GRIN2C

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





Description: This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.62568181
2cerebellar granule cell differentiation (GO:0021707)6.53739906
3cellular potassium ion homeostasis (GO:0030007)6.02129609
4sodium ion export (GO:0071436)6.02054684
5neuronal action potential propagation (GO:0019227)5.89359374
6response to pheromone (GO:0019236)5.74793900
7gamma-aminobutyric acid transport (GO:0015812)5.73977625
8synaptic vesicle maturation (GO:0016188)5.59951414
9regulation of short-term neuronal synaptic plasticity (GO:0048172)5.47732376
10positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.41294486
11positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.22619805
12G-protein coupled glutamate receptor signaling pathway (GO:0007216)5.20940624
13cerebellar Purkinje cell differentiation (GO:0021702)5.13314858
14vocalization behavior (GO:0071625)4.92975514
15central nervous system myelination (GO:0022010)4.81149239
16axon ensheathment in central nervous system (GO:0032291)4.81149239
17neurotransmitter secretion (GO:0007269)4.80267094
18synaptic vesicle exocytosis (GO:0016079)4.66095333
19regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.60856498
20cell differentiation in hindbrain (GO:0021533)4.60825612
21membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.58020039
22* glutamate receptor signaling pathway (GO:0007215)4.57804185
23cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.54984629
24glutamate secretion (GO:0014047)4.51127814
25* ionotropic glutamate receptor signaling pathway (GO:0035235)4.51054246
26C4-dicarboxylate transport (GO:0015740)4.46163458
27regulation of synaptic vesicle exocytosis (GO:2000300)4.44145841
28long-term memory (GO:0007616)4.39722964
29potassium ion import (GO:0010107)4.39208059
30* synaptic transmission, glutamatergic (GO:0035249)4.28387564
31positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.23673939
32regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.23625375
33cell communication by electrical coupling (GO:0010644)4.22528741
34positive regulation of synapse maturation (GO:0090129)4.21376587
35neuromuscular process controlling posture (GO:0050884)4.21356041
36exploration behavior (GO:0035640)4.19280209
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.18856328
38neuronal ion channel clustering (GO:0045161)4.17182713
39postsynaptic membrane organization (GO:0001941)4.14580409
40neurotransmitter-gated ion channel clustering (GO:0072578)4.07772643
41synaptic vesicle docking involved in exocytosis (GO:0016081)4.03491081
42cellular sodium ion homeostasis (GO:0006883)4.00247079
43regulation of glutamate receptor signaling pathway (GO:1900449)3.99614148
44positive regulation of dendritic spine development (GO:0060999)3.97916462
45negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.96849173
46L-amino acid import (GO:0043092)3.93394833
47layer formation in cerebral cortex (GO:0021819)3.91843439
48regulation of long-term neuronal synaptic plasticity (GO:0048169)3.91081146
49regulation of synaptic vesicle transport (GO:1902803)3.88063911
50potassium ion homeostasis (GO:0055075)3.86918991
51gamma-aminobutyric acid signaling pathway (GO:0007214)3.84589080
52* neuron-neuron synaptic transmission (GO:0007270)3.82433420
53transmission of nerve impulse (GO:0019226)3.82268712
54neurotransmitter transport (GO:0006836)3.81544250
55regulation of synapse structural plasticity (GO:0051823)3.77925401
56auditory behavior (GO:0031223)3.76008600
57glycine transport (GO:0015816)3.74783686
58cytoskeletal anchoring at plasma membrane (GO:0007016)3.73116789
59regulation of neuronal synaptic plasticity (GO:0048168)3.72395691
60proline transport (GO:0015824)3.70530537
61regulation of neurotransmitter levels (GO:0001505)3.67266279
62* neuromuscular process controlling balance (GO:0050885)3.60697503
63membrane depolarization during action potential (GO:0086010)3.57606599
64neurotransmitter uptake (GO:0001504)3.53976924
65neuron cell-cell adhesion (GO:0007158)3.51415104
66regulation of voltage-gated calcium channel activity (GO:1901385)3.46680805
67prepulse inhibition (GO:0060134)3.45691324
68negative regulation of hormone metabolic process (GO:0032351)3.44422454
69negative regulation of hormone biosynthetic process (GO:0032353)3.44422454
70adult walking behavior (GO:0007628)3.42607370
71positive regulation of membrane potential (GO:0045838)3.41587051
72negative regulation of synaptic transmission, GABAergic (GO:0032229)3.41572849
73amino acid import (GO:0043090)3.41010443
74regulation of ARF protein signal transduction (GO:0032012)3.40477914
75acidic amino acid transport (GO:0015800)3.39918824
76dendrite morphogenesis (GO:0048813)3.37079177
77positive regulation of neurotransmitter transport (GO:0051590)3.34928674
78positive regulation of neurotransmitter secretion (GO:0001956)3.33935411
79regulation of beta-amyloid formation (GO:1902003)3.33522430
80response to auditory stimulus (GO:0010996)3.30885168
81dendritic spine morphogenesis (GO:0060997)3.30608009
82* regulation of excitatory postsynaptic membrane potential (GO:0060079)3.30301195
83synaptic vesicle endocytosis (GO:0048488)3.30169005
84positive regulation of potassium ion transmembrane transport (GO:1901381)3.29258757
85establishment of nucleus localization (GO:0040023)3.29091580
86positive regulation of dendritic spine morphogenesis (GO:0061003)3.27547535
87alanine transport (GO:0032328)3.25890816
88mechanosensory behavior (GO:0007638)3.24840547
89regulation of synaptic transmission, glutamatergic (GO:0051966)3.22993644
90L-glutamate transport (GO:0015813)3.22804719
91regulation of synaptic transmission (GO:0050804)3.22570239
92protein localization to synapse (GO:0035418)3.22457923
93regulation of synapse maturation (GO:0090128)3.21741449
94regulation of neurotransmitter secretion (GO:0046928)3.20635780
95long term synaptic depression (GO:0060292)3.19274521
96activation of protein kinase A activity (GO:0034199)3.19211351
97regulation of dendritic spine development (GO:0060998)3.15023718
98establishment of synaptic vesicle localization (GO:0097480)3.14125553
99synaptic vesicle transport (GO:0048489)3.14125553
100dendritic spine organization (GO:0097061)3.12564631
101negative regulation of dendrite morphogenesis (GO:0050774)3.12105557
102membrane hyperpolarization (GO:0060081)3.11753227
103regulation of synaptic plasticity (GO:0048167)3.10434920
104regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.08982857
105* regulation of postsynaptic membrane potential (GO:0060078)3.08912167
106cerebellar Purkinje cell layer development (GO:0021680)3.08562560
107positive regulation of dendrite development (GO:1900006)3.07997653
108signal release (GO:0023061)3.04593668
109vesicle docking involved in exocytosis (GO:0006904)3.04271635
110* synaptic transmission (GO:0007268)3.03583484
111* membrane depolarization (GO:0051899)3.02638507
112membrane repolarization (GO:0086009)3.01555962
113regulation of exocytosis (GO:0017157)2.99478426
114regulation of vesicle fusion (GO:0031338)2.99459736
115regulation of neurotransmitter transport (GO:0051588)2.99181399
116positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.98185618
117long-term synaptic potentiation (GO:0060291)2.94937770
118intraspecies interaction between organisms (GO:0051703)2.94915811
119social behavior (GO:0035176)2.94915811
120cell communication involved in cardiac conduction (GO:0086065)2.94799619
121neuromuscular synaptic transmission (GO:0007274)2.93481358
122regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.92921649
123positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.92528323
124chemosensory behavior (GO:0007635)2.92519299
125synapse assembly (GO:0007416)2.90335092
126regulation of dendritic spine morphogenesis (GO:0061001)2.89143146

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.08668635
2* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.29266989
3DROSHA_22980978_ChIP-Seq_HELA_Human3.18048873
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.98596448
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.85445785
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.83882592
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.83882592
8MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.71806261
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.69795275
10* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.66395915
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.61079875
12EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.55611993
13* IKZF1_21737484_ChIP-ChIP_HCT116_Human2.54248691
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53375813
15* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52583228
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.48257107
17* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46456272
18* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.41492729
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.34221814
20GBX2_23144817_ChIP-Seq_PC3_Human2.32280479
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.26592804
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.21559322
23* REST_18959480_ChIP-ChIP_MESCs_Mouse2.17231105
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.17157739
25* EZH2_27304074_Chip-Seq_ESCs_Mouse2.02346539
26THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.89937818
27* ERG_21242973_ChIP-ChIP_JURKAT_Human1.77809487
28ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70825123
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62590443
30AR_21572438_ChIP-Seq_LNCaP_Human1.56904187
31KDM2B_26808549_Chip-Seq_K562_Human1.56664655
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.53316794
33CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.49366426
34ZNF274_21170338_ChIP-Seq_K562_Hela1.49250204
35CTCF_27219007_Chip-Seq_Bcells_Human1.49129945
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.45053186
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.42736662
38* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.40661909
39TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36916451
40AR_19668381_ChIP-Seq_PC3_Human1.35538955
41* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.34992759
42SMAD4_21799915_ChIP-Seq_A2780_Human1.34335167
43GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31855320
44* SMC4_20622854_ChIP-Seq_HELA_Human1.31804738
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.29649709
46KDM2B_26808549_Chip-Seq_DND41_Human1.27870617
47* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.26622662
48TP53_16413492_ChIP-PET_HCT116_Human1.24972089
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23764742
50* OCT4_19829295_ChIP-Seq_ESCs_Human1.23761354
51WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20752506
52* P68_20966046_ChIP-Seq_HELA_Human1.20335802
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.17789088
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.17096485
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.15649922
56SOX2_21211035_ChIP-Seq_LN229_Gbm1.14483989
57RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13833560
58ZFP281_18757296_ChIP-ChIP_E14_Mouse1.12587754
59CTBP2_25329375_ChIP-Seq_LNCAP_Human1.11826289
60CREB1_26743006_Chip-Seq_LNCaP_Human1.11582880
61TET1_21490601_ChIP-Seq_MESCs_Mouse1.11109113
62RXR_22108803_ChIP-Seq_LS180_Human1.08818709
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.08296989
64STAT3_23295773_ChIP-Seq_U87_Human1.08209929
65SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07416320
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.07214436
67AR_25329375_ChIP-Seq_VCAP_Human1.06341810
68SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04953333
69* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.04929169
70SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.04437755
71* RING1B_27294783_Chip-Seq_NPCs_Mouse1.04145147
72PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03979223
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02325378
74GATA1_26923725_Chip-Seq_HPCs_Mouse1.02282535
75CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02152272
76ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00965099
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99284813
78SMAD3_21741376_ChIP-Seq_ESCs_Human0.99070069
79* KDM2B_26808549_Chip-Seq_JURKAT_Human0.97649484
80TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96670677
81KDM2B_26808549_Chip-Seq_SUP-B15_Human0.96318470
82TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96310493
83CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96143063
84TCF4_23295773_ChIP-Seq_U87_Human0.95081466
85* DPY_21335234_ChIP-Seq_ESCs_Mouse0.94617798
86CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.94596957
87YAP1_20516196_ChIP-Seq_MESCs_Mouse0.94552924
88CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93848686
89ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.93751308
90RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.93637276
91TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.93271404
92* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.93222723
93SMAD4_21741376_ChIP-Seq_HESCs_Human0.92141433
94PIAS1_25552417_ChIP-Seq_VCAP_Human0.91461091
95PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91052635
96BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.89800383
97TP53_23651856_ChIP-Seq_MEFs_Mouse0.89268876
98* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.89259241
99SMAD4_21741376_ChIP-Seq_ESCs_Human0.88710859
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87690296
101ARNT_22903824_ChIP-Seq_MCF-7_Human0.87622403
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87530995
103MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.86425143
104SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.85459954
105P53_22127205_ChIP-Seq_FIBROBLAST_Human0.84815542
106SMAD3_21741376_ChIP-Seq_HESCs_Human0.84709990
107OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.84363645
108SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.84228353
109TP53_20018659_ChIP-ChIP_R1E_Mouse0.84157408
110KLF4_19829295_ChIP-Seq_ESCs_Human0.84153208
111TCF7_22412390_ChIP-Seq_EML_Mouse0.83928130
112NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.83562803
113KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.83379212
114SMAD3_21741376_ChIP-Seq_EPCs_Human0.83029404
115CTBP1_25329375_ChIP-Seq_LNCAP_Human0.82839076
116SRY_22984422_ChIP-ChIP_TESTIS_Rat0.82576978
117SMAD4_21741376_ChIP-Seq_EPCs_Human0.82446400
118RUNX1_26923725_Chip-Seq_HPCs_Mouse0.82341448
119POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.82073809
120TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82073809
121AHR_22903824_ChIP-Seq_MCF-7_Human0.81593576
122ESR2_21235772_ChIP-Seq_MCF-7_Human0.81354143
123EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.80499088
124VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.80441821
125FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79435444
126UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.79091036
127SA1_27219007_Chip-Seq_ERYTHROID_Human0.79070118
128MYC_19915707_ChIP-ChIP_AK7_Human0.78996919
129* LXR_22292898_ChIP-Seq_THP-1_Human0.77228896
130CTCF_27219007_Chip-Seq_ERYTHROID_Human0.77033086
131* RUNX2_22187159_ChIP-Seq_PCA_Human0.76219066
132TET1_21451524_ChIP-Seq_MESCs_Mouse0.75058098
133RNF2_27304074_Chip-Seq_NSC_Mouse0.74176037
134PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.73741474
135SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.73229269

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.24873463
2MP0009046_muscle_twitch4.85592839
3* MP0003635_abnormal_synaptic_transmissio4.13414083
4MP0008569_lethality_at_weaning3.53754749
5MP0009745_abnormal_behavioral_response3.30009377
6MP0004270_analgesia3.29243670
7MP0002064_seizures3.22225403
8MP0002272_abnormal_nervous_system3.01753911
9MP0002063_abnormal_learning/memory/cond2.97442545
10MP0005423_abnormal_somatic_nervous2.97428471
11MP0003880_abnormal_central_pattern2.86544754
12MP0002572_abnormal_emotion/affect_behav2.68856924
13MP0002734_abnormal_mechanical_nocicepti2.66163209
14MP0001486_abnormal_startle_reflex2.58579033
15MP0001968_abnormal_touch/_nociception2.57490433
16MP0004145_abnormal_muscle_electrophysio2.49343161
17MP0001501_abnormal_sleep_pattern2.43371049
18MP0001440_abnormal_grooming_behavior2.42222260
19MP0002067_abnormal_sensory_capabilities2.38943916
20MP0004885_abnormal_endolymph2.31760007
21MP0003329_amyloid_beta_deposits2.29988956
22MP0002736_abnormal_nociception_after2.05255551
23MP0002184_abnormal_innervation2.01485786
24MP0002735_abnormal_chemical_nociception1.96320941
25MP0002733_abnormal_thermal_nociception1.95749601
26MP0001970_abnormal_pain_threshold1.81723745
27MP0002557_abnormal_social/conspecific_i1.81478124
28MP0002909_abnormal_adrenal_gland1.80653199
29MP0003690_abnormal_glial_cell1.74656498
30MP0005386_behavior/neurological_phenoty1.72319063
31MP0004924_abnormal_behavior1.72319063
32MP0004858_abnormal_nervous_system1.72027377
33MP0002254_reproductive_system_inflammat1.70306812
34MP0004142_abnormal_muscle_tone1.67322627
35MP0002822_catalepsy1.64923885
36MP0001502_abnormal_circadian_rhythm1.64016089
37MP0003633_abnormal_nervous_system1.61798128
38MP0003632_abnormal_nervous_system1.57945149
39MP0009780_abnormal_chondrocyte_physiolo1.56775785
40MP0003879_abnormal_hair_cell1.56341050
41MP0000955_abnormal_spinal_cord1.52802896
42* MP0002066_abnormal_motor_capabilities/c1.52566582
43MP0003631_nervous_system_phenotype1.48033604
44MP0004811_abnormal_neuron_physiology1.41571244
45MP0003123_paternal_imprinting1.38973448
46MP0002882_abnormal_neuron_morphology1.31919285
47MP0004742_abnormal_vestibular_system1.31165490
48MP0004147_increased_porphyrin_level1.31007286
49MP0000778_abnormal_nervous_system1.28587409
50MP0005646_abnormal_pituitary_gland1.24629531
51MP0003283_abnormal_digestive_organ1.23535352
52MP0008872_abnormal_physiological_respon1.22596700
53MP0000920_abnormal_myelination1.20195999
54MP0005645_abnormal_hypothalamus_physiol1.20100079
55MP0001984_abnormal_olfaction1.19763576
56MP0004043_abnormal_pH_regulation1.18746033
57MP0006276_abnormal_autonomic_nervous1.18063371
58MP0000604_amyloidosis1.16019462
59MP0004215_abnormal_myocardial_fiber1.11265891
60MP0001986_abnormal_taste_sensitivity1.11118993
61* MP0002152_abnormal_brain_morphology1.08852807
62MP0001485_abnormal_pinna_reflex1.08260511
63MP0003137_abnormal_impulse_conducting1.06083716
64MP0002229_neurodegeneration1.05507672
65MP0002089_abnormal_postnatal_growth/wei1.03421370
66MP0003045_fibrosis0.99770435
67MP0001905_abnormal_dopamine_level0.99174303
68MP0001299_abnormal_eye_distance/0.95745147
69MP0003634_abnormal_glial_cell0.94840073
70MP0003075_altered_response_to0.94306424
71MP0003122_maternal_imprinting0.94118595
72MP0004510_myositis0.91713999
73MP0005167_abnormal_blood-brain_barrier0.90675109
74MP0000013_abnormal_adipose_tissue0.87864336
75MP0001348_abnormal_lacrimal_gland0.87838780
76MP0001177_atelectasis0.87157187
77MP0002069_abnormal_eating/drinking_beha0.87060460
78MP0008874_decreased_physiological_sensi0.86105952
79MP0000751_myopathy0.84484946
80MP0001346_abnormal_lacrimal_gland0.81043855
81MP0002638_abnormal_pupillary_reflex0.77027237
82MP0001963_abnormal_hearing_physiology0.76943310
83MP0005551_abnormal_eye_electrophysiolog0.75202261
84MP0004085_abnormal_heartbeat0.73751147
85MP0004130_abnormal_muscle_cell0.73613360
86MP0005535_abnormal_body_temperature0.73267923
87MP0005409_darkened_coat_color0.72960307
88MP0008877_abnormal_DNA_methylation0.70326780
89MP0008961_abnormal_basal_metabolism0.68425062
90MP0002249_abnormal_larynx_morphology0.66000868
91MP0001188_hyperpigmentation0.65327631
92MP0003787_abnormal_imprinting0.64499883
93MP0003172_abnormal_lysosome_physiology0.63186926
94MP0004233_abnormal_muscle_weight0.61923466
95MP0004484_altered_response_of0.61721706
96MP0010769_abnormal_survival0.61477970
97MP0005083_abnormal_biliary_tract0.60053326
98MP0000569_abnormal_digit_pigmentation0.59146461
99MP0001765_abnormal_ion_homeostasis0.58523522
100MP0002752_abnormal_somatic_nervous0.58438724
101MP0005623_abnormal_meninges_morphology0.57563652
102MP0010768_mortality/aging0.57329757
103MP0005187_abnormal_penis_morphology0.56440145
104MP0000747_muscle_weakness0.55308033
105MP0010770_preweaning_lethality0.54419526
106MP0002082_postnatal_lethality0.54419526
107MP0003646_muscle_fatigue0.53956187
108MP0006072_abnormal_retinal_apoptosis0.53860243
109MP0000639_abnormal_adrenal_gland0.52719140
110MP0000681_abnormal_thyroid_gland0.52285211
111MP0002090_abnormal_vision0.52220749
112MP0000579_abnormal_nail_morphology0.51705533
113MP0003183_abnormal_peptide_metabolism0.51398829
114MP0000026_abnormal_inner_ear0.51108848
115MP0003956_abnormal_body_size0.50520118
116MP0001943_abnormal_respiration0.49997097
117MP0005377_hearing/vestibular/ear_phenot0.49455890
118MP0003878_abnormal_ear_physiology0.49455890
119MP0005166_decreased_susceptibility_to0.47217250
120MP0001731_abnormal_postnatal_growth0.46734492

Predicted human phenotypes

RankGene SetZ-score
1Action tremor (HP:0002345)7.04044898
2Progressive cerebellar ataxia (HP:0002073)6.49238663
3Focal motor seizures (HP:0011153)6.20626483
4Myokymia (HP:0002411)5.95453791
5Visual hallucinations (HP:0002367)5.69398750
6Focal seizures (HP:0007359)5.36635953
7Gaze-evoked nystagmus (HP:0000640)5.19594954
8Hemiplegia (HP:0002301)4.83157317
9Dysdiadochokinesis (HP:0002075)4.65153040
10Scanning speech (HP:0002168)4.53867474
11Dysmetric saccades (HP:0000641)4.46378025
12Obstructive sleep apnea (HP:0002870)4.44640573
13Impaired smooth pursuit (HP:0007772)4.35606734
14Diplopia (HP:0000651)4.28836200
15Abnormality of binocular vision (HP:0011514)4.28836200
16Atonic seizures (HP:0010819)4.24817752
17Hemiparesis (HP:0001269)4.17714108
18Intention tremor (HP:0002080)4.17002387
19Febrile seizures (HP:0002373)4.07966379
20Abnormality of ocular smooth pursuit (HP:0000617)4.04866843
21Epileptic encephalopathy (HP:0200134)3.98217697
22Cerebral hypomyelination (HP:0006808)3.92643169
23Genetic anticipation (HP:0003743)3.90806714
24Dysmetria (HP:0001310)3.82619031
25Tetraplegia (HP:0002445)3.76592795
26Broad-based gait (HP:0002136)3.69109199
27Truncal ataxia (HP:0002078)3.63026115
28Absence seizures (HP:0002121)3.60655448
29Annular pancreas (HP:0001734)3.46225847
30Poor eye contact (HP:0000817)3.46188729
31Status epilepticus (HP:0002133)3.42462702
32Generalized tonic-clonic seizures (HP:0002069)3.35070963
33Depression (HP:0000716)3.23532070
34Abnormality of the lower motor neuron (HP:0002366)3.23004111
35Impaired social interactions (HP:0000735)3.22016176
36Abnormal social behavior (HP:0012433)3.22016176
37Supranuclear gaze palsy (HP:0000605)3.21816539
38Dialeptic seizures (HP:0011146)3.19905470
39Limb dystonia (HP:0002451)3.17244496
40Postural tremor (HP:0002174)3.06052017
41Megalencephaly (HP:0001355)3.01982315
42Ventricular fibrillation (HP:0001663)2.97868281
43Abnormality of saccadic eye movements (HP:0000570)2.95324021
44Akinesia (HP:0002304)2.92082435
45Anxiety (HP:0000739)2.85364611
46Postural instability (HP:0002172)2.85187648
47Limb ataxia (HP:0002070)2.83581831
48Sleep apnea (HP:0010535)2.79740333
49Abnormal eating behavior (HP:0100738)2.68423978
50Delusions (HP:0000746)2.62391139
51Neurofibrillary tangles (HP:0002185)2.60043132
52Choreoathetosis (HP:0001266)2.56966704
53Aplasia involving bones of the upper limbs (HP:0009823)2.56765313
54Aplasia of the phalanges of the hand (HP:0009802)2.56765313
55Aplasia involving bones of the extremities (HP:0009825)2.56765313
56Impaired vibration sensation in the lower limbs (HP:0002166)2.56719086
57Bundle branch block (HP:0011710)2.54450784
58Horizontal nystagmus (HP:0000666)2.53967427
59Lower limb muscle weakness (HP:0007340)2.52331479
60Peripheral hypomyelination (HP:0007182)2.50553987
61Stereotypic behavior (HP:0000733)2.47055684
62Oligodactyly (hands) (HP:0001180)2.43142840
63Confusion (HP:0001289)2.43016028
64Rapidly progressive (HP:0003678)2.41968469
65Gait ataxia (HP:0002066)2.41478955
66Craniofacial dystonia (HP:0012179)2.41302953
67Split foot (HP:0001839)2.40117734
68Ankle clonus (HP:0011448)2.38622612
69Pointed chin (HP:0000307)2.34869433
70Lower limb asymmetry (HP:0100559)2.32656247
71Neuronal loss in central nervous system (HP:0002529)2.31355263
72Spastic gait (HP:0002064)2.30472740
73CNS hypomyelination (HP:0003429)2.29376109
74Spinal canal stenosis (HP:0003416)2.27591833
75Agitation (HP:0000713)2.26362494
76Apathy (HP:0000741)2.26013646
77Urinary bladder sphincter dysfunction (HP:0002839)2.20186451
78Abnormality of the corticospinal tract (HP:0002492)2.16055626
79Heart block (HP:0012722)2.15558669
80Cerebral inclusion bodies (HP:0100314)2.10661623
81Psychosis (HP:0000709)2.06747353
82Mutism (HP:0002300)2.05730566
83Bradykinesia (HP:0002067)2.05387978
84Amblyopia (HP:0000646)2.03607755
85Amyotrophic lateral sclerosis (HP:0007354)2.02162977
86Diminished motivation (HP:0000745)1.99643657
87Ocular albinism (HP:0001107)1.99598670
88Increased circulating renin level (HP:0000848)1.98580115
89Clonus (HP:0002169)1.97534110
90Abnormal atrioventricular conduction (HP:0005150)1.96468088
91Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.95101524
92Degeneration of the lateral corticospinal tracts (HP:0002314)1.95101524
93Slow progression (HP:0003677)1.94670065
94Myotonia (HP:0002486)1.93096477
95Impaired vibratory sensation (HP:0002495)1.92524824
96Incomplete penetrance (HP:0003829)1.87546084
97Iris hypopigmentation (HP:0007730)1.86114376
98Morphological abnormality of the pyramidal tract (HP:0002062)1.86018402
99Hypoplastic nipples (HP:0002557)1.85461206
100Rigidity (HP:0002063)1.84558396
101Insomnia (HP:0100785)1.84547886
102EEG with generalized epileptiform discharges (HP:0011198)1.84544274
103Turricephaly (HP:0000262)1.81941890
104Epileptiform EEG discharges (HP:0011182)1.81649131
105Hypsarrhythmia (HP:0002521)1.80854921
106Neoplasm of the heart (HP:0100544)1.80215002
107Bronchomalacia (HP:0002780)1.77781914
108Urinary urgency (HP:0000012)1.77160694
109Spastic tetraparesis (HP:0001285)1.76631698
110Torticollis (HP:0000473)1.75218662
111Atrioventricular block (HP:0001678)1.75159069
112Drooling (HP:0002307)1.73310179
113Excessive salivation (HP:0003781)1.73310179
114Focal dystonia (HP:0004373)1.72490723
115Upper limb amyotrophy (HP:0009129)1.70782097
116Distal upper limb amyotrophy (HP:0007149)1.70782097
117Papilledema (HP:0001085)1.68316955
118Hand muscle atrophy (HP:0009130)1.67384325
119Broad metatarsal (HP:0001783)1.64205838
120Abnormality of the periventricular white matter (HP:0002518)1.62891842
121Prolonged QT interval (HP:0001657)1.62849345
122Hyperventilation (HP:0002883)1.62011547
123Fetal akinesia sequence (HP:0001989)1.61621654
124Synostosis involving the elbow (HP:0003938)1.61541155
125Humeroradial synostosis (HP:0003041)1.61541155

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.88314789
2CAMKK23.52146823
3RIPK13.18887353
4MAP3K93.06371783
5EPHA42.93832474
6CAMKK12.74579881
7NTRK22.58574523
8MINK12.41651214
9MAP3K42.39926234
10DAPK22.39371339
11PAK62.22927613
12STK382.22225290
13WNK12.15937494
14TNIK2.15309690
15PRKD31.85701874
16RIPK41.82711760
17PRPF4B1.79415339
18MAP2K41.75767322
19CDK191.67809249
20MAP2K71.64619057
21MARK11.62609349
22TYRO31.57342853
23KSR21.56411757
24NTRK11.49269708
25SGK21.37730884
26PRKCG1.37484050
27CDK51.36872669
28SGK31.35793883
29SGK2231.34221667
30SGK4941.34221667
31LATS21.33677674
32MAP3K131.30413622
33PINK11.29690440
34PHKG21.28202645
35PHKG11.28202645
36PRKCH1.24943917
37LMTK21.23072823
38ALK1.23042859
39CAMK11.22620791
40STK111.16464754
41GRK51.13144459
42SIK21.11760596
43CDC42BPA1.09094514
44FGFR21.02427786
45PNCK0.97697268
46KSR10.94104854
47UHMK10.93779930
48CDK150.92711759
49CAMK40.92541215
50CAMK1G0.89755706
51RET0.89199673
52CDK180.88630823
53DYRK1A0.88456700
54BRSK10.88391895
55MAPKAPK50.87595958
56MAP3K20.85873550
57MAPK130.84643411
58OXSR10.84051818
59DAPK10.83144354
60PDK10.82105268
61SGK10.81857205
62EPHB10.81734402
63CAMK2G0.81362247
64TRIB30.81247820
65CDK11A0.80610841
66CASK0.80171593
67PTK60.79943905
68PKN10.76319328
69CAMK2A0.74931359
70PDPK10.74588832
71CDK140.73607650
72CAMK2B0.73001427
73FES0.71933029
74TAOK10.71448342
75TNK20.67242548
76MAP3K110.66818449
77RPS6KA30.66113154
78NEK60.64894843
79BRAF0.61969626
80MARK20.61213176
81MAP3K70.60523638
82PTK20.58449921
83CAMK2D0.57513894
84FYN0.56328391
85DAPK30.53639316
86ROCK20.52614797
87PLK20.51455343
88RAF10.51060911
89PRKG10.50707140
90HIPK20.50500508
91MAPK120.49946342
92LIMK10.49660224
93BMX0.49102247
94MAPK100.46645792
95ICK0.46125731
96EEF2K0.43783471
97PDGFRA0.42940727
98PAK30.41309968
99MUSK0.41028703
100SCYL20.40874369
101BMPR20.40826596
102SRC0.40572639
103MAP3K120.39751432
104PRKDC0.39711351
105PTK2B0.39346150
106PRKCA0.38497968
107MAP3K10.38134756
108ERBB20.37999627
109PRKACA0.37775820
110TAOK20.37115758
111PRKACG0.36405673
112MAPK80.35461809
113ARAF0.34703788
114PRKCZ0.34536126
115ROCK10.33723033
116PRKD10.31737377
117RPS6KA20.31405497
118CDK120.31190454
119IRAK20.30049014
120TESK10.28576226
121CAMK1D0.25739634
122MAP2K60.25367313

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050333.65328596
2* Glutamatergic synapse_Homo sapiens_hsa047242.92881840
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74832347
4GABAergic synapse_Homo sapiens_hsa047272.71470300
5Synaptic vesicle cycle_Homo sapiens_hsa047212.68417314
6* Long-term potentiation_Homo sapiens_hsa047202.60325421
7Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.52604503
8* Circadian entrainment_Homo sapiens_hsa047132.52442188
9Nitrogen metabolism_Homo sapiens_hsa009102.42882105
10Salivary secretion_Homo sapiens_hsa049702.42187865
11Morphine addiction_Homo sapiens_hsa050322.41765339
12Long-term depression_Homo sapiens_hsa047302.30271934
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.25966335
14Olfactory transduction_Homo sapiens_hsa047402.10898629
15Gastric acid secretion_Homo sapiens_hsa049712.10017270
16Taste transduction_Homo sapiens_hsa047422.08818482
17Insulin secretion_Homo sapiens_hsa049111.99458683
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.96130993
19* Amphetamine addiction_Homo sapiens_hsa050311.91232574
20Dopaminergic synapse_Homo sapiens_hsa047281.79663027
21Cholinergic synapse_Homo sapiens_hsa047251.69790747
22Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.69566584
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66722550
24Phosphatidylinositol signaling system_Homo sapiens_hsa040701.58562805
25Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.53589203
26Type II diabetes mellitus_Homo sapiens_hsa049301.50363605
27* Calcium signaling pathway_Homo sapiens_hsa040201.49162521
28Oxytocin signaling pathway_Homo sapiens_hsa049211.48441246
29Pancreatic secretion_Homo sapiens_hsa049721.41332052
30GnRH signaling pathway_Homo sapiens_hsa049121.35884680
31Renin secretion_Homo sapiens_hsa049241.32586574
32Serotonergic synapse_Homo sapiens_hsa047261.28000553
33* cAMP signaling pathway_Homo sapiens_hsa040241.27194538
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23821228
35Vitamin B6 metabolism_Homo sapiens_hsa007501.21502663
36Gap junction_Homo sapiens_hsa045401.20978072
37Thyroid hormone synthesis_Homo sapiens_hsa049181.20662550
38Estrogen signaling pathway_Homo sapiens_hsa049151.19509495
39Carbohydrate digestion and absorption_Homo sapiens_hsa049731.13994362
40Fatty acid biosynthesis_Homo sapiens_hsa000611.08620667
41Bile secretion_Homo sapiens_hsa049761.06255978
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05441704
43Phospholipase D signaling pathway_Homo sapiens_hsa040721.04769050
44* Cocaine addiction_Homo sapiens_hsa050300.96061615
45Prion diseases_Homo sapiens_hsa050200.91021886
46Dorso-ventral axis formation_Homo sapiens_hsa043200.89653188
47Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.89009147
48Cardiac muscle contraction_Homo sapiens_hsa042600.88602684
49Inositol phosphate metabolism_Homo sapiens_hsa005620.87693060
50Melanogenesis_Homo sapiens_hsa049160.87112734
51Circadian rhythm_Homo sapiens_hsa047100.83212329
52Phototransduction_Homo sapiens_hsa047440.81544023
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.81308124
54Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.78362884
55Glioma_Homo sapiens_hsa052140.77972052
56Dilated cardiomyopathy_Homo sapiens_hsa054140.76977886
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74762834
58Choline metabolism in cancer_Homo sapiens_hsa052310.72999621
59ErbB signaling pathway_Homo sapiens_hsa040120.71376258
60Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70971267
61* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.70607498
62Oocyte meiosis_Homo sapiens_hsa041140.68092493
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.67958973
64Vibrio cholerae infection_Homo sapiens_hsa051100.66721918
65MAPK signaling pathway_Homo sapiens_hsa040100.62648678
66Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57389464
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55821593
68Arginine and proline metabolism_Homo sapiens_hsa003300.55355163
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.54673026
70Arginine biosynthesis_Homo sapiens_hsa002200.53982817
71Glucagon signaling pathway_Homo sapiens_hsa049220.53706918
72Axon guidance_Homo sapiens_hsa043600.53609612
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52986980
74mTOR signaling pathway_Homo sapiens_hsa041500.52408659
75Mineral absorption_Homo sapiens_hsa049780.51930738
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.50989057
77VEGF signaling pathway_Homo sapiens_hsa043700.48175391
78Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.47578449
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47231207
80Rap1 signaling pathway_Homo sapiens_hsa040150.46196653
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.44691910
82Collecting duct acid secretion_Homo sapiens_hsa049660.44131346
83Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.43921973
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43821736
85* Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.42945479
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42729519
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41680118
88Endocytosis_Homo sapiens_hsa041440.39960764
89AMPK signaling pathway_Homo sapiens_hsa041520.37475714
90Chemokine signaling pathway_Homo sapiens_hsa040620.37032996
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36127993
92Histidine metabolism_Homo sapiens_hsa003400.34686991
93Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34684420
94African trypanosomiasis_Homo sapiens_hsa051430.34448683
95Ovarian steroidogenesis_Homo sapiens_hsa049130.33703410
96Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.33671579
97HIF-1 signaling pathway_Homo sapiens_hsa040660.31658461
98Proteoglycans in cancer_Homo sapiens_hsa052050.30546167
99Adipocytokine signaling pathway_Homo sapiens_hsa049200.29886913
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29795994
101Non-small cell lung cancer_Homo sapiens_hsa052230.28741745
102Ras signaling pathway_Homo sapiens_hsa040140.28673818
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28074277
104Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27292820
105Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26619120
106ABC transporters_Homo sapiens_hsa020100.26288276
107* Alcoholism_Homo sapiens_hsa050340.25533984
108Insulin signaling pathway_Homo sapiens_hsa049100.24051999
109Endometrial cancer_Homo sapiens_hsa052130.23802026
110Type I diabetes mellitus_Homo sapiens_hsa049400.23438243
111Platelet activation_Homo sapiens_hsa046110.22741870
112Wnt signaling pathway_Homo sapiens_hsa043100.22680509
113Hedgehog signaling pathway_Homo sapiens_hsa043400.19430294
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.19149971

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