ANK3

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: Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)5.82609590
2central nervous system myelination (GO:0022010)5.82609590
3neuron cell-cell adhesion (GO:0007158)4.88881272
4presynaptic membrane assembly (GO:0097105)4.81654881
5presynaptic membrane organization (GO:0097090)4.53997223
6regulation of short-term neuronal synaptic plasticity (GO:0048172)4.43005561
7neuronal action potential propagation (GO:0019227)4.38793905
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.36372978
9transmission of nerve impulse (GO:0019226)4.35489212
10myelination (GO:0042552)4.30272100
11ensheathment of neurons (GO:0007272)4.27277308
12axon ensheathment (GO:0008366)4.27277308
13negative regulation of neurotransmitter secretion (GO:0046929)4.17327125
14vocalization behavior (GO:0071625)4.11711263
15pyrimidine nucleobase catabolic process (GO:0006208)3.99486075
16ionotropic glutamate receptor signaling pathway (GO:0035235)3.99404072
17positive regulation of synapse maturation (GO:0090129)3.96966156
18protein localization to synapse (GO:0035418)3.94954107
19positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.90440882
20regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.89643574
21cerebellar granule cell differentiation (GO:0021707)3.89071142
22locomotory exploration behavior (GO:0035641)3.87739658
23negative regulation of neurotransmitter transport (GO:0051589)3.83704147
24synaptic vesicle exocytosis (GO:0016079)3.83694012
25membrane depolarization during action potential (GO:0086010)3.83472787
26long-chain fatty acid biosynthetic process (GO:0042759)3.81957638
27dendritic spine morphogenesis (GO:0060997)3.81319334
28synaptic vesicle docking involved in exocytosis (GO:0016081)3.79118263
29cellular potassium ion homeostasis (GO:0030007)3.71973812
30synaptic vesicle maturation (GO:0016188)3.71938254
31fatty acid elongation (GO:0030497)3.70809994
32synaptic transmission, glutamatergic (GO:0035249)3.69095750
33glutamate receptor signaling pathway (GO:0007215)3.68912875
34neuron recognition (GO:0008038)3.68635635
35regulation of synaptic vesicle exocytosis (GO:2000300)3.63644153
36serotonin metabolic process (GO:0042428)3.63600269
37neuronal ion channel clustering (GO:0045161)3.60029519
38adult walking behavior (GO:0007628)3.55488199
39neuron-neuron synaptic transmission (GO:0007270)3.55461639
40behavioral response to nicotine (GO:0035095)3.54421806
41gamma-aminobutyric acid signaling pathway (GO:0007214)3.47053777
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.46860976
43gamma-aminobutyric acid transport (GO:0015812)3.41706000
44positive regulation of potassium ion transmembrane transport (GO:1901381)3.40920902
45regulation of glutamate receptor signaling pathway (GO:1900449)3.38499832
46glutamate secretion (GO:0014047)3.37881824
47axonal fasciculation (GO:0007413)3.36393643
48dendrite morphogenesis (GO:0048813)3.29834523
49primary amino compound metabolic process (GO:1901160)3.26634802
50nucleobase catabolic process (GO:0046113)3.23920891
51regulation of synapse maturation (GO:0090128)3.23882918
52regulation of dendritic spine morphogenesis (GO:0061001)3.23567103
53cell migration in hindbrain (GO:0021535)3.20993551
54glycerophospholipid catabolic process (GO:0046475)3.20589630
55L-amino acid import (GO:0043092)3.19338948
56establishment of mitochondrion localization (GO:0051654)3.18653851
57regulation of excitatory postsynaptic membrane potential (GO:0060079)3.18460000
58regulation of long-term neuronal synaptic plasticity (GO:0048169)3.16054654
59regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.15505354
60negative regulation of axonogenesis (GO:0050771)3.15327891
61regulation of neuronal synaptic plasticity (GO:0048168)3.13537474
62peptidyl-tyrosine autophosphorylation (GO:0038083)3.13280400
63layer formation in cerebral cortex (GO:0021819)3.12279294
64cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.11781225
65regulation of membrane repolarization (GO:0060306)3.09940076
66membrane hyperpolarization (GO:0060081)3.09666034
67cerebral cortex radially oriented cell migration (GO:0021799)3.09616868
68positive regulation of dendritic spine morphogenesis (GO:0061003)3.08560648
69exploration behavior (GO:0035640)3.07455089
70regulation of synaptic vesicle transport (GO:1902803)3.06958005
71negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.06853672
72cell differentiation in hindbrain (GO:0021533)3.06538416
73negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.05962981
74regulation of postsynaptic membrane potential (GO:0060078)3.05143278
75G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.05074759
76membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.03432199
77regulation of calcium ion-dependent exocytosis (GO:0017158)3.02524471
78postsynaptic membrane organization (GO:0001941)3.01051864
79central nervous system projection neuron axonogenesis (GO:0021952)2.99504327
80neurotransmitter-gated ion channel clustering (GO:0072578)2.98949683
81negative regulation of protein localization to cell surface (GO:2000009)2.97985444
82startle response (GO:0001964)2.95867430
83regulation of dendritic spine development (GO:0060998)2.95549615
84oligodendrocyte differentiation (GO:0048709)2.95299877
85long-term memory (GO:0007616)2.93817894
86mechanosensory behavior (GO:0007638)2.93720989
87regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.93143080
88negative regulation of axon extension (GO:0030517)2.91607142
89neurotransmitter secretion (GO:0007269)2.91375932
90apical protein localization (GO:0045176)2.90944596
91regulation of voltage-gated calcium channel activity (GO:1901385)2.89223525
92potassium ion import (GO:0010107)2.88998371
93response to auditory stimulus (GO:0010996)2.88936604
94substantia nigra development (GO:0021762)2.87563828
95dendrite development (GO:0016358)2.86324121
96mating behavior (GO:0007617)2.86216139
97negative regulation of synaptic transmission, GABAergic (GO:0032229)2.83715748
98neuromuscular synaptic transmission (GO:0007274)2.82123698
99regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.82035847
100* positive regulation of membrane potential (GO:0045838)2.81080865
101positive regulation of synapse assembly (GO:0051965)2.80449281
102cell communication involved in cardiac conduction (GO:0086065)2.77653002
103multicellular organismal signaling (GO:0035637)2.77487329
104* neuronal action potential (GO:0019228)2.77465325
105eye photoreceptor cell differentiation (GO:0001754)2.77378389
106photoreceptor cell differentiation (GO:0046530)2.77378389
107negative regulation of cytosolic calcium ion concentration (GO:0051481)2.76882398
108cell communication by electrical coupling (GO:0010644)2.76605025
109positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.76264186
110cellular response to epinephrine stimulus (GO:0071872)2.76063952
111synapse assembly (GO:0007416)2.75083394
112nerve growth factor signaling pathway (GO:0038180)2.74993391
113membrane depolarization (GO:0051899)2.74718027
114regulation of synaptic transmission, glutamatergic (GO:0051966)2.74564552
115regulation of dendrite morphogenesis (GO:0048814)2.74053884
116* action potential (GO:0001508)2.73673121
117positive regulation of dendritic spine development (GO:0060999)2.72782328
118auditory behavior (GO:0031223)2.72542864
119regulation of neurotransmitter levels (GO:0001505)2.72047637
120regulation of collateral sprouting (GO:0048670)2.71979943
121cellular sodium ion homeostasis (GO:0006883)2.71322484
122positive regulation of potassium ion transport (GO:0043268)2.70730459
123asymmetric protein localization (GO:0008105)2.70696950
124cerebellar Purkinje cell differentiation (GO:0021702)2.70619512
125regulation of neurotransmitter secretion (GO:0046928)2.69353353
126regulation of potassium ion transmembrane transport (GO:1901379)2.69184580
127regulation of vesicle fusion (GO:0031338)2.68706395
128cochlea development (GO:0090102)2.67190350
129* synapse organization (GO:0050808)2.66590051
130adult behavior (GO:0030534)2.65560770
131neurotransmitter transport (GO:0006836)2.64942163
132dendritic spine organization (GO:0097061)2.64639890
133regulation of synaptic plasticity (GO:0048167)2.64435405
134learning (GO:0007612)2.62393586
135potassium ion homeostasis (GO:0055075)2.61962231
136regulation of synapse structural plasticity (GO:0051823)2.61815373

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.73011020
2* GBX2_23144817_ChIP-Seq_PC3_Human3.82323297
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.90691250
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.90131214
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.85796403
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.53653393
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53384663
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53384663
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.35718025
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.35249272
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.34325782
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.33499104
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.32126675
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.27788056
15TAF15_26573619_Chip-Seq_HEK293_Human2.27776185
16DROSHA_22980978_ChIP-Seq_HELA_Human2.26432003
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.26280628
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.19589223
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.12806673
20REST_21632747_ChIP-Seq_MESCs_Mouse2.12785159
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.03706535
22RARB_27405468_Chip-Seq_BRAIN_Mouse1.94392082
23HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.85253004
24* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.84573283
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84463657
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.82944179
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82881916
28AR_21572438_ChIP-Seq_LNCaP_Human1.80154406
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.75109917
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74435846
31* REST_18959480_ChIP-ChIP_MESCs_Mouse1.68951080
32* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66036371
33CBX2_27304074_Chip-Seq_ESCs_Mouse1.63470410
34* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.60954011
35PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.60031102
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58463711
37SMAD3_21741376_ChIP-Seq_EPCs_Human1.57603127
38* SMAD4_21799915_ChIP-Seq_A2780_Human1.53281468
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.53246186
40CDX2_19796622_ChIP-Seq_MESCs_Mouse1.53029009
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.51554517
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.50349665
43P300_19829295_ChIP-Seq_ESCs_Human1.49360923
44TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.47279258
45VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.45303116
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.45167204
47NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.43998039
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43909174
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.42957215
50* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41721783
51CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.40253146
52ER_23166858_ChIP-Seq_MCF-7_Human1.37367405
53VDR_22108803_ChIP-Seq_LS180_Human1.33860505
54ZNF274_21170338_ChIP-Seq_K562_Hela1.33101474
55FUS_26573619_Chip-Seq_HEK293_Human1.32513641
56STAT3_23295773_ChIP-Seq_U87_Human1.32123569
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30448938
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.30340978
59RNF2_27304074_Chip-Seq_NSC_Mouse1.29961895
60P53_22127205_ChIP-Seq_FIBROBLAST_Human1.25424740
61BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.23475028
62SOX2_21211035_ChIP-Seq_LN229_Gbm1.21608131
63* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20116631
64IKZF1_21737484_ChIP-ChIP_HCT116_Human1.19218473
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18717784
66RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.17676759
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.17068114
68* TCF4_23295773_ChIP-Seq_U87_Human1.16977341
69TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14576074
70NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14540077
71* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13058899
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.12181503
73AHR_22903824_ChIP-Seq_MCF-7_Human1.11348607
74CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10813774
75ERG_21242973_ChIP-ChIP_JURKAT_Human1.10580181
76RING1B_27294783_Chip-Seq_NPCs_Mouse1.09929976
77* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09261777
78EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.08748906
79AR_25329375_ChIP-Seq_VCAP_Human1.07462283
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.06705557
81TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05242481
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.03914752
83RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.03712353
84* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02801136
85* AR_19668381_ChIP-Seq_PC3_Human1.02796953
86KDM2B_26808549_Chip-Seq_REH_Human1.02393360
87EWS_26573619_Chip-Seq_HEK293_Human1.02163056
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01937037
89* RUNX2_22187159_ChIP-Seq_PCA_Human1.01805052
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.01770146
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00064674
92EP300_21415370_ChIP-Seq_HL-1_Mouse1.00046426
93PRDM14_20953172_ChIP-Seq_ESCs_Human0.99343715
94SMAD3_21741376_ChIP-Seq_ESCs_Human0.98960261
95FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.98128843
96KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97912524
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97640660
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.97640660
99TAL1_26923725_Chip-Seq_HPCs_Mouse0.96527005
100MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96287725
101TP53_16413492_ChIP-PET_HCT116_Human0.95309649
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95219551
103SMAD_19615063_ChIP-ChIP_OVARY_Human0.94283135
104IGF1R_20145208_ChIP-Seq_DFB_Human0.93625404
105CMYC_18555785_Chip-Seq_ESCs_Mouse0.92181837
106SMAD4_21741376_ChIP-Seq_HESCs_Human0.89083715
107* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88980814
108* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88255571
109JUN_21703547_ChIP-Seq_K562_Human0.88018102
110EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87477328
111PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87248198
112* SOX9_26525672_Chip-Seq_HEART_Mouse0.86893871

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.08533242
2MP0004859_abnormal_synaptic_plasticity4.88645702
3MP0004270_analgesia4.06955980
4MP0003635_abnormal_synaptic_transmissio3.37909708
5MP0009745_abnormal_behavioral_response2.99647294
6MP0009046_muscle_twitch2.99012211
7* MP0002064_seizures2.89341786
8MP0001486_abnormal_startle_reflex2.77872760
9MP0000920_abnormal_myelination2.74971800
10* MP0002272_abnormal_nervous_system2.71656559
11MP0002063_abnormal_learning/memory/cond2.62061891
12MP0002734_abnormal_mechanical_nocicepti2.59894413
13MP0005423_abnormal_somatic_nervous2.55776820
14MP0002572_abnormal_emotion/affect_behav2.41100096
15MP0000778_abnormal_nervous_system2.36795210
16MP0001968_abnormal_touch/_nociception2.30698919
17MP0000569_abnormal_digit_pigmentation2.16913625
18MP0004885_abnormal_endolymph2.12391021
19MP0001440_abnormal_grooming_behavior2.10777218
20MP0001529_abnormal_vocalization2.10370970
21MP0002822_catalepsy2.08834105
22MP0003329_amyloid_beta_deposits2.00574096
23MP0002735_abnormal_chemical_nociception1.96218018
24MP0002067_abnormal_sensory_capabilities1.96214428
25MP0001905_abnormal_dopamine_level1.90602217
26MP0004742_abnormal_vestibular_system1.90334568
27MP0004142_abnormal_muscle_tone1.83156156
28MP0003690_abnormal_glial_cell1.79783496
29MP0004924_abnormal_behavior1.77038157
30MP0005386_behavior/neurological_phenoty1.77038157
31MP0002733_abnormal_thermal_nociception1.73882619
32MP0002736_abnormal_nociception_after1.71436734
33MP0002184_abnormal_innervation1.70685513
34MP0001970_abnormal_pain_threshold1.70563346
35MP0008569_lethality_at_weaning1.67635057
36MP0000955_abnormal_spinal_cord1.67567597
37MP0001501_abnormal_sleep_pattern1.64333927
38MP0001485_abnormal_pinna_reflex1.64138566
39* MP0002882_abnormal_neuron_morphology1.60936420
40MP0005409_darkened_coat_color1.52652303
41MP0006276_abnormal_autonomic_nervous1.52622441
42MP0005551_abnormal_eye_electrophysiolog1.52058670
43MP0003634_abnormal_glial_cell1.52045643
44MP0001984_abnormal_olfaction1.48464854
45MP0008877_abnormal_DNA_methylation1.47224492
46* MP0002066_abnormal_motor_capabilities/c1.46638599
47* MP0002229_neurodegeneration1.46569252
48MP0002557_abnormal_social/conspecific_i1.44899867
49MP0003121_genomic_imprinting1.34742579
50MP0004811_abnormal_neuron_physiology1.33843353
51MP0004145_abnormal_muscle_electrophysio1.33720646
52MP0003890_abnormal_embryonic-extraembry1.33565522
53MP0003632_abnormal_nervous_system1.33438731
54MP0003123_paternal_imprinting1.27517256
55MP0004130_abnormal_muscle_cell1.25873859
56MP0005171_absent_coat_pigmentation1.21628865
57MP0002638_abnormal_pupillary_reflex1.20783963
58MP0005646_abnormal_pituitary_gland1.20019726
59MP0004133_heterotaxia1.19554812
60MP0002752_abnormal_somatic_nervous1.17678052
61MP0003631_nervous_system_phenotype1.17065822
62MP0003950_abnormal_plasma_membrane1.16472468
63MP0001502_abnormal_circadian_rhythm1.15977138
64MP0005645_abnormal_hypothalamus_physiol1.15611068
65MP0009780_abnormal_chondrocyte_physiolo1.12876663
66* MP0002152_abnormal_brain_morphology1.12745081
67MP0004215_abnormal_myocardial_fiber1.11599067
68MP0001963_abnormal_hearing_physiology1.11593582
69MP0001188_hyperpigmentation1.11535369
70MP0003633_abnormal_nervous_system1.10137713
71MP0000566_synostosis1.06309178
72MP0003646_muscle_fatigue1.03214498
73MP0001299_abnormal_eye_distance/1.02126039
74MP0003283_abnormal_digestive_organ1.00736067
75MP0000751_myopathy0.97803442
76MP0003787_abnormal_imprinting0.97546070
77MP0006292_abnormal_olfactory_placode0.97325123
78MP0003122_maternal_imprinting0.96213383
79MP0000462_abnormal_digestive_system0.94968504
80MP0002160_abnormal_reproductive_system0.94145223
81MP0003137_abnormal_impulse_conducting0.93331752
82MP0003119_abnormal_digestive_system0.91054704
83MP0001177_atelectasis0.90512518
84MP0003136_yellow_coat_color0.89412784
85MP0006072_abnormal_retinal_apoptosis0.89253417
86MP0004085_abnormal_heartbeat0.87111436
87MP0003879_abnormal_hair_cell0.87094809
88MP0000631_abnormal_neuroendocrine_gland0.85189502
89MP0000026_abnormal_inner_ear0.82376452
90MP0004043_abnormal_pH_regulation0.82112860
91MP0005187_abnormal_penis_morphology0.80798578
92MP0002069_abnormal_eating/drinking_beha0.78742716
93MP0000604_amyloidosis0.78736290
94MP0004858_abnormal_nervous_system0.75549696
95MP0004147_increased_porphyrin_level0.74137568
96MP0005410_abnormal_fertilization0.73722684
97MP0000747_muscle_weakness0.72915517
98MP0003938_abnormal_ear_development0.72722369
99MP0005253_abnormal_eye_physiology0.71840834
100MP0005195_abnormal_posterior_eye0.71381665
101MP0003861_abnormal_nervous_system0.70420819
102MP0002234_abnormal_pharynx_morphology0.69522257
103MP0001986_abnormal_taste_sensitivity0.68627594
104MP0008874_decreased_physiological_sensi0.68061750
105MP0002090_abnormal_vision0.66231283
106MP0002837_dystrophic_cardiac_calcinosis0.66051720
107MP0005623_abnormal_meninges_morphology0.65491991
108MP0002909_abnormal_adrenal_gland0.64892146
109MP0001943_abnormal_respiration0.63931055
110MP0000534_abnormal_ureter_morphology0.63133515
111MP0005394_taste/olfaction_phenotype0.62980041
112MP0005499_abnormal_olfactory_system0.62980041
113MP0008872_abnormal_physiological_respon0.62209474
114MP0001664_abnormal_digestion0.58513598
115MP0010386_abnormal_urinary_bladder0.56898874
116MP0010678_abnormal_skin_adnexa0.56684618
117MP0001346_abnormal_lacrimal_gland0.56301007
118MP0010769_abnormal_survival0.56282609
119MP0002082_postnatal_lethality0.55690397
120MP0010770_preweaning_lethality0.55690397
121MP0004036_abnormal_muscle_relaxation0.54917434
122MP0002102_abnormal_ear_morphology0.53273406

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.64151852
2Myokymia (HP:0002411)5.07836666
3Degeneration of the lateral corticospinal tracts (HP:0002314)4.69357882
4Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.69357882
5Neurofibrillary tangles (HP:0002185)4.51763941
6Abnormality of the corticospinal tract (HP:0002492)4.28993506
7Focal seizures (HP:0007359)4.23273326
8Atonic seizures (HP:0010819)4.14033989
9Sensory axonal neuropathy (HP:0003390)3.94742482
10Epileptic encephalopathy (HP:0200134)3.90607192
11Supranuclear gaze palsy (HP:0000605)3.88393286
12Spastic gait (HP:0002064)3.55489725
13Cerebral inclusion bodies (HP:0100314)3.53341196
14Dysmetria (HP:0001310)3.52151902
15Progressive cerebellar ataxia (HP:0002073)3.38824803
16Action tremor (HP:0002345)3.37736624
17Intention tremor (HP:0002080)3.33128978
18Hyperventilation (HP:0002883)3.31224346
19Broad-based gait (HP:0002136)3.30682967
20Akinesia (HP:0002304)3.25664776
21Gaze-evoked nystagmus (HP:0000640)3.21845958
22Termporal pattern (HP:0011008)3.15061448
23Insidious onset (HP:0003587)3.15061448
24Scanning speech (HP:0002168)3.08015701
25Absence seizures (HP:0002121)3.05060686
26Ankle clonus (HP:0011448)3.01387888
27Dialeptic seizures (HP:0011146)2.99425062
28Febrile seizures (HP:0002373)2.99354900
29Peripheral hypomyelination (HP:0007182)2.93532266
30Parakeratosis (HP:0001036)2.86761319
31Visual hallucinations (HP:0002367)2.76866302
32Protruding tongue (HP:0010808)2.71301214
33Dysdiadochokinesis (HP:0002075)2.69248881
34Pheochromocytoma (HP:0002666)2.66317292
35Generalized tonic-clonic seizures (HP:0002069)2.64204351
36Onion bulb formation (HP:0003383)2.53553957
37Alacrima (HP:0000522)2.48597262
38Thickened helices (HP:0000391)2.47106738
39Urinary bladder sphincter dysfunction (HP:0002839)2.44114215
40Truncal ataxia (HP:0002078)2.43268025
41Increased circulating renin level (HP:0000848)2.41535259
42Syncope (HP:0001279)2.40570152
43Lower limb muscle weakness (HP:0007340)2.39929666
44Progressive inability to walk (HP:0002505)2.39650268
45Drooling (HP:0002307)2.32944021
46Excessive salivation (HP:0003781)2.32944021
47Abnormality of binocular vision (HP:0011514)2.30101413
48Diplopia (HP:0000651)2.30101413
49Anxiety (HP:0000739)2.29338758
50Fetal akinesia sequence (HP:0001989)2.29101214
51Neuroendocrine neoplasm (HP:0100634)2.28331575
52Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.26785192
53Absent speech (HP:0001344)2.25650747
54Agitation (HP:0000713)2.23774910
55Papilledema (HP:0001085)2.23574385
56Retinal dysplasia (HP:0007973)2.23556998
57Abnormal eating behavior (HP:0100738)2.22294719
58Impaired vibration sensation in the lower limbs (HP:0002166)2.20974369
59Status epilepticus (HP:0002133)2.19515516
60Impaired smooth pursuit (HP:0007772)2.17442107
61Urinary urgency (HP:0000012)2.14963217
62Megalencephaly (HP:0001355)2.14807611
63Hemiparesis (HP:0001269)2.12501817
64Generalized myoclonic seizures (HP:0002123)2.12317954
65Pancreatic cysts (HP:0001737)2.07011094
66Sleep apnea (HP:0010535)2.06418320
67Nephronophthisis (HP:0000090)2.06141991
68Decreased lacrimation (HP:0000633)2.04936800
69Hepatoblastoma (HP:0002884)2.04806548
70Cerebral hypomyelination (HP:0006808)2.03727760
71Pancreatic fibrosis (HP:0100732)2.03408213
72Mutism (HP:0002300)2.01931633
73Slow saccadic eye movements (HP:0000514)2.01545981
74Abnormal ciliary motility (HP:0012262)2.00800824
75Hemiplegia (HP:0002301)2.00397389
76Amblyopia (HP:0000646)2.00374839
77Ventricular fibrillation (HP:0001663)2.00255704
78Abnormal respiratory motile cilium morphology (HP:0005938)1.97288656
79Abnormal respiratory epithelium morphology (HP:0012253)1.97288656
80Aplasia involving bones of the extremities (HP:0009825)1.96182237
81Aplasia involving bones of the upper limbs (HP:0009823)1.96182237
82Aplasia of the phalanges of the hand (HP:0009802)1.96182237
83Poor eye contact (HP:0000817)1.96134526
84Anteriorly placed anus (HP:0001545)1.96120303
85Epileptiform EEG discharges (HP:0011182)1.95522275
86Widely spaced teeth (HP:0000687)1.95405126
87Postural instability (HP:0002172)1.93763924
88Prolonged QT interval (HP:0001657)1.92378773
89Medial flaring of the eyebrow (HP:0010747)1.91649624
90Depression (HP:0000716)1.90866525
91Dynein arm defect of respiratory motile cilia (HP:0012255)1.89722048
92Absent/shortened dynein arms (HP:0200106)1.89722048
93Cutaneous finger syndactyly (HP:0010554)1.89242342
94Steppage gait (HP:0003376)1.89007729
95EEG with generalized epileptiform discharges (HP:0011198)1.87595896
96Clonus (HP:0002169)1.86169290
97Blue irides (HP:0000635)1.86038981
98Chronic hepatic failure (HP:0100626)1.85205429
99Polyphagia (HP:0002591)1.85040420
100Bowel incontinence (HP:0002607)1.84878671
101Shawl scrotum (HP:0000049)1.84819960
102Clumsiness (HP:0002312)1.84651922
103Genetic anticipation (HP:0003743)1.84213417
104Abnormal social behavior (HP:0012433)1.84039557
105Impaired social interactions (HP:0000735)1.84039557
106Sudden death (HP:0001699)1.83724053
107Morphological abnormality of the pyramidal tract (HP:0002062)1.83682166
108Abnormality of midbrain morphology (HP:0002418)1.83339780
109Molar tooth sign on MRI (HP:0002419)1.83339780
110Spastic tetraplegia (HP:0002510)1.83128754
111Vaginal atresia (HP:0000148)1.82338129
112Lissencephaly (HP:0001339)1.82125782
113True hermaphroditism (HP:0010459)1.82002463
114Partial agenesis of the corpus callosum (HP:0001338)1.81949196
115Gait imbalance (HP:0002141)1.80765404
116Limb dystonia (HP:0002451)1.80243969
117Primary atrial arrhythmia (HP:0001692)1.79975958
118Exotropia (HP:0000577)1.79724151
119Genital tract atresia (HP:0001827)1.79038738
120Metabolic alkalosis (HP:0200114)1.78621712
121Abnormal respiratory motile cilium physiology (HP:0012261)1.77201419
122Atrial fibrillation (HP:0005110)1.77017370
123Abnormal EKG (HP:0003115)1.76782795
124Bundle branch block (HP:0011710)1.76777248
125Abnormality of macular pigmentation (HP:0008002)1.75897285
126Abnormal auditory evoked potentials (HP:0006958)1.75452473
127Hypsarrhythmia (HP:0002521)1.75072544
128Hypomagnesemia (HP:0002917)1.74346377
129Congenital primary aphakia (HP:0007707)1.73983349
130Specific learning disability (HP:0001328)1.73618792
131Obstructive sleep apnea (HP:0002870)1.73319490
132Pachygyria (HP:0001302)1.73255332
133Abnormality of ocular smooth pursuit (HP:0000617)1.71921794
134Abnormality of salivation (HP:0100755)1.71751368
135Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.70937616
136Ulnar claw (HP:0001178)1.70606198
137Inability to walk (HP:0002540)1.69109580
138Incomplete penetrance (HP:0003829)1.69102911
139Central scotoma (HP:0000603)1.68856015
140Poor speech (HP:0002465)1.68441004
141Abnormality of the renal medulla (HP:0100957)1.68223823
142Abnormal large intestine physiology (HP:0012700)1.68191092
143Chorioretinal atrophy (HP:0000533)1.67502611

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.09946588
2TNIK3.59816823
3OXSR13.45756172
4EPHA43.37351224
5NTRK32.95665349
6MARK12.83746422
7PRPF4B2.47544731
8CDK192.41439811
9PAK62.36601415
10CASK2.33217740
11BCR2.25301487
12MAP3K92.09035771
13PNCK2.06746830
14FRK1.95386448
15MAP3K41.89513036
16PINK11.84703933
17WNK41.79373586
18SGK21.78054654
19NTRK11.75183772
20UHMK11.69581119
21WNK11.62267622
22NTRK21.57472304
23MAP2K71.57045153
24MINK11.55590740
25NEK61.51997660
26PKN11.49942965
27FGFR21.45188458
28ICK1.41777295
29CDK51.39862312
30MAPK131.36568918
31CAMK2B1.31695812
32AKT31.24923767
33CSNK1G21.24787961
34CSNK1G31.20246062
35EPHB11.17673165
36CSNK1A1L1.13475519
37LIMK11.12917564
38PAK31.12404327
39KSR21.09112748
40SGK2231.08495563
41SGK4941.08495563
42SGK31.08049238
43CAMK2A1.07745729
44DAPK21.06778750
45ROCK21.06324137
46CAMK2D1.06061026
47FGR1.05585315
48TYRO31.05405226
49KSR11.03500643
50PHKG21.03158540
51PHKG11.03158540
52CDK141.01311581
53PIK3CA0.96836692
54CDK180.95310121
55CDK150.95265249
56MARK20.94298754
57MET0.92874076
58MAP2K40.90509448
59CSNK1G10.86381482
60CDK11A0.83939643
61DMPK0.83153114
62PLK20.81403109
63ARAF0.80454144
64STK110.79153597
65PRKCG0.78890483
66FES0.78273990
67CAMK2G0.75757098
68GRK10.72147468
69CAMK1D0.70329898
70GRK50.69681454
71ADRBK20.69366922
72PRKCH0.68320289
73MAPKAPK50.68309175
74CAMK1G0.67620638
75CAMK40.67421203
76WNK30.67370540
77PRKCE0.65965838
78MUSK0.64551651
79RIPK40.64491882
80FYN0.62599555
81DYRK1A0.61130435
82MAP3K20.60681643
83DYRK20.59528923
84MAP3K130.59018631
85IRAK20.56377345
86SGK10.56201790
87STK380.55393445
88CAMK10.54716383
89ERBB30.54644877
90TLK10.54515546
91PRKD30.54314577
92MAPK120.54175435
93LATS20.53003792
94PDPK10.51608712
95TRIM280.51214502
96PTK2B0.50626185
97PRKCQ0.49765383
98CAMKK20.49531827
99CAMKK10.48840714
100CSNK1E0.48739440
101NME10.48519796
102PRKG10.48002759
103RPS6KA20.47123711
104BMPR20.46642674
105PRKAA10.46522309
106CLK10.44383762
107ERBB40.43745452
108MAP3K120.43716180
109ERBB20.43217284
110PBK0.42594788
111CSNK1D0.42425660
112SIK20.41739539
113BMPR1B0.41686310
114EPHB20.41036846
115TAOK30.40650477
116ROCK10.40234321
117PRKCZ0.36751889
118RET0.36732453
119MAPK100.36731856
120PRKACA0.36518824
121RPS6KA30.36380758
122OBSCN0.35917428
123MAPK150.35634751
124MAP4K20.35414574
125ACVR1B0.35300944
126PRKACB0.35282439
127INSRR0.33758866
128CSNK1A10.33576194
129GSK3B0.32773070
130DAPK10.31421919

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.43547213
2GABAergic synapse_Homo sapiens_hsa047272.62850350
3Glutamatergic synapse_Homo sapiens_hsa047242.61205921
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.60639104
5Synaptic vesicle cycle_Homo sapiens_hsa047212.53537760
6Morphine addiction_Homo sapiens_hsa050322.37827211
7Circadian entrainment_Homo sapiens_hsa047132.36213527
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.27979774
9Axon guidance_Homo sapiens_hsa043602.10796834
10Long-term potentiation_Homo sapiens_hsa047202.05408166
11Serotonergic synapse_Homo sapiens_hsa047262.04685643
12Olfactory transduction_Homo sapiens_hsa047401.96361845
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.92453424
14Dopaminergic synapse_Homo sapiens_hsa047281.90281215
15Amphetamine addiction_Homo sapiens_hsa050311.88574855
16Salivary secretion_Homo sapiens_hsa049701.86615548
17Long-term depression_Homo sapiens_hsa047301.79194976
18Taste transduction_Homo sapiens_hsa047421.69070239
19Cholinergic synapse_Homo sapiens_hsa047251.69013131
20Steroid biosynthesis_Homo sapiens_hsa001001.57030114
21Collecting duct acid secretion_Homo sapiens_hsa049661.54155132
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.52240090
23Cocaine addiction_Homo sapiens_hsa050301.49153176
24Gastric acid secretion_Homo sapiens_hsa049711.48850375
25Insulin secretion_Homo sapiens_hsa049111.48019395
26Ether lipid metabolism_Homo sapiens_hsa005651.47356777
27Cardiac muscle contraction_Homo sapiens_hsa042601.46044712
28Fatty acid elongation_Homo sapiens_hsa000621.44093228
29Renin secretion_Homo sapiens_hsa049241.38669323
30Oxidative phosphorylation_Homo sapiens_hsa001901.37660008
31Phototransduction_Homo sapiens_hsa047441.36730191
32Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.36640714
33Oxytocin signaling pathway_Homo sapiens_hsa049211.35072107
34Calcium signaling pathway_Homo sapiens_hsa040201.32664665
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.32360880
36Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.28588485
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27084482
38Aldosterone synthesis and secretion_Homo sapiens_hsa049251.23910298
39Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.21661854
40Alzheimers disease_Homo sapiens_hsa050101.18867534
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17019151
42ErbB signaling pathway_Homo sapiens_hsa040121.16430530
43Gap junction_Homo sapiens_hsa045401.12816342
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.12332219
45Vibrio cholerae infection_Homo sapiens_hsa051101.12317349
46cAMP signaling pathway_Homo sapiens_hsa040241.10681272
47Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.08756684
48GnRH signaling pathway_Homo sapiens_hsa049121.04640260
49Vascular smooth muscle contraction_Homo sapiens_hsa042701.03074949
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.97880663
51Parkinsons disease_Homo sapiens_hsa050120.92648167
52Pancreatic secretion_Homo sapiens_hsa049720.91451414
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.88604341
54Renal cell carcinoma_Homo sapiens_hsa052110.87857366
55Histidine metabolism_Homo sapiens_hsa003400.86963047
56Phosphatidylinositol signaling system_Homo sapiens_hsa040700.86948925
57Butanoate metabolism_Homo sapiens_hsa006500.85151245
58Dilated cardiomyopathy_Homo sapiens_hsa054140.81697277
59Ras signaling pathway_Homo sapiens_hsa040140.80781756
60Type II diabetes mellitus_Homo sapiens_hsa049300.79963081
61Dorso-ventral axis formation_Homo sapiens_hsa043200.79351259
62Sphingolipid metabolism_Homo sapiens_hsa006000.79090896
63Melanogenesis_Homo sapiens_hsa049160.79065579
64cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76636315
65Choline metabolism in cancer_Homo sapiens_hsa052310.76306736
66Bile secretion_Homo sapiens_hsa049760.74786769
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.73903866
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73149767
69Estrogen signaling pathway_Homo sapiens_hsa049150.71345275
70Tight junction_Homo sapiens_hsa045300.71237262
71Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69733028
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69025137
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.68941561
74Fatty acid biosynthesis_Homo sapiens_hsa000610.68591746
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68258088
76MAPK signaling pathway_Homo sapiens_hsa040100.66323354
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64621481
78Endocytosis_Homo sapiens_hsa041440.64262389
79Ovarian steroidogenesis_Homo sapiens_hsa049130.63850687
80Hippo signaling pathway_Homo sapiens_hsa043900.60256503
81Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.57351322
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57327145
83Huntingtons disease_Homo sapiens_hsa050160.55058896
84Glioma_Homo sapiens_hsa052140.54461975
85Glucagon signaling pathway_Homo sapiens_hsa049220.53744244
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53181064
87Alcoholism_Homo sapiens_hsa050340.52255675
88Wnt signaling pathway_Homo sapiens_hsa043100.51947824
89ABC transporters_Homo sapiens_hsa020100.51656838
90Thyroid hormone synthesis_Homo sapiens_hsa049180.51369395
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.49869540
92Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47369613
93Rheumatoid arthritis_Homo sapiens_hsa053230.47192102
94Sulfur metabolism_Homo sapiens_hsa009200.47036105
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46724617
96beta-Alanine metabolism_Homo sapiens_hsa004100.46658645
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46464431
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.45513147
99Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.44890718
100Rap1 signaling pathway_Homo sapiens_hsa040150.44457584
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43038996
102Hedgehog signaling pathway_Homo sapiens_hsa043400.42461648
103Oocyte meiosis_Homo sapiens_hsa041140.42240944
104Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40002043
105Tryptophan metabolism_Homo sapiens_hsa003800.39157910
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.38508438
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.38231658
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38059674
109Selenocompound metabolism_Homo sapiens_hsa004500.37999724
110Inositol phosphate metabolism_Homo sapiens_hsa005620.36171640
111Longevity regulating pathway - mammal_Homo sapiens_hsa042110.35966575
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35892461
113Basal cell carcinoma_Homo sapiens_hsa052170.35058611
114Mineral absorption_Homo sapiens_hsa049780.34875293
115Neurotrophin signaling pathway_Homo sapiens_hsa047220.34599792
116Melanoma_Homo sapiens_hsa052180.33631347
117Endometrial cancer_Homo sapiens_hsa052130.33563727
118VEGF signaling pathway_Homo sapiens_hsa043700.30638466
119Linoleic acid metabolism_Homo sapiens_hsa005910.30545346
120Circadian rhythm_Homo sapiens_hsa047100.26985584
121Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26830289
122alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26675326

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