HCN2

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 hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)7.03442993
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.83320034
3locomotory exploration behavior (GO:0035641)5.62190142
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.50703837
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.16914803
6glycine transport (GO:0015816)5.13048934
7glutamate secretion (GO:0014047)4.95571669
8cerebellar granule cell differentiation (GO:0021707)4.93597656
9regulation of synaptic vesicle exocytosis (GO:2000300)4.86860584
10synaptic vesicle exocytosis (GO:0016079)4.82230402
11vocalization behavior (GO:0071625)4.74092919
12sodium ion export (GO:0071436)4.54919292
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.53425036
14neuronal action potential propagation (GO:0019227)4.52440892
15neurotransmitter secretion (GO:0007269)4.50593238
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.48302484
17cellular potassium ion homeostasis (GO:0030007)4.40523037
18regulation of synapse structural plasticity (GO:0051823)4.38470776
19regulation of synaptic vesicle transport (GO:1902803)4.35509791
20regulation of neuronal synaptic plasticity (GO:0048168)4.32488793
21gamma-aminobutyric acid transport (GO:0015812)4.29202370
22layer formation in cerebral cortex (GO:0021819)4.27051305
23regulation of glutamate receptor signaling pathway (GO:1900449)4.24233638
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.21156431
25membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.11293861
26proline transport (GO:0015824)4.09786367
27neuromuscular process controlling posture (GO:0050884)4.08355780
28exploration behavior (GO:0035640)4.04995108
29positive regulation of dendritic spine development (GO:0060999)4.03867900
30positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.99242269
31postsynaptic membrane organization (GO:0001941)3.98910890
32ionotropic glutamate receptor signaling pathway (GO:0035235)3.96415222
33cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.91219494
34protein localization to synapse (GO:0035418)3.89606496
35L-amino acid import (GO:0043092)3.86313618
36dendritic spine morphogenesis (GO:0060997)3.85970695
37neuromuscular process controlling balance (GO:0050885)3.82737388
38regulation of synapse maturation (GO:0090128)3.82511763
39neurotransmitter transport (GO:0006836)3.78988950
40activation of protein kinase A activity (GO:0034199)3.73353314
41negative regulation of dendrite morphogenesis (GO:0050774)3.71826102
42positive regulation of neurotransmitter secretion (GO:0001956)3.71562998
43potassium ion import (GO:0010107)3.70266767
44long-term memory (GO:0007616)3.59207917
45cell communication by electrical coupling (GO:0010644)3.58773201
46central nervous system myelination (GO:0022010)3.57254051
47axon ensheathment in central nervous system (GO:0032291)3.57254051
48synaptic transmission, glutamatergic (GO:0035249)3.57222079
49neuron cell-cell adhesion (GO:0007158)3.51070308
50positive regulation of dendritic spine morphogenesis (GO:0061003)3.49573637
51regulation of neurotransmitter levels (GO:0001505)3.48672666
52neuron-neuron synaptic transmission (GO:0007270)3.47575993
53auditory behavior (GO:0031223)3.44854909
54neurotransmitter-gated ion channel clustering (GO:0072578)3.40348710
55potassium ion homeostasis (GO:0055075)3.38118547
56glutamate receptor signaling pathway (GO:0007215)3.35704683
57positive regulation of membrane potential (GO:0045838)3.35532208
58positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.32520891
59cerebellar Purkinje cell differentiation (GO:0021702)3.32231103
60prepulse inhibition (GO:0060134)3.29750107
61response to auditory stimulus (GO:0010996)3.29456256
62G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.28769898
63acidic amino acid transport (GO:0015800)3.27504073
64neuronal ion channel clustering (GO:0045161)3.27480928
65transmission of nerve impulse (GO:0019226)3.26572432
66cerebellar Purkinje cell layer development (GO:0021680)3.26373098
67regulation of dendritic spine development (GO:0060998)3.24815332
68regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24300876
69regulation of synaptic plasticity (GO:0048167)3.24230462
70positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.22829573
71adult walking behavior (GO:0007628)3.19967858
72regulation of dendritic spine morphogenesis (GO:0061001)3.18387686
73regulation of synaptic transmission (GO:0050804)3.16608244
74vesicle docking involved in exocytosis (GO:0006904)3.16602764
75regulation of ARF protein signal transduction (GO:0032012)3.14621659
76gamma-aminobutyric acid signaling pathway (GO:0007214)3.12387562
77neurotransmitter uptake (GO:0001504)3.11603685
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.10937350
79regulation of neurotransmitter secretion (GO:0046928)3.09412331
80positive regulation of dendrite development (GO:1900006)3.08603515
81regulation of postsynaptic membrane potential (GO:0060078)3.07772885
82vesicle transport along microtubule (GO:0047496)3.07036905
83neuromuscular process (GO:0050905)3.05908863
84regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.05566575
85membrane depolarization during action potential (GO:0086010)3.02854024
86negative regulation of microtubule polymerization (GO:0031115)3.02231735
87regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.01898438
88dicarboxylic acid transport (GO:0006835)3.00322323
89positive regulation of potassium ion transmembrane transport (GO:1901381)2.99755474
90synaptic vesicle transport (GO:0048489)2.99391839
91establishment of synaptic vesicle localization (GO:0097480)2.99391839
92membrane hyperpolarization (GO:0060081)2.99187654
93regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.98927497
94regulation of neurotransmitter transport (GO:0051588)2.98866520
95regulation of voltage-gated calcium channel activity (GO:1901385)2.98851411
96regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.98798851
97synaptic vesicle endocytosis (GO:0048488)2.98357166
98amino acid import (GO:0043090)2.97995948
99cell differentiation in hindbrain (GO:0021533)2.97782508
100dendrite morphogenesis (GO:0048813)2.97655427
101negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.93796651
102positive regulation of synapse maturation (GO:0090129)2.92996236
103mating behavior (GO:0007617)2.92783585
104regulation of synaptic transmission, glutamatergic (GO:0051966)2.91467716
105cellular sodium ion homeostasis (GO:0006883)2.91131962
106regulation of exocytosis (GO:0017157)2.90530612
107L-glutamate transport (GO:0015813)2.90092029
108positive regulation of neurotransmitter transport (GO:0051590)2.89835774
109neuron recognition (GO:0008038)2.88398384
110cell communication involved in cardiac conduction (GO:0086065)2.84327232
111positive regulation of potassium ion transport (GO:0043268)2.83947689
112cytoskeletal anchoring at plasma membrane (GO:0007016)2.81622910
113dendritic spine organization (GO:0097061)2.81055438
114organelle transport along microtubule (GO:0072384)2.81024523
115axon cargo transport (GO:0008088)2.80921624
116long-term synaptic potentiation (GO:0060291)2.79821109
117regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.79228357
118membrane depolarization (GO:0051899)2.78913693
119negative regulation of synaptic transmission, GABAergic (GO:0032229)2.78106398
120cell migration in hindbrain (GO:0021535)2.74890663
121regulation of vesicle fusion (GO:0031338)2.74415649

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.00565193
2* RARB_27405468_Chip-Seq_BRAIN_Mouse3.05082791
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93797686
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92108959
5RNF2_18974828_ChIP-Seq_MESCs_Mouse2.80848693
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.80848693
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.77933796
8DROSHA_22980978_ChIP-Seq_HELA_Human2.76126842
9* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.75987662
10* REST_21632747_ChIP-Seq_MESCs_Mouse2.71120101
11MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.66755921
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55467921
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54362117
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53660169
15* REST_18959480_ChIP-ChIP_MESCs_Mouse2.39481856
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35987520
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.32304662
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.27639612
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27531720
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.23550391
21SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.19355989
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.18534251
23GBX2_23144817_ChIP-Seq_PC3_Human2.06639380
24ERG_21242973_ChIP-ChIP_JURKAT_Human2.02358394
25* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.98163844
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.88069257
27ZFP281_18757296_ChIP-ChIP_E14_Mouse1.84269991
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83703134
29* KDM2B_26808549_Chip-Seq_K562_Human1.78818356
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74949536
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71102667
32* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.68321729
33* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.67685368
34ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.60184573
35TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.56794802
36WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.54119217
37* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.53507770
38AR_21572438_ChIP-Seq_LNCaP_Human1.53304961
39SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.51078584
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.49272675
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.46182042
42SRY_22984422_ChIP-ChIP_TESTIS_Rat1.44780342
43* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.44541815
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.40723801
45* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.34791142
46* P68_20966046_ChIP-Seq_HELA_Human1.31354308
47CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.29892651
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.29683650
49SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.25850636
50RACK7_27058665_Chip-Seq_MCF-7_Human1.24800955
51* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.23529440
52ESR2_21235772_ChIP-Seq_MCF-7_Human1.23281220
53* TET1_21451524_ChIP-Seq_MESCs_Mouse1.23038855
54GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22866507
55TRIM28_21343339_ChIP-Seq_HEK293_Human1.20720054
56TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18748899
57KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18696225
58PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.17722582
59AR_19668381_ChIP-Seq_PC3_Human1.17312124
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16827362
61TET1_21490601_ChIP-Seq_MESCs_Mouse1.16334180
62RARG_19884340_ChIP-ChIP_MEFs_Mouse1.14505017
63* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.11852442
64SOX2_21211035_ChIP-Seq_LN229_Gbm1.11675409
65CTCF_27219007_Chip-Seq_Bcells_Human1.11225058
66GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.09703482
67SMC4_20622854_ChIP-Seq_HELA_Human1.09571556
68LXR_22292898_ChIP-Seq_THP-1_Human1.08349817
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05856382
70SMAD4_21799915_ChIP-Seq_A2780_Human1.04438333
71TCF7_22412390_ChIP-Seq_EML_Mouse1.04262573
72SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03948234
73ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02017409
74SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.01876182
75KDM2B_26808549_Chip-Seq_DND41_Human0.99539030
76RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98658664
77PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98491899
78DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98467464
79OCT4_19829295_ChIP-Seq_ESCs_Human0.98252540
80TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.97976379
81* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97935122
82SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97208103
83SMAD3_21741376_ChIP-Seq_HESCs_Human0.97206242
84KLF4_19829295_ChIP-Seq_ESCs_Human0.97097191
85NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.96834713
86* SA1_27219007_Chip-Seq_ERYTHROID_Human0.96475779
87P53_22127205_ChIP-Seq_FIBROBLAST_Human0.96448528
88STAT3_23295773_ChIP-Seq_U87_Human0.95741541
89SMAD4_21741376_ChIP-Seq_HESCs_Human0.94096001
90TP53_23651856_ChIP-Seq_MEFs_Mouse0.93942033
91* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.93875135
92GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.92958477
93* KDM2B_26808549_Chip-Seq_JURKAT_Human0.91796772
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91511145
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91457348
96ESR1_21235772_ChIP-Seq_MCF-7_Human0.91279480
97SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91017275
98SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.90995425
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.89210939
100AHR_22903824_ChIP-Seq_MCF-7_Human0.88511837
101PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87843503
102P300_27058665_Chip-Seq_ZR-75-30cells_Human0.87204556
103SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.87123154
104NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.86870389
105OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.86608064
106ZNF217_24962896_ChIP-Seq_MCF-7_Human0.86058055
107SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84344209
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.84165471
109YAP1_20516196_ChIP-Seq_MESCs_Mouse0.83704620
110RUNX1_26923725_Chip-Seq_HPCs_Mouse0.83697388
111CTBP2_25329375_ChIP-Seq_LNCAP_Human0.83092562
112MYC_19915707_ChIP-ChIP_AK7_Human0.82762768
113RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.82574497
114ARNT_22903824_ChIP-Seq_MCF-7_Human0.81942871
115SMAD3_21741376_ChIP-Seq_ESCs_Human0.81750852
116SMAD4_21741376_ChIP-Seq_ESCs_Human0.81669942
117ESR1_20079471_ChIP-ChIP_T-47D_Human0.81514977
118GATA1_26923725_Chip-Seq_HPCs_Mouse0.81095249
119CREB1_26743006_Chip-Seq_LNCaP_Human0.79625311
120* MITF_21258399_ChIP-Seq_MELANOMA_Human0.79399733
121PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.78743291
122* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.78175427
123EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.77967445
124SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.77360284
125TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77054514
126* DPY_21335234_ChIP-Seq_ESCs_Mouse0.76590335
127CTBP1_25329375_ChIP-Seq_LNCAP_Human0.75714772
128* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.74595711
129CDX2_19796622_ChIP-Seq_MESCs_Mouse0.74252093

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.35376425
2MP0003880_abnormal_central_pattern4.49648978
3* MP0003635_abnormal_synaptic_transmissio3.99006658
4MP0004270_analgesia3.61727580
5MP0002822_catalepsy3.24184620
6* MP0009745_abnormal_behavioral_response3.14067294
7* MP0002064_seizures3.13645531
8MP0009046_muscle_twitch3.12563102
9MP0002063_abnormal_learning/memory/cond3.09095940
10MP0005423_abnormal_somatic_nervous2.91952038
11MP0001486_abnormal_startle_reflex2.73026274
12* MP0002272_abnormal_nervous_system2.64798749
13MP0002734_abnormal_mechanical_nocicepti2.48315380
14* MP0002572_abnormal_emotion/affect_behav2.48201218
15MP0004858_abnormal_nervous_system2.47846155
16MP0001968_abnormal_touch/_nociception2.36648545
17MP0002909_abnormal_adrenal_gland2.28582813
18MP0008569_lethality_at_weaning2.21814470
19MP0003329_amyloid_beta_deposits2.13887936
20MP0001501_abnormal_sleep_pattern2.07317958
21MP0002733_abnormal_thermal_nociception2.00047853
22MP0001970_abnormal_pain_threshold1.98513202
23MP0004885_abnormal_endolymph1.94460033
24MP0001440_abnormal_grooming_behavior1.86416442
25MP0004811_abnormal_neuron_physiology1.82387872
26MP0000955_abnormal_spinal_cord1.81075043
27MP0002067_abnormal_sensory_capabilities1.78148162
28MP0000920_abnormal_myelination1.74614942
29MP0009780_abnormal_chondrocyte_physiolo1.69662813
30MP0004142_abnormal_muscle_tone1.69370849
31MP0003123_paternal_imprinting1.68696231
32MP0003633_abnormal_nervous_system1.63700587
33MP0004924_abnormal_behavior1.58213749
34MP0005386_behavior/neurological_phenoty1.58213749
35MP0002735_abnormal_chemical_nociception1.57672086
36MP0002184_abnormal_innervation1.57573893
37MP0002736_abnormal_nociception_after1.57552605
38MP0003690_abnormal_glial_cell1.57046436
39MP0000778_abnormal_nervous_system1.55269024
40MP0002557_abnormal_social/conspecific_i1.50210075
41MP0003283_abnormal_digestive_organ1.46434273
42* MP0002066_abnormal_motor_capabilities/c1.46306581
43MP0002882_abnormal_neuron_morphology1.41573639
44MP0008961_abnormal_basal_metabolism1.39613102
45MP0003122_maternal_imprinting1.33850418
46MP0003631_nervous_system_phenotype1.33507329
47MP0000751_myopathy1.30426338
48MP0005646_abnormal_pituitary_gland1.30123048
49MP0003634_abnormal_glial_cell1.28631554
50MP0004043_abnormal_pH_regulation1.27569764
51MP0003787_abnormal_imprinting1.23932467
52MP0005623_abnormal_meninges_morphology1.22700595
53MP0003075_altered_response_to1.20934290
54MP0005167_abnormal_blood-brain_barrier1.20430894
55MP0002229_neurodegeneration1.19835993
56MP0001346_abnormal_lacrimal_gland1.18872752
57MP0001529_abnormal_vocalization1.15986252
58MP0005499_abnormal_olfactory_system1.15835196
59MP0005394_taste/olfaction_phenotype1.15835196
60MP0001984_abnormal_olfaction1.15826327
61MP0003879_abnormal_hair_cell1.15166974
62MP0004145_abnormal_muscle_electrophysio1.11865477
63MP0003705_abnormal_hypodermis_morpholog1.07422757
64MP0008872_abnormal_physiological_respon1.05833073
65MP0002152_abnormal_brain_morphology1.04650630
66MP0003632_abnormal_nervous_system1.04414719
67MP0000579_abnormal_nail_morphology1.00889941
68MP0001905_abnormal_dopamine_level1.00546803
69MP0008874_decreased_physiological_sensi0.99160027
70MP0000013_abnormal_adipose_tissue0.99146313
71MP0001502_abnormal_circadian_rhythm0.96715495
72MP0004215_abnormal_myocardial_fiber0.93679325
73MP0003172_abnormal_lysosome_physiology0.91553745
74MP0000604_amyloidosis0.91553074
75* MP0004085_abnormal_heartbeat0.90658418
76MP0006276_abnormal_autonomic_nervous0.90545299
77MP0005409_darkened_coat_color0.90313798
78MP0002249_abnormal_larynx_morphology0.89366143
79* MP0003137_abnormal_impulse_conducting0.89178195
80MP0000747_muscle_weakness0.87711800
81MP0001177_atelectasis0.86546686
82MP0002069_abnormal_eating/drinking_beha0.84620791
83MP0005645_abnormal_hypothalamus_physiol0.84505046
84MP0002653_abnormal_ependyma_morphology0.81859381
85MP0002837_dystrophic_cardiac_calcinosis0.80704759
86MP0002089_abnormal_postnatal_growth/wei0.78185707
87MP0004742_abnormal_vestibular_system0.75868506
88MP0002752_abnormal_somatic_nervous0.74423376
89MP0004130_abnormal_muscle_cell0.72696143
90MP0001485_abnormal_pinna_reflex0.72371632
91MP0004484_altered_response_of0.72074755
92MP0001348_abnormal_lacrimal_gland0.71791910
93MP0005535_abnormal_body_temperature0.71518341
94MP0003646_muscle_fatigue0.69763859
95MP0004233_abnormal_muscle_weight0.69445995
96MP0002090_abnormal_vision0.68773063
97MP0001963_abnormal_hearing_physiology0.67327198
98MP0004510_myositis0.67059674
99MP0000749_muscle_degeneration0.63999476
100MP0001299_abnormal_eye_distance/0.63989392
101MP0004036_abnormal_muscle_relaxation0.62373276
102MP0005551_abnormal_eye_electrophysiolog0.60648223
103MP0002332_abnormal_exercise_endurance0.59718065
104MP0004084_abnormal_cardiac_muscle0.59185205
105MP0001943_abnormal_respiration0.58542190
106MP0000003_abnormal_adipose_tissue0.57460269
107MP0001188_hyperpigmentation0.56932428
108MP0003861_abnormal_nervous_system0.56928979
109MP0010769_abnormal_survival0.55975769
110MP0008260_abnormal_autophagy0.55192117
111MP0002269_muscular_atrophy0.55127666
112MP0010770_preweaning_lethality0.53503266
113MP0002082_postnatal_lethality0.53503266
114MP0000681_abnormal_thyroid_gland0.52917039
115MP0010768_mortality/aging0.51590183
116* MP0003956_abnormal_body_size0.51468051
117MP0004147_increased_porphyrin_level0.51430763
118MP0005166_decreased_susceptibility_to0.50346733
119MP0001731_abnormal_postnatal_growth0.49723647
120MP0000462_abnormal_digestive_system0.48849577
121MP0002873_normal_phenotype0.47241578
122MP0002169_no_abnormal_phenotype0.45467119
123MP0005171_absent_coat_pigmentation0.45070809
124MP0009672_abnormal_birth_weight0.41110708

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.82394516
2Focal motor seizures (HP:0011153)5.61692503
3Focal seizures (HP:0007359)4.76427146
4Visual hallucinations (HP:0002367)4.69128610
5Supranuclear gaze palsy (HP:0000605)4.52067934
6Action tremor (HP:0002345)4.30431662
7Ankle clonus (HP:0011448)4.16111944
8Obstructive sleep apnea (HP:0002870)3.98324366
9Abnormality of the lower motor neuron (HP:0002366)3.69048676
10Atonic seizures (HP:0010819)3.54029778
11Epileptic encephalopathy (HP:0200134)3.52872930
12Progressive cerebellar ataxia (HP:0002073)3.47939457
13Febrile seizures (HP:0002373)3.42669865
14Depression (HP:0000716)3.40751739
15Ventricular fibrillation (HP:0001663)3.31655578
16Generalized tonic-clonic seizures (HP:0002069)3.30825805
17Postural instability (HP:0002172)3.29417131
18Dysmetria (HP:0001310)3.21498041
19Intention tremor (HP:0002080)3.16375692
20Dysdiadochokinesis (HP:0002075)3.15088902
21Absence seizures (HP:0002121)3.12096307
22Akinesia (HP:0002304)3.08215670
23Dialeptic seizures (HP:0011146)3.07494116
24Neurofibrillary tangles (HP:0002185)2.98218371
25Torticollis (HP:0000473)2.96526432
26Poor eye contact (HP:0000817)2.95819957
27Urinary urgency (HP:0000012)2.93760743
28Mutism (HP:0002300)2.93033025
29Spastic gait (HP:0002064)2.92692965
30Urinary bladder sphincter dysfunction (HP:0002839)2.88029405
31Anxiety (HP:0000739)2.85869522
32Impaired vibration sensation in the lower limbs (HP:0002166)2.85455644
33Delusions (HP:0000746)2.83210334
34Bundle branch block (HP:0011710)2.79507450
35Abnormal social behavior (HP:0012433)2.78936255
36Impaired social interactions (HP:0000735)2.78936255
37Abnormality of the corticospinal tract (HP:0002492)2.78508339
38Insomnia (HP:0100785)2.75797497
39Peripheral hypomyelination (HP:0007182)2.69540604
40Papilledema (HP:0001085)2.67391919
41Annular pancreas (HP:0001734)2.67059058
42Hemiparesis (HP:0001269)2.65274024
43Hemiplegia (HP:0002301)2.62506954
44Cerebral inclusion bodies (HP:0100314)2.60621474
45Abnormal eating behavior (HP:0100738)2.60421731
46Truncal ataxia (HP:0002078)2.56171975
47Resting tremor (HP:0002322)2.55922440
48Scanning speech (HP:0002168)2.55675965
49Megalencephaly (HP:0001355)2.55308178
50Focal dystonia (HP:0004373)2.54492512
51Diminished motivation (HP:0000745)2.54270876
52Amblyopia (HP:0000646)2.52364596
53Pheochromocytoma (HP:0002666)2.51793903
54Termporal pattern (HP:0011008)2.50148683
55Insidious onset (HP:0003587)2.50148683
56Gaze-evoked nystagmus (HP:0000640)2.47371571
57Lower limb muscle weakness (HP:0007340)2.46748280
58Broad-based gait (HP:0002136)2.43306306
59Onion bulb formation (HP:0003383)2.41603263
60Craniofacial dystonia (HP:0012179)2.40716515
61Bradykinesia (HP:0002067)2.39030792
62Hyperacusis (HP:0010780)2.39023510
63Clonus (HP:0002169)2.36439912
64Tetraplegia (HP:0002445)2.31769879
65Sleep apnea (HP:0010535)2.26891466
66Genetic anticipation (HP:0003743)2.25104501
67Limb dystonia (HP:0002451)2.23715172
68Rapidly progressive (HP:0003678)2.23617336
69Abnormal EKG (HP:0003115)2.22176877
70Neuronal loss in central nervous system (HP:0002529)2.21719944
71Epileptiform EEG discharges (HP:0011182)2.21538227
72Amyotrophic lateral sclerosis (HP:0007354)2.21219790
73Impaired smooth pursuit (HP:0007772)2.19745708
74Choreoathetosis (HP:0001266)2.19143802
75Dysmetric saccades (HP:0000641)2.18227212
76Spastic tetraparesis (HP:0001285)2.17651704
77Status epilepticus (HP:0002133)2.17129459
78Lower limb asymmetry (HP:0100559)2.14088938
79Cerebral hypomyelination (HP:0006808)2.12015182
80Spinal canal stenosis (HP:0003416)2.11778462
81Pointed chin (HP:0000307)2.11255364
82Upper limb amyotrophy (HP:0009129)2.10704872
83Distal upper limb amyotrophy (HP:0007149)2.10704872
84Diplopia (HP:0000651)2.09062213
85Abnormality of binocular vision (HP:0011514)2.09062213
86Neoplasm of the heart (HP:0100544)2.08086816
87Achilles tendon contracture (HP:0001771)2.07543221
88Hand muscle atrophy (HP:0009130)2.06972251
89Lower limb amyotrophy (HP:0007210)2.06901674
90Abnormality of saccadic eye movements (HP:0000570)2.06323932
91Abnormality of the periventricular white matter (HP:0002518)2.05688205
92Rigidity (HP:0002063)2.05320706
93Hyperventilation (HP:0002883)2.04010370
94Neuroendocrine neoplasm (HP:0100634)2.03745811
95Turricephaly (HP:0000262)2.03451455
96Prolonged QT interval (HP:0001657)2.02557696
97Difficulty running (HP:0009046)2.02487354
98Abnormality of ocular smooth pursuit (HP:0000617)2.01308014
99Progressive inability to walk (HP:0002505)2.01247415
100CNS hypomyelination (HP:0003429)1.99150569
101Drooling (HP:0002307)1.97043061
102Excessive salivation (HP:0003781)1.97043061
103Stereotypic behavior (HP:0000733)1.96449128
104Impaired vibratory sensation (HP:0002495)1.96329712
105Dysphonia (HP:0001618)1.95872814
106Apathy (HP:0000741)1.92444496
107EEG with generalized epileptiform discharges (HP:0011198)1.92025725
108Aplasia involving bones of the extremities (HP:0009825)1.91713880
109Aplasia involving bones of the upper limbs (HP:0009823)1.91713880
110Aplasia of the phalanges of the hand (HP:0009802)1.91713880
111Heart block (HP:0012722)1.91097347
112Generalized hypotonia (HP:0001290)1.91079997
113Neoplasm of the peripheral nervous system (HP:0100007)1.90094851
114Distal sensory impairment (HP:0002936)1.89583256
115Generalized myoclonic seizures (HP:0002123)1.89292371
116Hammertoe (HP:0001765)1.89179307
117Abnormal atrioventricular conduction (HP:0005150)1.87581455
118Overriding aorta (HP:0002623)1.87104548
119Foot dorsiflexor weakness (HP:0009027)1.86232785
120Dementia (HP:0000726)1.83991639
121Incomplete penetrance (HP:0003829)1.83935194
122Cerebral aneurysm (HP:0004944)1.78512088
123Slow saccadic eye movements (HP:0000514)1.78296513
124Slow progression (HP:0003677)1.77893459
125Hypsarrhythmia (HP:0002521)1.76514632

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K93.86708562
2NTRK33.61077397
3EPHA43.54701473
4PRKD33.04484796
5PAK62.61208041
6NTRK12.58111566
7MINK12.39293355
8MAP3K42.37246444
9MARK12.36368588
10KSR22.34639348
11GRK52.26788593
12CAMKK12.19139339
13DAPK22.07193039
14TYRO32.01379156
15NTRK21.92769715
16STK381.79198925
17WNK11.75795798
18MAP2K41.75390027
19UHMK11.72201318
20LMTK21.57502076
21MAP2K71.51604119
22PHKG11.48348909
23PHKG21.48348909
24CDK51.47627693
25PINK11.41483960
26ALK1.39497770
27CDK191.31602838
28MAP3K21.22940058
29TAOK11.21895864
30PRKCH1.18752347
31RIPK41.14148663
32SGK4941.13242564
33SGK2231.13242564
34RIPK11.12810301
35CAMKK21.06552419
36LATS21.05402581
37MARK21.03204183
38STK111.02563563
39PRKCG1.01492572
40TESK11.01113802
41MAPK120.96521214
42FES0.96076562
43ARAF0.96029340
44CDK150.95726695
45CAMK10.95578917
46KSR10.95518669
47RET0.94194637
48BRAF0.93468556
49PAK30.92145697
50CDK180.91736300
51SIK20.90020573
52CDK140.88245470
53PRPF4B0.88179165
54NEK10.87494410
55CAMK2B0.84721514
56OXSR10.83779057
57CDK11A0.83542720
58MAP3K110.82849971
59CAMK40.82428646
60DAPK10.79792313
61MAP3K130.79554701
62PKN10.79530513
63PDK10.77078850
64STK390.76986376
65EEF2K0.76286151
66CDC42BPA0.75353218
67MAP3K120.75015095
68PDPK10.74664582
69CAMK2A0.74602607
70CASK0.74105363
71TNK20.73939644
72MAPK130.72533137
73SMG10.71846009
74PLK20.71014952
75MAP3K10.69687827
76CAMK2G0.69657198
77MAP3K70.69540953
78LIMK10.68577918
79CAMK2D0.67653678
80BRSK10.67347241
81ICK0.64123390
82SGK30.62738951
83DAPK30.61567449
84ROCK20.61439593
85IRAK20.61113044
86SCYL20.60566765
87PRKD10.60261005
88TAOK20.59601247
89MAPKAPK50.59332543
90MAPK100.58530156
91PDGFRA0.57479387
92PNCK0.57457818
93RPS6KA30.55444501
94SGK20.55434134
95NEK60.55139962
96BMX0.55004098
97SGK10.53654351
98SIK10.52043127
99BMPR20.51717439
100RAF10.51072885
101TRIB30.50687117
102DMPK0.50570112
103TNIK0.48584749
104FGFR20.47814671
105FYN0.47141848
106MOS0.46327294
107DYRK1A0.45747337
108CSNK1G20.45246662
109WNK40.44247562
110PRKCZ0.44226292
111CAMK1G0.42974520
112ROCK10.41444279
113PRKD20.40306072
114HIPK20.40108649
115MAP2K10.39137118
116RPS6KA20.37676632
117PTK20.33262083
118MAPK80.32425668
119MAPK40.31548343
120AKT20.30286894

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.34028181
2Synaptic vesicle cycle_Homo sapiens_hsa047213.06615566
3Nicotine addiction_Homo sapiens_hsa050332.75135438
4Olfactory transduction_Homo sapiens_hsa047402.69809413
5GABAergic synapse_Homo sapiens_hsa047272.64674352
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.60162382
7Glutamatergic synapse_Homo sapiens_hsa047242.40674582
8Circadian entrainment_Homo sapiens_hsa047132.37806318
9Long-term potentiation_Homo sapiens_hsa047202.29092672
10Morphine addiction_Homo sapiens_hsa050322.19241227
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.11782940
12Salivary secretion_Homo sapiens_hsa049702.06595879
13Amphetamine addiction_Homo sapiens_hsa050312.01703343
14Gastric acid secretion_Homo sapiens_hsa049711.95173526
15Dopaminergic synapse_Homo sapiens_hsa047281.91960054
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.88524492
17Insulin secretion_Homo sapiens_hsa049111.88003567
18Cholinergic synapse_Homo sapiens_hsa047251.74756559
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.74254093
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.64675306
21Cocaine addiction_Homo sapiens_hsa050301.58402027
22Long-term depression_Homo sapiens_hsa047301.51654867
23Taste transduction_Homo sapiens_hsa047421.49407345
24Oxytocin signaling pathway_Homo sapiens_hsa049211.48185773
25Renin secretion_Homo sapiens_hsa049241.48041289
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.45415866
27GnRH signaling pathway_Homo sapiens_hsa049121.41198002
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40456876
29Calcium signaling pathway_Homo sapiens_hsa040201.38886720
30Gap junction_Homo sapiens_hsa045401.37304820
31Serotonergic synapse_Homo sapiens_hsa047261.30317530
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29810552
33* cAMP signaling pathway_Homo sapiens_hsa040241.22920109
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.22618080
35Type II diabetes mellitus_Homo sapiens_hsa049301.20944124
36Cardiac muscle contraction_Homo sapiens_hsa042601.08968270
37Phospholipase D signaling pathway_Homo sapiens_hsa040721.08419241
38Estrogen signaling pathway_Homo sapiens_hsa049151.07962537
39Glioma_Homo sapiens_hsa052141.06252295
40Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.03467618
41Dorso-ventral axis formation_Homo sapiens_hsa043201.01165713
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.98472517
43Dilated cardiomyopathy_Homo sapiens_hsa054140.98113879
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96268705
45Axon guidance_Homo sapiens_hsa043600.95684121
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.95494499
47ErbB signaling pathway_Homo sapiens_hsa040120.94650733
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.94188851
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.90413512
50Melanogenesis_Homo sapiens_hsa049160.89549224
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.89253509
52Pancreatic secretion_Homo sapiens_hsa049720.83503485
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.81453730
54Bile secretion_Homo sapiens_hsa049760.80660151
55Collecting duct acid secretion_Homo sapiens_hsa049660.80573680
56Oocyte meiosis_Homo sapiens_hsa041140.77704456
57mTOR signaling pathway_Homo sapiens_hsa041500.77380458
58Thyroid hormone synthesis_Homo sapiens_hsa049180.74990804
59Endocytosis_Homo sapiens_hsa041440.74858105
60Vitamin B6 metabolism_Homo sapiens_hsa007500.73847261
61Choline metabolism in cancer_Homo sapiens_hsa052310.73188081
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70456752
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70439590
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.69936796
65Inositol phosphate metabolism_Homo sapiens_hsa005620.69417302
66Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.68195146
67MAPK signaling pathway_Homo sapiens_hsa040100.67642327
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.67304653
69VEGF signaling pathway_Homo sapiens_hsa043700.65817378
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64888858
71Arginine biosynthesis_Homo sapiens_hsa002200.64586581
72Rap1 signaling pathway_Homo sapiens_hsa040150.63944297
73Vibrio cholerae infection_Homo sapiens_hsa051100.59070187
74Ras signaling pathway_Homo sapiens_hsa040140.59017001
75Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.57705191
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55394828
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55313303
78Renal cell carcinoma_Homo sapiens_hsa052110.54696209
79Non-small cell lung cancer_Homo sapiens_hsa052230.53827051
80Arginine and proline metabolism_Homo sapiens_hsa003300.51758249
81Ovarian steroidogenesis_Homo sapiens_hsa049130.50461282
82Prion diseases_Homo sapiens_hsa050200.48859118
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48810973
84AMPK signaling pathway_Homo sapiens_hsa041520.48761549
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.48690117
86Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47326954
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.46188837
88Glucagon signaling pathway_Homo sapiens_hsa049220.45780603
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45572765
90Insulin signaling pathway_Homo sapiens_hsa049100.42655118
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42645616
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.42405443
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41958630
94Alcoholism_Homo sapiens_hsa050340.41253223
952-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.40380555
96HIF-1 signaling pathway_Homo sapiens_hsa040660.39250531
97Endometrial cancer_Homo sapiens_hsa052130.38614261
98Tight junction_Homo sapiens_hsa045300.38231487
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.37669256
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36653706
101Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.36432344
102Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.36344938
103Wnt signaling pathway_Homo sapiens_hsa043100.36131191
104Fatty acid biosynthesis_Homo sapiens_hsa000610.34663097
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34369544
106Chemokine signaling pathway_Homo sapiens_hsa040620.33160116
107Type I diabetes mellitus_Homo sapiens_hsa049400.32321087
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32187595
109Hippo signaling pathway_Homo sapiens_hsa043900.31996083
110Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.27454243
111Biosynthesis of amino acids_Homo sapiens_hsa012300.25996452
112Chronic myeloid leukemia_Homo sapiens_hsa052200.25208581
113Circadian rhythm_Homo sapiens_hsa047100.22516634

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