50706610
104MP0005253_abnormal_eye_physiology0.50319340
105MP0010769_abnormal_survival0.50211587
106MP0003183_abnormal_peptide_metabolism0.50036487
107MP0000383_abnormal_hair_follicle0.49950738
108MP0005388_respiratory_system_phenotype0.49898838
109MP0002133_abnormal_respiratory_system0.49898838
110MP0000631_abnormal_neuroendocrine_gland0.49056703
111MP0010768_mortality/aging0.49017222
112MP0003283_abnormal_digestive_organ0.48676261
113MP0005195_abnormal_posterior_eye0.48673330
114MP0010770_preweaning_lethality0.47511683
115MP0002082_postnatal_lethality0.47511683
116MP0004510_myositis0.47492838
117MP0003956_abnormal_body_size0.47248108
118MP0000026_abnormal_inner_ear0.47064636
119MP0000566_synostosis0.45299608
120MP0010386_abnormal_urinary_bladder0.43941565
121MP0000639_abnormal_adrenal_gland0.41705723
122MP0008877_abnormal_DNA_methylation0.41265723

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.00552741
2Neurofibrillary tangles (HP:0002185)5.20507358
3Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.04754198
4Degeneration of the lateral corticospinal tracts (HP:0002314)5.04754198
5Peripheral hypomyelination (HP:0007182)4.85645688
6Focal motor seizures (HP:0011153)4.85615909
7Supranuclear gaze palsy (HP:0000605)4.78866846
8Action tremor (HP:0002345)4.56348192
9Abnormality of the corticospinal tract (HP:0002492)4.30534621
10Intention tremor (HP:0002080)4.15576574
11Ankle clonus (HP:0011448)4.06209613
12Dysmetria (HP:0001310)4.03217186
13Termporal pattern (HP:0011008)4.00661406
14Insidious onset (HP:0003587)4.00661406
15Spastic gait (HP:0002064)3.99210059
16Onion bulb formation (HP:0003383)3.89863975
17Cerebral inclusion bodies (HP:0100314)3.89723657
18Focal seizures (HP:0007359)3.80907740
19Scanning speech (HP:0002168)3.68812270
20Sensory axonal neuropathy (HP:0003390)3.68396208
21Atonic seizures (HP:0010819)3.60089494
22Cerebral hypomyelination (HP:0006808)3.52354136
23Papilledema (HP:0001085)3.48568238
24Obstructive sleep apnea (HP:0002870)3.44711201
25Hemiplegia (HP:0002301)3.23773741
26Tetraplegia (HP:0002445)3.23305111
27Annular pancreas (HP:0001734)3.12522875
28Progressive cerebellar ataxia (HP:0002073)3.06362569
29Visual hallucinations (HP:0002367)3.04495423
30Slow saccadic eye movements (HP:0000514)2.96337061
31Dysdiadochokinesis (HP:0002075)2.94374043
32Epileptic encephalopathy (HP:0200134)2.88153060
33Urinary urgency (HP:0000012)2.87501114
34Abnormal auditory evoked potentials (HP:0006958)2.87418522
35Delusions (HP:0000746)2.81215696
36Increased circulating renin level (HP:0000848)2.73920227
37Megalencephaly (HP:0001355)2.73648117
38Bradykinesia (HP:0002067)2.70511869
39Postural instability (HP:0002172)2.68840744
40Urinary bladder sphincter dysfunction (HP:0002839)2.67770665
41Akinesia (HP:0002304)2.65614035
42Lower limb muscle weakness (HP:0007340)2.64345995
43Pheochromocytoma (HP:0002666)2.64221713
44Parakeratosis (HP:0001036)2.63468486
45Gaze-evoked nystagmus (HP:0000640)2.62010765
46Apathy (HP:0000741)2.61691605
47Status epilepticus (HP:0002133)2.60931937
48Clonus (HP:0002169)2.60731532
49Anxiety (HP:0000739)2.55654785
50Insomnia (HP:0100785)2.54895827
51Alacrima (HP:0000522)2.52990083
52Dialeptic seizures (HP:0011146)2.52972654
53Segmental peripheral demyelination/remyelination (HP:0003481)2.51624196
54Impaired vibration sensation in the lower limbs (HP:0002166)2.47240407
55Rapidly progressive (HP:0003678)2.46869298
56Sleep apnea (HP:0010535)2.45622844
57Generalized tonic-clonic seizures (HP:0002069)2.45581774
58Absence seizures (HP:0002121)2.44768926
59Depression (HP:0000716)2.44166095
60Torticollis (HP:0000473)2.42230286
61Broad-based gait (HP:0002136)2.42130666
62Abnormal eating behavior (HP:0100738)2.40839176
63Diminished motivation (HP:0000745)2.34870451
64Hammertoe (HP:0001765)2.34646319
65Retinal dysplasia (HP:0007973)2.34522048
66Abnormality of saccadic eye movements (HP:0000570)2.33543088
67Epileptiform EEG discharges (HP:0011182)2.31892554
68Abnormality of the periventricular white matter (HP:0002518)2.31690118
69Bundle branch block (HP:0011710)2.28446606
70Aplasia involving bones of the upper limbs (HP:0009823)2.27305786
71Aplasia of the phalanges of the hand (HP:0009802)2.27305786
72Aplasia involving bones of the extremities (HP:0009825)2.27305786
73Truncal ataxia (HP:0002078)2.25841242
74Impaired smooth pursuit (HP:0007772)2.25840942
75CNS hypomyelination (HP:0003429)2.25150886
76Neuroendocrine neoplasm (HP:0100634)2.23169534
77Spastic tetraparesis (HP:0001285)2.19857824
78Mutism (HP:0002300)2.16553487
79Leukodystrophy (HP:0002415)2.16007175
80Febrile seizures (HP:0002373)2.13535388
81Morphological abnormality of the inner ear (HP:0011390)2.13254301
82Abnormality of the lower motor neuron (HP:0002366)2.12987933
83Focal dystonia (HP:0004373)2.12425182
84Postural tremor (HP:0002174)2.11281141
85Poor eye contact (HP:0000817)2.10452501
86Memory impairment (HP:0002354)2.10368901
87Decreased motor nerve conduction velocity (HP:0003431)2.09121002
88Neuronal loss in central nervous system (HP:0002529)2.08072568
89Cerebral hemorrhage (HP:0001342)2.07613511
90Impaired vibratory sensation (HP:0002495)2.07589093
91Abnormality of ocular smooth pursuit (HP:0000617)2.07578029
92Foot dorsiflexor weakness (HP:0009027)2.07228875
93Generalized myoclonic seizures (HP:0002123)2.07065814
94Clumsiness (HP:0002312)2.06492028
95Distal sensory impairment (HP:0002936)2.06260408
96Limb dystonia (HP:0002451)2.06050028
97Stridor (HP:0010307)2.05279902
98Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.04158355
99Craniofacial dystonia (HP:0012179)2.03858072
100Progressive inability to walk (HP:0002505)2.03322422
101Metabolic alkalosis (HP:0200114)2.03051241
102Stereotypic behavior (HP:0000733)2.01039753
103Thickened helices (HP:0000391)2.00421771
104Ulnar claw (HP:0001178)1.99917204
105Abnormal social behavior (HP:0012433)1.98709917
106Impaired social interactions (HP:0000735)1.98709917
107EEG with generalized epileptiform discharges (HP:0011198)1.98669605
108Hemiparesis (HP:0001269)1.98515441
109Choreoathetosis (HP:0001266)1.98247547
110Morphological abnormality of the pyramidal tract (HP:0002062)1.97862800
111Bowel incontinence (HP:0002607)1.97102534
112Lower limb amyotrophy (HP:0007210)1.94902793
113Decreased lacrimation (HP:0000633)1.93586853
114Spastic paraparesis (HP:0002313)1.93564834
115Amblyopia (HP:0000646)1.93193658
116Ventricular fibrillation (HP:0001663)1.92318536
117Steppage gait (HP:0003376)1.92232470
118Ocular albinism (HP:0001107)1.91922552
119Rigidity (HP:0002063)1.91675422
120Spastic paraplegia (HP:0001258)1.90985428
121Hypomagnesemia (HP:0002917)1.90361292
122Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.90200280
123Abnormality of binocular vision (HP:0011514)1.88750036
124Diplopia (HP:0000651)1.88750036
125Slow progression (HP:0003677)1.88662284
126Abnormality of the foot musculature (HP:0001436)1.88017797
127Paraplegia (HP:0010550)1.85981067
128Split foot (HP:0001839)1.84057256
129Hypsarrhythmia (HP:0002521)1.83019155
130Fetal akinesia sequence (HP:0001989)1.81921707
131Iris hypopigmentation (HP:0007730)1.81673439
132Abnormal large intestine physiology (HP:0012700)1.80767078

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.41725679
2EPHA43.39496664
3OXSR13.37858394
4TNIK2.77123789
5CDK192.43545378
6NTRK32.40240198
7EPHB12.40117667
8WNK12.30707648
9MAP3K92.28532328
10PAK62.25985120
11NTRK12.14608806
12PRPF4B1.99350818
13TYRO31.96332810
14* UHMK11.84234138
15PKN11.83643460
16WNK41.81497083
17KSR21.80903933
18PRKD31.78744973
19MAPKAPK51.78523707
20MINK11.76964541
21BCR1.74448240
22MARK11.69559578
23NEK61.65929359
24RIPK11.63855879
25MAP3K41.53437463
26FGFR21.52247614
27LIMK11.46416656
28SGK4941.44694867
29SGK2231.44694867
30NTRK21.43969217
31CDK51.41419164
32FES1.37275180
33LATS21.36006890
34PINK11.34826807
35CAMK2B1.34191296
36ICK1.32099988
37ROCK21.31618781
38PNCK1.25589407
39ARAF1.25536774
40CAMKK11.23497876
41DAPK11.23314583
42DAPK21.15039710
43MAP3K21.14301805
44SIK21.11867755
45CSNK1G21.08973588
46CAMK2D1.08503014
47SGK21.07777220
48MAP3K131.07674783
49CSNK1G31.07437828
50MAPK131.05355114
51CDK141.05348634
52MAP2K71.04475380
53CSNK1A1L1.02419894
54MET1.01972823
55CDK151.01037689
56MAPK121.00143931
57SGK31.00017380
58PRKCH0.98143844
59CDK180.96267594
60CAMK2G0.95583993
61MARK20.92053661
62FGR0.91154659
63CDK11A0.89921108
64CAMK2A0.89555228
65PDPK10.88535359
66PAK30.85873330
67PHKG20.85788781
68PHKG10.85788781
69STK110.85167632
70IRAK20.84396611
71GRK50.78521976
72MAP2K40.77859170
73PBK0.77664798
74MAP3K110.77268989
75CAMKK20.76312456
76RIPK40.76210605
77CLK10.73962505
78BRSK10.71073582
79PRKCG0.70745887
80CSNK1G10.70278766
81FYN0.70016471
82DAPK30.68304397
83PDK10.67838442
84ALK0.67568224
85PRKCQ0.67298140
86CAMK40.64339654
87STK380.62852667
88RET0.62746263
89PLK20.61255368
90CASK0.60514294
91TESK20.58750387
92MUSK0.57699003
93LMTK20.55997462
94PRKCE0.55459667
95CAMK10.53479118
96TNK20.52509587
97RAF10.52148097
98BRAF0.51418860
99MAPK100.50142087
100KSR10.50086795
101MAP3K10.49977080
102PRKCZ0.49856758
103SGK10.49193069
104ROCK10.48010893
105BMX0.45692100
106JAK20.45386354
107JAK10.42522815
108DMPK0.42108430
109RPS6KA30.41301855
110CSNK1A10.40572605
111PTK2B0.38712165
112BMPR20.38497068
113DYRK1A0.36465062
114PRKG10.35479822
115PDGFRB0.34994985
116CAMK1G0.34383855
117PRKACB0.33604728
118ERBB20.33299452
119PRKG20.31934795
120SRC0.31190519
121* PRKCA0.30596634
122PRKCB0.28832465
123CSNK1D0.23928430
124MAPK80.23640437
125MAPK40.23427165

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.26514339
2Synaptic vesicle cycle_Homo sapiens_hsa047212.61501396
3GABAergic synapse_Homo sapiens_hsa047272.57095690
4Glutamatergic synapse_Homo sapiens_hsa047242.48686558
5Nicotine addiction_Homo sapiens_hsa050332.46556318
6Steroid biosynthesis_Homo sapiens_hsa001002.38895535
7Nitrogen metabolism_Homo sapiens_hsa009102.22553585
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.18448602
9Morphine addiction_Homo sapiens_hsa050322.17972428
10Circadian entrainment_Homo sapiens_hsa047132.13069994
11Olfactory transduction_Homo sapiens_hsa047402.02456554
12Fatty acid elongation_Homo sapiens_hsa000622.00338019
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.92688720
14Long-term potentiation_Homo sapiens_hsa047201.86269711
15Salivary secretion_Homo sapiens_hsa049701.79608561
16Ether lipid metabolism_Homo sapiens_hsa005651.79404693
17Dopaminergic synapse_Homo sapiens_hsa047281.76799003
18Long-term depression_Homo sapiens_hsa047301.71900359
19Amphetamine addiction_Homo sapiens_hsa050311.70276602
20Cholinergic synapse_Homo sapiens_hsa047251.69829492
21Gastric acid secretion_Homo sapiens_hsa049711.68769961
22Axon guidance_Homo sapiens_hsa043601.64208256
23Serotonergic synapse_Homo sapiens_hsa047261.62456249
24Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.59445012
25Cocaine addiction_Homo sapiens_hsa050301.52388757
26Histidine metabolism_Homo sapiens_hsa003401.50373952
27Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.47923396
28Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.46542559
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43330386
30Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.31546162
31Insulin secretion_Homo sapiens_hsa049111.30554218
32Collecting duct acid secretion_Homo sapiens_hsa049661.27874222
33Renin secretion_Homo sapiens_hsa049241.23179235
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.21307363
35Gap junction_Homo sapiens_hsa045401.18535983
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.18457974
37Oxytocin signaling pathway_Homo sapiens_hsa049211.17169373
38Taste transduction_Homo sapiens_hsa047421.16714530
39Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.16235074
40Phospholipase D signaling pathway_Homo sapiens_hsa040721.15689832
41Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.08231630
42GnRH signaling pathway_Homo sapiens_hsa049121.07169496
43Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.06341527
44cAMP signaling pathway_Homo sapiens_hsa040241.05796499
45Calcium signaling pathway_Homo sapiens_hsa040201.05570874
46Butanoate metabolism_Homo sapiens_hsa006501.02806552
47Vitamin B6 metabolism_Homo sapiens_hsa007501.02049198
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.99240889
49Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.98186108
50Vibrio cholerae infection_Homo sapiens_hsa051100.96578646
51ErbB signaling pathway_Homo sapiens_hsa040120.94923526
52Renal cell carcinoma_Homo sapiens_hsa052110.94694187
53Dorso-ventral axis formation_Homo sapiens_hsa043200.93780604
54Endocytosis_Homo sapiens_hsa041440.93654082
55Sphingolipid signaling pathway_Homo sapiens_hsa040710.92911651
56Cardiac muscle contraction_Homo sapiens_hsa042600.92564919
57Pancreatic secretion_Homo sapiens_hsa049720.92477533
58Vascular smooth muscle contraction_Homo sapiens_hsa042700.91575576
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.91233409
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89184579
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89161403
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.86550064
63beta-Alanine metabolism_Homo sapiens_hsa004100.86016785
64Arginine and proline metabolism_Homo sapiens_hsa003300.86013048
65Sphingolipid metabolism_Homo sapiens_hsa006000.81180859
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.80667163
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.79025655
68Choline metabolism in cancer_Homo sapiens_hsa052310.75381575
69Ras signaling pathway_Homo sapiens_hsa040140.73713026
70Type II diabetes mellitus_Homo sapiens_hsa049300.73338966
71Estrogen signaling pathway_Homo sapiens_hsa049150.72369296
72Tight junction_Homo sapiens_hsa045300.69552101
73Alzheimers disease_Homo sapiens_hsa050100.67084114
74Oxidative phosphorylation_Homo sapiens_hsa001900.65684968
75Melanogenesis_Homo sapiens_hsa049160.64676535
76Glycerophospholipid metabolism_Homo sapiens_hsa005640.63181057
77Glioma_Homo sapiens_hsa052140.63126218
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62928236
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62499146
80cGMP-PKG signaling pathway_Homo sapiens_hsa040220.61374961
81Fatty acid biosynthesis_Homo sapiens_hsa000610.60911937
82Ovarian steroidogenesis_Homo sapiens_hsa049130.60127241
83Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.59901521
84Thyroid hormone synthesis_Homo sapiens_hsa049180.59494545
85MAPK signaling pathway_Homo sapiens_hsa040100.58438425
86Sulfur metabolism_Homo sapiens_hsa009200.56167418
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55602092
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.54990144
89Glucagon signaling pathway_Homo sapiens_hsa049220.51518950
90Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50956976
91Prion diseases_Homo sapiens_hsa050200.50361845
92Phototransduction_Homo sapiens_hsa047440.50215398
93Parkinsons disease_Homo sapiens_hsa050120.50142014
94Bile secretion_Homo sapiens_hsa049760.49899969
95Alcoholism_Homo sapiens_hsa050340.48443957
96Circadian rhythm_Homo sapiens_hsa047100.46392771
97Inositol phosphate metabolism_Homo sapiens_hsa005620.45921391
98Dilated cardiomyopathy_Homo sapiens_hsa054140.45560814
99Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.44480726
100Rap1 signaling pathway_Homo sapiens_hsa040150.44424267
101Chemokine signaling pathway_Homo sapiens_hsa040620.43430317
102Mineral absorption_Homo sapiens_hsa049780.42443821
103Arginine biosynthesis_Homo sapiens_hsa002200.41506520
104Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.39979904
105Oocyte meiosis_Homo sapiens_hsa041140.38816256
106mTOR signaling pathway_Homo sapiens_hsa041500.38409286
107Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38252962
108Rheumatoid arthritis_Homo sapiens_hsa053230.38207726
109VEGF signaling pathway_Homo sapiens_hsa043700.37887064
110Lysosome_Homo sapiens_hsa041420.37547219
111Regulation of actin cytoskeleton_Homo sapiens_hsa048100.36590945
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32955860
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32684242
114Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.30235792
115Linoleic acid metabolism_Homo sapiens_hsa005910.29373317
116Insulin signaling pathway_Homo sapiens_hsa049100.28414992
117Endometrial cancer_Homo sapiens_hsa052130.28343695
118ABC transporters_Homo sapiens_hsa020100.28270480
119Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.28098873
120HIF-1 signaling pathway_Homo sapiens_hsa040660.27359859
121Non-small cell lung cancer_Homo sapiens_hsa052230.25590381
122Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25305005
123AMPK signaling pathway_Homo sapiens_hsa041520.24242556

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