SLC12A5

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: K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two 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)6.52688725
2synaptic vesicle maturation (GO:0016188)6.25552158
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.00647229
4locomotory exploration behavior (GO:0035641)5.96180762
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.85279663
6vocalization behavior (GO:0071625)5.64723070
7synaptic vesicle exocytosis (GO:0016079)5.43465972
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.30851444
9cerebellar granule cell differentiation (GO:0021707)5.29460291
10regulation of synaptic vesicle exocytosis (GO:2000300)5.19438669
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.19255411
12glutamate secretion (GO:0014047)5.15133115
13regulation of glutamate receptor signaling pathway (GO:1900449)4.96642538
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.93937396
15protein localization to synapse (GO:0035418)4.85765650
16regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.79790248
17neurotransmitter secretion (GO:0007269)4.70616038
18regulation of synaptic vesicle transport (GO:1902803)4.65053812
19cellular potassium ion homeostasis (GO:0030007)4.64074245
20neuronal action potential propagation (GO:0019227)4.63575642
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.57458408
22regulation of neuronal synaptic plasticity (GO:0048168)4.53507581
23exploration behavior (GO:0035640)4.52441101
24glutamate receptor signaling pathway (GO:0007215)4.45750882
25synaptic transmission, glutamatergic (GO:0035249)4.39628560
26amino acid import (GO:0043090)4.37393498
27regulation of synapse structural plasticity (GO:0051823)4.29925940
28layer formation in cerebral cortex (GO:0021819)4.23355562
29gamma-aminobutyric acid transport (GO:0015812)4.23265352
30neuron cell-cell adhesion (GO:0007158)4.21900439
31neuron-neuron synaptic transmission (GO:0007270)4.19797676
32long-term memory (GO:0007616)4.18772150
33sodium ion export (GO:0071436)4.18511554
34neurotransmitter-gated ion channel clustering (GO:0072578)4.13131946
35dendritic spine morphogenesis (GO:0060997)4.10191848
36regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.09253734
37regulation of synapse maturation (GO:0090128)4.06942807
38regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.03482485
39positive regulation of membrane potential (GO:0045838)4.01615300
40postsynaptic membrane organization (GO:0001941)4.00938726
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.96276611
42cellular sodium ion homeostasis (GO:0006883)3.94318816
43regulation of excitatory postsynaptic membrane potential (GO:0060079)3.93967955
44central nervous system myelination (GO:0022010)3.88707613
45axon ensheathment in central nervous system (GO:0032291)3.88707613
46neurotransmitter transport (GO:0006836)3.88171854
47negative regulation of dendrite morphogenesis (GO:0050774)3.87221810
48regulation of postsynaptic membrane potential (GO:0060078)3.80500636
49positive regulation of dendritic spine morphogenesis (GO:0061003)3.75066347
50neuromuscular process controlling posture (GO:0050884)3.73296813
51G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.73163980
52positive regulation of synapse maturation (GO:0090129)3.71544711
53synaptic vesicle endocytosis (GO:0048488)3.66881782
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.66464717
55proline transport (GO:0015824)3.63135028
56cerebellar Purkinje cell differentiation (GO:0021702)3.61883322
57transmission of nerve impulse (GO:0019226)3.61026561
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.60034334
59neuromuscular process controlling balance (GO:0050885)3.60021579
60regulation of synaptic plasticity (GO:0048167)3.58432232
61regulation of dendritic spine morphogenesis (GO:0061001)3.58335499
62prepulse inhibition (GO:0060134)3.57934847
63regulation of neurotransmitter levels (GO:0001505)3.56430663
64positive regulation of synaptic transmission, GABAergic (GO:0032230)3.55135760
65regulation of neurotransmitter secretion (GO:0046928)3.55121036
66glycine transport (GO:0015816)3.53979343
67activation of protein kinase A activity (GO:0034199)3.53648339
68membrane hyperpolarization (GO:0060081)3.50467239
69positive regulation of neurotransmitter transport (GO:0051590)3.50273401
70positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.49463701
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.46779236
72regulation of dendritic spine development (GO:0060998)3.44896729
73positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.44696728
74long-term synaptic potentiation (GO:0060291)3.44031690
75positive regulation of neurotransmitter secretion (GO:0001956)3.43341234
76auditory behavior (GO:0031223)3.42609663
77response to auditory stimulus (GO:0010996)3.40881493
78neurotransmitter uptake (GO:0001504)3.39408296
79cell differentiation in hindbrain (GO:0021533)3.37203484
80regulation of vesicle fusion (GO:0031338)3.35906227
81regulation of synaptic transmission (GO:0050804)3.35095744
82cell communication by electrical coupling (GO:0010644)3.34966022
83neuron recognition (GO:0008038)3.33791117
84regulation of neurotransmitter transport (GO:0051588)3.33396584
85membrane depolarization during action potential (GO:0086010)3.31602069
86acidic amino acid transport (GO:0015800)3.31122119
87positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.28748177
88response to pheromone (GO:0019236)3.28138635
89membrane depolarization (GO:0051899)3.27229598
90response to histamine (GO:0034776)3.26105339
91serotonin metabolic process (GO:0042428)3.25007330
92negative regulation of synaptic transmission, GABAergic (GO:0032229)3.24815614
93establishment of synaptic vesicle localization (GO:0097480)3.23603238
94synaptic vesicle transport (GO:0048489)3.23603238
95neuromuscular synaptic transmission (GO:0007274)3.21180883
96potassium ion homeostasis (GO:0055075)3.20431006
97L-amino acid import (GO:0043092)3.18423663
98vesicle docking involved in exocytosis (GO:0006904)3.17241761
99cytoskeletal anchoring at plasma membrane (GO:0007016)3.17222475
100mating behavior (GO:0007617)3.17092638
101regulation of voltage-gated calcium channel activity (GO:1901385)3.15863659
102neuronal ion channel clustering (GO:0045161)3.14286184
103neuromuscular process (GO:0050905)3.13143145
104behavioral response to cocaine (GO:0048148)3.11901074
105negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.11878507
106cerebellar Purkinje cell layer development (GO:0021680)3.11224517
107chemosensory behavior (GO:0007635)3.11220791
108behavioral fear response (GO:0001662)3.10992017
109behavioral defense response (GO:0002209)3.10992017
110potassium ion import (GO:0010107)3.10051221
111positive regulation of synaptic transmission (GO:0050806)3.08981712
112cell communication involved in cardiac conduction (GO:0086065)3.08600834
113positive regulation of dendritic spine development (GO:0060999)3.07842023
114innervation (GO:0060384)3.07459254
115regulation of ARF protein signal transduction (GO:0032012)3.07078515
116axonal fasciculation (GO:0007413)3.05912342
117regulation of exocytosis (GO:0017157)3.05809721
118G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.05575951
119signal release (GO:0023061)3.04986245
120vesicle transport along microtubule (GO:0047496)3.04115939
121* learning (GO:0007612)3.03876988
122dendritic spine organization (GO:0097061)3.03749972
123synapse assembly (GO:0007416)3.03491876
124detection of calcium ion (GO:0005513)3.03438496
125* synaptic transmission (GO:0007268)3.03002154
126dendrite morphogenesis (GO:0048813)3.02550257
127social behavior (GO:0035176)3.02443094
128intraspecies interaction between organisms (GO:0051703)3.02443094

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.07897551
2GBX2_23144817_ChIP-Seq_PC3_Human3.36081919
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10291598
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08680039
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05073718
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.84396772
7DROSHA_22980978_ChIP-Seq_HELA_Human2.82556978
8* RARB_27405468_Chip-Seq_BRAIN_Mouse2.78618886
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.77533916
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.77533916
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68515939
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.57158985
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56688203
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.56547957
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50982291
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.42768280
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37865090
18IKZF1_21737484_ChIP-ChIP_HCT116_Human2.36106668
19* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31370044
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.30631113
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.30309331
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.24641619
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.21468137
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.20932271
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.13987524
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.13661784
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.13313918
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95780526
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86867059
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.83202767
31AR_21572438_ChIP-Seq_LNCaP_Human1.80365501
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.66771616
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66621706
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60113965
35SMAD4_21799915_ChIP-Seq_A2780_Human1.57169655
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.47061116
37TAF15_26573619_Chip-Seq_HEK293_Human1.38207645
38* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.36264079
39RING1B_27294783_Chip-Seq_ESCs_Mouse1.35706344
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.33374392
41ZNF274_21170338_ChIP-Seq_K562_Hela1.28662023
42* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26467882
43AR_19668381_ChIP-Seq_PC3_Human1.25926684
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25035898
45* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24610981
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24316585
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.23371382
48SMAD_19615063_ChIP-ChIP_OVARY_Human1.21817166
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19385692
50WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19334767
51SMAD3_21741376_ChIP-Seq_EPCs_Human1.19019344
52P300_19829295_ChIP-Seq_ESCs_Human1.18668794
53* STAT3_23295773_ChIP-Seq_U87_Human1.18056006
54KDM2B_26808549_Chip-Seq_K562_Human1.17989875
55AR_25329375_ChIP-Seq_VCAP_Human1.17283321
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16853888
57P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16582658
58ZFP57_27257070_Chip-Seq_ESCs_Mouse1.15687142
59GATA1_26923725_Chip-Seq_HPCs_Mouse1.14206398
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13068934
61* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11742846
62RING1B_27294783_Chip-Seq_NPCs_Mouse1.10746383
63GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08366432
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06699522
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.05903259
66* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05823671
67* TCF4_23295773_ChIP-Seq_U87_Human1.03352045
68MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02955325
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02636551
70RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02441899
71WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.02340611
72ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.01104797
73CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00667468
74* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00438643
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00216517
76OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.00201516
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00102967
78PIAS1_25552417_ChIP-Seq_VCAP_Human0.99232038
79SMAD3_21741376_ChIP-Seq_HESCs_Human0.98196730
80OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97663655
81BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96939975
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96869017
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96512522
84SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.95787141
85TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95509802
86SRY_22984422_ChIP-ChIP_TESTIS_Rat0.95375140
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.93408166
88OCT4_19829295_ChIP-Seq_ESCs_Human0.93229216
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.93126039
90TP53_16413492_ChIP-PET_HCT116_Human0.92476889
91RNF2_27304074_Chip-Seq_NSC_Mouse0.91434149
92* SMAD3_21741376_ChIP-Seq_ESCs_Human0.91424597
93* ARNT_22903824_ChIP-Seq_MCF-7_Human0.90792167
94AHR_22903824_ChIP-Seq_MCF-7_Human0.90631689
95NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90245432
96ESR2_21235772_ChIP-Seq_MCF-7_Human0.89516317
97DPY_21335234_ChIP-Seq_ESCs_Mouse0.89508791
98RUNX2_22187159_ChIP-Seq_PCA_Human0.89429836
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89068130
100IGF1R_20145208_ChIP-Seq_DFB_Human0.88748297
101PRDM14_20953172_ChIP-Seq_ESCs_Human0.88022520
102* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87761882
103AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86497093
104* CTCF_27219007_Chip-Seq_Bcells_Human0.86210900
105RXR_22108803_ChIP-Seq_LS180_Human0.86076999
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85571721
107LXR_22292898_ChIP-Seq_THP-1_Human0.85195972
108* TET1_21490601_ChIP-Seq_MESCs_Mouse0.84844064
109* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84090975
110TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.83852617
111* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.83672121
112KLF4_19829295_ChIP-Seq_ESCs_Human0.82884232
113KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82749232
114CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81946918
115* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.81890267
116SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81506472
117PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.80843994
118SMC4_20622854_ChIP-Seq_HELA_Human0.78502830
119TP53_20018659_ChIP-ChIP_R1E_Mouse0.77886875
120LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75169790
121TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74560082
122POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.74560082
123ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.74514676
124PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.72644317

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.85034811
2MP0003635_abnormal_synaptic_transmissio4.41318326
3* MP0003880_abnormal_central_pattern3.85009872
4MP0004270_analgesia3.60687695
5* MP0009745_abnormal_behavioral_response3.59059443
6MP0009046_muscle_twitch3.49104601
7MP0002063_abnormal_learning/memory/cond3.43842289
8* MP0002064_seizures3.34194895
9MP0002822_catalepsy3.27366611
10MP0002572_abnormal_emotion/affect_behav2.89244031
11MP0001486_abnormal_startle_reflex2.81545834
12* MP0002272_abnormal_nervous_system2.77364266
13MP0002734_abnormal_mechanical_nocicepti2.63095503
14* MP0001968_abnormal_touch/_nociception2.57246038
15MP0001501_abnormal_sleep_pattern2.49625344
16MP0008569_lethality_at_weaning2.15501004
17MP0002736_abnormal_nociception_after2.14591855
18MP0001440_abnormal_grooming_behavior2.12657609
19* MP0005423_abnormal_somatic_nervous2.09688784
20* MP0002067_abnormal_sensory_capabilities1.99647303
21MP0002735_abnormal_chemical_nociception1.96162919
22MP0001970_abnormal_pain_threshold1.92953591
23MP0002733_abnormal_thermal_nociception1.90129776
24MP0002909_abnormal_adrenal_gland1.87904739
25MP0003329_amyloid_beta_deposits1.86842546
26MP0005551_abnormal_eye_electrophysiolog1.82339968
27MP0005386_behavior/neurological_phenoty1.82086218
28MP0004924_abnormal_behavior1.82086218
29MP0002184_abnormal_innervation1.81628495
30MP0002557_abnormal_social/conspecific_i1.78496536
31MP0009780_abnormal_chondrocyte_physiolo1.78150405
32MP0004811_abnormal_neuron_physiology1.76456855
33MP0003879_abnormal_hair_cell1.75686443
34MP0001984_abnormal_olfaction1.71752549
35MP0005646_abnormal_pituitary_gland1.71249226
36MP0004885_abnormal_endolymph1.61333077
37MP0004858_abnormal_nervous_system1.59375488
38MP0000778_abnormal_nervous_system1.55581980
39MP0000955_abnormal_spinal_cord1.54296548
40MP0002882_abnormal_neuron_morphology1.49143896
41MP0001502_abnormal_circadian_rhythm1.48948842
42MP0003123_paternal_imprinting1.48162734
43* MP0002066_abnormal_motor_capabilities/c1.45863427
44MP0003633_abnormal_nervous_system1.44602880
45MP0006276_abnormal_autonomic_nervous1.42440098
46MP0004142_abnormal_muscle_tone1.40473479
47MP0001529_abnormal_vocalization1.37931496
48MP0003787_abnormal_imprinting1.37334815
49MP0005645_abnormal_hypothalamus_physiol1.36833060
50MP0002229_neurodegeneration1.23078812
51MP0004147_increased_porphyrin_level1.22674978
52MP0003631_nervous_system_phenotype1.20704451
53MP0004145_abnormal_muscle_electrophysio1.18929680
54MP0008872_abnormal_physiological_respon1.18539816
55MP0001905_abnormal_dopamine_level1.15115241
56MP0002090_abnormal_vision1.14871863
57MP0003122_maternal_imprinting1.09281995
58* MP0002152_abnormal_brain_morphology1.07176635
59MP0003075_altered_response_to1.02913019
60MP0001348_abnormal_lacrimal_gland1.02011594
61MP0001188_hyperpigmentation1.01664020
62MP0006072_abnormal_retinal_apoptosis1.00587733
63MP0003690_abnormal_glial_cell1.00196824
64MP0004742_abnormal_vestibular_system0.98727418
65MP0008877_abnormal_DNA_methylation0.98535155
66MP0008961_abnormal_basal_metabolism0.98441422
67MP0002069_abnormal_eating/drinking_beha0.97726724
68MP0008874_decreased_physiological_sensi0.97670736
69MP0000569_abnormal_digit_pigmentation0.97522325
70MP0000751_myopathy0.95227463
71MP0003283_abnormal_digestive_organ0.94399085
72MP0005253_abnormal_eye_physiology0.92618663
73MP0010386_abnormal_urinary_bladder0.92411685
74MP0001986_abnormal_taste_sensitivity0.90355766
75MP0000013_abnormal_adipose_tissue0.89070687
76MP0003634_abnormal_glial_cell0.87843660
77MP0003632_abnormal_nervous_system0.87638617
78MP0000920_abnormal_myelination0.87506894
79MP0005535_abnormal_body_temperature0.87366775
80MP0005394_taste/olfaction_phenotype0.85742827
81MP0005499_abnormal_olfactory_system0.85742827
82MP0004085_abnormal_heartbeat0.85076169
83MP0002752_abnormal_somatic_nervous0.84711591
84MP0001346_abnormal_lacrimal_gland0.84193729
85MP0002638_abnormal_pupillary_reflex0.83528286
86MP0005167_abnormal_blood-brain_barrier0.81636658
87MP0000604_amyloidosis0.81544334
88MP0001963_abnormal_hearing_physiology0.80886537
89MP0004233_abnormal_muscle_weight0.74881520
90* MP0001177_atelectasis0.74420071
91MP0004215_abnormal_myocardial_fiber0.72514354
92MP0000631_abnormal_neuroendocrine_gland0.71915521
93MP0005409_darkened_coat_color0.69167830
94MP0003137_abnormal_impulse_conducting0.68316750
95MP0001485_abnormal_pinna_reflex0.68088591
96MP0003172_abnormal_lysosome_physiology0.64654296
97MP0004510_myositis0.63787931
98MP0003121_genomic_imprinting0.63457694
99MP0004043_abnormal_pH_regulation0.63211590
100MP0001664_abnormal_digestion0.57575832
101MP0004484_altered_response_of0.56276179
102MP0005623_abnormal_meninges_morphology0.56225372
103* MP0010768_mortality/aging0.55228455
104* MP0002082_postnatal_lethality0.54062752
105* MP0010770_preweaning_lethality0.54062752
106MP0004130_abnormal_muscle_cell0.53924644
107* MP0010769_abnormal_survival0.53356994
108MP0005195_abnormal_posterior_eye0.53025192
109* MP0001943_abnormal_respiration0.50930044
110* MP0003956_abnormal_body_size0.50717710
111MP0010234_abnormal_vibrissa_follicle0.50364145
112MP0000579_abnormal_nail_morphology0.49309244
113MP0000026_abnormal_inner_ear0.47664110
114MP0003861_abnormal_nervous_system0.47183190
115MP0002873_normal_phenotype0.46506192
116MP0001765_abnormal_ion_homeostasis0.46369343
117MP0002169_no_abnormal_phenotype0.44874456
118MP0003045_fibrosis0.44655538

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.82161921
2Myokymia (HP:0002411)7.02282908
3Focal seizures (HP:0007359)5.89893976
4Visual hallucinations (HP:0002367)5.62011367
5Epileptic encephalopathy (HP:0200134)4.85478340
6Febrile seizures (HP:0002373)4.71247829
7Progressive cerebellar ataxia (HP:0002073)4.69099577
8Atonic seizures (HP:0010819)4.51843957
9Absence seizures (HP:0002121)4.41767245
10Action tremor (HP:0002345)4.34072251
11Generalized tonic-clonic seizures (HP:0002069)4.04466476
12Dialeptic seizures (HP:0011146)3.96716692
13Supranuclear gaze palsy (HP:0000605)3.69743090
14Gaze-evoked nystagmus (HP:0000640)3.68545675
15Cerebral hypomyelination (HP:0006808)3.63875802
16Broad-based gait (HP:0002136)3.62490196
17Dysdiadochokinesis (HP:0002075)3.59887107
18Poor eye contact (HP:0000817)3.56415242
19Ankle clonus (HP:0011448)3.51838785
20Depression (HP:0000716)3.48981609
21Obstructive sleep apnea (HP:0002870)3.34163804
22Dysmetria (HP:0001310)3.30361608
23Truncal ataxia (HP:0002078)3.28010521
24Postural instability (HP:0002172)3.27175637
25Impaired vibration sensation in the lower limbs (HP:0002166)3.26390691
26Impaired social interactions (HP:0000735)3.24506842
27Abnormal social behavior (HP:0012433)3.24506842
28Mutism (HP:0002300)3.24279536
29Anxiety (HP:0000739)3.22322731
30Urinary bladder sphincter dysfunction (HP:0002839)3.18655800
31Impaired smooth pursuit (HP:0007772)3.02671562
32Genetic anticipation (HP:0003743)3.02209752
33Hemiplegia (HP:0002301)3.01096597
34Abnormal eating behavior (HP:0100738)2.96075563
35Scanning speech (HP:0002168)2.91814760
36Hemiparesis (HP:0001269)2.90761997
37Akinesia (HP:0002304)2.90542116
38Congenital stationary night blindness (HP:0007642)2.90017939
39Papilledema (HP:0001085)2.86263019
40Abnormality of the lower motor neuron (HP:0002366)2.84615274
41Intention tremor (HP:0002080)2.84417665
42Torticollis (HP:0000473)2.76544901
43Ventricular fibrillation (HP:0001663)2.75199273
44Abnormality of ocular smooth pursuit (HP:0000617)2.71772718
45Hyperventilation (HP:0002883)2.69669965
46Amblyopia (HP:0000646)2.66968214
47Dysmetric saccades (HP:0000641)2.64806756
48Abnormality of binocular vision (HP:0011514)2.64178777
49Diplopia (HP:0000651)2.64178777
50Central scotoma (HP:0000603)2.63507187
51Status epilepticus (HP:0002133)2.60106107
52Urinary urgency (HP:0000012)2.60008321
53Bradykinesia (HP:0002067)2.59219915
54Spastic gait (HP:0002064)2.58879606
55Sleep apnea (HP:0010535)2.53742011
56Focal dystonia (HP:0004373)2.51174257
57Stereotypic behavior (HP:0000733)2.50589564
58Apathy (HP:0000741)2.49829527
59Drooling (HP:0002307)2.48399082
60Excessive salivation (HP:0003781)2.48399082
61Neurofibrillary tangles (HP:0002185)2.47865567
62Progressive inability to walk (HP:0002505)2.45372912
63Annular pancreas (HP:0001734)2.42488972
64Choreoathetosis (HP:0001266)2.41338931
65Peripheral hypomyelination (HP:0007182)2.37837112
66Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.35138241
67Degeneration of the lateral corticospinal tracts (HP:0002314)2.35138241
68Cerebral inclusion bodies (HP:0100314)2.32550063
69Spastic tetraparesis (HP:0001285)2.32379961
70Abnormality of macular pigmentation (HP:0008002)2.29817064
71Epileptiform EEG discharges (HP:0011182)2.29693490
72CNS hypomyelination (HP:0003429)2.28923106
73Craniofacial dystonia (HP:0012179)2.25497337
74Diminished motivation (HP:0000745)2.24910307
75Impaired vibratory sensation (HP:0002495)2.23339549
76EEG with generalized epileptiform discharges (HP:0011198)2.22667665
77Morphological abnormality of the pyramidal tract (HP:0002062)2.21710463
78Absent speech (HP:0001344)2.20395394
79Fetal akinesia sequence (HP:0001989)2.19299060
80Pointed chin (HP:0000307)2.16096713
81Insomnia (HP:0100785)2.15005170
82Megalencephaly (HP:0001355)2.12760281
83Lower limb muscle weakness (HP:0007340)2.12661023
84Generalized myoclonic seizures (HP:0002123)2.11263100
85Rapidly progressive (HP:0003678)2.10431133
86Abnormal EKG (HP:0003115)2.06644186
87Abnormality of saccadic eye movements (HP:0000570)2.04067126
88Hypsarrhythmia (HP:0002521)2.02366396
89Clonus (HP:0002169)2.00828023
90Neuronal loss in central nervous system (HP:0002529)1.99913138
91Incomplete penetrance (HP:0003829)1.98314655
92Gait ataxia (HP:0002066)1.98114790
93Lower limb asymmetry (HP:0100559)1.97669139
94Agitation (HP:0000713)1.96230732
95Increased circulating renin level (HP:0000848)1.93874962
96Spinal canal stenosis (HP:0003416)1.93666587
97Limb dystonia (HP:0002451)1.91816099
98Abnormality of the corticospinal tract (HP:0002492)1.90471807
99Inability to walk (HP:0002540)1.90209689
100Tetraplegia (HP:0002445)1.89388586
101Prolonged QT interval (HP:0001657)1.89038117
102Rigidity (HP:0002063)1.87801096
103Bundle branch block (HP:0011710)1.87579725
104Memory impairment (HP:0002354)1.86683915
105Psychosis (HP:0000709)1.84731043
106Pheochromocytoma (HP:0002666)1.84053755
107Polyphagia (HP:0002591)1.83957608
108Resting tremor (HP:0002322)1.82952808
109Scotoma (HP:0000575)1.80892826
110Termporal pattern (HP:0011008)1.78652497
111Insidious onset (HP:0003587)1.78652497
112Unsteady gait (HP:0002317)1.78435091
113Lower limb amyotrophy (HP:0007210)1.77524230
114Heart block (HP:0012722)1.75633348
115Blue irides (HP:0000635)1.75516983
116Inappropriate behavior (HP:0000719)1.73932651
117Decreased central vision (HP:0007663)1.73169848
118Amyotrophic lateral sclerosis (HP:0007354)1.73095967
119Delusions (HP:0000746)1.72741393
120Horizontal nystagmus (HP:0000666)1.72710963

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.66184056
2NTRK34.45260360
3MAP3K93.95286406
4MAP3K42.93059939
5MINK12.64764321
6MARK12.62925182
7DAPK22.56532280
8PAK62.45866236
9MAP2K72.36260680
10PRKD32.28194697
11NTRK22.16942088
12CAMKK12.15731095
13RIPK42.15449216
14KSR22.09099623
15MAP2K41.86011523
16NTRK11.85992869
17STK381.83456196
18SIK21.71704547
19MAP3K121.68188591
20CDK51.57911432
21TNIK1.57611692
22MAP3K131.48416578
23KSR11.47232264
24DAPK11.44850444
25PRPF4B1.42508291
26FES1.39309303
27ARAF1.38822908
28CAMKK21.35753164
29PNCK1.33419738
30GRK51.31568233
31PLK21.24478429
32PRKCG1.21482172
33CDK191.19644924
34TYRO31.17194602
35PINK11.15011524
36MAPK131.12924629
37CAMK11.11454059
38UHMK11.09755210
39TAOK11.03317000
40MAP3K21.01493365
41PRKCH0.99198128
42STK110.97081750
43SGK2230.96621507
44SGK4940.96621507
45CASK0.95455983
46CAMK2A0.93131162
47TNK20.92805126
48RIPK10.92270942
49CDK150.90293435
50CDK180.89702781
51PHKG20.86275654
52PHKG10.86275654
53ALK0.85308997
54CDK140.83364981
55MAPK120.82112627
56RAF10.81689796
57BMPR20.81103363
58SGK20.80621895
59CDK11A0.78897507
60LATS20.75612152
61SGK30.75349420
62SGK10.74939492
63WNK10.74587076
64DYRK1A0.74219146
65CAMK2B0.74212948
66RET0.73784856
67MARK20.72081644
68PDK10.67991590
69CAMK1G0.67248701
70PKN10.66708538
71PAK30.65796607
72LMTK20.64524259
73PTK2B0.62371815
74MAP3K110.62014096
75NEK60.61367731
76OXSR10.60786444
77MAP3K10.60462631
78BRAF0.60160988
79PDPK10.59969747
80NEK10.59360778
81CDC42BPA0.57806718
82LIMK10.57492886
83RPS6KA30.56082371
84MAP3K70.54769661
85CAMK40.54553821
86PRKCZ0.53400824
87CAMK2D0.52044037
88MAPK100.51116796
89CAMK2G0.48359370
90CSNK1G20.47325999
91BRSK10.47016243
92FYN0.47014529
93FGFR20.45786811
94PRKCE0.41144480
95TESK10.39001904
96SCYL20.38081957
97PRKCB0.36812197
98CCNB10.33618792
99NME10.33556528
100FER0.33479208
101DAPK30.32504800
102PRKCA0.32343104
103ROCK20.31642579
104PRKD20.30954489
105DMPK0.30408427
106MUSK0.30035631
107MAPKAPK50.30004754
108MAP2K60.28485545
109MAP2K10.27627583
110PRKG20.27602166
111IRAK20.27556628
112FGR0.27354062
113ERBB20.26854117
114PRKG10.26457153
115MAPK80.25262569

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.90679875
2Synaptic vesicle cycle_Homo sapiens_hsa047213.34733701
3Olfactory transduction_Homo sapiens_hsa047402.84623708
4* GABAergic synapse_Homo sapiens_hsa047272.83467177
5Circadian entrainment_Homo sapiens_hsa047132.77439128
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74055777
7Glutamatergic synapse_Homo sapiens_hsa047242.68669139
8Morphine addiction_Homo sapiens_hsa050322.64767297
9Long-term potentiation_Homo sapiens_hsa047202.61935118
10Amphetamine addiction_Homo sapiens_hsa050312.40127034
11Salivary secretion_Homo sapiens_hsa049702.26522385
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25691604
13Dopaminergic synapse_Homo sapiens_hsa047282.12570596
14Insulin secretion_Homo sapiens_hsa049112.04346200
15Cholinergic synapse_Homo sapiens_hsa047251.94327422
16Gastric acid secretion_Homo sapiens_hsa049711.93181269
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.90165623
18Phototransduction_Homo sapiens_hsa047441.77765048
19Taste transduction_Homo sapiens_hsa047421.76963321
20Renin secretion_Homo sapiens_hsa049241.69022751
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68717070
22Oxytocin signaling pathway_Homo sapiens_hsa049211.68666755
23Long-term depression_Homo sapiens_hsa047301.68064537
24Cocaine addiction_Homo sapiens_hsa050301.66562668
25Calcium signaling pathway_Homo sapiens_hsa040201.63132942
26Serotonergic synapse_Homo sapiens_hsa047261.61134238
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.43426966
28GnRH signaling pathway_Homo sapiens_hsa049121.42998659
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.41063173
30Nitrogen metabolism_Homo sapiens_hsa009101.40669361
31Vitamin B6 metabolism_Homo sapiens_hsa007501.34837266
32cAMP signaling pathway_Homo sapiens_hsa040241.30507140
33Gap junction_Homo sapiens_hsa045401.30299174
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.30264364
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28778051
36Type II diabetes mellitus_Homo sapiens_hsa049301.21344156
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20926975
38Collecting duct acid secretion_Homo sapiens_hsa049661.17725882
39Estrogen signaling pathway_Homo sapiens_hsa049151.08002674
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04448663
41Glioma_Homo sapiens_hsa052141.02721236
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02159440
43Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.00961036
44Cardiac muscle contraction_Homo sapiens_hsa042600.99275036
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.97057251
46Melanogenesis_Homo sapiens_hsa049160.93464090
47Pancreatic secretion_Homo sapiens_hsa049720.93233343
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.91867336
49ErbB signaling pathway_Homo sapiens_hsa040120.91692943
50Axon guidance_Homo sapiens_hsa043600.89756539
51Phospholipase D signaling pathway_Homo sapiens_hsa040720.86903522
52Thyroid hormone synthesis_Homo sapiens_hsa049180.82639930
53Oocyte meiosis_Homo sapiens_hsa041140.81118089
54Dilated cardiomyopathy_Homo sapiens_hsa054140.78799404
55Dorso-ventral axis formation_Homo sapiens_hsa043200.74210831
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72511108
57Vibrio cholerae infection_Homo sapiens_hsa051100.70338202
58Choline metabolism in cancer_Homo sapiens_hsa052310.69195489
59MAPK signaling pathway_Homo sapiens_hsa040100.68682204
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65734886
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64977433
62Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64820434
63Circadian rhythm_Homo sapiens_hsa047100.60633707
64Bile secretion_Homo sapiens_hsa049760.60127878
65Inositol phosphate metabolism_Homo sapiens_hsa005620.57968403
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.57260472
67Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56211301
68VEGF signaling pathway_Homo sapiens_hsa043700.55767523
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.53814372
70Type I diabetes mellitus_Homo sapiens_hsa049400.52864280
71mTOR signaling pathway_Homo sapiens_hsa041500.52556154
72Glucagon signaling pathway_Homo sapiens_hsa049220.52382660
73Rap1 signaling pathway_Homo sapiens_hsa040150.50872506
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50734565
75Ras signaling pathway_Homo sapiens_hsa040140.50458884
76Alcoholism_Homo sapiens_hsa050340.49215514
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.46601112
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46428399
79Endocytosis_Homo sapiens_hsa041440.46115926
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.45780532
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44517237
82Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43187622
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40892470
84Non-small cell lung cancer_Homo sapiens_hsa052230.40133432
85Ovarian steroidogenesis_Homo sapiens_hsa049130.38161020
86Alzheimers disease_Homo sapiens_hsa050100.38129051
87African trypanosomiasis_Homo sapiens_hsa051430.37526488
88Arginine and proline metabolism_Homo sapiens_hsa003300.36677024
89Chemokine signaling pathway_Homo sapiens_hsa040620.35982072
90Prion diseases_Homo sapiens_hsa050200.35942592
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34251460
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.33817035
93Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33718461
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33474479
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33452908
96Wnt signaling pathway_Homo sapiens_hsa043100.33280216
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33251469
98Fatty acid biosynthesis_Homo sapiens_hsa000610.32500326
99Renal cell carcinoma_Homo sapiens_hsa052110.31631193
100Insulin signaling pathway_Homo sapiens_hsa049100.30374169
101Glycerophospholipid metabolism_Homo sapiens_hsa005640.30261312
102Endometrial cancer_Homo sapiens_hsa052130.29813636
103Mineral absorption_Homo sapiens_hsa049780.28445063
104Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.24966120
105Histidine metabolism_Homo sapiens_hsa003400.24425189
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23862770
107Arginine biosynthesis_Homo sapiens_hsa002200.23724233
108AMPK signaling pathway_Homo sapiens_hsa041520.18668186
109Tight junction_Homo sapiens_hsa045300.17581502
110HIF-1 signaling pathway_Homo sapiens_hsa040660.17011333
111beta-Alanine metabolism_Homo sapiens_hsa004100.14813188
112Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.13754773

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