KCND3

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: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.83798762
2vocalization behavior (GO:0071625)5.49393212
3locomotory exploration behavior (GO:0035641)5.44242458
4neuron cell-cell adhesion (GO:0007158)5.37236668
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.37195371
6synaptic vesicle exocytosis (GO:0016079)5.36230000
7synaptic vesicle maturation (GO:0016188)5.34165106
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.18070838
9glutamate secretion (GO:0014047)5.16621407
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.97914543
11regulation of synaptic vesicle exocytosis (GO:2000300)4.80682186
12protein localization to synapse (GO:0035418)4.68503051
13central nervous system myelination (GO:0022010)4.62394691
14axon ensheathment in central nervous system (GO:0032291)4.62394691
15regulation of glutamate receptor signaling pathway (GO:1900449)4.60252592
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.52209604
17layer formation in cerebral cortex (GO:0021819)4.49136990
18exploration behavior (GO:0035640)4.37108590
19neuronal action potential propagation (GO:0019227)4.35487428
20neurotransmitter secretion (GO:0007269)4.33980011
21regulation of synaptic vesicle transport (GO:1902803)4.25828274
22synaptic vesicle docking involved in exocytosis (GO:0016081)4.20488401
23cellular potassium ion homeostasis (GO:0030007)4.16392064
24gamma-aminobutyric acid transport (GO:0015812)4.16276719
25glutamate receptor signaling pathway (GO:0007215)4.16217081
26regulation of synapse structural plasticity (GO:0051823)4.14567676
27synaptic transmission, glutamatergic (GO:0035249)4.14161626
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.05698357
29regulation of long-term neuronal synaptic plasticity (GO:0048169)4.00236693
30neuron-neuron synaptic transmission (GO:0007270)3.98693317
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.96853961
32positive regulation of synapse maturation (GO:0090129)3.93657348
33regulation of neuronal synaptic plasticity (GO:0048168)3.93136367
34synaptic vesicle endocytosis (GO:0048488)3.92363004
35proline transport (GO:0015824)3.91514804
36neurotransmitter-gated ion channel clustering (GO:0072578)3.72901402
37sodium ion export (GO:0071436)3.70725924
38neurotransmitter transport (GO:0006836)3.66664314
39long-term memory (GO:0007616)3.64756472
40neuron recognition (GO:0008038)3.64748948
41positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.63600886
42cerebellar Purkinje cell differentiation (GO:0021702)3.60356698
43dendritic spine morphogenesis (GO:0060997)3.60350659
44innervation (GO:0060384)3.56700502
45regulation of excitatory postsynaptic membrane potential (GO:0060079)3.54685846
46cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.51756128
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.48171059
48mating behavior (GO:0007617)3.48058326
49regulation of postsynaptic membrane potential (GO:0060078)3.47122019
50positive regulation of membrane potential (GO:0045838)3.46656695
51G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.46317122
52cell communication by electrical coupling (GO:0010644)3.41919970
53postsynaptic membrane organization (GO:0001941)3.41239539
54regulation of neurotransmitter levels (GO:0001505)3.40973121
55regulation of synaptic transmission, glutamatergic (GO:0051966)3.39468324
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.38168867
57prepulse inhibition (GO:0060134)3.37679462
58cell migration in hindbrain (GO:0021535)3.33963075
59dendrite morphogenesis (GO:0048813)3.33315852
60regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.31606760
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.31576854
62axonal fasciculation (GO:0007413)3.30261259
63membrane depolarization during action potential (GO:0086010)3.28170294
64activation of protein kinase A activity (GO:0034199)3.27949122
65positive regulation of synaptic transmission, GABAergic (GO:0032230)3.26363886
66negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.24572875
67membrane hyperpolarization (GO:0060081)3.24208274
68positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.24053656
69transmission of nerve impulse (GO:0019226)3.23727316
70regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.23636717
71regulation of dendritic spine morphogenesis (GO:0061001)3.23006575
72regulation of neurotransmitter secretion (GO:0046928)3.22104869
73cerebellar granule cell differentiation (GO:0021707)3.20884910
74synapse assembly (GO:0007416)3.17807714
75behavioral response to cocaine (GO:0048148)3.15412101
76membrane depolarization (GO:0051899)3.14361604
77regulation of synaptic plasticity (GO:0048167)3.13070659
78potassium ion import (GO:0010107)3.12944871
79L-amino acid import (GO:0043092)3.12375590
80neuromuscular process controlling balance (GO:0050885)3.12232616
81neuromuscular process controlling posture (GO:0050884)3.11563487
82regulation of vesicle fusion (GO:0031338)3.10595046
83regulation of synapse maturation (GO:0090128)3.10428895
84long-term synaptic potentiation (GO:0060291)3.09064840
85presynaptic membrane assembly (GO:0097105)3.08290063
86cochlea development (GO:0090102)3.07836004
87C4-dicarboxylate transport (GO:0015740)3.06980031
88auditory behavior (GO:0031223)3.05952038
89positive regulation of potassium ion transmembrane transport (GO:1901381)3.05546603
90response to auditory stimulus (GO:0010996)3.02184558
91positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.01883315
92regulation of neurotransmitter transport (GO:0051588)3.01094645
93potassium ion homeostasis (GO:0055075)2.98641775
94response to histamine (GO:0034776)2.94615534
95positive regulation of synapse assembly (GO:0051965)2.94489357
96serotonin metabolic process (GO:0042428)2.93515191
97synaptic vesicle transport (GO:0048489)2.93068913
98establishment of synaptic vesicle localization (GO:0097480)2.93068913
99synapse organization (GO:0050808)2.92641820
100regulation of voltage-gated calcium channel activity (GO:1901385)2.90721699
101negative regulation of microtubule polymerization (GO:0031115)2.90498592
102detection of calcium ion (GO:0005513)2.89990764
103* synaptic transmission (GO:0007268)2.89642814
104social behavior (GO:0035176)2.89597197
105intraspecies interaction between organisms (GO:0051703)2.89597197
106positive regulation of dendritic spine development (GO:0060999)2.88208526
107cellular sodium ion homeostasis (GO:0006883)2.87983678
108presynaptic membrane organization (GO:0097090)2.87593002
109neurotransmitter uptake (GO:0001504)2.87588806
110learning (GO:0007612)2.87450926
111cerebellar Purkinje cell layer development (GO:0021680)2.85091836
112central nervous system projection neuron axonogenesis (GO:0021952)2.83683734
113adult walking behavior (GO:0007628)2.83191986
114behavioral fear response (GO:0001662)2.81752293
115behavioral defense response (GO:0002209)2.81752293
116mechanosensory behavior (GO:0007638)2.81491488
117pyrimidine nucleobase catabolic process (GO:0006208)2.73687226
118startle response (GO:0001964)2.71016280
119regulation of dendritic spine development (GO:0060998)2.70337413
120neuromuscular synaptic transmission (GO:0007274)2.69001224
121amino acid import (GO:0043090)2.68372175
122neuronal ion channel clustering (GO:0045161)2.67147733
123urinary tract smooth muscle contraction (GO:0014848)2.65092946
124negative regulation of cytosolic calcium ion concentration (GO:0051481)2.65004904
125nucleobase catabolic process (GO:0046113)2.60496561
126regulation of neurotransmitter uptake (GO:0051580)2.59552335
127cell differentiation in hindbrain (GO:0021533)2.58815792
128alanine transport (GO:0032328)2.58727514

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.23110819
2GBX2_23144817_ChIP-Seq_PC3_Human3.35291987
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.14788950
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09110132
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.04322543
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74605128
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74605128
8* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65656986
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.63871462
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60719829
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58216916
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.54570332
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52577350
14* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49081817
15* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.46545104
16DROSHA_22980978_ChIP-Seq_HELA_Human2.43134892
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.30133720
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.25969212
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24783743
20RARB_27405468_Chip-Seq_BRAIN_Mouse2.22162044
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.18949864
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16392596
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.12639358
24IKZF1_21737484_ChIP-ChIP_HCT116_Human2.08070083
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.05822492
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98803968
27TAF15_26573619_Chip-Seq_HEK293_Human1.96107450
28AR_21572438_ChIP-Seq_LNCaP_Human1.89584209
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87842272
30* GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.75571285
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.71917340
32* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.70403631
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.68260247
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68047340
35* GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66540363
36ZNF274_21170338_ChIP-Seq_K562_Hela1.64406996
37* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58639768
38* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57786900
39* ERG_21242973_ChIP-ChIP_JURKAT_Human1.55046245
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48714040
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.40138699
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.40039627
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39426826
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38671234
45IGF1R_20145208_ChIP-Seq_DFB_Human1.37420512
46P300_19829295_ChIP-Seq_ESCs_Human1.37326391
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.36842493
48ZFP57_27257070_Chip-Seq_ESCs_Mouse1.35270337
49* RING1B_27294783_Chip-Seq_ESCs_Mouse1.34016233
50SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31642979
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.26059137
52AR_25329375_ChIP-Seq_VCAP_Human1.26016256
53* AR_19668381_ChIP-Seq_PC3_Human1.22264875
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22173657
55* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.21075002
56* STAT3_23295773_ChIP-Seq_U87_Human1.20740843
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20720017
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20006088
59* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.18614139
60* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18455814
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.17824900
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16154499
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.15090566
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15076396
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.14589761
66WT1_25993318_ChIP-Seq_PODOCYTE_Human1.14288608
67* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12854903
68* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10473526
69ARNT_22903824_ChIP-Seq_MCF-7_Human1.09622466
70AHR_22903824_ChIP-Seq_MCF-7_Human1.09470116
71DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09363537
72RNF2_27304074_Chip-Seq_NSC_Mouse1.08861275
73* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07028039
74TCF4_23295773_ChIP-Seq_U87_Human1.07023461
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06555643
76* NANOG_18555785_Chip-Seq_ESCs_Mouse1.05183927
77BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04781364
78AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04381282
79P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03299864
80ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03287626
81* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02389422
82ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02016504
83BCAT_22108803_ChIP-Seq_LS180_Human1.01811266
84KDM2B_26808549_Chip-Seq_K562_Human1.01069258
85* FUS_26573619_Chip-Seq_HEK293_Human1.00968875
86TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00866948
87ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.00781838
88* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00093482
89RUNX2_22187159_ChIP-Seq_PCA_Human0.99483102
90RXR_22108803_ChIP-Seq_LS180_Human0.98787589
91NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98779348
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.98563930
93SMAD3_21741376_ChIP-Seq_ESCs_Human0.98210748
94EP300_21415370_ChIP-Seq_HL-1_Mouse0.97758679
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97066981
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96906013
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96906013
98CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.96461213
99* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96461095
100WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95532185
101TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94919834
102PRDM14_20953172_ChIP-Seq_ESCs_Human0.94101482
103HTT_18923047_ChIP-ChIP_STHdh_Human0.94009455
104TP53_18474530_ChIP-ChIP_U2OS_Human0.93316444
105KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93006033
106CBP_20019798_ChIP-Seq_JUKART_Human0.92833345
107IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.92833345
108POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92452406
109SMAD4_21741376_ChIP-Seq_HESCs_Human0.92369603
110RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91829527
111* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91570658
112UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.91202600
113STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91030303
114* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90968367
115TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88105442
116JUN_21703547_ChIP-Seq_K562_Human0.85900244
117TP53_16413492_ChIP-PET_HCT116_Human0.84831049
118OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84391455
119SMAD3_21741376_ChIP-Seq_HESCs_Human0.84360399
120VDR_22108803_ChIP-Seq_LS180_Human0.82497559

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.95313098
2MP0003880_abnormal_central_pattern4.73592742
3MP0003635_abnormal_synaptic_transmissio3.95407012
4MP0004270_analgesia3.34560393
5MP0009046_muscle_twitch3.28491923
6MP0009745_abnormal_behavioral_response3.15539127
7MP0001968_abnormal_touch/_nociception3.14601789
8MP0002063_abnormal_learning/memory/cond3.07687601
9MP0002064_seizures3.04346908
10MP0003136_yellow_coat_color2.87083329
11MP0005423_abnormal_somatic_nervous2.86530875
12MP0002572_abnormal_emotion/affect_behav2.67382412
13MP0002734_abnormal_mechanical_nocicepti2.62635291
14MP0002735_abnormal_chemical_nociception2.62028439
15MP0002272_abnormal_nervous_system2.51670156
16MP0002736_abnormal_nociception_after2.48652132
17MP0001486_abnormal_startle_reflex2.39204096
18MP0002822_catalepsy2.21897045
19MP0002733_abnormal_thermal_nociception2.18238709
20MP0001501_abnormal_sleep_pattern2.14160735
21MP0002067_abnormal_sensory_capabilities2.13928716
22MP0006276_abnormal_autonomic_nervous2.12926700
23MP0001440_abnormal_grooming_behavior2.12130603
24MP0004858_abnormal_nervous_system2.10629753
25MP0002184_abnormal_innervation2.09103993
26MP0001970_abnormal_pain_threshold2.04438721
27MP0000778_abnormal_nervous_system1.96887345
28MP0008569_lethality_at_weaning1.81071669
29MP0004924_abnormal_behavior1.80518263
30MP0005386_behavior/neurological_phenoty1.80518263
31MP0002557_abnormal_social/conspecific_i1.77105639
32MP0004811_abnormal_neuron_physiology1.74656221
33MP0001984_abnormal_olfaction1.74528722
34MP0000569_abnormal_digit_pigmentation1.70563683
35MP0003329_amyloid_beta_deposits1.64978421
36MP0002909_abnormal_adrenal_gland1.64784013
37MP0000955_abnormal_spinal_cord1.59976090
38MP0001905_abnormal_dopamine_level1.59026185
39MP0009780_abnormal_chondrocyte_physiolo1.53910502
40MP0003787_abnormal_imprinting1.52056551
41MP0001485_abnormal_pinna_reflex1.51017643
42MP0001529_abnormal_vocalization1.51013669
43MP0002882_abnormal_neuron_morphology1.47071489
44MP0002066_abnormal_motor_capabilities/c1.42137587
45MP0002837_dystrophic_cardiac_calcinosis1.35845703
46MP0003122_maternal_imprinting1.34651593
47MP0004142_abnormal_muscle_tone1.31106733
48MP0005646_abnormal_pituitary_gland1.30058282
49MP0003879_abnormal_hair_cell1.29880192
50MP0004885_abnormal_endolymph1.29025623
51MP0001502_abnormal_circadian_rhythm1.27767811
52MP0005551_abnormal_eye_electrophysiolog1.25457646
53MP0005645_abnormal_hypothalamus_physiol1.24124412
54MP0000751_myopathy1.18234405
55MP0002152_abnormal_brain_morphology1.15659859
56MP0000566_synostosis1.14768901
57MP0003633_abnormal_nervous_system1.13878879
58MP0004742_abnormal_vestibular_system1.09497540
59MP0001188_hyperpigmentation1.08779567
60MP0004145_abnormal_muscle_electrophysio1.05730097
61MP0003631_nervous_system_phenotype1.05078121
62MP0002229_neurodegeneration1.03655724
63MP0008872_abnormal_physiological_respon0.98004967
64MP0000026_abnormal_inner_ear0.95904935
65MP0003634_abnormal_glial_cell0.95625233
66MP0004215_abnormal_myocardial_fiber0.93025255
67MP0002090_abnormal_vision0.91832898
68MP0004133_heterotaxia0.91203054
69MP0003632_abnormal_nervous_system0.91166278
70MP0004085_abnormal_heartbeat0.90482397
71MP0005174_abnormal_tail_pigmentation0.88833061
72MP0002069_abnormal_eating/drinking_beha0.87613174
73MP0002876_abnormal_thyroid_physiology0.87549982
74MP0002638_abnormal_pupillary_reflex0.87457623
75MP0002752_abnormal_somatic_nervous0.86739889
76MP0005499_abnormal_olfactory_system0.86384486
77MP0005394_taste/olfaction_phenotype0.86384486
78MP0001177_atelectasis0.85210021
79MP0008877_abnormal_DNA_methylation0.83899740
80MP0010386_abnormal_urinary_bladder0.83252764
81MP0003137_abnormal_impulse_conducting0.78480828
82MP0001664_abnormal_digestion0.77986117
83MP0006072_abnormal_retinal_apoptosis0.77951399
84MP0004043_abnormal_pH_regulation0.77545706
85MP0000631_abnormal_neuroendocrine_gland0.76950486
86MP0001963_abnormal_hearing_physiology0.76570093
87MP0008961_abnormal_basal_metabolism0.76286102
88MP0005535_abnormal_body_temperature0.75858437
89MP0003283_abnormal_digestive_organ0.75203466
90MP0004233_abnormal_muscle_weight0.72213720
91MP0001986_abnormal_taste_sensitivity0.71470817
92MP0008874_decreased_physiological_sensi0.71446830
93MP0003690_abnormal_glial_cell0.71106772
94MP0004147_increased_porphyrin_level0.70735554
95MP0003861_abnormal_nervous_system0.66096586
96MP0003646_muscle_fatigue0.65455788
97MP0005409_darkened_coat_color0.65138065
98MP0000604_amyloidosis0.64740465
99MP0005167_abnormal_blood-brain_barrier0.64637590
100MP0004484_altered_response_of0.64171330
101MP0005253_abnormal_eye_physiology0.63989429
102MP0005623_abnormal_meninges_morphology0.63308910
103MP0001943_abnormal_respiration0.62698845
104MP0005187_abnormal_penis_morphology0.62670540
105MP0000013_abnormal_adipose_tissue0.61772289
106MP0002751_abnormal_autonomic_nervous0.61752911
107MP0005171_absent_coat_pigmentation0.61253270
108MP0000920_abnormal_myelination0.60022922
109MP0002928_abnormal_bile_duct0.58780270
110MP0003011_delayed_dark_adaptation0.58440537
111MP0002653_abnormal_ependyma_morphology0.58308425
112MP0001299_abnormal_eye_distance/0.57570321
113MP0010770_preweaning_lethality0.56184619
114MP0002082_postnatal_lethality0.56184619
115MP0010769_abnormal_survival0.55864767
116MP0003121_genomic_imprinting0.55061912

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.69497041
2Myokymia (HP:0002411)6.34405740
3Focal seizures (HP:0007359)5.53195240
4Visual hallucinations (HP:0002367)5.30297052
5Febrile seizures (HP:0002373)4.53531373
6Atonic seizures (HP:0010819)4.47019373
7Epileptic encephalopathy (HP:0200134)4.41136482
8Action tremor (HP:0002345)4.16395148
9Absence seizures (HP:0002121)4.10227777
10* Progressive cerebellar ataxia (HP:0002073)4.09904360
11Limb dystonia (HP:0002451)3.97680370
12Generalized tonic-clonic seizures (HP:0002069)3.74905999
13Dialeptic seizures (HP:0011146)3.68929592
14Supranuclear gaze palsy (HP:0000605)3.31553760
15Pheochromocytoma (HP:0002666)3.30213689
16Broad-based gait (HP:0002136)3.27494722
17Ankle clonus (HP:0011448)3.14579624
18Depression (HP:0000716)3.06497646
19Abnormality of the lower motor neuron (HP:0002366)3.03352607
20Dysdiadochokinesis (HP:0002075)3.03058282
21Mutism (HP:0002300)3.02513549
22Poor eye contact (HP:0000817)2.91274526
23Abnormal eating behavior (HP:0100738)2.90688954
24Impaired vibration sensation in the lower limbs (HP:0002166)2.84687654
25Neuroendocrine neoplasm (HP:0100634)2.83032769
26* Truncal ataxia (HP:0002078)2.81992682
27Urinary bladder sphincter dysfunction (HP:0002839)2.79975613
28Anxiety (HP:0000739)2.78868766
29Dysmetria (HP:0001310)2.77577577
30Insidious onset (HP:0003587)2.72870446
31Termporal pattern (HP:0011008)2.72870446
32Postural instability (HP:0002172)2.71747061
33* Gaze-evoked nystagmus (HP:0000640)2.71735810
34Amblyopia (HP:0000646)2.71640446
35Impaired social interactions (HP:0000735)2.69649362
36Abnormal social behavior (HP:0012433)2.69649362
37Hyperventilation (HP:0002883)2.67816324
38Progressive inability to walk (HP:0002505)2.64247007
39Genetic anticipation (HP:0003743)2.63998828
40Split foot (HP:0001839)2.58218605
41Excessive salivation (HP:0003781)2.56605444
42Drooling (HP:0002307)2.56605444
43Papilledema (HP:0001085)2.55499698
44Urinary urgency (HP:0000012)2.54410707
45Scanning speech (HP:0002168)2.53713571
46Hemiparesis (HP:0001269)2.52381783
47Gait imbalance (HP:0002141)2.52335129
48Impaired smooth pursuit (HP:0007772)2.51981177
49Large for gestational age (HP:0001520)2.47199530
50Ventricular fibrillation (HP:0001663)2.45026676
51Hemiplegia (HP:0002301)2.43649477
52Bradykinesia (HP:0002067)2.42683197
53Polyphagia (HP:0002591)2.42584366
54Fetal akinesia sequence (HP:0001989)2.38756875
55Failure to thrive in infancy (HP:0001531)2.38565418
56Cerebral inclusion bodies (HP:0100314)2.38391552
57Intestinal atresia (HP:0011100)2.35582258
58Agitation (HP:0000713)2.34533007
59Spastic gait (HP:0002064)2.33306325
60Epileptiform EEG discharges (HP:0011182)2.32196308
61Dysmetric saccades (HP:0000641)2.31587400
62Intention tremor (HP:0002080)2.30778013
63Sleep apnea (HP:0010535)2.30068871
64Neoplasm of the peripheral nervous system (HP:0100007)2.29723115
65Torticollis (HP:0000473)2.29584788
66EEG with generalized epileptiform discharges (HP:0011198)2.26442155
67Amyotrophic lateral sclerosis (HP:0007354)2.26344680
68Abnormality of binocular vision (HP:0011514)2.23146594
69Diplopia (HP:0000651)2.23146594
70Abnormality of the corticospinal tract (HP:0002492)2.22914836
71Megalencephaly (HP:0001355)2.22186688
72Gastrointestinal atresia (HP:0002589)2.20824456
73Hypoventilation (HP:0002791)2.19861200
74Neurofibrillary tangles (HP:0002185)2.15619841
75Focal dystonia (HP:0004373)2.15565341
76Hypsarrhythmia (HP:0002521)2.11714021
77Medial flaring of the eyebrow (HP:0010747)2.11708912
78Hyperlipoproteinemia (HP:0010980)2.08832848
79Blue irides (HP:0000635)2.08758916
80Prolonged QT interval (HP:0001657)2.08209174
81Status epilepticus (HP:0002133)2.07490124
82* Abnormality of ocular smooth pursuit (HP:0000617)2.07434902
83Spastic tetraplegia (HP:0002510)2.06388778
84True hermaphroditism (HP:0010459)2.06085574
85Abnormality of the diencephalon (HP:0010662)2.04965382
86Syncope (HP:0001279)2.04526460
87Lower limb muscle weakness (HP:0007340)2.00295416
88Stereotypic behavior (HP:0000733)1.99136659
89Absent speech (HP:0001344)1.98787217
90Incomplete penetrance (HP:0003829)1.98379939
91Optic nerve hypoplasia (HP:0000609)1.95043626
92Neuronal loss in central nervous system (HP:0002529)1.91165204
93Craniofacial dystonia (HP:0012179)1.91044581
94Central scotoma (HP:0000603)1.90303762
95Genital tract atresia (HP:0001827)1.89992997
96Morphological abnormality of the pyramidal tract (HP:0002062)1.88865420
97Aplasia/Hypoplasia of the brainstem (HP:0007362)1.87297811
98Hypoplasia of the brainstem (HP:0002365)1.87297811
99Oligodactyly (hands) (HP:0001180)1.87169723
100Psychosis (HP:0000709)1.87015867
101Inability to walk (HP:0002540)1.86834636
102Impaired vibratory sensation (HP:0002495)1.85898805
103Congenital primary aphakia (HP:0007707)1.84590509
104* Gait ataxia (HP:0002066)1.84246478
105Vaginal atresia (HP:0000148)1.83092248
106Rapidly progressive (HP:0003678)1.81866257
107Pointed chin (HP:0000307)1.80264701
108Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.79814440
109Degeneration of the lateral corticospinal tracts (HP:0002314)1.79814440
110Insomnia (HP:0100785)1.79790712
111Esophageal atresia (HP:0002032)1.79059777
112Generalized myoclonic seizures (HP:0002123)1.78017128
113Specific learning disability (HP:0001328)1.76673283
114Bundle branch block (HP:0011710)1.75789402
115Clonus (HP:0002169)1.75630724
116Neoplasm of the heart (HP:0100544)1.75218335
117Septo-optic dysplasia (HP:0100842)1.74165355
118Hypercortisolism (HP:0001578)1.72727449
119Abnormal EKG (HP:0003115)1.72335110
120Lower limb asymmetry (HP:0100559)1.71587732
121Fair hair (HP:0002286)1.71094397
122Bronchomalacia (HP:0002780)1.69932501
123Myotonia (HP:0002486)1.69139119
124Esotropia (HP:0000565)1.68531583
125Abnormality of salivation (HP:0100755)1.68241664
126Akinesia (HP:0002304)1.67937047
127Spastic tetraparesis (HP:0001285)1.67160624
128Pancreatic fibrosis (HP:0100732)1.62138089
129Widely spaced teeth (HP:0000687)1.61992675
130Obstructive sleep apnea (HP:0002870)1.61856116
131Nephronophthisis (HP:0000090)1.61300131
132Protruding tongue (HP:0010808)1.60058611
133Heterochromia iridis (HP:0001100)1.59456269

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.19530669
2MAP3K93.64073718
3MARK13.58470537
4MAP3K43.49526150
5EPHA43.08995416
6MAP2K72.78844541
7MINK12.67350731
8PAK62.56772403
9MAPK152.50340534
10NTRK22.43962407
11MAP2K42.09652707
12DAPK22.06903560
13MAP3K121.97127334
14KSR21.93837854
15FRK1.81518660
16GRK51.81460428
17PRKD31.79897171
18NTRK11.74042155
19MAPK131.61483706
20CASK1.58695141
21PNCK1.56902956
22PLK21.53872640
23CDK51.47892749
24CAMKK11.47749772
25PHKG11.45207321
26PHKG21.45207321
27KSR11.42027152
28TNIK1.38569504
29PKN11.37612708
30LMTK21.37336987
31STK381.32901162
32LATS21.28216837
33SIK21.27155163
34RET1.26498633
35TYRO31.26041445
36EPHA31.24591978
37PRKCG1.19808010
38DAPK11.19722766
39PRPF4B1.16412965
40ARAF1.16155379
41UHMK11.15670538
42TSSK61.14640671
43FGFR21.14237602
44CAMK2A1.06716909
45FES1.01973580
46MAP3K21.01633134
47SGK2231.00957053
48SGK4941.00957053
49CDK180.99507942
50CDK150.98481172
51CDK140.98041390
52RIPK40.98035975
53CAMKK20.96856366
54CSNK1G20.96770177
55CDK190.94254726
56PRKCH0.91868484
57SGK20.90738837
58PINK10.85965175
59DYRK1A0.85677855
60ADRBK20.85618233
61CDK11A0.84910280
62PAK30.84388104
63CAMK2B0.83941819
64CAMK10.82791526
65PTK2B0.81400215
66MAPKAPK50.81199499
67STK110.79273024
68CSNK1G10.77726563
69CAMK1G0.73809004
70SGK30.73471000
71BMPR1B0.72295600
72RIPK10.71578427
73DYRK20.71493581
74ALK0.69826782
75SGK10.66193566
76MAP4K20.65800762
77WNK10.65412197
78GRK10.65328016
79CAMK2D0.65195297
80TAOK10.63714282
81PIK3CA0.62185184
82NEK60.61344499
83WNK30.60593189
84MAP3K130.59988438
85CSNK1A1L0.59174491
86CAMK2G0.58681963
87CSNK1G30.55141711
88PRKG10.54544349
89PRKCZ0.53925921
90ROCK10.53099815
91STK38L0.52937499
92BCR0.52844819
93CDK30.52479782
94OXSR10.52236736
95FER0.52017754
96MAPK120.51229338
97PRKCE0.50856852
98CDC42BPA0.50488199
99ERBB20.50451240
100CAMK40.49393184
101FGR0.49348347
102RPS6KA30.48862253
103INSRR0.48372769
104MAP3K60.48287003
105NEK10.48181921
106MARK20.48115018
107PRKACA0.47685093
108MAP2K60.47505959
109RAF10.45323224
110NME10.45277633
111MAP3K10.44246753
112RPS6KA20.43977281
113ROCK20.43967056
114BMPR20.43238816
115MAPKAPK30.42930399
116PDK10.42881497
117ADRBK10.42150951
118STK390.41178167
119MAPK100.40951520
120FYN0.39890147
121WNK40.39131086
122PRKD10.38745858
123CSNK1D0.38439796
124CSNK1A10.38255385
125MAP2K10.37353382
126AKT30.37256401
127LIMK10.36131724
128SCYL20.35214209
129PDPK10.34899119
130PRKCB0.34715349
131MAP3K70.34621062

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.85298123
2Synaptic vesicle cycle_Homo sapiens_hsa047213.42519303
3GABAergic synapse_Homo sapiens_hsa047272.74283287
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.68699590
5Circadian entrainment_Homo sapiens_hsa047132.55890901
6Glutamatergic synapse_Homo sapiens_hsa047242.52155901
7Long-term potentiation_Homo sapiens_hsa047202.43047455
8Olfactory transduction_Homo sapiens_hsa047402.41026002
9Morphine addiction_Homo sapiens_hsa050322.38200671
10Amphetamine addiction_Homo sapiens_hsa050312.30796277
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27912333
12Dopaminergic synapse_Homo sapiens_hsa047282.18307649
13Salivary secretion_Homo sapiens_hsa049702.01394380
14Taste transduction_Homo sapiens_hsa047421.99132726
15Insulin secretion_Homo sapiens_hsa049111.96071690
16Cholinergic synapse_Homo sapiens_hsa047251.88232556
17Gastric acid secretion_Homo sapiens_hsa049711.78059058
18Cocaine addiction_Homo sapiens_hsa050301.75484057
19Serotonergic synapse_Homo sapiens_hsa047261.70913938
20Long-term depression_Homo sapiens_hsa047301.68905519
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68524126
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.64757723
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64460557
24Renin secretion_Homo sapiens_hsa049241.60076351
25Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.53962263
26Oxytocin signaling pathway_Homo sapiens_hsa049211.52183828
27Calcium signaling pathway_Homo sapiens_hsa040201.51887800
28Collecting duct acid secretion_Homo sapiens_hsa049661.50321880
29Butanoate metabolism_Homo sapiens_hsa006501.46094282
30Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.45081230
31GnRH signaling pathway_Homo sapiens_hsa049121.35023368
32Cardiac muscle contraction_Homo sapiens_hsa042601.33407405
33Gap junction_Homo sapiens_hsa045401.32308214
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.24462144
35cAMP signaling pathway_Homo sapiens_hsa040241.20437122
36Type II diabetes mellitus_Homo sapiens_hsa049301.19976348
37Estrogen signaling pathway_Homo sapiens_hsa049151.13249414
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13146781
39Axon guidance_Homo sapiens_hsa043601.11296518
40Vitamin B6 metabolism_Homo sapiens_hsa007501.10101277
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.08684648
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.07222482
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07155492
44beta-Alanine metabolism_Homo sapiens_hsa004101.03967950
45Glioma_Homo sapiens_hsa052141.03839939
46Dorso-ventral axis formation_Homo sapiens_hsa043201.01243496
47ErbB signaling pathway_Homo sapiens_hsa040121.00666497
48Phototransduction_Homo sapiens_hsa047440.99931344
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.98632951
50Melanogenesis_Homo sapiens_hsa049160.97794454
51Maturity onset diabetes of the young_Homo sapiens_hsa049500.96535684
52Vibrio cholerae infection_Homo sapiens_hsa051100.91867637
53Primary bile acid biosynthesis_Homo sapiens_hsa001200.87335512
54Pancreatic secretion_Homo sapiens_hsa049720.85767643
55Dilated cardiomyopathy_Homo sapiens_hsa054140.84292424
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.83328504
57Linoleic acid metabolism_Homo sapiens_hsa005910.83230593
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.81199218
59Oocyte meiosis_Homo sapiens_hsa041140.79673146
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75818389
61Thyroid hormone synthesis_Homo sapiens_hsa049180.75165146
62Histidine metabolism_Homo sapiens_hsa003400.74271358
63Caffeine metabolism_Homo sapiens_hsa002320.70231235
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.69256970
65Choline metabolism in cancer_Homo sapiens_hsa052310.67104846
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.64991373
67MAPK signaling pathway_Homo sapiens_hsa040100.64116315
68Nitrogen metabolism_Homo sapiens_hsa009100.64059597
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.63425071
70Alzheimers disease_Homo sapiens_hsa050100.63389960
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62085930
72Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61578402
73Arginine biosynthesis_Homo sapiens_hsa002200.61313476
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61286318
75Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.60360895
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.58539623
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.58460021
78Mineral absorption_Homo sapiens_hsa049780.58060454
79PPAR signaling pathway_Homo sapiens_hsa033200.57521182
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57442805
81Endometrial cancer_Homo sapiens_hsa052130.55797654
82ABC transporters_Homo sapiens_hsa020100.55386384
83Parkinsons disease_Homo sapiens_hsa050120.55314873
84Fatty acid biosynthesis_Homo sapiens_hsa000610.55165501
85Glucagon signaling pathway_Homo sapiens_hsa049220.54778330
86Tryptophan metabolism_Homo sapiens_hsa003800.54258525
87Alcoholism_Homo sapiens_hsa050340.54241717
88Oxidative phosphorylation_Homo sapiens_hsa001900.53883226
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53369365
90mTOR signaling pathway_Homo sapiens_hsa041500.52853664
91VEGF signaling pathway_Homo sapiens_hsa043700.52331970
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.51761812
93Ether lipid metabolism_Homo sapiens_hsa005650.50828088
94Inositol phosphate metabolism_Homo sapiens_hsa005620.50812789
95Ras signaling pathway_Homo sapiens_hsa040140.50372918
96Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50289129
97Arginine and proline metabolism_Homo sapiens_hsa003300.50078694
98Insulin signaling pathway_Homo sapiens_hsa049100.49479529
99Rap1 signaling pathway_Homo sapiens_hsa040150.48983146
100Propanoate metabolism_Homo sapiens_hsa006400.48706453
101Bile secretion_Homo sapiens_hsa049760.48696963
102Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.48423491
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.47756855
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.47264093
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.45620755
106Sphingolipid signaling pathway_Homo sapiens_hsa040710.45049421
107Endocytosis_Homo sapiens_hsa041440.44115212
108Renal cell carcinoma_Homo sapiens_hsa052110.43993751
109Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43459310
110Retinol metabolism_Homo sapiens_hsa008300.43323396
111Wnt signaling pathway_Homo sapiens_hsa043100.42014769
112Prion diseases_Homo sapiens_hsa050200.39658116
113Folate biosynthesis_Homo sapiens_hsa007900.39377290
114Non-small cell lung cancer_Homo sapiens_hsa052230.39067131
115Circadian rhythm_Homo sapiens_hsa047100.38915827
116Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.38135689
117Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36635086
118Colorectal cancer_Homo sapiens_hsa052100.35212361
119Regulation of autophagy_Homo sapiens_hsa041400.34680881
120Hedgehog signaling pathway_Homo sapiens_hsa043400.33992860
121Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33500285
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33340971
123Huntingtons disease_Homo sapiens_hsa050160.32860559
124Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32547409
125Hippo signaling pathway_Homo sapiens_hsa043900.32540724
126Type I diabetes mellitus_Homo sapiens_hsa049400.30939185
127Central carbon metabolism in cancer_Homo sapiens_hsa052300.30453041
128Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29125227
129Ovarian steroidogenesis_Homo sapiens_hsa049130.28426187

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