PCDHGB3

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 gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)3.85305713
2extracellular matrix assembly (GO:0085029)3.66753608
3regulation of transforming growth factor beta2 production (GO:0032909)3.54401241
4negative regulation of activin receptor signaling pathway (GO:0032926)3.52506736
5skin morphogenesis (GO:0043589)3.50474767
6cell-substrate junction assembly (GO:0007044)3.43488230
7pericardium development (GO:0060039)3.39619487
8cell migration involved in heart development (GO:0060973)3.29579197
9blood vessel maturation (GO:0001955)3.28300357
10chondrocyte proliferation (GO:0035988)3.28292109
11protein heterotrimerization (GO:0070208)3.25955178
12venous blood vessel morphogenesis (GO:0048845)3.24676909
13sequestering of extracellular ligand from receptor (GO:0035581)3.23062898
14endodermal cell differentiation (GO:0035987)3.21087213
15cell adhesion mediated by integrin (GO:0033627)3.19086778
16regulation of chemokine-mediated signaling pathway (GO:0070099)3.15561528
17vascular endothelial growth factor signaling pathway (GO:0038084)3.11154162
18negative regulation of osteoblast proliferation (GO:0033689)3.10233183
19negative regulation of protein localization to cell surface (GO:2000009)3.08482166
20cardiac myofibril assembly (GO:0055003)3.05057974
21mesenchymal-epithelial cell signaling (GO:0060638)3.04213396
22hemidesmosome assembly (GO:0031581)3.03810372
23cell-substrate adherens junction assembly (GO:0007045)3.03529480
24focal adhesion assembly (GO:0048041)3.03529480
25insulin-like growth factor receptor signaling pathway (GO:0048009)2.95601305
26cell migration involved in sprouting angiogenesis (GO:0002042)2.91599041
27endocardial cushion development (GO:0003197)2.89048920
28positive regulation of cardiac muscle cell differentiation (GO:2000727)2.85511459
29kidney mesenchyme development (GO:0072074)2.84948508
30neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.84488083
31substrate-dependent cell migration (GO:0006929)2.83365707
32regulation of axon extension involved in axon guidance (GO:0048841)2.77931500
33negative regulation of smooth muscle cell migration (GO:0014912)2.74810249
34adherens junction assembly (GO:0034333)2.74550722
35positive regulation of blood vessel endothelial cell migration (GO:0043536)2.71632405
36negative regulation of keratinocyte proliferation (GO:0010839)2.69087626
37regulation of protein localization to cell surface (GO:2000008)2.69006715
38positive regulation of fibroblast migration (GO:0010763)2.68208841
39interkinetic nuclear migration (GO:0022027)2.67662057
40regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.65544586
41positive regulation of cardiac muscle hypertrophy (GO:0010613)2.65284244
42positive regulation of muscle hypertrophy (GO:0014742)2.65284244
43lymphangiogenesis (GO:0001946)2.64291717
44dermatan sulfate biosynthetic process (GO:0030208)2.64139330
45glomerular basement membrane development (GO:0032836)2.63124865
46negative regulation of fatty acid transport (GO:2000192)2.58788742
47COPII vesicle coating (GO:0048208)2.57787283
48bone trabecula formation (GO:0060346)2.56598958
49dermatan sulfate metabolic process (GO:0030205)2.56294756
50myofibril assembly (GO:0030239)2.54017904
51regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.53938241
52peripheral nervous system axon ensheathment (GO:0032292)2.52885117
53myelination in peripheral nervous system (GO:0022011)2.52885117
54regulation of extracellular matrix disassembly (GO:0010715)2.52441647
55type B pancreatic cell proliferation (GO:0044342)2.49702474
56regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.49529891
57retina vasculature morphogenesis in camera-type eye (GO:0061299)2.49054856
58basement membrane organization (GO:0071711)2.48897300
59histone-serine phosphorylation (GO:0035404)2.48758620
60metanephric mesenchyme development (GO:0072075)2.48563962
61cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.47756837
62hypotonic response (GO:0006971)2.47112073
63regulation of cardiac muscle cell differentiation (GO:2000725)2.45637860
64substrate adhesion-dependent cell spreading (GO:0034446)2.45407837
65positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.44333814
66negative regulation of chondrocyte differentiation (GO:0032331)2.44272769
67Golgi transport vesicle coating (GO:0048200)2.43640409
68COPI coating of Golgi vesicle (GO:0048205)2.43640409
69gland morphogenesis (GO:0022612)2.42280538
70regulation of sarcomere organization (GO:0060297)2.42233799
71regulation of alkaline phosphatase activity (GO:0010692)2.41887724
72regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.40117859
73collagen metabolic process (GO:0032963)2.39733238
74mitochondrion distribution (GO:0048311)2.38826143
75actin filament depolymerization (GO:0030042)2.36914648
76semaphorin-plexin signaling pathway (GO:0071526)2.35720288
77lipid translocation (GO:0034204)2.35490870
78phospholipid translocation (GO:0045332)2.35490870
79regulation of axon guidance (GO:1902667)2.33791788
80cellular response to vitamin (GO:0071295)2.32996014
81sphingosine metabolic process (GO:0006670)2.32902760
82regulation of protein polyubiquitination (GO:1902914)2.32840101
83cytoskeletal anchoring at plasma membrane (GO:0007016)2.31936018
84hippo signaling (GO:0035329)2.31835976
85regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.31376979
86fibroblast migration (GO:0010761)2.30621430
87positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.29792532
88smooth muscle tissue development (GO:0048745)2.29336017
89heart morphogenesis (GO:0003007)2.28670447
90extracellular matrix disassembly (GO:0022617)2.28352256
91extracellular fibril organization (GO:0043206)2.27049577
92positive regulation of axon extension (GO:0045773)2.25586868
93protein targeting to plasma membrane (GO:0072661)2.24666212
94collagen catabolic process (GO:0030574)2.24460587
95extracellular matrix organization (GO:0030198)2.24230840
96multicellular organismal macromolecule metabolic process (GO:0044259)2.23456407
97extracellular structure organization (GO:0043062)2.23244039
98glomerular visceral epithelial cell development (GO:0072015)2.23184955
99negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.23174124
100chondroitin sulfate biosynthetic process (GO:0030206)2.23134088

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human2.79585461
2SMAD_19615063_ChIP-ChIP_OVARY_Human2.76584015
3ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.69060213
4TRIM28_21343339_ChIP-Seq_HEK293_Human2.65809648
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.61867514
6EP300_21415370_ChIP-Seq_HL-1_Mouse2.50076899
7ZNF217_24962896_ChIP-Seq_MCF-7_Human2.41270096
8BRD4_25478319_ChIP-Seq_HGPS_Human2.25101170
9EZH2_22144423_ChIP-Seq_EOC_Human2.14127922
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.09634848
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.07948655
12WT1_19549856_ChIP-ChIP_CCG9911_Human2.03335117
13RARG_19884340_ChIP-ChIP_MEFs_Mouse1.99693750
14CJUN_26792858_Chip-Seq_BT549_Human1.93630051
15CDX2_19796622_ChIP-Seq_MESCs_Mouse1.92228448
16CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.91538048
17CTNNB1_20460455_ChIP-Seq_HCT116_Human1.87086163
18GBX2_23144817_ChIP-Seq_PC3_Human1.85181021
19TP53_16413492_ChIP-PET_HCT116_Human1.82867380
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.79398348
21PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.78499708
22EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.72939284
23SOX9_24532713_ChIP-Seq_HFSC_Mouse1.72789301
24AHR_22903824_ChIP-Seq_MCF-7_Human1.71831865
25SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.70521184
26PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66602856
27GATA2_21666600_ChIP-Seq_HMVEC_Human1.66268608
28PIAS1_25552417_ChIP-Seq_VCAP_Human1.66126698
29TP53_18474530_ChIP-ChIP_U2OS_Human1.65846623
30ARNT_22903824_ChIP-Seq_MCF-7_Human1.62962669
31CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.59404635
32TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57255379
33NFIB_24661679_ChIP-Seq_LUNG_Mouse1.56039162
34NRF2_20460467_ChIP-Seq_MEFs_Mouse1.54472260
35NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.54472260
36AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52317269
37STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.51599615
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.51297889
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.49496892
40TBX20_22328084_ChIP-Seq_HEART_Mouse1.47722661
41TBX20_22080862_ChIP-Seq_HEART_Mouse1.47722661
42WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.44813550
43ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.44630677
44NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.44451311
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44185339
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.43476550
47MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.42942596
48SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.40473358
49DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.39239524
50* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.35300609
51* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.35300609
52CLOCK_20551151_ChIP-Seq_293T_Human1.34755606
53SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.34070870
54RNF2_18974828_ChIP-Seq_MESCs_Mouse1.33271560
55EZH2_18974828_ChIP-Seq_MESCs_Mouse1.33271560
56WT1_25993318_ChIP-Seq_PODOCYTE_Human1.33048462
57EED_16625203_ChIP-ChIP_MESCs_Mouse1.32189368
58ISL1_27105846_Chip-Seq_CPCs_Mouse1.32078422
59YAP1_20516196_ChIP-Seq_MESCs_Mouse1.31931782
60TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.27698042
61AR_21572438_ChIP-Seq_LNCaP_Human1.25846169
62SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.25371026
63SMAD4_21799915_ChIP-Seq_A2780_Human1.25023120
64SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.24271494
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.23070926
66PPAR_26484153_Chip-Seq_NCI-H1993_Human1.21130450
67FOXA2_19822575_ChIP-Seq_HepG2_Human1.21019323
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.19716820
69GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.19617862
70NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.18550930
71GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16612195
72RNF2_27304074_Chip-Seq_ESCs_Mouse1.16549683
73ESR1_20079471_ChIP-ChIP_T-47D_Human1.15819703
74EGR1_19374776_ChIP-ChIP_THP-1_Human1.15463205
75RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15391614
76SMAD3_21741376_ChIP-Seq_HESCs_Human1.13743055
77TP53_23651856_ChIP-Seq_MEFs_Mouse1.13317535
78MTF2_20144788_ChIP-Seq_MESCs_Mouse1.13217902
79STAT3_23295773_ChIP-Seq_U87_Human1.12782163
80FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.12462871
81EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11082493
82PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.10618696
83RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.08657576
84P300_27058665_Chip-Seq_ZR-75-30cells_Human1.05239053
85ZFP57_27257070_Chip-Seq_ESCs_Mouse1.05226715
86DROSHA_22980978_ChIP-Seq_HELA_Human1.03248551
87FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.03100450
88TBX3_20139965_ChIP-Seq_ESCs_Mouse1.02621133
89TBX3_20139965_ChIP-Seq_MESCs_Mouse1.02504503
90UBF1/2_26484160_Chip-Seq_HMECs_Human1.01298470
91TP53_22127205_ChIP-Seq_IMR90_Human1.01294308
92JARID2_20064375_ChIP-Seq_MESCs_Mouse0.99049119
93HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.98130926
94SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97654771
95JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97501788
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97497191
97NR3C1_23031785_ChIP-Seq_PC12_Mouse0.93849492
98TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.93778134
99TP63_23658742_ChIP-Seq_EP156T_Human0.93462767
100ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92973508

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.06237933
2MP0003705_abnormal_hypodermis_morpholog4.71553985
3MP0003279_aneurysm3.88287887
4MP0005503_abnormal_tendon_morphology3.69982040
5MP0005275_abnormal_skin_tensile3.49789857
6MP0004272_abnormal_basement_membrane3.42180485
7MP0010368_abnormal_lymphatic_system3.01507785
8MP0001958_emphysema2.96073041
9MP0003566_abnormal_cell_adhesion2.78513515
10MP0000751_myopathy2.71635398
11MP0003950_abnormal_plasma_membrane2.50333768
12MP0009384_cardiac_valve_regurgitation2.44185469
13MP0005257_abnormal_intraocular_pressure2.32718267
14MP0005623_abnormal_meninges_morphology2.30711914
15MP0003091_abnormal_cell_migration2.07614863
16MP0008057_abnormal_DNA_replication2.00815554
17MP0000767_abnormal_smooth_muscle1.97344326
18MP0006054_spinal_hemorrhage1.97245830
19MP0002108_abnormal_muscle_morphology1.93429736
20MP0010352_gastrointestinal_tract_polyps1.91634168
21MP0000534_abnormal_ureter_morphology1.82869057
22MP0004084_abnormal_cardiac_muscle1.73027361
23MP0009780_abnormal_chondrocyte_physiolo1.70136791
24MP0009053_abnormal_anal_canal1.62982249
25MP0000013_abnormal_adipose_tissue1.61348289
26MP0002896_abnormal_bone_mineralization1.56747658
27MP0005023_abnormal_wound_healing1.56273066
28MP0001348_abnormal_lacrimal_gland1.54674145
29MP0004036_abnormal_muscle_relaxation1.53531053
30MP0000733_abnormal_muscle_development1.51261433
31MP0009250_abnormal_appendicular_skeleto1.51062308
32MP0003941_abnormal_skin_development1.50398316
33MP0001299_abnormal_eye_distance/1.46994256
34MP0000569_abnormal_digit_pigmentation1.42619584
35MP0005076_abnormal_cell_differentiation1.40100278
36MP0002295_abnormal_pulmonary_circulatio1.38344712
37MP0010386_abnormal_urinary_bladder1.37328367
38MP0001879_abnormal_lymphatic_vessel1.35526723
39MP0003942_abnormal_urinary_system1.32185975
40MP0001542_abnormal_bone_strength1.32002097
41MP0000749_muscle_degeneration1.31446670
42MP0003045_fibrosis1.31258246
43MP0005508_abnormal_skeleton_morphology1.29186063
44MP0004134_abnormal_chest_morphology1.26833862
45MP0002168_other_aberrant_phenotype1.22058199
46MP0005409_darkened_coat_color1.21371825
47MP0000428_abnormal_craniofacial_morphol1.17779403
48MP0005595_abnormal_vascular_smooth1.15360799
49MP0004858_abnormal_nervous_system1.12911682
50MP0001915_intracranial_hemorrhage1.11333486
51MP0002877_abnormal_melanocyte_morpholog1.10538344
52MP0000759_abnormal_skeletal_muscle1.10184714
53MP0006138_congestive_heart_failure1.08274221
54MP0003385_abnormal_body_wall1.07690958
55MP0002060_abnormal_skin_morphology1.07264790
56MP0002128_abnormal_blood_circulation1.03492389
57MP0004233_abnormal_muscle_weight1.02844222
58MP0000462_abnormal_digestive_system1.02431681
59MP0003868_abnormal_feces_composition1.00573266
60MP0000432_abnormal_head_morphology0.99046012
61MP0004145_abnormal_muscle_electrophysio0.98352891
62MP0001849_ear_inflammation0.97361192
63MP0002127_abnormal_cardiovascular_syste0.94248066
64MP0003935_abnormal_craniofacial_develop0.93055978
65MP0010030_abnormal_orbit_morphology0.92314978
66MP0000537_abnormal_urethra_morphology0.90936102
67MP0000003_abnormal_adipose_tissue0.89323673
68MP0004087_abnormal_muscle_fiber0.86554968
69MP0000538_abnormal_urinary_bladder0.86397774
70MP0002925_abnormal_cardiovascular_devel0.83519311
71MP0000762_abnormal_tongue_morphology0.82246369
72MP0002115_abnormal_skeleton_extremities0.81711567
73MP0005620_abnormal_muscle_contractility0.80799117
74MP0010630_abnormal_cardiac_muscle0.80533783
75MP0005621_abnormal_cell_physiology0.79699156
76MP0001661_extended_life_span0.78992591
77MP0001614_abnormal_blood_vessel0.78433422
78MP0004510_myositis0.73361736
79MP0005369_muscle_phenotype0.72989847
80MP0001243_abnormal_dermal_layer0.72376598
81MP0000163_abnormal_cartilage_morphology0.69583443
82MP0000266_abnormal_heart_morphology0.68113456
83MP0005187_abnormal_penis_morphology0.67905798
84MP0005171_absent_coat_pigmentation0.67765258
85MP0004808_abnormal_hematopoietic_stem0.67335008
86MP0002254_reproductive_system_inflammat0.66757300
87MP0003828_pulmonary_edema0.66742771
88MP0004215_abnormal_myocardial_fiber0.65284711
89MP0002269_muscular_atrophy0.64900250
90MP0002116_abnormal_craniofacial_bone0.64882130
91MP0002109_abnormal_limb_morphology0.63208387
92MP0000613_abnormal_salivary_gland0.62515666
93MP0005197_abnormal_uvea_morphology0.62513568
94MP0000747_muscle_weakness0.60885571
95MP0005670_abnormal_white_adipose0.60434763
96MP0003755_abnormal_palate_morphology0.60361676
97MP0003115_abnormal_respiratory_system0.59372396
98MP0000750_abnormal_muscle_regeneration0.58729949
99MP0001175_abnormal_lung_morphology0.57138302
100MP0005330_cardiomyopathy0.56264689

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)5.30180013
2Aortic aneurysm (HP:0004942)5.04569274
3Premature rupture of membranes (HP:0001788)4.94317288
4Aortic dissection (HP:0002647)4.80685775
5Vascular tortuosity (HP:0004948)4.56330227
6Arterial tortuosity (HP:0005116)4.40666895
7Follicular hyperkeratosis (HP:0007502)3.74344574
8Ankle contracture (HP:0006466)3.67879760
9Type 1 muscle fiber predominance (HP:0003803)3.62825246
10Spondylolisthesis (HP:0003302)3.45881145
11Overgrowth (HP:0001548)3.45704533
12Shallow orbits (HP:0000586)3.36537467
13Bladder diverticulum (HP:0000015)3.29316154
14Abnormality of dentin (HP:0010299)3.13713986
15Broad metatarsal (HP:0001783)3.07051187
16Atrophic scars (HP:0001075)3.03853793
17Spinal rigidity (HP:0003306)2.93033342
18Wormian bones (HP:0002645)2.89846472
19Cerebral aneurysm (HP:0004944)2.88198385
20Mitral valve prolapse (HP:0001634)2.86987129
21Abnormality of the lower motor neuron (HP:0002366)2.86217089
22Bowel diverticulosis (HP:0005222)2.83279587
23Osteolytic defects of the hand bones (HP:0009699)2.82939258
24Osteolytic defects of the phalanges of the hand (HP:0009771)2.82939258
25Soft skin (HP:0000977)2.77771630
26Upper motor neuron abnormality (HP:0002127)2.71642476
27Cervical subluxation (HP:0003308)2.68415820
28Neonatal short-limb short stature (HP:0008921)2.67734395
29Broad ribs (HP:0000885)2.67559766
30Broad face (HP:0000283)2.59510188
31Conjunctival telangiectasia (HP:0000524)2.56480911
32Joint laxity (HP:0001388)2.54391404
33Increased variability in muscle fiber diameter (HP:0003557)2.51626935
34Aneurysm (HP:0002617)2.48666555
35Genu recurvatum (HP:0002816)2.40505240
36Hyperacusis (HP:0010780)2.36063298
37Mild short stature (HP:0003502)2.34006887
38Mildly elevated creatine phosphokinase (HP:0008180)2.29959957
39Slender build (HP:0001533)2.25397061
40Aortic regurgitation (HP:0001659)2.23538120
41Dilatation of the ascending aorta (HP:0005111)2.22372812
42Fragile skin (HP:0001030)2.19971582
43Hypoventilation (HP:0002791)2.19619284
44Wide anterior fontanel (HP:0000260)2.19600927
45Long eyelashes (HP:0000527)2.18526721
46Blue sclerae (HP:0000592)2.17014972
47Camptodactyly of toe (HP:0001836)2.14218097
48Relative macrocephaly (HP:0004482)2.12240431
49Hyporeflexia of lower limbs (HP:0002600)2.11823548
50Biconcave vertebral bodies (HP:0004586)2.10435419
51Mitral regurgitation (HP:0001653)2.09552325
52Abnormality of skeletal muscle fiber size (HP:0012084)2.04409032
53Hyperextensible skin (HP:0000974)2.02775409
54Vertebral arch anomaly (HP:0008438)2.02634238
55Elbow flexion contracture (HP:0002987)1.98408440
56Absent frontal sinuses (HP:0002688)1.98335476
57Aortic valve stenosis (HP:0001650)1.98304027
58Ulnar bowing (HP:0003031)1.95086734
59Abnormality of the vasculature of the conjunctiva (HP:0008054)1.94786457
60Tibial bowing (HP:0002982)1.93935622
61Obstructive sleep apnea (HP:0002870)1.93900523
62Renovascular hypertension (HP:0100817)1.93587275
63Flat cornea (HP:0007720)1.93333050
64Degeneration of anterior horn cells (HP:0002398)1.93267725
65Abnormality of the anterior horn cell (HP:0006802)1.93267725
66Abnormality of the acetabulum (HP:0003170)1.91954437
67Bundle branch block (HP:0011710)1.89532525
68Persistence of primary teeth (HP:0006335)1.88701084
69Amyotrophic lateral sclerosis (HP:0007354)1.87374062
70Renal duplication (HP:0000075)1.86704978
71Thoracolumbar scoliosis (HP:0002944)1.85993700
72Narrow palate (HP:0000189)1.84980481
73Limited hip movement (HP:0008800)1.84773657
74Knee flexion contracture (HP:0006380)1.82162506
75Increased connective tissue (HP:0009025)1.80858327
76Spinal cord lesions (HP:0100561)1.79489542
77Syringomyelia (HP:0003396)1.79489542
78Gaze-evoked nystagmus (HP:0000640)1.79210191
79Sudden death (HP:0001699)1.74805418
80Long toe (HP:0010511)1.71232211
81Protruding ear (HP:0000411)1.69801908
82Natal tooth (HP:0000695)1.69561071
83Short nail (HP:0001799)1.68954490
84Bradycardia (HP:0001662)1.68675804
85Hallux valgus (HP:0001822)1.68290695
86Deviation of the hallux (HP:0010051)1.67262951
87Disproportionate tall stature (HP:0001519)1.66798590
88Abnormality of the calf musculature (HP:0001430)1.64594036
89Joint contractures involving the joints of the feet (HP:0100492)1.64374200
90Flexion contracture of toe (HP:0005830)1.64374200
91Vertebral compression fractures (HP:0002953)1.64338560
92Hip contracture (HP:0003273)1.63714188
93Broad long bones (HP:0005622)1.62465494
94Hypoplasia of the iris (HP:0007676)1.61468739
95Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.61022654
96Inguinal hernia (HP:0000023)1.60381969
97Mitral stenosis (HP:0001718)1.58058293
98Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.57264695
99Delayed closure of the anterior fontanelle (HP:0001476)1.56800548
100Joint stiffness (HP:0001387)1.56647501

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NEK94.01518497
2PDGFRA3.58279645
3MYLK3.55147676
4TTN3.43046192
5TRIB32.48467791
6LATS12.44516229
7CAMK1G2.36478487
8CDK122.33400723
9AKT32.21940478
10CAMK1D2.18279571
11DMPK2.12344675
12PAK22.09228380
13DDR22.08829215
14EEF2K2.05027394
15PRKD22.00400382
16EPHB21.88667215
17TRPM71.82815080
18PTK21.80002927
19NTRK11.75110645
20CDK61.68829963
21SIK11.50617797
22ICK1.47348558
23PDGFRB1.46572926
24TGFBR21.45751896
25RIPK11.44133654
26LATS21.40595211
27MTOR1.37028968
28STK31.21925304
29MAP3K71.21184276
30PIK3CG1.18146436
31SGK21.16385651
32SCYL21.14228650
33CDC42BPA1.14149374
34SGK31.10434925
35FLT31.07346491
36PIK3CA1.04513505
37KIT1.01729654
38MET0.99261215
39WNK10.98570392
40PAK30.97468155
41ERN10.96546484
42TAOK10.96521384
43STK380.95511007
44STK38L0.87022513
45PRKD30.85641707
46RPS6KA20.85163058
47ROCK10.84556829
48PRPF4B0.82156243
49MAP3K60.82022329
50CDK40.80793132
51EPHA30.77241150
52MAP3K100.77004026
53PKN20.76930450
54MAP2K10.75712565
55MARK20.75665865
56JAK10.75528515
57MAPK70.75144425
58PNCK0.74687428
59LIMK10.73250875
60PRKD10.73075221
61STK40.71729758
62SGK4940.71622227
63SGK2230.71622227
64FGFR40.67787655
65PRKAA10.67177068
66TESK10.66391495
67ERBB40.65843720
68FER0.65611754
69CSF1R0.61169179
70TIE10.60893582
71MAP3K30.59764409
72MARK10.56598640
73CASK0.55010109
74ROCK20.54874222
75EPHB10.54318632
76PINK10.54013326
77PRKAA20.50994666
78CAMK10.50514636
79MELK0.49875233
80FGFR30.48118564
81INSRR0.48061493
82PRKCH0.45108188
83SMG10.43853325
84RPS6KC10.41812255
85RPS6KL10.41812255
86OBSCN0.41524599
87RET0.41502040
88ILK0.38956688
89MAPK100.38835570
90TAOK20.36478424
91BCR0.36135089
92MAPK120.35829333
93MAPK10.35787935
94PRKCE0.35027072
95INSR0.34635790
96PHKG10.33786005
97PHKG20.33786005
98PTK2B0.33731069
99GSK3A0.33409517
100AKT10.33360154

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.29692812
2Focal adhesion_Homo sapiens_hsa045102.63476822
3Dilated cardiomyopathy_Homo sapiens_hsa054142.54325447
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.47388031
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.30481600
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.25999767
7Proteoglycans in cancer_Homo sapiens_hsa052051.71583558
8AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.62760405
9Adherens junction_Homo sapiens_hsa045201.61913915
10Lysine degradation_Homo sapiens_hsa003101.53022927
11MicroRNAs in cancer_Homo sapiens_hsa052061.52096851
12Small cell lung cancer_Homo sapiens_hsa052221.49735203
13cGMP-PKG signaling pathway_Homo sapiens_hsa040221.49707398
14Vascular smooth muscle contraction_Homo sapiens_hsa042701.48266158
15Amoebiasis_Homo sapiens_hsa051461.44537881
16Chronic myeloid leukemia_Homo sapiens_hsa052201.44281275
17Thyroid hormone signaling pathway_Homo sapiens_hsa049191.40947242
18Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.35762410
19Regulation of actin cytoskeleton_Homo sapiens_hsa048101.33133139
20Notch signaling pathway_Homo sapiens_hsa043301.29396904
21Glioma_Homo sapiens_hsa052141.29284459
22Melanoma_Homo sapiens_hsa052181.29026340
23Protein digestion and absorption_Homo sapiens_hsa049741.28959394
24Phospholipase D signaling pathway_Homo sapiens_hsa040721.24044570
25Endometrial cancer_Homo sapiens_hsa052131.21829088
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.21589788
27Prostate cancer_Homo sapiens_hsa052151.18798714
28Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.14984030
29TGF-beta signaling pathway_Homo sapiens_hsa043501.14210410
30PI3K-Akt signaling pathway_Homo sapiens_hsa041511.13681155
31Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.12746590
32Hippo signaling pathway_Homo sapiens_hsa043901.10772199
33Platelet activation_Homo sapiens_hsa046111.09999588
34Estrogen signaling pathway_Homo sapiens_hsa049151.09666781
35Thyroid hormone synthesis_Homo sapiens_hsa049181.05959843
36Pancreatic cancer_Homo sapiens_hsa052121.05247411
37Glycosaminoglycan degradation_Homo sapiens_hsa005311.05002288
38Bladder cancer_Homo sapiens_hsa052191.04406391
39Gap junction_Homo sapiens_hsa045401.04028288
40Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.03178786
41Melanogenesis_Homo sapiens_hsa049161.02868481
42Oxytocin signaling pathway_Homo sapiens_hsa049211.02626531
43Renin secretion_Homo sapiens_hsa049241.02502381
44Non-small cell lung cancer_Homo sapiens_hsa052231.01455145
45Phosphatidylinositol signaling system_Homo sapiens_hsa040701.00852853
46Pathways in cancer_Homo sapiens_hsa052000.98681710
47Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.98012084
48GnRH signaling pathway_Homo sapiens_hsa049120.95385229
49Circadian rhythm_Homo sapiens_hsa047100.94685455
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94273218
51Gastric acid secretion_Homo sapiens_hsa049710.93993562
52Neurotrophin signaling pathway_Homo sapiens_hsa047220.93272240
53Renal cell carcinoma_Homo sapiens_hsa052110.93043515
54Central carbon metabolism in cancer_Homo sapiens_hsa052300.92563394
55Axon guidance_Homo sapiens_hsa043600.92455658
56Calcium signaling pathway_Homo sapiens_hsa040200.91274682
57Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.90269859
58Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.90118018
59mTOR signaling pathway_Homo sapiens_hsa041500.90104397
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.89889033
61Long-term potentiation_Homo sapiens_hsa047200.88041193
62Choline metabolism in cancer_Homo sapiens_hsa052310.87987539
63Aldosterone synthesis and secretion_Homo sapiens_hsa049250.87817653
64Sphingolipid metabolism_Homo sapiens_hsa006000.86383808
65Colorectal cancer_Homo sapiens_hsa052100.84282692
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.82982612
67Inositol phosphate metabolism_Homo sapiens_hsa005620.81132813
68Dorso-ventral axis formation_Homo sapiens_hsa043200.80966817
69Glutamatergic synapse_Homo sapiens_hsa047240.80952940
70Glucagon signaling pathway_Homo sapiens_hsa049220.80576699
71Rap1 signaling pathway_Homo sapiens_hsa040150.80568522
72Long-term depression_Homo sapiens_hsa047300.80044602
73Cocaine addiction_Homo sapiens_hsa050300.79305419
74MAPK signaling pathway_Homo sapiens_hsa040100.76398005
75AMPK signaling pathway_Homo sapiens_hsa041520.75887428
76ErbB signaling pathway_Homo sapiens_hsa040120.75623758
77Prolactin signaling pathway_Homo sapiens_hsa049170.75460041
78Insulin secretion_Homo sapiens_hsa049110.75326331
79Tight junction_Homo sapiens_hsa045300.75117342
80cAMP signaling pathway_Homo sapiens_hsa040240.72454026
81Cholinergic synapse_Homo sapiens_hsa047250.71439341
82Basal cell carcinoma_Homo sapiens_hsa052170.71138474
83Prion diseases_Homo sapiens_hsa050200.70261947
84Insulin signaling pathway_Homo sapiens_hsa049100.66794874
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.66692166
86Wnt signaling pathway_Homo sapiens_hsa043100.65909680
87Insulin resistance_Homo sapiens_hsa049310.65678640
88FoxO signaling pathway_Homo sapiens_hsa040680.64970417
89Salivary secretion_Homo sapiens_hsa049700.64896842
90Taste transduction_Homo sapiens_hsa047420.64290529
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62581864
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.62284928
93Thyroid cancer_Homo sapiens_hsa052160.60055974
94Ras signaling pathway_Homo sapiens_hsa040140.60011311
95Circadian entrainment_Homo sapiens_hsa047130.59414412
96Pancreatic secretion_Homo sapiens_hsa049720.58351723
97VEGF signaling pathway_Homo sapiens_hsa043700.55043391
98Hepatitis B_Homo sapiens_hsa051610.52003578
99N-Glycan biosynthesis_Homo sapiens_hsa005100.51570687
100Malaria_Homo sapiens_hsa051440.51015568

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »