PCDHAC2

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 is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.14773441
2synaptic vesicle maturation (GO:0016188)5.92947251
3vocalization behavior (GO:0071625)5.76110968
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.71798068
5locomotory exploration behavior (GO:0035641)5.62913054
6synaptic vesicle exocytosis (GO:0016079)5.62160409
7glutamate secretion (GO:0014047)5.30494895
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.27094049
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.09377211
10regulation of synaptic vesicle exocytosis (GO:2000300)5.00611697
11protein localization to synapse (GO:0035418)4.93069404
12neuron cell-cell adhesion (GO:0007158)4.89853007
13exploration behavior (GO:0035640)4.86719124
14regulation of glutamate receptor signaling pathway (GO:1900449)4.77610917
15layer formation in cerebral cortex (GO:0021819)4.65718782
16neurotransmitter secretion (GO:0007269)4.58771272
17proline transport (GO:0015824)4.52604562
18synaptic vesicle docking involved in exocytosis (GO:0016081)4.50932808
19regulation of synaptic vesicle transport (GO:1902803)4.42446350
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.27692735
21regulation of long-term neuronal synaptic plasticity (GO:0048169)4.25404419
22neuronal action potential propagation (GO:0019227)4.25047269
23regulation of neuronal synaptic plasticity (GO:0048168)4.20290275
24regulation of synapse structural plasticity (GO:0051823)4.18866312
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.08435773
26gamma-aminobutyric acid transport (GO:0015812)3.96410959
27glutamate receptor signaling pathway (GO:0007215)3.92585139
28presynaptic membrane organization (GO:0097090)3.91378064
29synaptic transmission, glutamatergic (GO:0035249)3.85189519
30dendritic spine morphogenesis (GO:0060997)3.84877725
31neuron recognition (GO:0008038)3.78509565
32neurotransmitter-gated ion channel clustering (GO:0072578)3.77876721
33positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.77711873
34neuron-neuron synaptic transmission (GO:0007270)3.77382109
35positive regulation of synapse maturation (GO:0090129)3.77231213
36neurotransmitter transport (GO:0006836)3.74743126
37cell migration in hindbrain (GO:0021535)3.72827629
38cellular potassium ion homeostasis (GO:0030007)3.72087146
39regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.71165682
40positive regulation of dendritic spine morphogenesis (GO:0061003)3.69554611
41activation of protein kinase A activity (GO:0034199)3.60377291
42long-term memory (GO:0007616)3.58054573
43cerebellar Purkinje cell differentiation (GO:0021702)3.56705640
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.56352366
45postsynaptic membrane organization (GO:0001941)3.53932823
46cochlea development (GO:0090102)3.53597939
47positive regulation of membrane potential (GO:0045838)3.51402879
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.50432525
49mating behavior (GO:0007617)3.48033264
50regulation of neurotransmitter levels (GO:0001505)3.47915790
51neuromuscular process controlling posture (GO:0050884)3.47523803
52transmission of nerve impulse (GO:0019226)3.47261935
53sodium ion export (GO:0071436)3.46427813
54regulation of postsynaptic membrane potential (GO:0060078)3.46395349
55synaptic vesicle endocytosis (GO:0048488)3.41709745
56axonal fasciculation (GO:0007413)3.39264588
57dendrite morphogenesis (GO:0048813)3.38622009
58regulation of neurotransmitter secretion (GO:0046928)3.38324306
59regulation of vesicle fusion (GO:0031338)3.37943651
60regulation of synaptic plasticity (GO:0048167)3.36065150
61innervation (GO:0060384)3.35863225
62cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.35778155
63detection of calcium ion (GO:0005513)3.35353916
64neuronal ion channel clustering (GO:0045161)3.33950329
65neuromuscular process controlling balance (GO:0050885)3.32394663
66synapse assembly (GO:0007416)3.29210528
67regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.28753415
68cellular sodium ion homeostasis (GO:0006883)3.27022810
69gamma-aminobutyric acid signaling pathway (GO:0007214)3.22614207
70membrane depolarization during action potential (GO:0086010)3.20607023
71regulation of dendritic spine morphogenesis (GO:0061001)3.20159932
72negative regulation of synaptic transmission, GABAergic (GO:0032229)3.19316670
73regulation of synaptic transmission, glutamatergic (GO:0051966)3.18173412
74cell communication by electrical coupling (GO:0010644)3.17621262
75vesicle transport along microtubule (GO:0047496)3.14227777
76long-term synaptic potentiation (GO:0060291)3.12697702
77regulation of neurotransmitter transport (GO:0051588)3.12057342
78positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.11612311
79organelle transport along microtubule (GO:0072384)3.11544131
80negative regulation of microtubule polymerization (GO:0031115)3.10102473
81intraspecies interaction between organisms (GO:0051703)3.08508266
82social behavior (GO:0035176)3.08508266
83auditory behavior (GO:0031223)3.06339332
84membrane depolarization (GO:0051899)3.04960021
85positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.04556317
86positive regulation of synaptic transmission, GABAergic (GO:0032230)3.02499458
87learning (GO:0007612)3.02187790
88L-amino acid import (GO:0043092)3.01910357
89membrane hyperpolarization (GO:0060081)3.01768415
90presynaptic membrane assembly (GO:0097105)3.01132687
91response to histamine (GO:0034776)3.01127270
92cell communication involved in cardiac conduction (GO:0086065)3.00978454
93response to auditory stimulus (GO:0010996)2.99955872
94amino acid import (GO:0043090)2.99374561
95regulation of synapse maturation (GO:0090128)2.98754150
96positive regulation of potassium ion transmembrane transport (GO:1901381)2.98627725
97neuromuscular process (GO:0050905)2.97825676
98positive regulation of neurotransmitter transport (GO:0051590)2.97723002
99G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.97550067
100behavioral defense response (GO:0002209)2.94920424
101behavioral fear response (GO:0001662)2.94920424
102synaptic transmission (GO:0007268)2.93436436
103synapse organization (GO:0050808)2.93383049
104cerebellar granule cell differentiation (GO:0021707)2.92270966
105G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.92246456
106potassium ion homeostasis (GO:0055075)2.91741869
107axon cargo transport (GO:0008088)2.90355454
108regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.90063351
109regulation of synaptic transmission (GO:0050804)2.88447634
110regulation of dendritic spine development (GO:0060998)2.87102544
111adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.87007011
112potassium ion import (GO:0010107)2.86570277
113fear response (GO:0042596)2.86071958
114positive regulation of dendritic spine development (GO:0060999)2.85769846
115positive regulation of neurotransmitter secretion (GO:0001956)2.85619797
116serotonin metabolic process (GO:0042428)2.83051611
117regulation of voltage-gated calcium channel activity (GO:1901385)2.77990304
118negative regulation of dendrite morphogenesis (GO:0050774)2.74869716
119chemosensory behavior (GO:0007635)2.74059313
120regulation of ARF protein signal transduction (GO:0032012)2.73154369
121cerebellar Purkinje cell layer development (GO:0021680)2.66832139
122mechanosensory behavior (GO:0007638)2.64777299

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.95604891
2GBX2_23144817_ChIP-Seq_PC3_Human3.62857431
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.20532849
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.09932663
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.08013345
6REST_21632747_ChIP-Seq_MESCs_Mouse2.79351776
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.72090187
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.72090187
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63344414
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.61881129
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.54509410
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53952739
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53355300
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.51577043
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.50609957
16DROSHA_22980978_ChIP-Seq_HELA_Human2.38341098
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.37565554
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.28266219
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.21183609
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.20903611
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20220108
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.14446537
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.13276100
24AR_21572438_ChIP-Seq_LNCaP_Human2.09735198
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.05101952
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.04495989
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.02028666
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.89988249
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88457170
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.87545237
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.80746806
32TAF15_26573619_Chip-Seq_HEK293_Human1.79293797
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72477629
34SMAD4_21799915_ChIP-Seq_A2780_Human1.72373137
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62025797
36ZNF274_21170338_ChIP-Seq_K562_Hela1.60497721
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.57645021
38RBPJ_22232070_ChIP-Seq_NCS_Mouse1.55744873
39NR3C1_23031785_ChIP-Seq_PC12_Mouse1.54487310
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52346840
41SALL1_21062744_ChIP-ChIP_HESCs_Human1.48698323
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.46157332
43VDR_22108803_ChIP-Seq_LS180_Human1.40689076
44* P300_19829295_ChIP-Seq_ESCs_Human1.39727107
45IGF1R_20145208_ChIP-Seq_DFB_Human1.39116139
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38312945
47* SOX2_21211035_ChIP-Seq_LN229_Gbm1.36859152
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.32872520
49AR_25329375_ChIP-Seq_VCAP_Human1.32639687
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32137819
51MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.31644736
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.30863630
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.29577721
54RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.27989525
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27265256
56RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.27227590
57CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26460804
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.25981965
59CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.24531577
60STAT3_23295773_ChIP-Seq_U87_Human1.24498722
61AR_19668381_ChIP-Seq_PC3_Human1.24079239
62* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20424011
63SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19819004
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.19161652
65SOX9_26525672_Chip-Seq_HEART_Mouse1.18807071
66ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.18701627
67DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18221502
68PIAS1_25552417_ChIP-Seq_VCAP_Human1.18118184
69TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17529594
70GATA1_26923725_Chip-Seq_HPCs_Mouse1.17032389
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.12257663
72WT1_25993318_ChIP-Seq_PODOCYTE_Human1.11027581
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10736900
74* RNF2_27304074_Chip-Seq_NSC_Mouse1.09971484
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09966636
76FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.09272160
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.08882486
78YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08777785
79TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.08425894
80ARNT_22903824_ChIP-Seq_MCF-7_Human1.08405371
81ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07082392
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.07041217
83POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06631747
84TCF4_23295773_ChIP-Seq_U87_Human1.06367184
85AHR_22903824_ChIP-Seq_MCF-7_Human1.06006185
86TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04994446
87P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04882027
88WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03895893
89KDM2B_26808549_Chip-Seq_K562_Human1.03714193
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03695531
91TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02957256
92GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02046501
93* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.01025458
94TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99202425
95EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.98111932
96P53_22387025_ChIP-Seq_ESCs_Mouse0.97688353
97RUNX2_22187159_ChIP-Seq_PCA_Human0.97639444
98PRDM14_20953172_ChIP-Seq_ESCs_Human0.97612121
99KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97225705
100EP300_21415370_ChIP-Seq_HL-1_Mouse0.96420057
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96087475
102* SMAD3_21741376_ChIP-Seq_ESCs_Human0.96023526
103JUN_21703547_ChIP-Seq_K562_Human0.95776717
104* SMAD4_21741376_ChIP-Seq_HESCs_Human0.95493523
105TP53_16413492_ChIP-PET_HCT116_Human0.94269038
106NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92241439
107UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90926496
108FUS_26573619_Chip-Seq_HEK293_Human0.90368318
109BCAT_22108803_ChIP-Seq_LS180_Human0.89357189
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88981082
111RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88863894
112TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88281785
113POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88281785
114CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87917812
115TP53_18474530_ChIP-ChIP_U2OS_Human0.85472369
116ER_23166858_ChIP-Seq_MCF-7_Human0.84150096

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.16025579
2MP0003880_abnormal_central_pattern4.19389635
3MP0004270_analgesia4.15921766
4MP0003635_abnormal_synaptic_transmissio4.11198989
5MP0009745_abnormal_behavioral_response3.31060279
6MP0009046_muscle_twitch3.30847287
7MP0002063_abnormal_learning/memory/cond3.28541760
8MP0001968_abnormal_touch/_nociception3.18964326
9MP0002064_seizures3.05907651
10MP0002734_abnormal_mechanical_nocicepti3.00477654
11MP0002735_abnormal_chemical_nociception2.90588661
12MP0002572_abnormal_emotion/affect_behav2.81267497
13MP0005423_abnormal_somatic_nervous2.77545359
14MP0003123_paternal_imprinting2.76505820
15MP0002272_abnormal_nervous_system2.58059479
16MP0006276_abnormal_autonomic_nervous2.52641941
17MP0002736_abnormal_nociception_after2.47123245
18MP0002822_catalepsy2.43619692
19MP0002733_abnormal_thermal_nociception2.42154949
20MP0001501_abnormal_sleep_pattern2.40435704
21MP0001486_abnormal_startle_reflex2.39791772
22MP0004858_abnormal_nervous_system2.21421060
23MP0001440_abnormal_grooming_behavior2.19513504
24MP0001970_abnormal_pain_threshold2.18422635
25MP0002184_abnormal_innervation2.07965583
26MP0002067_abnormal_sensory_capabilities2.04612771
27MP0009780_abnormal_chondrocyte_physiolo2.03703358
28MP0003329_amyloid_beta_deposits2.01461656
29MP0000778_abnormal_nervous_system1.96283130
30MP0008877_abnormal_DNA_methylation1.94002150
31MP0005386_behavior/neurological_phenoty1.90076563
32MP0004924_abnormal_behavior1.90076563
33MP0003121_genomic_imprinting1.86483108
34MP0004811_abnormal_neuron_physiology1.86055391
35MP0008569_lethality_at_weaning1.85344181
36MP0002557_abnormal_social/conspecific_i1.81449883
37MP0002909_abnormal_adrenal_gland1.73714819
38MP0000955_abnormal_spinal_cord1.63946676
39MP0003879_abnormal_hair_cell1.48034042
40MP0002882_abnormal_neuron_morphology1.47656076
41MP0005645_abnormal_hypothalamus_physiol1.45459756
42MP0002066_abnormal_motor_capabilities/c1.43648593
43MP0002938_white_spotting1.43260743
44MP0001984_abnormal_olfaction1.42903837
45MP0005646_abnormal_pituitary_gland1.40490769
46MP0003122_maternal_imprinting1.35489866
47MP0001529_abnormal_vocalization1.31900980
48MP0000566_synostosis1.30593362
49MP0001905_abnormal_dopamine_level1.29144082
50MP0003787_abnormal_imprinting1.28792483
51MP0004885_abnormal_endolymph1.28590007
52MP0003633_abnormal_nervous_system1.27091643
53MP0004142_abnormal_muscle_tone1.25950609
54MP0001188_hyperpigmentation1.21057838
55MP0000569_abnormal_digit_pigmentation1.19670124
56MP0000647_abnormal_sebaceous_gland1.16649987
57MP0002152_abnormal_brain_morphology1.12408390
58MP0003631_nervous_system_phenotype1.11200011
59MP0001346_abnormal_lacrimal_gland1.07673221
60MP0001502_abnormal_circadian_rhythm1.07345201
61MP0001986_abnormal_taste_sensitivity1.05149514
62MP0002229_neurodegeneration0.99279015
63MP0010386_abnormal_urinary_bladder0.98642269
64MP0000579_abnormal_nail_morphology0.98029277
65MP0008872_abnormal_physiological_respon0.95797291
66MP0003119_abnormal_digestive_system0.95064464
67MP0002837_dystrophic_cardiac_calcinosis0.94538757
68MP0004145_abnormal_muscle_electrophysio0.94492291
69MP0000751_myopathy0.93818712
70MP0000604_amyloidosis0.92159290
71MP0005551_abnormal_eye_electrophysiolog0.91162972
72MP0004085_abnormal_heartbeat0.89657668
73MP0001348_abnormal_lacrimal_gland0.88480213
74MP0005535_abnormal_body_temperature0.88003290
75MP0003634_abnormal_glial_cell0.87751907
76MP0002069_abnormal_eating/drinking_beha0.87641355
77MP0005253_abnormal_eye_physiology0.86174960
78MP0008874_decreased_physiological_sensi0.85845357
79MP0003632_abnormal_nervous_system0.83270623
80MP0006072_abnormal_retinal_apoptosis0.82925366
81MP0000427_abnormal_hair_cycle0.81155326
82MP0002752_abnormal_somatic_nervous0.80966405
83MP0004742_abnormal_vestibular_system0.80183318
84MP0002102_abnormal_ear_morphology0.79047559
85MP0006292_abnormal_olfactory_placode0.77616318
86MP0001177_atelectasis0.77040405
87MP0000013_abnormal_adipose_tissue0.76031174
88MP0001963_abnormal_hearing_physiology0.75784173
89MP0005394_taste/olfaction_phenotype0.74207234
90MP0005499_abnormal_olfactory_system0.74207234
91MP0004215_abnormal_myocardial_fiber0.72241471
92MP0004484_altered_response_of0.70548904
93MP0000631_abnormal_neuroendocrine_gland0.70532724
94MP0005187_abnormal_penis_morphology0.70023570
95MP0004233_abnormal_muscle_weight0.68632196
96MP0002638_abnormal_pupillary_reflex0.68046479
97MP0002090_abnormal_vision0.67305200
98MP0002751_abnormal_autonomic_nervous0.66627535
99MP0001299_abnormal_eye_distance/0.65461718
100MP0004133_heterotaxia0.64927039
101MP0005409_darkened_coat_color0.64800106
102MP0000462_abnormal_digestive_system0.61479053
103MP0003861_abnormal_nervous_system0.61250203
104MP0000920_abnormal_myelination0.60906177
105MP0002928_abnormal_bile_duct0.59520943
106MP0005623_abnormal_meninges_morphology0.59349408
107MP0001943_abnormal_respiration0.58907773
108MP0001485_abnormal_pinna_reflex0.58467032
109MP0003137_abnormal_impulse_conducting0.58098312
110MP0002234_abnormal_pharynx_morphology0.57683828
111MP0003283_abnormal_digestive_organ0.57373941
112MP0008961_abnormal_basal_metabolism0.56161401
113MP0010769_abnormal_survival0.55759840
114MP0002876_abnormal_thyroid_physiology0.54677574
115MP0001664_abnormal_digestion0.54521255
116MP0010770_preweaning_lethality0.54416766
117MP0002082_postnatal_lethality0.54416766
118MP0003172_abnormal_lysosome_physiology0.54029795
119MP0003690_abnormal_glial_cell0.52137087
120MP0010768_mortality/aging0.51989774

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.02640508
2Myokymia (HP:0002411)6.80741250
3Focal seizures (HP:0007359)5.60486405
4Visual hallucinations (HP:0002367)5.32267289
5Epileptic encephalopathy (HP:0200134)4.63187003
6Progressive cerebellar ataxia (HP:0002073)4.62616868
7Atonic seizures (HP:0010819)4.55150554
8Action tremor (HP:0002345)4.52460551
9Febrile seizures (HP:0002373)4.25216483
10Absence seizures (HP:0002121)4.15499379
11Supranuclear gaze palsy (HP:0000605)3.82649609
12Generalized tonic-clonic seizures (HP:0002069)3.79322099
13Dialeptic seizures (HP:0011146)3.70088826
14Mutism (HP:0002300)3.60359147
15Ankle clonus (HP:0011448)3.54681643
16Broad-based gait (HP:0002136)3.49063728
17Papilledema (HP:0001085)3.29378006
18Poor eye contact (HP:0000817)3.28658636
19Urinary bladder sphincter dysfunction (HP:0002839)3.27430412
20Impaired vibration sensation in the lower limbs (HP:0002166)3.20421066
21Insidious onset (HP:0003587)3.19826452
22Termporal pattern (HP:0011008)3.19826452
23Truncal ataxia (HP:0002078)3.18762993
24Gaze-evoked nystagmus (HP:0000640)3.18062769
25Hyperventilation (HP:0002883)3.17061266
26Impaired social interactions (HP:0000735)3.12281991
27Abnormal social behavior (HP:0012433)3.12281991
28Depression (HP:0000716)3.08144570
29Abnormality of the corticospinal tract (HP:0002492)3.03947086
30Amblyopia (HP:0000646)3.02646699
31Genetic anticipation (HP:0003743)2.97838909
32Dysdiadochokinesis (HP:0002075)2.97432317
33Anxiety (HP:0000739)2.96964441
34Pheochromocytoma (HP:0002666)2.93143433
35Excessive salivation (HP:0003781)2.91327915
36Drooling (HP:0002307)2.91327915
37Limb dystonia (HP:0002451)2.90581440
38Urinary urgency (HP:0000012)2.87462271
39Hepatoblastoma (HP:0002884)2.86701470
40Dysmetria (HP:0001310)2.82819589
41Abnormal eating behavior (HP:0100738)2.76809567
42Progressive inability to walk (HP:0002505)2.76146808
43Postural instability (HP:0002172)2.72732489
44Cerebral inclusion bodies (HP:0100314)2.69554634
45Impaired smooth pursuit (HP:0007772)2.65775148
46Spastic gait (HP:0002064)2.65491323
47Diplopia (HP:0000651)2.64454334
48Abnormality of binocular vision (HP:0011514)2.64454334
49Torticollis (HP:0000473)2.61121562
50Scanning speech (HP:0002168)2.57731668
51Neurofibrillary tangles (HP:0002185)2.56385034
52Neuroendocrine neoplasm (HP:0100634)2.54201690
53Epileptiform EEG discharges (HP:0011182)2.54169854
54Amyotrophic lateral sclerosis (HP:0007354)2.52132458
55Agitation (HP:0000713)2.50933830
56Fetal akinesia sequence (HP:0001989)2.48757112
57EEG with generalized epileptiform discharges (HP:0011198)2.48240067
58Abnormality of the lower motor neuron (HP:0002366)2.43827929
59Hemiparesis (HP:0001269)2.42103183
60Bradykinesia (HP:0002067)2.40534987
61Hypsarrhythmia (HP:0002521)2.38749947
62Focal dystonia (HP:0004373)2.37870273
63Hyperphosphatemia (HP:0002905)2.34657015
64Polyphagia (HP:0002591)2.31620812
65Inability to walk (HP:0002540)2.31549859
66Abnormality of ocular smooth pursuit (HP:0000617)2.30172229
67Akinesia (HP:0002304)2.28757573
68Lower limb muscle weakness (HP:0007340)2.26506636
69Stereotypic behavior (HP:0000733)2.26245918
70Absent speech (HP:0001344)2.25088181
71Dysmetric saccades (HP:0000641)2.24743926
72Intention tremor (HP:0002080)2.18360178
73Craniofacial dystonia (HP:0012179)2.17118032
74Hemiplegia (HP:0002301)2.16616009
75Inappropriate behavior (HP:0000719)2.15857012
76Megalencephaly (HP:0001355)2.15408123
77Impaired vibratory sensation (HP:0002495)2.14362238
78Aqueductal stenosis (HP:0002410)2.13207634
79Status epilepticus (HP:0002133)2.06354629
80Generalized myoclonic seizures (HP:0002123)2.05927322
81Ventricular fibrillation (HP:0001663)2.02468558
82Neoplasm of the peripheral nervous system (HP:0100007)1.97328101
83Aplasia/Hypoplasia of the brainstem (HP:0007362)1.95895247
84Hypoplasia of the brainstem (HP:0002365)1.95895247
85Morphological abnormality of the pyramidal tract (HP:0002062)1.95843322
86Abnormality of salivation (HP:0100755)1.95810962
87Hypoventilation (HP:0002791)1.94829843
88Degeneration of the lateral corticospinal tracts (HP:0002314)1.94742036
89Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94742036
90Failure to thrive in infancy (HP:0001531)1.94554082
91Obstructive sleep apnea (HP:0002870)1.93669195
92Sleep apnea (HP:0010535)1.92718194
93Apathy (HP:0000741)1.92097614
94Gait ataxia (HP:0002066)1.89046156
95Postural tremor (HP:0002174)1.88540141
96Neoplasm of the adrenal cortex (HP:0100641)1.88001200
97Hyperthyroidism (HP:0000836)1.87518349
98Delusions (HP:0000746)1.87425578
99Clonus (HP:0002169)1.86908670
100Ulnar claw (HP:0001178)1.85244381
101Neuronal loss in central nervous system (HP:0002529)1.84271548
102Abnormality of pain sensation (HP:0010832)1.84098503
103Impaired pain sensation (HP:0007328)1.84098503
104Psychosis (HP:0000709)1.84056312
105Poor suck (HP:0002033)1.83230732
106Lower limb amyotrophy (HP:0007210)1.82948981
107Heterochromia iridis (HP:0001100)1.82623429
108Hypothermia (HP:0002045)1.82607485
109Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.82263796
110Incomplete penetrance (HP:0003829)1.81508559
111Unilateral renal agenesis (HP:0000122)1.81260673
112Abnormality of the labia minora (HP:0012880)1.78761051
113Absent eyebrow (HP:0002223)1.77474379
114Gait imbalance (HP:0002141)1.75476384
115Cutaneous finger syndactyly (HP:0010554)1.74467879
116Abnormal pancreas size (HP:0012094)1.73958721
117Menstrual irregularities (HP:0000858)1.72732925
118Bundle branch block (HP:0011710)1.72309258
119Alacrima (HP:0000522)1.62704269
120Blue irides (HP:0000635)1.62035078
121Muscular hypotonia of the trunk (HP:0008936)1.57421334
122Disproportionate short-trunk short stature (HP:0003521)1.57243123
123Thyroid-stimulating hormone excess (HP:0002925)1.56386549
124Increased circulating renin level (HP:0000848)1.55821935
125Hypoplasia of the corpus callosum (HP:0002079)1.55490245
126Abnormality of calcium-phosphate metabolism (HP:0100530)1.54955714
127Cerebral hypomyelination (HP:0006808)1.54824160
128Spastic tetraparesis (HP:0001285)1.54482397
129Hyperinsulinemic hypoglycemia (HP:0000825)1.54454094
130Spastic tetraplegia (HP:0002510)1.53066341

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.64724198
2MARK14.27799124
3MAP3K94.14109233
4MAP3K43.30525688
5MINK13.14281636
6EPHA42.89305581
7MAP2K72.71556922
8NTRK12.42368690
9PAK62.21890601
10MAP3K122.19307612
11DAPK22.13847625
12MAP2K42.06355659
13NTRK22.03661433
14KSR21.95162399
15CASK1.94986403
16CAMKK11.71289313
17LATS21.71272437
18FRK1.67541827
19PNCK1.66499452
20MKNK21.64788134
21PLK21.58535909
22GRK51.55194023
23FGFR21.53281057
24MAPK131.52507551
25CDK51.52133906
26KSR11.51588697
27PHKG11.46972146
28PHKG21.46972146
29RIPK41.45840879
30PRKD31.41740635
31DAPK11.39993920
32PRKCG1.24682612
33MAP3K21.23287526
34STK38L1.23146536
35SIK21.21159160
36STK381.16576648
37CAMKK21.15113495
38CDK191.14382224
39TSSK61.11236681
40RET1.09268422
41CSNK1G21.03016069
42UHMK11.01103649
43CAMK2A1.00888596
44NEK91.00711958
45TNIK0.98976319
46PRPF4B0.98241869
47LMTK20.97414520
48FES0.96002445
49ARAF0.92403690
50SCYL20.92301347
51CDK140.91345415
52CDK180.90062763
53CDK150.87782283
54WNK40.87362382
55PAK30.86686744
56TAOK10.84200694
57MET0.83279459
58STK110.81365075
59TYRO30.80512683
60CDK11A0.75596232
61SGK2230.74897131
62SGK4940.74897131
63CAMK10.74039675
64PRKCH0.72610630
65MAP4K20.69060243
66GRK10.68862065
67ALK0.67932323
68DYRK1A0.67587106
69SGK20.65138586
70MARK20.64559397
71MKNK10.64014110
72STK240.63988535
73NEK60.63885756
74CSNK1G10.61855671
75NEK10.61288815
76ZAK0.59716992
77ERBB20.59261465
78SGK10.58981777
79CAMK2B0.58956737
80PRKCZ0.57784863
81RPS6KA20.57032886
82PTK2B0.56748765
83SGK30.56326579
84CSNK1E0.55752280
85PDK10.55501565
86ADRBK20.53646912
87BCR0.53453809
88CAMK1G0.52779805
89MAP3K60.52190250
90PRKCE0.51568972
91OXSR10.51412388
92RAF10.51383500
93DYRK20.51351968
94MAP3K130.50901552
95STK390.50663726
96CSNK1G30.49777084
97CCNB10.49511681
98CAMK40.49484747
99PDPK10.48569701
100WNK10.48486516
101MAP2K10.47738411
102FER0.47288798
103FYN0.46075263
104RIPK10.45943127
105TRIM280.45844564
106RPS6KA30.45328592
107PLK30.45082188
108TLK10.43576448
109PRKDC0.43326366
110ROCK10.42902651
111PRKAA10.42579178
112BRSK10.42330047
113MAP3K10.42215413
114CSNK1D0.41879990
115BMPR20.41569610
116LIMK10.40686528
117WNK30.39906551
118GRK70.39663334
119MAPK100.39525125
120PDK30.39172266
121PDK40.39172266
122ERBB30.38958587
123FGR0.38151557
124CAMK2G0.37326782
125MAPK120.37053498
126PINK10.35507208
127CAMK2D0.34816583
128ADRBK10.34356246
129CDC42BPA0.33665286

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.52161525
2Synaptic vesicle cycle_Homo sapiens_hsa047213.44248942
3Olfactory transduction_Homo sapiens_hsa047402.61770470
4Long-term potentiation_Homo sapiens_hsa047202.61140215
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.60293525
6Circadian entrainment_Homo sapiens_hsa047132.59693120
7GABAergic synapse_Homo sapiens_hsa047272.57885250
8Glutamatergic synapse_Homo sapiens_hsa047242.46624183
9Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.41367811
10Amphetamine addiction_Homo sapiens_hsa050312.35575136
11Morphine addiction_Homo sapiens_hsa050322.32196539
12Dopaminergic synapse_Homo sapiens_hsa047282.29665743
13Salivary secretion_Homo sapiens_hsa049702.16187595
14Cholinergic synapse_Homo sapiens_hsa047251.98317458
15Insulin secretion_Homo sapiens_hsa049111.93700769
16Serotonergic synapse_Homo sapiens_hsa047261.84132394
17Gastric acid secretion_Homo sapiens_hsa049711.83472396
18Taste transduction_Homo sapiens_hsa047421.82533110
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.79121278
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78439816
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.74416657
22Long-term depression_Homo sapiens_hsa047301.74061974
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70433855
24Renin secretion_Homo sapiens_hsa049241.69474128
25Oxytocin signaling pathway_Homo sapiens_hsa049211.59981321
26Cocaine addiction_Homo sapiens_hsa050301.59526742
27Collecting duct acid secretion_Homo sapiens_hsa049661.52888593
28Calcium signaling pathway_Homo sapiens_hsa040201.47813530
29GnRH signaling pathway_Homo sapiens_hsa049121.44610774
30Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.44537609
31Gap junction_Homo sapiens_hsa045401.41739654
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.37530900
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35576716
34Estrogen signaling pathway_Homo sapiens_hsa049151.25551442
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24273435
36Axon guidance_Homo sapiens_hsa043601.23385894
37Vitamin B6 metabolism_Homo sapiens_hsa007501.22832289
38Type II diabetes mellitus_Homo sapiens_hsa049301.19491095
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17569040
40Glioma_Homo sapiens_hsa052141.17041768
41cAMP signaling pathway_Homo sapiens_hsa040241.14712046
42ErbB signaling pathway_Homo sapiens_hsa040121.06025135
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.05050450
44Phototransduction_Homo sapiens_hsa047441.04352660
45Melanogenesis_Homo sapiens_hsa049161.04214741
46Steroid biosynthesis_Homo sapiens_hsa001001.02188441
47Vibrio cholerae infection_Homo sapiens_hsa051101.00816220
48cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00484010
49Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.96726273
50Cardiac muscle contraction_Homo sapiens_hsa042600.95573860
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95506006
52Oocyte meiosis_Homo sapiens_hsa041140.95189719
53Circadian rhythm_Homo sapiens_hsa047100.91431987
54Dorso-ventral axis formation_Homo sapiens_hsa043200.88813079
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.86318018
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83752952
57Thyroid hormone synthesis_Homo sapiens_hsa049180.80540655
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78516271
59Neurotrophin signaling pathway_Homo sapiens_hsa047220.77976537
60Pancreatic secretion_Homo sapiens_hsa049720.77838479
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.77448626
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74904585
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73799665
64Fatty acid biosynthesis_Homo sapiens_hsa000610.73109855
65MAPK signaling pathway_Homo sapiens_hsa040100.69512208
66Hippo signaling pathway_Homo sapiens_hsa043900.69442076
67VEGF signaling pathway_Homo sapiens_hsa043700.66909730
68Choline metabolism in cancer_Homo sapiens_hsa052310.66807982
69Dilated cardiomyopathy_Homo sapiens_hsa054140.66310873
70Tight junction_Homo sapiens_hsa045300.65485195
71Protein export_Homo sapiens_hsa030600.63879636
72Glucagon signaling pathway_Homo sapiens_hsa049220.61417896
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.58682201
74Ras signaling pathway_Homo sapiens_hsa040140.58352596
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.57632860
76Endometrial cancer_Homo sapiens_hsa052130.57335170
77mTOR signaling pathway_Homo sapiens_hsa041500.57002632
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56823017
79Alcoholism_Homo sapiens_hsa050340.54150707
80beta-Alanine metabolism_Homo sapiens_hsa004100.53884539
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51779055
82Bile secretion_Homo sapiens_hsa049760.51754350
83Rap1 signaling pathway_Homo sapiens_hsa040150.51329382
84Hedgehog signaling pathway_Homo sapiens_hsa043400.50978288
85Insulin signaling pathway_Homo sapiens_hsa049100.49502892
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.48907559
87Alzheimers disease_Homo sapiens_hsa050100.48267512
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48058475
89Nitrogen metabolism_Homo sapiens_hsa009100.47887532
90AMPK signaling pathway_Homo sapiens_hsa041520.47620774
91Endocytosis_Homo sapiens_hsa041440.46967716
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45009717
93Renal cell carcinoma_Homo sapiens_hsa052110.44094773
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43627697
95Prion diseases_Homo sapiens_hsa050200.43003337
96Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42202797
97Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.40858051
98Type I diabetes mellitus_Homo sapiens_hsa049400.40652678
99Inositol phosphate metabolism_Homo sapiens_hsa005620.40371667
100Non-small cell lung cancer_Homo sapiens_hsa052230.39481754
101Colorectal cancer_Homo sapiens_hsa052100.39441837
102Wnt signaling pathway_Homo sapiens_hsa043100.39328530
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.39054918
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38976667
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38358390
106Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37317504
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37026145
108Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35522550
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.34717997
110Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34676119
111Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34174241
112Mineral absorption_Homo sapiens_hsa049780.32380424
113Ovarian steroidogenesis_Homo sapiens_hsa049130.31495951
114African trypanosomiasis_Homo sapiens_hsa051430.31385516
115Arginine and proline metabolism_Homo sapiens_hsa003300.31200162
116Pyruvate metabolism_Homo sapiens_hsa006200.29526333
117Prolactin signaling pathway_Homo sapiens_hsa049170.27032262
118SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26349322
119Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.26344842
120Butanoate metabolism_Homo sapiens_hsa006500.26274522
121Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.24381274
122TGF-beta signaling pathway_Homo sapiens_hsa043500.23335609
123Regulation of autophagy_Homo sapiens_hsa041400.22515453

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »