ATP8A2

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





Description: The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.46249201
2positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.29020691
3synaptic vesicle maturation (GO:0016188)5.09978756
4postsynaptic membrane organization (GO:0001941)4.97323668
5protein localization to synapse (GO:0035418)4.88120057
6presynaptic membrane assembly (GO:0097105)4.76347420
7synaptic vesicle exocytosis (GO:0016079)4.74651752
8cellular potassium ion homeostasis (GO:0030007)4.56926421
9regulation of synaptic vesicle exocytosis (GO:2000300)4.52733308
10regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.49532263
11presynaptic membrane organization (GO:0097090)4.47624150
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.42756886
13glutamate secretion (GO:0014047)4.38470066
14regulation of rhodopsin mediated signaling pathway (GO:0022400)4.33930306
15cerebellar granule cell differentiation (GO:0021707)4.24365757
16rhodopsin mediated signaling pathway (GO:0016056)4.18995700
17vocalization behavior (GO:0071625)4.17681611
18auditory behavior (GO:0031223)4.07090968
19regulation of synaptic vesicle transport (GO:1902803)4.05811947
20positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.98678631
21layer formation in cerebral cortex (GO:0021819)3.95920801
22neuron cell-cell adhesion (GO:0007158)3.95225406
23positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.95127532
24regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.88989743
25cerebellar Purkinje cell differentiation (GO:0021702)3.84869900
26locomotory exploration behavior (GO:0035641)3.83592472
27membrane depolarization during action potential (GO:0086010)3.82182761
28neuronal ion channel clustering (GO:0045161)3.79892580
29synaptic vesicle docking involved in exocytosis (GO:0016081)3.74183294
30regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.73466147
31neurotransmitter secretion (GO:0007269)3.65636209
32retinal cone cell development (GO:0046549)3.64425136
33regulation of glutamate receptor signaling pathway (GO:1900449)3.64220916
34sodium ion export (GO:0071436)3.61958449
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59464474
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.54679295
37pyrimidine nucleobase catabolic process (GO:0006208)3.54171055
38proline transport (GO:0015824)3.52682987
39neuronal action potential propagation (GO:0019227)3.51939622
40cell migration in hindbrain (GO:0021535)3.48205437
41membrane hyperpolarization (GO:0060081)3.45710149
42regulation of synapse maturation (GO:0090128)3.44889310
43response to pheromone (GO:0019236)3.43419948
44negative regulation of synaptic transmission, GABAergic (GO:0032229)3.42792836
45synaptic vesicle endocytosis (GO:0048488)3.42745338
46positive regulation of dendritic spine morphogenesis (GO:0061003)3.41862738
47neuromuscular synaptic transmission (GO:0007274)3.41596231
48positive regulation of dendritic spine development (GO:0060999)3.40504399
49positive regulation of potassium ion transmembrane transport (GO:1901381)3.37124340
50cell differentiation in hindbrain (GO:0021533)3.36098097
51retinal rod cell development (GO:0046548)3.34828620
52regulation of vesicle fusion (GO:0031338)3.32719898
53neuron-neuron synaptic transmission (GO:0007270)3.30825387
54serotonin metabolic process (GO:0042428)3.29556402
55mechanosensory behavior (GO:0007638)3.28602236
56mating behavior (GO:0007617)3.27146185
57axon cargo transport (GO:0008088)3.26858513
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.26795576
59synaptic transmission, glutamatergic (GO:0035249)3.25576165
60central nervous system projection neuron axonogenesis (GO:0021952)3.23614669
61exploration behavior (GO:0035640)3.23107098
62potassium ion homeostasis (GO:0055075)3.21916972
63ionotropic glutamate receptor signaling pathway (GO:0035235)3.21885748
64regulation of synapse structural plasticity (GO:0051823)3.21381689
65neurotransmitter transport (GO:0006836)3.21182794
66regulation of neuronal synaptic plasticity (GO:0048168)3.20375521
67adult walking behavior (GO:0007628)3.17467167
68* detection of light stimulus involved in visual perception (GO:0050908)3.15842818
69* detection of light stimulus involved in sensory perception (GO:0050962)3.15842818
70neuronal action potential (GO:0019228)3.15086863
71striatum development (GO:0021756)3.14894199
72regulation of neurotransmitter secretion (GO:0046928)3.14519827
73dendrite morphogenesis (GO:0048813)3.12958317
74positive regulation of membrane potential (GO:0045838)3.11973505
75activation of protein kinase A activity (GO:0034199)3.11909842
76photoreceptor cell development (GO:0042461)3.11257168
77neuron recognition (GO:0008038)3.11244392
78vesicle transport along microtubule (GO:0047496)3.10159144
79mitochondrion transport along microtubule (GO:0047497)3.09025743
80establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.09025743
81L-amino acid import (GO:0043092)3.08610988
82* neurofilament cytoskeleton organization (GO:0060052)3.08131010
83positive regulation of synapse maturation (GO:0090129)3.07943427
84cell communication by electrical coupling (GO:0010644)3.07658126
85regulation of dendritic spine morphogenesis (GO:0061001)3.07022101
86glutamate receptor signaling pathway (GO:0007215)3.06906929
87calcium ion-dependent exocytosis (GO:0017156)3.06094199
88organelle transport along microtubule (GO:0072384)3.02922655
89membrane depolarization (GO:0051899)3.01536314
90establishment of mitochondrion localization (GO:0051654)3.01340680
91regulation of postsynaptic membrane potential (GO:0060078)3.00637524
92eye photoreceptor cell development (GO:0042462)3.00179905
93regulation of long-term neuronal synaptic plasticity (GO:0048169)2.99388897
94adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.99003711
95innervation (GO:0060384)2.98636791
96membrane repolarization (GO:0086009)2.97304631
97nucleobase catabolic process (GO:0046113)2.96897945
98startle response (GO:0001964)2.96724677
99axonal fasciculation (GO:0007413)2.96399718
100photoreceptor cell maintenance (GO:0045494)2.92077096
101regulation of excitatory postsynaptic membrane potential (GO:0060079)2.91288974
102detection of calcium ion (GO:0005513)2.91033570
103primary amino compound metabolic process (GO:1901160)2.90906568
104regulation of synaptic plasticity (GO:0048167)2.90814203
105regulation of voltage-gated calcium channel activity (GO:1901385)2.90779412
106neurotransmitter-gated ion channel clustering (GO:0072578)2.89778599
107* response to auditory stimulus (GO:0010996)2.89588843
108negative regulation of microtubule polymerization (GO:0031115)2.89183803
109* neuromuscular process (GO:0050905)2.88121139
110regulation of dendritic spine development (GO:0060998)2.87600886
111synapse organization (GO:0050808)2.87575367
112neuromuscular process controlling balance (GO:0050885)2.86914629
113positive regulation of potassium ion transport (GO:0043268)2.86569270
114regulation of neurotransmitter transport (GO:0051588)2.86233987
115gamma-aminobutyric acid transport (GO:0015812)2.85619425
116long-term memory (GO:0007616)2.84382864
117negative regulation of dendrite morphogenesis (GO:0050774)2.83415586
118dendritic spine morphogenesis (GO:0060997)2.83246447
119cell communication involved in cardiac conduction (GO:0086065)2.82897571
120positive regulation of synapse assembly (GO:0051965)2.82050991
121adult behavior (GO:0030534)2.81411599
122synapse assembly (GO:0007416)2.80454523
123regulation of synaptic transmission, glutamatergic (GO:0051966)2.80180514
124dopamine receptor signaling pathway (GO:0007212)2.79625335
125regulation of synaptic transmission, dopaminergic (GO:0032225)2.78545849
126regulation of neurotransmitter levels (GO:0001505)2.77783149
127negative regulation of dendrite development (GO:2000171)2.76238475
128G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.76195076
129transmission of nerve impulse (GO:0019226)2.75880848
130synaptic transmission (GO:0007268)2.74771803
131gamma-aminobutyric acid signaling pathway (GO:0007214)2.74273950
132positive regulation of neurotransmitter transport (GO:0051590)2.74102853

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.13496364
2GBX2_23144817_ChIP-Seq_PC3_Human3.78010636
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.70501802
4REST_21632747_ChIP-Seq_MESCs_Mouse2.65968211
5DROSHA_22980978_ChIP-Seq_HELA_Human2.54608751
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.53269325
7ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.52302740
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.48212642
9SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.35418644
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.26721820
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.23967112
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.22273027
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.22273027
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.20919367
15REST_18959480_ChIP-ChIP_MESCs_Mouse2.15311668
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.11807945
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.11089470
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.10899065
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10506883
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.09107335
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.07869043
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.00989773
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.98286758
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.90155322
25TAF15_26573619_Chip-Seq_HEK293_Human1.85802678
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.77655631
27* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.75222117
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.73065612
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69314004
30ZNF274_21170338_ChIP-Seq_K562_Hela1.69074343
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.68351819
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.67012275
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.60940761
34* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.60448898
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60149814
36TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49100247
37AR_21572438_ChIP-Seq_LNCaP_Human1.48890596
38IKZF1_21737484_ChIP-ChIP_HCT116_Human1.46866445
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.45853818
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44874234
41BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.43993293
42P300_19829295_ChIP-Seq_ESCs_Human1.38824539
43VDR_22108803_ChIP-Seq_LS180_Human1.38773358
44BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36690098
45MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.35280764
46* STAT3_23295773_ChIP-Seq_U87_Human1.35140403
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34019520
48IGF1R_20145208_ChIP-Seq_DFB_Human1.31303044
49FUS_26573619_Chip-Seq_HEK293_Human1.29308540
50NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28286110
51RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27897029
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.26811713
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.22480982
54AR_25329375_ChIP-Seq_VCAP_Human1.20933212
55* SOX2_21211035_ChIP-Seq_LN229_Gbm1.20521821
56TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19387489
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.18786005
58CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.17528952
59* AR_19668381_ChIP-Seq_PC3_Human1.17063432
60* TCF4_23295773_ChIP-Seq_U87_Human1.15749643
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15736930
62RNF2_27304074_Chip-Seq_NSC_Mouse1.15723481
63P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14530024
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12843861
65* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.12807498
66PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.11016554
67RING1B_27294783_Chip-Seq_ESCs_Mouse1.10201125
68CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.09544283
69MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09449577
70TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09219263
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09219263
72* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08959806
73CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08750775
74ERG_21242973_ChIP-ChIP_JURKAT_Human1.08112760
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.07891859
76SMAD3_21741376_ChIP-Seq_ESCs_Human1.06412416
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06120626
78WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05606373
79POU3F2_20337985_ChIP-ChIP_501MEL_Human1.04912262
80* ARNT_22903824_ChIP-Seq_MCF-7_Human1.04271109
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04175974
82VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03362349
83* AHR_22903824_ChIP-Seq_MCF-7_Human1.03087145
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.00729455
85TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00219305
86KDM2B_26808549_Chip-Seq_K562_Human0.98469547
87KDM2B_26808549_Chip-Seq_REH_Human0.98333986
88* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98087473
89YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97640554
90* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96785672
91* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.96151237
92* SMAD4_21741376_ChIP-Seq_HESCs_Human0.95794795
93GATA1_26923725_Chip-Seq_HPCs_Mouse0.95753780
94* SOX9_26525672_Chip-Seq_HEART_Mouse0.95656627
95PIAS1_25552417_ChIP-Seq_VCAP_Human0.95523178
96* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95353970
97* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95311361
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95028862
99CBP_20019798_ChIP-Seq_JUKART_Human0.95028862
100* RUNX2_22187159_ChIP-Seq_PCA_Human0.94620387
101KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93973211
102STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93655858
103UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93062470
104SMAD3_21741376_ChIP-Seq_HESCs_Human0.92398340
105NANOG_18555785_Chip-Seq_ESCs_Mouse0.92012990
106* CTCF_27219007_Chip-Seq_Bcells_Human0.91991882
107TET1_21490601_ChIP-Seq_MESCs_Mouse0.91324260
108BCAT_22108803_ChIP-Seq_LS180_Human0.89635601
109RING1B_27294783_Chip-Seq_NPCs_Mouse0.88434150
110RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88197031
111RBPJ_22232070_ChIP-Seq_NCS_Mouse0.87180563

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.62595166
2MP0003880_abnormal_central_pattern3.82007398
3MP0004270_analgesia3.81761343
4MP0005551_abnormal_eye_electrophysiolog3.45851173
5MP0001968_abnormal_touch/_nociception3.41465786
6MP0003635_abnormal_synaptic_transmissio3.36492173
7MP0005423_abnormal_somatic_nervous3.21358565
8MP0002735_abnormal_chemical_nociception2.98768514
9MP0009046_muscle_twitch2.93166179
10MP0002734_abnormal_mechanical_nocicepti2.74199714
11MP0002736_abnormal_nociception_after2.69887905
12MP0002063_abnormal_learning/memory/cond2.66363756
13MP0002064_seizures2.64564754
14MP0009745_abnormal_behavioral_response2.63139173
15MP0006276_abnormal_autonomic_nervous2.58173287
16MP0002272_abnormal_nervous_system2.48827383
17MP0001984_abnormal_olfaction2.46394882
18MP0002572_abnormal_emotion/affect_behav2.35922473
19MP0002733_abnormal_thermal_nociception2.33030944
20MP0004858_abnormal_nervous_system2.32030994
21MP0001486_abnormal_startle_reflex2.28421096
22MP0005253_abnormal_eye_physiology2.28139847
23MP0003011_delayed_dark_adaptation2.23221679
24MP0006072_abnormal_retinal_apoptosis2.14899896
25MP0001970_abnormal_pain_threshold2.13712599
26MP0002067_abnormal_sensory_capabilities2.08227349
27MP0002184_abnormal_innervation2.04023327
28MP0001440_abnormal_grooming_behavior1.86489466
29MP0002229_neurodegeneration1.83245265
30MP0000778_abnormal_nervous_system1.80649070
31MP0001501_abnormal_sleep_pattern1.75959965
32MP0001986_abnormal_taste_sensitivity1.71574848
33MP0004811_abnormal_neuron_physiology1.71557186
34MP0002882_abnormal_neuron_morphology1.71092106
35MP0002557_abnormal_social/conspecific_i1.61894185
36MP0005645_abnormal_hypothalamus_physiol1.60886342
37MP0005386_behavior/neurological_phenoty1.60711857
38MP0004924_abnormal_behavior1.60711857
39MP0003329_amyloid_beta_deposits1.59325411
40MP0005410_abnormal_fertilization1.59088079
41MP0008569_lethality_at_weaning1.55808836
42MP0003879_abnormal_hair_cell1.54346471
43MP0000569_abnormal_digit_pigmentation1.53339398
44MP0000955_abnormal_spinal_cord1.52047960
45MP0002822_catalepsy1.39657921
46MP0001502_abnormal_circadian_rhythm1.39334107
47MP0008877_abnormal_DNA_methylation1.38969401
48MP0002909_abnormal_adrenal_gland1.38552487
49MP0002752_abnormal_somatic_nervous1.35981022
50MP0010386_abnormal_urinary_bladder1.33594730
51MP0003123_paternal_imprinting1.33299192
52MP0004145_abnormal_muscle_electrophysio1.32881817
53MP0001177_atelectasis1.32072030
54MP0002090_abnormal_vision1.30871037
55MP0003121_genomic_imprinting1.30129655
56MP0004142_abnormal_muscle_tone1.28896051
57MP0003122_maternal_imprinting1.28494841
58MP0002066_abnormal_motor_capabilities/c1.26833540
59MP0000751_myopathy1.26810230
60MP0005195_abnormal_posterior_eye1.24526096
61MP0005646_abnormal_pituitary_gland1.16497751
62MP0003633_abnormal_nervous_system1.16208955
63MP0001529_abnormal_vocalization1.15077713
64MP0009780_abnormal_chondrocyte_physiolo1.14184675
65MP0004133_heterotaxia1.11230862
66MP0003787_abnormal_imprinting1.08310816
67MP0002638_abnormal_pupillary_reflex1.07754912
68MP0001905_abnormal_dopamine_level1.06040949
69MP0004233_abnormal_muscle_weight1.05409247
70MP0003634_abnormal_glial_cell1.05252655
71MP0003183_abnormal_peptide_metabolism1.01317818
72MP0005499_abnormal_olfactory_system1.01301974
73MP0005394_taste/olfaction_phenotype1.01301974
74MP0002152_abnormal_brain_morphology0.99616057
75MP0000566_synostosis0.99195859
76MP0001963_abnormal_hearing_physiology0.98041459
77MP0003045_fibrosis0.96827517
78MP0003631_nervous_system_phenotype0.96091501
79MP0002653_abnormal_ependyma_morphology0.94547021
80MP0003890_abnormal_embryonic-extraembry0.93418455
81MP0003861_abnormal_nervous_system0.90392185
82MP0004885_abnormal_endolymph0.89426173
83MP0004085_abnormal_heartbeat0.88364138
84MP0001324_abnormal_eye_pigmentation0.86000390
85MP0004215_abnormal_myocardial_fiber0.84728100
86MP0002837_dystrophic_cardiac_calcinosis0.83761767
87MP0004742_abnormal_vestibular_system0.82616822
88MP0003137_abnormal_impulse_conducting0.80314215
89MP0001299_abnormal_eye_distance/0.78943645
90MP0000631_abnormal_neuroendocrine_gland0.78454741
91MP0008872_abnormal_physiological_respon0.77901950
92MP0001348_abnormal_lacrimal_gland0.77463998
93MP0003698_abnormal_male_reproductive0.77241907
94MP0003950_abnormal_plasma_membrane0.77024594
95MP0005391_vision/eye_phenotype0.76421731
96MP0000604_amyloidosis0.74754608
97MP0002069_abnormal_eating/drinking_beha0.74394440
98MP0008874_decreased_physiological_sensi0.74218085
99MP0003172_abnormal_lysosome_physiology0.71945546
100MP0006292_abnormal_olfactory_placode0.71189956
101MP0004147_increased_porphyrin_level0.71123477
102MP0004130_abnormal_muscle_cell0.70835949
103MP0002082_postnatal_lethality0.70202573
104MP0010770_preweaning_lethality0.70202573
105MP0008961_abnormal_basal_metabolism0.69319779
106MP0010769_abnormal_survival0.68419330
107MP0003690_abnormal_glial_cell0.68204530
108MP0000026_abnormal_inner_ear0.67845667
109MP0005535_abnormal_body_temperature0.67228003
110MP0000920_abnormal_myelination0.65808977
111MP0002751_abnormal_autonomic_nervous0.65414702
112MP0010768_mortality/aging0.65363137
113MP0003119_abnormal_digestive_system0.65098957
114MP0005187_abnormal_penis_morphology0.62929251
115MP0001485_abnormal_pinna_reflex0.62050044
116MP0000579_abnormal_nail_morphology0.60852205
117MP0001664_abnormal_digestion0.60398376
118MP0001943_abnormal_respiration0.59644450
119MP0003632_abnormal_nervous_system0.58960084
120MP0001188_hyperpigmentation0.58600519
121MP0002102_abnormal_ear_morphology0.58443077
122MP0002081_perinatal_lethality0.57579141
123MP0003938_abnormal_ear_development0.56833030
124MP0003646_muscle_fatigue0.56430986

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)6.06260363
2Myokymia (HP:0002411)5.29912972
3Focal motor seizures (HP:0011153)5.14511925
4Bony spicule pigmentary retinopathy (HP:0007737)5.05580295
5Central scotoma (HP:0000603)4.76856500
6Focal seizures (HP:0007359)4.61260301
7Abnormality of macular pigmentation (HP:0008002)4.27374130
8Febrile seizures (HP:0002373)4.13984839
9Abnormal rod and cone electroretinograms (HP:0008323)4.11822703
10Diplopia (HP:0000651)4.10583263
11Abnormality of binocular vision (HP:0011514)4.10583263
12Absent rod-and cone-mediated responses on ERG (HP:0007688)3.95792074
13Progressive cerebellar ataxia (HP:0002073)3.92975217
14Atonic seizures (HP:0010819)3.87279887
15Absence seizures (HP:0002121)3.80759330
16Hyperventilation (HP:0002883)3.76044151
17Visual hallucinations (HP:0002367)3.73017047
18Epileptic encephalopathy (HP:0200134)3.64138163
19Supranuclear gaze palsy (HP:0000605)3.64120624
20Action tremor (HP:0002345)3.59702430
21Scotoma (HP:0000575)3.52323371
22Dyschromatopsia (HP:0007641)3.51850856
23Dialeptic seizures (HP:0011146)3.28561426
24Decreased central vision (HP:0007663)3.26779810
25Mutism (HP:0002300)3.20637366
26Ulnar claw (HP:0001178)3.20470031
27Generalized tonic-clonic seizures (HP:0002069)3.19646798
28Pigmentary retinal degeneration (HP:0001146)3.06919057
29Pheochromocytoma (HP:0002666)3.06871408
30Ankle clonus (HP:0011448)2.97832555
31Hemiplegia (HP:0002301)2.87725518
32Neuroendocrine neoplasm (HP:0100634)2.84962772
33Status epilepticus (HP:0002133)2.78099279
34Termporal pattern (HP:0011008)2.77162425
35Insidious onset (HP:0003587)2.77162425
36Urinary bladder sphincter dysfunction (HP:0002839)2.77157358
37Type II diabetes mellitus (HP:0005978)2.75973536
38Attenuation of retinal blood vessels (HP:0007843)2.75437538
39Gait imbalance (HP:0002141)2.73482950
40Keratoconus (HP:0000563)2.70874303
41Increased corneal curvature (HP:0100692)2.70874303
42Hypsarrhythmia (HP:0002521)2.64906075
43Choroideremia (HP:0001139)2.64778067
44Torticollis (HP:0000473)2.62134244
45Chorioretinal atrophy (HP:0000533)2.61920631
46* Truncal ataxia (HP:0002078)2.59530686
47Genetic anticipation (HP:0003743)2.56722523
48Gaze-evoked nystagmus (HP:0000640)2.56432746
49Postural instability (HP:0002172)2.55557362
50Amyotrophic lateral sclerosis (HP:0007354)2.52331528
51Depression (HP:0000716)2.51304176
52Ventricular fibrillation (HP:0001663)2.49270300
53Dysdiadochokinesis (HP:0002075)2.48554831
54Pendular nystagmus (HP:0012043)2.46643681
55Spastic gait (HP:0002064)2.42579721
56Urinary urgency (HP:0000012)2.42179867
57Medial flaring of the eyebrow (HP:0010747)2.38812781
58Photophobia (HP:0000613)2.38722937
59Abolished electroretinogram (ERG) (HP:0000550)2.37644028
60Abnormality of the corticospinal tract (HP:0002492)2.36285882
61Failure to thrive in infancy (HP:0001531)2.34765168
62Congenital primary aphakia (HP:0007707)2.33843655
63Prolonged QT interval (HP:0001657)2.31405412
64Retinitis pigmentosa (HP:0000510)2.29905703
65Retinal atrophy (HP:0001105)2.29901280
66Broad-based gait (HP:0002136)2.28842889
67Akinesia (HP:0002304)2.27631955
68Protruding tongue (HP:0010808)2.27291599
69Abnormal eating behavior (HP:0100738)2.26802473
70Absent speech (HP:0001344)2.25672656
71Poor eye contact (HP:0000817)2.23768299
72Dysmetria (HP:0001310)2.22591188
73Excessive salivation (HP:0003781)2.21854242
74Drooling (HP:0002307)2.21854242
75Sleep apnea (HP:0010535)2.20411492
76Neurofibrillary tangles (HP:0002185)2.19337517
77Impaired vibration sensation in the lower limbs (HP:0002166)2.18919978
78Severe visual impairment (HP:0001141)2.17840006
79Limb dystonia (HP:0002451)2.17775286
80Intention tremor (HP:0002080)2.16826560
81Abnormality of the lower motor neuron (HP:0002366)2.16272297
82Morphological abnormality of the pyramidal tract (HP:0002062)2.15326268
83Abnormality of the labia minora (HP:0012880)2.14666623
84Abnormal EKG (HP:0003115)2.12939802
85Cone-rod dystrophy (HP:0000548)2.10231076
86Progressive inability to walk (HP:0002505)2.08326377
87Nephrogenic diabetes insipidus (HP:0009806)2.08191157
88Syncope (HP:0001279)2.06871419
89Absent/shortened dynein arms (HP:0200106)2.06865953
90Dynein arm defect of respiratory motile cilia (HP:0012255)2.06865953
91Specific learning disability (HP:0001328)2.06567325
92Lower limb muscle weakness (HP:0007340)2.06548631
93Abnormal social behavior (HP:0012433)2.05821468
94Impaired social interactions (HP:0000735)2.05821468
95Anxiety (HP:0000739)2.05745503
96Focal dystonia (HP:0004373)2.05542543
97Polyphagia (HP:0002591)2.05075535
98Macular degeneration (HP:0000608)2.04368065
99Papilledema (HP:0001085)2.03952495
100Constricted visual fields (HP:0001133)2.02566756
101Scanning speech (HP:0002168)2.01497509
102Incomplete penetrance (HP:0003829)2.01463081
103Obstructive sleep apnea (HP:0002870)2.01448671
104Impaired vibratory sensation (HP:0002495)2.00576475
105Amblyopia (HP:0000646)1.99586683
106Aplasia/Hypoplasia of the brainstem (HP:0007362)1.99446970
107Hypoplasia of the brainstem (HP:0002365)1.99446970
108Cerebral hypomyelination (HP:0006808)1.98166639
109Stereotypic behavior (HP:0000733)1.97930711
110Hypoventilation (HP:0002791)1.97689684
111Impaired smooth pursuit (HP:0007772)1.97422607
112Decreased electroretinogram (ERG) amplitude (HP:0000654)1.95990158
113Hepatoblastoma (HP:0002884)1.94887665
114EEG with generalized epileptiform discharges (HP:0011198)1.94288440
115Epileptiform EEG discharges (HP:0011182)1.94208837
116Genital tract atresia (HP:0001827)1.93781988
117Hemiparesis (HP:0001269)1.92577413
118Fetal akinesia sequence (HP:0001989)1.90854149
119Aplasia/Hypoplasia of the sternum (HP:0006714)1.90639687
120Hammertoe (HP:0001765)1.90446697
121Vaginal atresia (HP:0000148)1.90268426
122Exotropia (HP:0000577)1.87799827
123Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.87301071
124Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.86895702
125Degeneration of the lateral corticospinal tracts (HP:0002314)1.86895702
126Abnormality of ocular smooth pursuit (HP:0000617)1.86669059
127Bradykinesia (HP:0002067)1.86377005
128Megalencephaly (HP:0001355)1.85899480
129Agitation (HP:0000713)1.85173307
130Cutaneous finger syndactyly (HP:0010554)1.82704625
131Craniofacial dystonia (HP:0012179)1.82151671
132Inappropriate behavior (HP:0000719)1.79393070
133Abnormality of salivation (HP:0100755)1.76544973
134Spastic tetraplegia (HP:0002510)1.76269021
135Optic nerve hypoplasia (HP:0000609)1.68439345
136Cerebral inclusion bodies (HP:0100314)1.67486513
137Clonus (HP:0002169)1.59964346
138Cutaneous syndactyly (HP:0012725)1.58372372
139Volvulus (HP:0002580)1.57758269
140Annular pancreas (HP:0001734)1.54677142
141Hypoplasia of the corpus callosum (HP:0002079)1.54123655
142Spastic tetraparesis (HP:0001285)1.52265803
143Lissencephaly (HP:0001339)1.50783934
144Intellectual disability, severe (HP:0010864)1.49829377
145Dysmetric saccades (HP:0000641)1.48333571
146Autism (HP:0000717)1.48075541
147Oligodactyly (hands) (HP:0001180)1.47610511
148Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.47309329
149Gastroesophageal reflux (HP:0002020)1.46692410
150Myotonia (HP:0002486)1.46228029

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.21659154
2MARK13.89350080
3NTRK33.86675360
4MINK13.09512996
5MAP3K42.97063229
6LMTK22.58201675
7MAP2K72.37879059
8MAP3K122.14117140
9NTRK22.11454363
10PAK62.11158600
11EPHA41.93903116
12PHKG21.84799498
13PHKG11.84799498
14MAP2K41.84400382
15NTRK11.77687374
16CAMKK11.72614103
17INSRR1.71742168
18MAPK131.70121362
19PRKD31.65294252
20KSR21.56299507
21DYRK21.47775196
22CAMKK21.44744336
23STK381.39237279
24CDK51.35880430
25GRK51.33336318
26PNCK1.32848983
27ARAF1.30544180
28CASK1.28624049
29CAMK1G1.25686382
30DAPK21.25587217
31TNIK1.22948872
32RIPK41.17981867
33SIK21.17534384
34LATS21.14945172
35KSR11.11914330
36SGK2231.08725244
37SGK4941.08725244
38RET1.07399942
39ICK1.03770158
40MAP3K21.03453757
41FRK1.02581603
42WNK11.02269707
43TAOK10.97888580
44RIPK10.95894425
45UHMK10.93085789
46SIK30.91479506
47TYRO30.90663143
48PLK20.86859562
49PRKCG0.86223129
50SGK20.85704115
51GRK70.84853335
52CAMK2A0.82758787
53CSNK1G20.82631150
54PRKCH0.80703142
55OXSR10.79887853
56PINK10.79677845
57GRK10.78013851
58NEK10.76711972
59FGFR20.74397194
60STK390.73353123
61CDK180.72564202
62FES0.71822832
63PKN10.71541339
64IRAK20.69899164
65CDK140.69353203
66CAMK10.67955003
67CDK150.67721224
68PRPF4B0.67014535
69STK110.66582188
70LIMK10.66022055
71WNK30.65363594
72PAK30.64854730
73PRKCZ0.64459027
74WNK40.64005206
75RPS6KA20.62897705
76MARK20.62202191
77SGK30.60170200
78CDK11A0.59180220
79MAP4K20.58512373
80CDK190.57801292
81MAPKAPK30.57592293
82PDK30.56907850
83PDK40.56907850
84CAMK1D0.56607507
85CSNK1G30.55681514
86CSNK1G10.54738336
87DAPK10.54647831
88PDK10.54051646
89CDC42BPA0.53772842
90CCNB10.53666191
91ALK0.53268035
92CAMK40.52001884
93CSNK1A1L0.51751186
94MAP2K60.51674399
95MAPK150.49885286
96FER0.49208017
97PDPK10.48522942
98PRKG10.47953510
99ADRBK10.47623371
100SGK10.47327467
101CAMK2G0.46957470
102PRKAA10.46304733
103SCYL20.45012200
104ADRBK20.44892186
105CSNK1D0.44837266
106MAPK100.43947218
107CSNK1A10.42850025
108PTK2B0.42754782
109BCR0.42715201
110PRKCE0.42272512
111CSNK1E0.42072565
112RPS6KA30.41743331
113DYRK1A0.41580834
114BMPR1B0.41540126
115CAMK2D0.41166993
116MAP3K10.40905896
117MKNK20.40025611
118MAPK120.39937093
119FYN0.39851987
120PRKACA0.39810793
121CAMK2B0.38964533
122GSK3B0.38629897
123PRKCB0.34897180
124MAPK80.33778346
125PRKCA0.33755289
126NEK60.29783387
127PRKDC0.29047426
128ERBB20.28562977

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047444.93709902
2Synaptic vesicle cycle_Homo sapiens_hsa047213.51582025
3Nicotine addiction_Homo sapiens_hsa050333.08156675
4Olfactory transduction_Homo sapiens_hsa047402.91264182
5GABAergic synapse_Homo sapiens_hsa047272.50709960
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41441206
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.39776345
8Circadian entrainment_Homo sapiens_hsa047132.38770971
9Morphine addiction_Homo sapiens_hsa050322.28964171
10Glutamatergic synapse_Homo sapiens_hsa047242.18142494
11Insulin secretion_Homo sapiens_hsa049112.11729556
12Dopaminergic synapse_Homo sapiens_hsa047282.08596701
13Cholinergic synapse_Homo sapiens_hsa047251.94772096
14Salivary secretion_Homo sapiens_hsa049701.89578127
15Long-term potentiation_Homo sapiens_hsa047201.88905985
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.81631532
17Amphetamine addiction_Homo sapiens_hsa050311.81560500
18Taste transduction_Homo sapiens_hsa047421.77777894
19Serotonergic synapse_Homo sapiens_hsa047261.70026369
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57932260
21Gastric acid secretion_Homo sapiens_hsa049711.56460476
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55489107
23Renin secretion_Homo sapiens_hsa049241.54831634
24Collecting duct acid secretion_Homo sapiens_hsa049661.45542903
25Oxytocin signaling pathway_Homo sapiens_hsa049211.40883862
26Cocaine addiction_Homo sapiens_hsa050301.39305025
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38917941
28Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30091076
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.30018968
30Calcium signaling pathway_Homo sapiens_hsa040201.28340334
31GnRH signaling pathway_Homo sapiens_hsa049121.25819932
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18764847
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17739131
34Cardiac muscle contraction_Homo sapiens_hsa042601.15347639
35cAMP signaling pathway_Homo sapiens_hsa040241.10749338
36Type II diabetes mellitus_Homo sapiens_hsa049301.10490813
37Long-term depression_Homo sapiens_hsa047301.10314367
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10090078
39Gap junction_Homo sapiens_hsa045401.07135399
40Axon guidance_Homo sapiens_hsa043601.05489989
41Estrogen signaling pathway_Homo sapiens_hsa049150.98356066
42Carbohydrate digestion and absorption_Homo sapiens_hsa049730.92170967
43Vibrio cholerae infection_Homo sapiens_hsa051100.90832715
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88074626
45ErbB signaling pathway_Homo sapiens_hsa040120.87501763
46Pancreatic secretion_Homo sapiens_hsa049720.86470995
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.83307650
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.82310109
49Dorso-ventral axis formation_Homo sapiens_hsa043200.76505566
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.76097694
51Oocyte meiosis_Homo sapiens_hsa041140.75095215
52Circadian rhythm_Homo sapiens_hsa047100.73291734
53Glioma_Homo sapiens_hsa052140.72632096
54Dilated cardiomyopathy_Homo sapiens_hsa054140.69875364
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.69653422
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66691906
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66677453
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.66541024
59Melanogenesis_Homo sapiens_hsa049160.65795438
60Thyroid hormone synthesis_Homo sapiens_hsa049180.65388403
61Choline metabolism in cancer_Homo sapiens_hsa052310.65041835
62Glucagon signaling pathway_Homo sapiens_hsa049220.64817875
63Inositol phosphate metabolism_Homo sapiens_hsa005620.64776470
64MAPK signaling pathway_Homo sapiens_hsa040100.63164909
65Fatty acid biosynthesis_Homo sapiens_hsa000610.62741033
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60311687
67Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58521923
68Endocytosis_Homo sapiens_hsa041440.58022701
69Ras signaling pathway_Homo sapiens_hsa040140.57677111
70VEGF signaling pathway_Homo sapiens_hsa043700.55193439
71Endometrial cancer_Homo sapiens_hsa052130.54093563
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53020649
73Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52843175
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52521174
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52483207
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49988438
77Colorectal cancer_Homo sapiens_hsa052100.49836489
78Insulin signaling pathway_Homo sapiens_hsa049100.48837458
79mTOR signaling pathway_Homo sapiens_hsa041500.48621696
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.48052234
81Bile secretion_Homo sapiens_hsa049760.47351530
82Alcoholism_Homo sapiens_hsa050340.46967450
83Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.45923238
84Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43893448
85Rap1 signaling pathway_Homo sapiens_hsa040150.43569841
86Hippo signaling pathway_Homo sapiens_hsa043900.43088561
87Sphingolipid signaling pathway_Homo sapiens_hsa040710.42299377
88Mineral absorption_Homo sapiens_hsa049780.41086094
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40517115
90Butanoate metabolism_Homo sapiens_hsa006500.38628759
91Hedgehog signaling pathway_Homo sapiens_hsa043400.38459737
92Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37434238
93Alzheimers disease_Homo sapiens_hsa050100.36169602
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.35414057
95Prion diseases_Homo sapiens_hsa050200.35274792
96Chemokine signaling pathway_Homo sapiens_hsa040620.32978980
97Parkinsons disease_Homo sapiens_hsa050120.32654361
98SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31617786
99Oxidative phosphorylation_Homo sapiens_hsa001900.31267068
100Vitamin B6 metabolism_Homo sapiens_hsa007500.31145682
101Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.30944207
102Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30016207
103Nitrogen metabolism_Homo sapiens_hsa009100.29782939
104Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27857933
105Renal cell carcinoma_Homo sapiens_hsa052110.27782045
106Wnt signaling pathway_Homo sapiens_hsa043100.27726162
107Tight junction_Homo sapiens_hsa045300.26820166
108Maturity onset diabetes of the young_Homo sapiens_hsa049500.26023292
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.24448210
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.23752494
111Ether lipid metabolism_Homo sapiens_hsa005650.22269985
112Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.22143045
113Ovarian steroidogenesis_Homo sapiens_hsa049130.21880209
114Regulation of autophagy_Homo sapiens_hsa041400.21539357
115Basal cell carcinoma_Homo sapiens_hsa052170.21256901
116Histidine metabolism_Homo sapiens_hsa003400.18050625
117Huntingtons disease_Homo sapiens_hsa050160.15640447

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