ANK2

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: This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. 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. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.43855729
2vocalization behavior (GO:0071625)5.16501621
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.13404134
4locomotory exploration behavior (GO:0035641)4.91324532
5synaptic vesicle exocytosis (GO:0016079)4.90187473
6neuron cell-cell adhesion (GO:0007158)4.85722660
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.85547210
8synaptic vesicle maturation (GO:0016188)4.83993295
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.78558250
10ionotropic glutamate receptor signaling pathway (GO:0035235)4.66727982
11pyrimidine nucleobase catabolic process (GO:0006208)4.64931889
12protein localization to synapse (GO:0035418)4.63175252
13glutamate secretion (GO:0014047)4.57162452
14neuronal action potential propagation (GO:0019227)4.50485558
15regulation of synaptic vesicle exocytosis (GO:2000300)4.36104500
16glutamate receptor signaling pathway (GO:0007215)4.35130432
17regulation of glutamate receptor signaling pathway (GO:1900449)4.33090268
18synaptic transmission, glutamatergic (GO:0035249)4.16065715
19gamma-aminobutyric acid transport (GO:0015812)4.06485352
20neurotransmitter secretion (GO:0007269)4.01311226
21neuron-neuron synaptic transmission (GO:0007270)3.95744124
22cellular potassium ion homeostasis (GO:0030007)3.92704638
23neurotransmitter-gated ion channel clustering (GO:0072578)3.91728070
24exploration behavior (GO:0035640)3.90568736
25layer formation in cerebral cortex (GO:0021819)3.88194788
26central nervous system projection neuron axonogenesis (GO:0021952)3.87108376
27regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.85410869
28regulation of synaptic vesicle transport (GO:1902803)3.85182359
29synaptic vesicle docking involved in exocytosis (GO:0016081)3.84419648
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.82792122
31nucleobase catabolic process (GO:0046113)3.81398121
32regulation of neuronal synaptic plasticity (GO:0048168)3.81248779
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.79870231
34presynaptic membrane assembly (GO:0097105)3.78354142
35dendritic spine morphogenesis (GO:0060997)3.75198734
36G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.72387978
37neuron recognition (GO:0008038)3.69790936
38cerebellar Purkinje cell differentiation (GO:0021702)3.66913904
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.66317362
40presynaptic membrane organization (GO:0097090)3.65995546
41long-term memory (GO:0007616)3.63766932
42establishment of mitochondrion localization (GO:0051654)3.60178324
43cerebellar granule cell differentiation (GO:0021707)3.59397843
44regulation of synapse structural plasticity (GO:0051823)3.58136272
45postsynaptic membrane organization (GO:0001941)3.56738427
46transmission of nerve impulse (GO:0019226)3.55699000
47regulation of postsynaptic membrane potential (GO:0060078)3.53490923
48gamma-aminobutyric acid signaling pathway (GO:0007214)3.52104212
49central nervous system myelination (GO:0022010)3.50622990
50axon ensheathment in central nervous system (GO:0032291)3.50622990
51positive regulation of membrane potential (GO:0045838)3.48267746
52neurotransmitter transport (GO:0006836)3.46587068
53proline transport (GO:0015824)3.42529752
54axonal fasciculation (GO:0007413)3.41298907
55dendrite morphogenesis (GO:0048813)3.40907762
56negative regulation of synaptic transmission, GABAergic (GO:0032229)3.40513454
57sodium ion export (GO:0071436)3.39985509
58regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.39729626
59regulation of synaptic transmission, glutamatergic (GO:0051966)3.32068503
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.31199680
61positive regulation of synapse maturation (GO:0090129)3.29769530
62auditory behavior (GO:0031223)3.28037003
63regulation of neurotransmitter secretion (GO:0046928)3.23353781
64membrane hyperpolarization (GO:0060081)3.23002503
65neuromuscular synaptic transmission (GO:0007274)3.22597015
66synaptic vesicle endocytosis (GO:0048488)3.21202053
67cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.19678747
68synapse assembly (GO:0007416)3.18402941
69response to auditory stimulus (GO:0010996)3.18194055
70regulation of dendritic spine morphogenesis (GO:0061001)3.17922004
71positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.17693118
72cellular sodium ion homeostasis (GO:0006883)3.16866201
73L-amino acid import (GO:0043092)3.15912874
74regulation of synapse maturation (GO:0090128)3.14421945
75amino acid import (GO:0043090)3.13906320
76regulation of neurotransmitter levels (GO:0001505)3.13807485
77regulation of synaptic plasticity (GO:0048167)3.13254100
78* membrane depolarization during action potential (GO:0086010)3.12573609
79* membrane depolarization (GO:0051899)3.11413105
80* positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.10646776
81* membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.10460662
82regulation of vesicle fusion (GO:0031338)3.08931157
83adult walking behavior (GO:0007628)3.08725067
84establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.08471042
85mitochondrion transport along microtubule (GO:0047497)3.08471042
86central nervous system neuron axonogenesis (GO:0021955)3.08041023
87long-term synaptic potentiation (GO:0060291)3.07148049
88cell communication by electrical coupling (GO:0010644)3.06386639
89neuromuscular process controlling balance (GO:0050885)3.04510008
90cell migration in hindbrain (GO:0021535)3.03862216
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.02696404
92potassium ion import (GO:0010107)3.02440769
93neuromuscular process controlling posture (GO:0050884)3.01053803
94regulation of neurotransmitter transport (GO:0051588)3.00777576
95innervation (GO:0060384)2.99586896
96membrane assembly (GO:0071709)2.99042649
97learning (GO:0007612)2.95954512
98negative regulation of cytosolic calcium ion concentration (GO:0051481)2.95854206
99positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95789165
100regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.94865931
101C4-dicarboxylate transport (GO:0015740)2.94857645
102activation of protein kinase A activity (GO:0034199)2.94534549
103mechanosensory behavior (GO:0007638)2.94345144
104positive regulation of dendritic spine development (GO:0060999)2.94299376
105glycine transport (GO:0015816)2.92751977
106cell differentiation in hindbrain (GO:0021533)2.92148401
107regulation of respiratory system process (GO:0044065)2.92032451
108positive regulation of synapse assembly (GO:0051965)2.91219820
109neuronal ion channel clustering (GO:0045161)2.90663948
110response to histamine (GO:0034776)2.90031906
111regulation of voltage-gated calcium channel activity (GO:1901385)2.87795738
112prepulse inhibition (GO:0060134)2.87554921
113synapse organization (GO:0050808)2.86575511
114synaptic transmission (GO:0007268)2.86294115
115regulation of dendritic spine development (GO:0060998)2.84709470
116mating behavior (GO:0007617)2.82453320
117startle response (GO:0001964)2.80346932
118potassium ion homeostasis (GO:0055075)2.78927450

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.74549584
2GBX2_23144817_ChIP-Seq_PC3_Human3.82684936
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.04159241
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99135366
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96043492
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62444940
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62444940
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.50915120
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50825700
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48776948
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.46661487
12REST_21632747_ChIP-Seq_MESCs_Mouse2.46289481
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42005298
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41701600
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37045380
16DROSHA_22980978_ChIP-Seq_HELA_Human2.33291781
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.30955430
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.16247005
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11944144
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.10827953
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10428761
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.05629206
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00965894
24AR_21572438_ChIP-Seq_LNCaP_Human2.00783560
25REST_18959480_ChIP-ChIP_MESCs_Mouse1.94767613
26TAF15_26573619_Chip-Seq_HEK293_Human1.89208339
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88350887
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.78405045
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75314400
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72443059
31SMAD4_21799915_ChIP-Seq_A2780_Human1.71576075
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.71273569
33* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.70174190
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66843928
35* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.63551394
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.56079036
37RBPJ_22232070_ChIP-Seq_NCS_Mouse1.54040374
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50681424
39* P300_19829295_ChIP-Seq_ESCs_Human1.49222359
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.45286342
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44109945
42EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41772704
43ZNF274_21170338_ChIP-Seq_K562_Hela1.40779792
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.40748743
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40086803
46RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39461393
47RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.35732507
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35586076
49* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35456256
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.35121062
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.34205428
52CDX2_19796622_ChIP-Seq_MESCs_Mouse1.33041697
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32892729
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.31449490
55* STAT3_23295773_ChIP-Seq_U87_Human1.31253166
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.30657551
57POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30287424
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.29610717
59AR_25329375_ChIP-Seq_VCAP_Human1.29570630
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29443018
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.28927559
62TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27604139
63IGF1R_20145208_ChIP-Seq_DFB_Human1.26363709
64RING1B_27294783_Chip-Seq_ESCs_Mouse1.23030873
65TCF4_23295773_ChIP-Seq_U87_Human1.16871061
66* AR_19668381_ChIP-Seq_PC3_Human1.16510253
67LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16138454
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.15747117
69* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15233010
70RNF2_27304074_Chip-Seq_NSC_Mouse1.14846960
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12362441
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.12229684
73* SOX9_26525672_Chip-Seq_HEART_Mouse1.11425111
74WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08672092
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08443833
76AHR_22903824_ChIP-Seq_MCF-7_Human1.07724929
77TP53_16413492_ChIP-PET_HCT116_Human1.07381695
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.07285712
79FUS_26573619_Chip-Seq_HEK293_Human1.07275831
80RING1B_27294783_Chip-Seq_NPCs_Mouse1.06664784
81RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04924040
82NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04214583
83* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03905393
84* RUNX2_22187159_ChIP-Seq_PCA_Human1.03558872
85KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03071664
86ER_23166858_ChIP-Seq_MCF-7_Human1.03011926
87STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02872304
88SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02825126
89EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.02730189
90UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02638219
91CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.02538511
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02009005
93* KDM2B_26808549_Chip-Seq_REH_Human1.01776658
94VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.01058782
95EP300_21415370_ChIP-Seq_HL-1_Mouse1.00877342
96* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00600757
97PRDM14_20953172_ChIP-Seq_ESCs_Human1.00176150
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00158254
99POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99475321
100TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99475321
101* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.98920579
102SALL1_21062744_ChIP-ChIP_HESCs_Human0.95390673
103CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95287751
104* NANOG_18555785_Chip-Seq_ESCs_Mouse0.95246595
105GATA1_26923725_Chip-Seq_HPCs_Mouse0.94705663
106VDR_22108803_ChIP-Seq_LS180_Human0.93923023
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.93688850
108* SMAD4_21741376_ChIP-Seq_HESCs_Human0.92827409
109TP53_18474530_ChIP-ChIP_U2OS_Human0.91613345
110BCAT_22108803_ChIP-Seq_LS180_Human0.90497862
111* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90226286
112DNAJC2_21179169_ChIP-ChIP_NT2_Human0.90082294
113* SMAD3_21741376_ChIP-Seq_HESCs_Human0.86424824
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85856604
115JUN_21703547_ChIP-Seq_K562_Human0.85787934

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.52434778
2MP0003880_abnormal_central_pattern4.50297252
3MP0004270_analgesia3.87050029
4MP0003635_abnormal_synaptic_transmissio3.82559986
5MP0009046_muscle_twitch3.28735243
6MP0009745_abnormal_behavioral_response3.22893536
7MP0002064_seizures3.05780471
8MP0001968_abnormal_touch/_nociception3.03717673
9MP0002063_abnormal_learning/memory/cond3.01127646
10MP0005423_abnormal_somatic_nervous3.00206549
11MP0002734_abnormal_mechanical_nocicepti2.79832004
12MP0002272_abnormal_nervous_system2.71607386
13MP0002572_abnormal_emotion/affect_behav2.69341909
14MP0001486_abnormal_startle_reflex2.64779126
15MP0002735_abnormal_chemical_nociception2.54162363
16MP0002736_abnormal_nociception_after2.36843872
17MP0001440_abnormal_grooming_behavior2.25013462
18MP0002822_catalepsy2.22614763
19MP0002067_abnormal_sensory_capabilities2.15671668
20MP0001501_abnormal_sleep_pattern2.13503543
21MP0002733_abnormal_thermal_nociception2.12158633
22MP0001970_abnormal_pain_threshold2.05606578
23MP0008569_lethality_at_weaning2.03421464
24* MP0000778_abnormal_nervous_system1.97489057
25MP0002184_abnormal_innervation1.95342810
26MP0006276_abnormal_autonomic_nervous1.89096688
27MP0004924_abnormal_behavior1.80069166
28MP0005386_behavior/neurological_phenoty1.80069166
29MP0003329_amyloid_beta_deposits1.79402475
30MP0004858_abnormal_nervous_system1.75945157
31MP0002557_abnormal_social/conspecific_i1.73253196
32MP0000955_abnormal_spinal_cord1.63594230
33MP0001984_abnormal_olfaction1.62792327
34MP0004811_abnormal_neuron_physiology1.57137146
35MP0001529_abnormal_vocalization1.56580074
36MP0004885_abnormal_endolymph1.54337935
37MP0004142_abnormal_muscle_tone1.54122366
38MP0005646_abnormal_pituitary_gland1.52458940
39* MP0002882_abnormal_neuron_morphology1.51532510
40MP0009780_abnormal_chondrocyte_physiolo1.49105331
41MP0005551_abnormal_eye_electrophysiolog1.44901397
42MP0001905_abnormal_dopamine_level1.42237567
43* MP0002066_abnormal_motor_capabilities/c1.41640049
44MP0004145_abnormal_muscle_electrophysio1.40104829
45MP0003633_abnormal_nervous_system1.34593958
46MP0001502_abnormal_circadian_rhythm1.34396785
47MP0001188_hyperpigmentation1.33732498
48MP0000920_abnormal_myelination1.28594414
49MP0002909_abnormal_adrenal_gland1.28142101
50MP0004742_abnormal_vestibular_system1.26562858
51MP0005645_abnormal_hypothalamus_physiol1.25329126
52MP0003879_abnormal_hair_cell1.23949883
53MP0002229_neurodegeneration1.22549945
54MP0003631_nervous_system_phenotype1.21271249
55MP0000751_myopathy1.18246324
56* MP0002152_abnormal_brain_morphology1.11882857
57MP0003634_abnormal_glial_cell1.11058646
58MP0003787_abnormal_imprinting1.09309357
59MP0003690_abnormal_glial_cell1.09123629
60MP0002638_abnormal_pupillary_reflex1.08254373
61MP0003122_maternal_imprinting1.03689594
62MP0003632_abnormal_nervous_system1.02786886
63MP0005409_darkened_coat_color0.98518167
64MP0003121_genomic_imprinting0.98085410
65MP0010386_abnormal_urinary_bladder0.97610580
66* MP0002752_abnormal_somatic_nervous0.97348214
67MP0004215_abnormal_myocardial_fiber0.94718336
68MP0001963_abnormal_hearing_physiology0.93402370
69MP0005187_abnormal_penis_morphology0.91423478
70MP0006072_abnormal_retinal_apoptosis0.90819433
71MP0005171_absent_coat_pigmentation0.89568045
72MP0002837_dystrophic_cardiac_calcinosis0.87228810
73MP0003123_paternal_imprinting0.86473045
74* MP0004085_abnormal_heartbeat0.84728577
75MP0001485_abnormal_pinna_reflex0.84607583
76MP0002069_abnormal_eating/drinking_beha0.83365939
77MP0002090_abnormal_vision0.82494121
78MP0000569_abnormal_digit_pigmentation0.81955223
79MP0001177_atelectasis0.81774204
80MP0001299_abnormal_eye_distance/0.81611022
81MP0000631_abnormal_neuroendocrine_gland0.79634198
82MP0005253_abnormal_eye_physiology0.78194525
83MP0002751_abnormal_autonomic_nervous0.74356693
84MP0008874_decreased_physiological_sensi0.74160154
85MP0005499_abnormal_olfactory_system0.73785137
86MP0005394_taste/olfaction_phenotype0.73785137
87MP0004130_abnormal_muscle_cell0.73288963
88* MP0003137_abnormal_impulse_conducting0.72586468
89MP0004484_altered_response_of0.69896996
90MP0000604_amyloidosis0.68829295
91MP0004043_abnormal_pH_regulation0.67270944
92MP0005535_abnormal_body_temperature0.67025294
93MP0000534_abnormal_ureter_morphology0.66273624
94* MP0008872_abnormal_physiological_respon0.65798894
95* MP0010768_mortality/aging0.63336921
96MP0001943_abnormal_respiration0.61926754
97MP0003861_abnormal_nervous_system0.61077969
98MP0000026_abnormal_inner_ear0.60126699
99MP0000749_muscle_degeneration0.59555179
100MP0002081_perinatal_lethality0.59342630
101MP0004233_abnormal_muscle_weight0.59339168
102MP0000013_abnormal_adipose_tissue0.59002002
103MP0001986_abnormal_taste_sensitivity0.58975157
104MP0005248_abnormal_Harderian_gland0.58593223
105MP0000566_synostosis0.58457509
106MP0004147_increased_porphyrin_level0.58013609
107MP0000747_muscle_weakness0.57275987
108MP0005623_abnormal_meninges_morphology0.55253242
109* MP0010769_abnormal_survival0.54740366
110MP0002234_abnormal_pharynx_morphology0.54364944
111MP0008877_abnormal_DNA_methylation0.54341148
112MP0003646_muscle_fatigue0.54129334
113* MP0002082_postnatal_lethality0.53730218
114* MP0010770_preweaning_lethality0.53730218
115MP0005620_abnormal_muscle_contractility0.52837032
116MP0003938_abnormal_ear_development0.51938364

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.11934657
2Myokymia (HP:0002411)6.20324632
3Focal seizures (HP:0007359)5.45416610
4Progressive cerebellar ataxia (HP:0002073)4.74330162
5Epileptic encephalopathy (HP:0200134)4.69532495
6Visual hallucinations (HP:0002367)4.53332945
7Atonic seizures (HP:0010819)4.38204545
8Action tremor (HP:0002345)4.36213774
9Febrile seizures (HP:0002373)4.30004312
10Absence seizures (HP:0002121)3.87633776
11Broad-based gait (HP:0002136)3.77758853
12Dialeptic seizures (HP:0011146)3.65187559
13Gaze-evoked nystagmus (HP:0000640)3.60681851
14Supranuclear gaze palsy (HP:0000605)3.59385400
15Generalized tonic-clonic seizures (HP:0002069)3.56129902
16Dysdiadochokinesis (HP:0002075)3.30397036
17Dysmetria (HP:0001310)3.22819070
18Ankle clonus (HP:0011448)3.22231071
19Hyperventilation (HP:0002883)3.21576601
20Truncal ataxia (HP:0002078)3.16373026
21Scanning speech (HP:0002168)3.02393845
22Abnormality of the corticospinal tract (HP:0002492)3.00130738
23Hemiparesis (HP:0001269)2.96029019
24Neurofibrillary tangles (HP:0002185)2.94526531
25Poor eye contact (HP:0000817)2.89673271
26Urinary bladder sphincter dysfunction (HP:0002839)2.86691777
27Genetic anticipation (HP:0003743)2.84336063
28Depression (HP:0000716)2.78832536
29Drooling (HP:0002307)2.78164740
30Excessive salivation (HP:0003781)2.78164740
31Impaired vibration sensation in the lower limbs (HP:0002166)2.77143153
32Amblyopia (HP:0000646)2.75999430
33Termporal pattern (HP:0011008)2.73538965
34Insidious onset (HP:0003587)2.73538965
35Spastic gait (HP:0002064)2.72221710
36Abnormal eating behavior (HP:0100738)2.72054208
37Diplopia (HP:0000651)2.71763678
38Abnormality of binocular vision (HP:0011514)2.71763678
39Anxiety (HP:0000739)2.69165309
40Mutism (HP:0002300)2.67952093
41Postural instability (HP:0002172)2.63953117
42Pheochromocytoma (HP:0002666)2.63946493
43Cerebral inclusion bodies (HP:0100314)2.63564317
44Impaired social interactions (HP:0000735)2.61822427
45Abnormal social behavior (HP:0012433)2.61822427
46Intention tremor (HP:0002080)2.58173205
47Limb dystonia (HP:0002451)2.56143647
48Progressive inability to walk (HP:0002505)2.46984225
49Impaired smooth pursuit (HP:0007772)2.45847790
50Hemiplegia (HP:0002301)2.42498045
51Urinary urgency (HP:0000012)2.41357049
52Absent speech (HP:0001344)2.39807434
53Epileptiform EEG discharges (HP:0011182)2.36759141
54Megalencephaly (HP:0001355)2.36205316
55Degeneration of the lateral corticospinal tracts (HP:0002314)2.34235157
56Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.34235157
57EEG with generalized epileptiform discharges (HP:0011198)2.26958643
58Neuroendocrine neoplasm (HP:0100634)2.24692075
59Lower limb muscle weakness (HP:0007340)2.23902531
60Hepatoblastoma (HP:0002884)2.20012538
61Abnormality of ocular smooth pursuit (HP:0000617)2.19098869
62Dysmetric saccades (HP:0000641)2.18913238
63Blue irides (HP:0000635)2.14863594
64Polyphagia (HP:0002591)2.14404627
65Hypsarrhythmia (HP:0002521)2.10646301
66Fetal akinesia sequence (HP:0001989)2.10243131
67Amyotrophic lateral sclerosis (HP:0007354)2.09796626
68Bradykinesia (HP:0002067)2.09013547
69Papilledema (HP:0001085)2.08712774
70Agitation (HP:0000713)2.06060469
71Morphological abnormality of the pyramidal tract (HP:0002062)2.04908111
72Torticollis (HP:0000473)2.04600461
73Stereotypic behavior (HP:0000733)2.04387836
74Aplasia involving bones of the extremities (HP:0009825)2.02911856
75Aplasia involving bones of the upper limbs (HP:0009823)2.02911856
76Aplasia of the phalanges of the hand (HP:0009802)2.02911856
77Sleep apnea (HP:0010535)2.01895388
78Inability to walk (HP:0002540)2.00576688
79Peripheral hypomyelination (HP:0007182)1.99819982
80Tetraplegia (HP:0002445)1.98749192
81Gait imbalance (HP:0002141)1.97684762
82Status epilepticus (HP:0002133)1.96186146
83Retinal dysplasia (HP:0007973)1.93693313
84Gait ataxia (HP:0002066)1.93504002
85Abnormality of salivation (HP:0100755)1.92498057
86Generalized myoclonic seizures (HP:0002123)1.92294357
87Impaired vibratory sensation (HP:0002495)1.91022746
88Obstructive sleep apnea (HP:0002870)1.90391104
89Specific learning disability (HP:0001328)1.88940018
90Spastic tetraplegia (HP:0002510)1.88564360
91Spastic tetraparesis (HP:0001285)1.88091093
92Ventricular fibrillation (HP:0001663)1.87856486
93Hypoplasia of the corpus callosum (HP:0002079)1.87440213
94Neuronal loss in central nervous system (HP:0002529)1.86863529
95Abnormality of the lower motor neuron (HP:0002366)1.86496442
96Focal dystonia (HP:0004373)1.86111003
97Clumsiness (HP:0002312)1.84219706
98Aqueductal stenosis (HP:0002410)1.84039476
99Abnormality of saccadic eye movements (HP:0000570)1.83638994
100Inappropriate behavior (HP:0000719)1.83283550
101Psychosis (HP:0000709)1.80361860
102Postural tremor (HP:0002174)1.80071466
103Protruding tongue (HP:0010808)1.79720417
104Bundle branch block (HP:0011710)1.78785487
105Incomplete penetrance (HP:0003829)1.78111825
106Clonus (HP:0002169)1.76938023
107Hypoplasia of the brainstem (HP:0002365)1.75827709
108Aplasia/Hypoplasia of the brainstem (HP:0007362)1.75827709
109Akinesia (HP:0002304)1.75062365
110Sudden death (HP:0001699)1.74646211
111Onion bulb formation (HP:0003383)1.73123709
112Cutaneous finger syndactyly (HP:0010554)1.71966876
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.71637242
114Intellectual disability, severe (HP:0010864)1.71416725
115Craniofacial dystonia (HP:0012179)1.69029463
116Split foot (HP:0001839)1.68806639
117Thickened helices (HP:0000391)1.66708946
118Difficulty running (HP:0009046)1.65889947
119Paraplegia (HP:0010550)1.64303307
120Hammertoe (HP:0001765)1.64251458
121Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.61495943
122Pachygyria (HP:0001302)1.60158526

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.16867296
2MARK13.54792625
3EPHA43.34469734
4MAP3K93.03913593
5MAP3K43.01499791
6CASK2.83278868
7MAP2K72.57547836
8MINK12.49778430
9NTRK22.38671047
10TNIK2.25444468
11PAK62.11496866
12NTRK12.06578923
13DAPK21.96114234
14PNCK1.90405321
15MAPK131.76496393
16MAP2K41.69678849
17PHKG11.67698767
18PHKG21.67698767
19CCNB11.66588108
20MAP3K121.50448876
21CDK51.48849338
22RIPK41.47528722
23PRPF4B1.43868263
24CDK191.38092782
25KSR21.37698274
26PRKD31.35396923
27CAMKK11.34385505
28PLK21.31451026
29GRK51.30981780
30OXSR11.29959048
31CAMKK21.27564620
32UHMK11.26353518
33SGK4941.23408671
34SGK2231.23408671
35KSR11.23036444
36CAMK2A1.15886344
37PRKCG1.14815854
38STK381.13240677
39STK391.08842192
40CAMK2B1.08318326
41SIK21.06938124
42WNK11.06469706
43DAPK10.97750965
44FES0.95253319
45TYRO30.94324027
46CSNK1G20.93487980
47SGK20.90799771
48LMTK20.90533809
49MUSK0.90183832
50CDK180.88087727
51CDK150.86460518
52PAK30.85874418
53CAMK10.85167889
54CDK140.84271348
55STK110.84227613
56CAMK2D0.83316075
57FRK0.82935632
58CAMK1G0.81467058
59MARK20.80917858
60DYRK1A0.80629257
61PKN10.80288115
62OBSCN0.77514898
63MAP3K20.75278649
64CDK11A0.74668390
65RET0.73791165
66SGK10.73674176
67PINK10.71653207
68PRKCH0.71438506
69PRKCE0.71433843
70LATS20.70424846
71NEK60.69267276
72ARAF0.68796796
73BCR0.68766283
74PTK2B0.67527735
75SGK30.66660003
76MAPKAPK50.66624521
77CAMK2G0.66555303
78FGR0.64516599
79FGFR20.64172439
80ROCK20.62513897
81BMPR20.62180691
82EPHA30.60554598
83MAP3K130.58981892
84GRK70.58498307
85CDC42BPA0.55464438
86CSNK1G10.55064436
87CSNK1G30.48285126
88ROCK10.48181072
89PRKCZ0.47884448
90* RPS6KA30.47817030
91PRKG10.47674299
92CSNK1D0.47443561
93FYN0.47435761
94WNK30.46616772
95PDPK10.46142871
96PDK10.43678442
97WNK40.43540880
98EPHB20.43386503
99RIPK10.43285273
100MAPK100.42406528
101CAMK40.40958984
102ERBB20.40784888
103NME10.39761204
104AKT30.39631594
105PRKACA0.39320261
106ADRBK10.38942277
107FER0.38814369
108CSNK1A1L0.38670153
109DYRK20.38492919
110MAPK120.38450282
111MAP4K20.36624822
112BMPR1B0.34105913
113MAPK40.33393331
114PRKDC0.32375342
115* GSK3B0.31592372
116CSNK1A10.31380359
117PRKACB0.30867613
118MKNK20.30767765
119CAMK1D0.29429216
120* CSNK1E0.28997195
121* PRKCB0.28918493
122ALK0.28914446

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.91710980
2Synaptic vesicle cycle_Homo sapiens_hsa047213.02757437
3GABAergic synapse_Homo sapiens_hsa047272.76572128
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.75707589
5Glutamatergic synapse_Homo sapiens_hsa047242.73200015
6Circadian entrainment_Homo sapiens_hsa047132.67811401
7Morphine addiction_Homo sapiens_hsa050322.51858640
8Olfactory transduction_Homo sapiens_hsa047402.47521309
9Long-term potentiation_Homo sapiens_hsa047202.46934743
10Amphetamine addiction_Homo sapiens_hsa050312.29148312
11Salivary secretion_Homo sapiens_hsa049702.18592643
12Dopaminergic synapse_Homo sapiens_hsa047282.10129146
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.08181002
14Insulin secretion_Homo sapiens_hsa049111.99230480
15Taste transduction_Homo sapiens_hsa047421.98174304
16Cholinergic synapse_Homo sapiens_hsa047251.88534606
17Gastric acid secretion_Homo sapiens_hsa049711.84805957
18Serotonergic synapse_Homo sapiens_hsa047261.83506253
19Long-term depression_Homo sapiens_hsa047301.82888001
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.69020415
21Cocaine addiction_Homo sapiens_hsa050301.66830170
22Renin secretion_Homo sapiens_hsa049241.65732306
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63592657
24Calcium signaling pathway_Homo sapiens_hsa040201.59552033
25Oxytocin signaling pathway_Homo sapiens_hsa049211.52613109
26Phototransduction_Homo sapiens_hsa047441.45157267
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.40660063
28Collecting duct acid secretion_Homo sapiens_hsa049661.35665413
29Gap junction_Homo sapiens_hsa045401.32079842
30GnRH signaling pathway_Homo sapiens_hsa049121.31948857
31Axon guidance_Homo sapiens_hsa043601.31309453
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29997957
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28222375
34cAMP signaling pathway_Homo sapiens_hsa040241.28182046
35Cardiac muscle contraction_Homo sapiens_hsa042601.25588486
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25333681
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24058432
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13613341
39Type II diabetes mellitus_Homo sapiens_hsa049301.12026648
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07434784
41Estrogen signaling pathway_Homo sapiens_hsa049151.02399732
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02190734
43Pancreatic secretion_Homo sapiens_hsa049720.99935936
44Melanogenesis_Homo sapiens_hsa049160.99373394
45ErbB signaling pathway_Homo sapiens_hsa040120.99030177
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.93493772
47Dorso-ventral axis formation_Homo sapiens_hsa043200.93092222
48Glioma_Homo sapiens_hsa052140.87296582
49Dilated cardiomyopathy_Homo sapiens_hsa054140.87030472
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.86176611
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.84726494
52Vibrio cholerae infection_Homo sapiens_hsa051100.83757049
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80122291
54Nitrogen metabolism_Homo sapiens_hsa009100.77160693
55Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76654802
56Thyroid hormone synthesis_Homo sapiens_hsa049180.75572147
57Choline metabolism in cancer_Homo sapiens_hsa052310.70328689
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70319334
59Vitamin B6 metabolism_Homo sapiens_hsa007500.70017730
60MAPK signaling pathway_Homo sapiens_hsa040100.68737966
61Alzheimers disease_Homo sapiens_hsa050100.64736585
62Oocyte meiosis_Homo sapiens_hsa041140.64729677
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64721261
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64680954
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.61358343
66Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60427004
67Ras signaling pathway_Homo sapiens_hsa040140.59488765
68Circadian rhythm_Homo sapiens_hsa047100.58413066
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.56449904
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56159989
71Inositol phosphate metabolism_Homo sapiens_hsa005620.53771351
72Hippo signaling pathway_Homo sapiens_hsa043900.53493606
73Tight junction_Homo sapiens_hsa045300.52123640
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51708125
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.50574401
76Alcoholism_Homo sapiens_hsa050340.50488510
77Rap1 signaling pathway_Homo sapiens_hsa040150.49896560
78Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.49278600
79Bile secretion_Homo sapiens_hsa049760.48645256
80Oxidative phosphorylation_Homo sapiens_hsa001900.48134035
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47879558
82Wnt signaling pathway_Homo sapiens_hsa043100.46869041
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.46695653
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45605196
85Glucagon signaling pathway_Homo sapiens_hsa049220.44878608
86Ovarian steroidogenesis_Homo sapiens_hsa049130.44298050
87beta-Alanine metabolism_Homo sapiens_hsa004100.43196740
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42129968
89Renal cell carcinoma_Homo sapiens_hsa052110.41862378
90Butanoate metabolism_Homo sapiens_hsa006500.40947647
91VEGF signaling pathway_Homo sapiens_hsa043700.40310416
92Fatty acid biosynthesis_Homo sapiens_hsa000610.38950441
93Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38470122
94Endocytosis_Homo sapiens_hsa041440.38332167
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36841889
96AMPK signaling pathway_Homo sapiens_hsa041520.36825833
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.36678721
98African trypanosomiasis_Homo sapiens_hsa051430.35472722
99Prion diseases_Homo sapiens_hsa050200.35343024
100Ether lipid metabolism_Homo sapiens_hsa005650.34005920
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33887273
102mTOR signaling pathway_Homo sapiens_hsa041500.33621168
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.33518655
104Parkinsons disease_Homo sapiens_hsa050120.33456220
105Insulin signaling pathway_Homo sapiens_hsa049100.32870619
106Mineral absorption_Homo sapiens_hsa049780.32823144
107Histidine metabolism_Homo sapiens_hsa003400.32628138
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32094211
109Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30068505
110Endometrial cancer_Homo sapiens_hsa052130.29090525
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28915456
112Hedgehog signaling pathway_Homo sapiens_hsa043400.28504153
113Colorectal cancer_Homo sapiens_hsa052100.27577276

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