EFEMP2

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: A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)7.36190764
2protein heterotrimerization (GO:0070208)6.49471923
3sequestering of extracellular ligand from receptor (GO:0035581)5.92168834
4chondrocyte proliferation (GO:0035988)5.91483420
5peptidyl-proline hydroxylation (GO:0019511)5.41552320
6bone trabecula formation (GO:0060346)5.29452722
7skin morphogenesis (GO:0043589)4.95718033
8positive regulation of endothelial cell apoptotic process (GO:2000353)4.86022673
9dermatan sulfate biosynthetic process (GO:0030208)4.80872721
10endodermal cell differentiation (GO:0035987)4.71244854
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.67913393
12maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.56126826
13protein retention in ER lumen (GO:0006621)4.55884770
14fibril organization (GO:0097435)4.53676565
15extracellular matrix assembly (GO:0085029)4.49227151
16collagen metabolic process (GO:0032963)4.45547511
17protein hydroxylation (GO:0018126)4.43978867
18negative regulation of chondrocyte differentiation (GO:0032331)4.43790243
19cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.43060374
20wound healing, spreading of epidermal cells (GO:0035313)4.42476091
21dermatan sulfate metabolic process (GO:0030205)4.42205455
22extracellular fibril organization (GO:0043206)4.40148592
23regulation of tight junction assembly (GO:2000810)4.35592194
24collagen catabolic process (GO:0030574)4.34103513
25mesenchymal-epithelial cell signaling (GO:0060638)4.33625739
26Golgi transport vesicle coating (GO:0048200)4.32382041
27COPI coating of Golgi vesicle (GO:0048205)4.32382041
28cellular response to vitamin (GO:0071295)4.13141235
29multicellular organismal macromolecule metabolic process (GO:0044259)4.12957107
30axon extension involved in axon guidance (GO:0048846)4.07142274
31neuron projection extension involved in neuron projection guidance (GO:1902284)4.07142274
32wound healing, spreading of cells (GO:0044319)4.01672047
33cell adhesion mediated by integrin (GO:0033627)3.96572135
34multicellular organismal catabolic process (GO:0044243)3.95324716
35regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.94842555
36type B pancreatic cell proliferation (GO:0044342)3.91869584
37keratan sulfate catabolic process (GO:0042340)3.89152949
38extracellular matrix disassembly (GO:0022617)3.89068878
39multicellular organismal metabolic process (GO:0044236)3.88721285
40apoptotic cell clearance (GO:0043277)3.87620850
41positive regulation of extracellular matrix organization (GO:1903055)3.87551008
42regulation of integrin-mediated signaling pathway (GO:2001044)3.84181311
43epoxygenase P450 pathway (GO:0019373)3.81385466
44blood vessel maturation (GO:0001955)3.80375089
45negative regulation of smooth muscle cell migration (GO:0014912)3.75932113
46negative regulation of cartilage development (GO:0061037)3.72829019
47negative regulation of fatty acid transport (GO:2000192)3.71183020
48retina vasculature morphogenesis in camera-type eye (GO:0061299)3.64009332
49cellular response to interferon-alpha (GO:0035457)3.59695744
50omega-hydroxylase P450 pathway (GO:0097267)3.59293362
51basement membrane organization (GO:0071711)3.55949794
52regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.55797160
53endothelial cell morphogenesis (GO:0001886)3.52240403
54chondroitin sulfate biosynthetic process (GO:0030206)3.50769353
55cellular response to vitamin D (GO:0071305)3.49721052
56virion attachment to host cell (GO:0019062)3.49013802
57adhesion of symbiont to host cell (GO:0044650)3.49013802
58metanephric mesenchyme development (GO:0072075)3.48186314
59craniofacial suture morphogenesis (GO:0097094)3.44213612
60epithelial cell-cell adhesion (GO:0090136)3.42129996
61positive regulation of epithelial to mesenchymal transition (GO:0010718)3.41282459
62chondrocyte development (GO:0002063)3.40452950
63cell migration involved in heart development (GO:0060973)3.40185698
64* extracellular matrix organization (GO:0030198)3.36932600
65* extracellular structure organization (GO:0043062)3.35656415
66protein targeting to plasma membrane (GO:0072661)3.32505958
67venous blood vessel morphogenesis (GO:0048845)3.30565399
68protein localization to cell surface (GO:0034394)3.28279978
69barbed-end actin filament capping (GO:0051016)3.24842973
70kidney mesenchyme development (GO:0072074)3.22651329
71negative regulation of catenin import into nucleus (GO:0035414)3.21730705
72positive regulation of cartilage development (GO:0061036)3.21402004
73stress fiber assembly (GO:0043149)3.20740651
74extracellular negative regulation of signal transduction (GO:1900116)3.20076806
75extracellular regulation of signal transduction (GO:1900115)3.20076806
76substrate-dependent cell migration (GO:0006929)3.18536555
77positive regulation of blood vessel endothelial cell migration (GO:0043536)3.12842994
78adhesion of symbiont to host (GO:0044406)3.10444087
79regulation of cartilage development (GO:0061035)3.09953536
80regulation of plasminogen activation (GO:0010755)3.06169368
81cell-substrate junction assembly (GO:0007044)2.99622029
82atrioventricular valve morphogenesis (GO:0003181)2.99278109
83negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)2.98378483
84response to gravity (GO:0009629)2.95136547
85planar cell polarity pathway involved in neural tube closure (GO:0090179)2.93278609
86tooth mineralization (GO:0034505)2.92497165
87G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.90485814
88regulation of extracellular matrix disassembly (GO:0010715)2.90221380
89outer ear morphogenesis (GO:0042473)2.89990777
90vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.89606879
91endothelial cell proliferation (GO:0001935)2.89171776
92positive regulation of osteoblast proliferation (GO:0033690)2.88777524
93wound healing (GO:0042060)2.87257584
94endochondral ossification (GO:0001958)2.86448397
95replacement ossification (GO:0036075)2.86448397
96regulation of chondrocyte differentiation (GO:0032330)2.86156343
97epithelial to mesenchymal transition (GO:0001837)2.86141157
98negative regulation of embryonic development (GO:0045992)2.85868674
99cell migration involved in sprouting angiogenesis (GO:0002042)2.85657352
100endocardial cushion development (GO:0003197)2.84932285
101cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.84763117
102heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.82174545
103peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.81567749
104trabecula formation (GO:0060343)2.81435339
105vascular endothelial growth factor signaling pathway (GO:0038084)2.80441850
106embryonic skeletal joint morphogenesis (GO:0060272)2.80166533
107cochlea morphogenesis (GO:0090103)2.79482794
108adherens junction assembly (GO:0034333)2.79261368
109cell proliferation involved in metanephros development (GO:0072203)2.79177641
110smooth muscle tissue development (GO:0048745)2.77523797
111cellular response to amino acid stimulus (GO:0071230)2.75301168
112regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.74892991
113pericardium development (GO:0060039)2.74736258
114middle ear morphogenesis (GO:0042474)2.73991609
115substrate adhesion-dependent cell spreading (GO:0034446)2.73610092
116regulation of epithelial to mesenchymal transition (GO:0010717)2.73120495
117cranial suture morphogenesis (GO:0060363)2.73109835
118cellular response to nutrient (GO:0031670)2.72959880
119cell-substrate adherens junction assembly (GO:0007045)2.69114091
120focal adhesion assembly (GO:0048041)2.69114091
121embryonic cranial skeleton morphogenesis (GO:0048701)2.68750294
122glomerular basement membrane development (GO:0032836)2.67918181
123negative regulation of BMP signaling pathway (GO:0030514)2.66988418
124positive regulation of fibroblast migration (GO:0010763)2.65316168
125hyaluronan catabolic process (GO:0030214)2.64561747
126chondroitin sulfate catabolic process (GO:0030207)2.63764923
127negative regulation of osteoblast proliferation (GO:0033689)2.63272936
128positive regulation of axon extension (GO:0045773)2.62857240
129Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.60533953
130regulation of axon extension involved in axon guidance (GO:0048841)2.52971587

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.88489124
2RARG_19884340_ChIP-ChIP_MEFs_Mouse5.94954250
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.88224887
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.71932728
5CLOCK_20551151_ChIP-Seq_293T_Human3.77164166
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.48404519
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.26832018
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.15364832
9WT1_19549856_ChIP-ChIP_CCG9911_Human3.08609808
10* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.84340316
11CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.72772126
12CJUN_26792858_Chip-Seq_BT549_Human2.69692247
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.43958791
14NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.38160740
15ESR1_21235772_ChIP-Seq_MCF-7_Human2.36289539
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.25890981
17BRD4_25478319_ChIP-Seq_HGPS_Human2.21582313
18TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.19073274
19ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.10562841
20NRF2_20460467_ChIP-Seq_MEFs_Mouse2.06361325
21NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.06361325
22WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.06168888
23NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.04245652
24ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.98435715
25* ELK3_25401928_ChIP-Seq_HUVEC_Human1.97601996
26TP53_20018659_ChIP-ChIP_R1E_Mouse1.92113905
27EED_16625203_ChIP-ChIP_MESCs_Mouse1.89643857
28SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.74372882
29EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.73099723
30SMC1_22415368_ChIP-Seq_MEFs_Mouse1.70759859
31ESR1_15608294_ChIP-ChIP_MCF-7_Human1.67581945
32JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.63252373
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.61185591
34TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60623675
35EP300_21415370_ChIP-Seq_HL-1_Mouse1.59754243
36SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.54618554
37SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.54618554
38UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.50783607
39MTF2_20144788_ChIP-Seq_MESCs_Mouse1.50158428
40* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.47617962
41SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.46319877
42JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.45831387
43ATF3_27146783_Chip-Seq_COLON_Human1.45649469
44SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.43526438
45TP53_22127205_ChIP-Seq_IMR90_Human1.43050265
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.42746101
47P300_27058665_Chip-Seq_ZR-75-30cells_Human1.41101104
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.40986104
49HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.40902280
50ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.40587999
51HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.39654453
52CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.39146024
53SMC3_22415368_ChIP-Seq_MEFs_Mouse1.38488420
54* TP53_23651856_ChIP-Seq_MEFs_Mouse1.37470747
55KDM2B_26808549_Chip-Seq_K562_Human1.37104395
56TP53_18474530_ChIP-ChIP_U2OS_Human1.37089130
57SOX2_20726797_ChIP-Seq_SW620_Human1.35710267
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.34670519
59MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.34417109
60EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31159237
61PPAR_26484153_Chip-Seq_NCI-H1993_Human1.29409469
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.28006312
63ELK1_22589737_ChIP-Seq_MCF10A_Human1.27756668
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26112582
65NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.26079312
66SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.25629320
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.24866448
68SALL4_18804426_ChIP-ChIP_XEN_Mouse1.24731625
69SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.24709716
70SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.24051798
71RNF2_27304074_Chip-Seq_ESCs_Mouse1.24024970
72PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.23635099
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23114068
74ERG_21242973_ChIP-ChIP_JURKAT_Human1.21606826
75* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.21009968
76EZH2_18974828_ChIP-Seq_MESCs_Mouse1.20728659
77RNF2_18974828_ChIP-Seq_MESCs_Mouse1.20728659
78STAT6_21828071_ChIP-Seq_BEAS2B_Human1.20594092
79SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.19334410
80RACK7_27058665_Chip-Seq_MCF-7_Human1.17828986
81ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.16380157
82SA1_22415368_ChIP-Seq_MEFs_Mouse1.15521322
83EZH2_27304074_Chip-Seq_ESCs_Mouse1.15455473
84THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.14618592
85TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13207488
86RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11696890
87ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11556701
88* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10958794
89ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.10863337
90* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09661457
91P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09048303
92SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.07791871
93SUZ12_27294783_Chip-Seq_ESCs_Mouse1.05507400
94NFI_21473784_ChIP-Seq_ESCs_Mouse1.04857275
95RAD21_21589869_ChIP-Seq_MESCs_Mouse1.04755322
96EZH2_27294783_Chip-Seq_ESCs_Mouse1.03816689
97TBX20_22080862_ChIP-Seq_HEART_Mouse1.03387777
98TBX20_22328084_ChIP-Seq_HEART_Mouse1.03387777
99JARID2_20064375_ChIP-Seq_MESCs_Mouse1.03037613
100TET1_21490601_ChIP-Seq_MESCs_Mouse1.02732032
101TP53_16413492_ChIP-PET_HCT116_Human1.01645667
102NFIB_24661679_ChIP-Seq_LUNG_Mouse1.00882934
103* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00477429
104CTCF_27219007_Chip-Seq_Bcells_Human0.99327946
105DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.99124437
106* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.98872571
107ISL1_27105846_Chip-Seq_CPCs_Mouse0.98622419
108JARID2_20075857_ChIP-Seq_MESCs_Mouse0.96412227
109* KDM2B_26808549_Chip-Seq_DND41_Human0.96054680
110* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95074051
111PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.94695231
112WT1_25993318_ChIP-Seq_PODOCYTE_Human0.94681950
113TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.92304670
114LXR_22292898_ChIP-Seq_THP-1_Human0.91873314
115SOX9_24532713_ChIP-Seq_HFSC_Mouse0.90824438
116* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.89331264
117TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.88822744
118CDX2_19796622_ChIP-Seq_MESCs_Mouse0.87771923
119FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.86597416
120FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.85718931
121EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.83119658
122CSB_26484114_Chip-Seq_FIBROBLAST_Human0.83096426
123* KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.82685696
124NANOG_16153702_ChIP-ChIP_HESCs_Human0.82410883
125ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.82007872
126KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.78082654
127TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.78069200
128FOXO3_23340844_ChIP-Seq_DLD1_Human0.77072833

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.07149246
2MP0005503_abnormal_tendon_morphology5.92906803
3MP0005275_abnormal_skin_tensile5.57880218
4* MP0003279_aneurysm4.29094739
5* MP0003705_abnormal_hypodermis_morpholog3.29265079
6* MP0001958_emphysema3.16558480
7MP0004272_abnormal_basement_membrane2.59327874
8MP0006054_spinal_hemorrhage2.58960245
9* MP0009384_cardiac_valve_regurgitation2.53012954
10MP0005508_abnormal_skeleton_morphology2.40020741
11MP0005623_abnormal_meninges_morphology2.38436585
12MP0002295_abnormal_pulmonary_circulatio2.35882411
13MP0010030_abnormal_orbit_morphology2.19040262
14MP0005257_abnormal_intraocular_pressure2.14676204
15MP0005023_abnormal_wound_healing2.14380959
16MP0001542_abnormal_bone_strength2.07261711
17MP0002060_abnormal_skin_morphology1.93242337
18MP0009250_abnormal_appendicular_skeleto1.88677242
19MP0002933_joint_inflammation1.84833320
20MP0003385_abnormal_body_wall1.79581350
21MP0003566_abnormal_cell_adhesion1.78440940
22MP0002108_abnormal_muscle_morphology1.70183968
23MP0003091_abnormal_cell_migration1.69505259
24MP0002282_abnormal_trachea_morphology1.64574614
25MP0002896_abnormal_bone_mineralization1.59720992
26MP0005390_skeleton_phenotype1.58364644
27MP0004134_abnormal_chest_morphology1.54555170
28MP0010368_abnormal_lymphatic_system1.53256536
29MP0001243_abnormal_dermal_layer1.53083232
30MP0000013_abnormal_adipose_tissue1.52386506
31MP0000163_abnormal_cartilage_morphology1.50060532
32MP0001299_abnormal_eye_distance/1.49658733
33MP0010352_gastrointestinal_tract_polyps1.46193338
34MP0004858_abnormal_nervous_system1.44322296
35MP0003942_abnormal_urinary_system1.34316005
36MP0002115_abnormal_skeleton_extremities1.33006631
37MP0004233_abnormal_muscle_weight1.25489399
38MP0009780_abnormal_chondrocyte_physiolo1.24376303
39MP0001533_abnormal_skeleton_physiology1.24026871
40MP0002932_abnormal_joint_morphology1.21142560
41MP0000749_muscle_degeneration1.20781182
42MP0002877_abnormal_melanocyte_morpholog1.19310122
43MP0003283_abnormal_digestive_organ1.18599939
44MP0002113_abnormal_skeleton_development1.14371428
45MP0000428_abnormal_craniofacial_morphol1.11037166
46MP0009053_abnormal_anal_canal1.10504795
47MP0001879_abnormal_lymphatic_vessel1.08919021
48MP0000733_abnormal_muscle_development1.08753707
49* MP0000767_abnormal_smooth_muscle1.07503919
50MP0001849_ear_inflammation1.07288461
51MP0003115_abnormal_respiratory_system1.06762021
52MP0005595_abnormal_vascular_smooth1.05877908
53MP0005171_absent_coat_pigmentation1.04254745
54MP0000049_abnormal_middle_ear1.02324087
55MP0002168_other_aberrant_phenotype1.01468447
56MP0002998_abnormal_bone_remodeling0.99161500
57MP0000534_abnormal_ureter_morphology0.97972113
58MP0003755_abnormal_palate_morphology0.94880628
59MP0003795_abnormal_bone_structure0.93804788
60MP0004084_abnormal_cardiac_muscle0.93544845
61MP0010386_abnormal_urinary_bladder0.93145176
62MP0000750_abnormal_muscle_regeneration0.93034102
63MP0000462_abnormal_digestive_system0.91700274
64MP0002109_abnormal_limb_morphology0.87239175
65MP0002254_reproductive_system_inflammat0.86521828
66MP0002249_abnormal_larynx_morphology0.84952847
67MP0002089_abnormal_postnatal_growth/wei0.83931780
68MP0005058_abnormal_lysosome_morphology0.83349338
69MP0001177_atelectasis0.81840278
70MP0005164_abnormal_response_to0.81665797
71MP0004087_abnormal_muscle_fiber0.79890767
72MP0005369_muscle_phenotype0.78243290
73MP0002116_abnormal_craniofacial_bone0.77854743
74* MP0002128_abnormal_blood_circulation0.77586590
75MP0000858_altered_metastatic_potential0.76907917
76MP0003724_increased_susceptibility_to0.75740037
77MP0000003_abnormal_adipose_tissue0.75604450
78MP0000751_myopathy0.75533421
79MP0005197_abnormal_uvea_morphology0.75224740
80MP0000343_altered_response_to0.75009750
81MP0006138_congestive_heart_failure0.74999673
82MP0002111_abnormal_tail_morphology0.74773634
83MP0004036_abnormal_muscle_relaxation0.74311132
84MP0000762_abnormal_tongue_morphology0.73931602
85MP0005620_abnormal_muscle_contractility0.73892596
86MP0000432_abnormal_head_morphology0.73695831
87* MP0001614_abnormal_blood_vessel0.72456684
88MP0009840_abnormal_foam_cell0.72387736
89MP0001915_intracranial_hemorrhage0.70686215
90MP0001348_abnormal_lacrimal_gland0.69875378
91MP0003950_abnormal_plasma_membrane0.69763135
92MP0002938_white_spotting0.69643611
93MP0000538_abnormal_urinary_bladder0.68373592
94MP0005330_cardiomyopathy0.68064449
95MP0000747_muscle_weakness0.66372696
96MP0003937_abnormal_limbs/digits/tail_de0.65700563
97* MP0001175_abnormal_lung_morphology0.65394565
98MP0003828_pulmonary_edema0.64812921
99MP0005165_increased_susceptibility_to0.64767985
100MP0004883_abnormal_blood_vessel0.64741748
101MP0002233_abnormal_nose_morphology0.64120874
102MP0003300_gastrointestinal_ulcer0.63338164
103* MP0005388_respiratory_system_phenotype0.63247608
104* MP0002133_abnormal_respiratory_system0.63247608
105MP0003935_abnormal_craniofacial_develop0.63177061
106MP0003045_fibrosis0.62441059
107MP0002114_abnormal_axial_skeleton0.62376982
108MP0001661_extended_life_span0.62167580
109MP0003448_altered_tumor_morphology0.61255794
110MP0005076_abnormal_cell_differentiation0.61010489
111MP0008775_abnormal_heart_ventricle0.60411140
112MP0008004_abnormal_stomach_pH0.59806302
113* MP0000759_abnormal_skeletal_muscle0.59558806
114MP0005193_abnormal_anterior_eye0.58333237
115MP0003941_abnormal_skin_development0.57541300
116MP0001270_distended_abdomen0.56841056
117MP0000537_abnormal_urethra_morphology0.54456332
118MP0000516_abnormal_urinary_system0.54399463
119MP0005367_renal/urinary_system_phenotyp0.54399463
120MP0002925_abnormal_cardiovascular_devel0.54341038
121MP0005220_abnormal_exocrine_pancreas0.54214494
122MP0005084_abnormal_gallbladder_morpholo0.53556295

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.91748285
2Premature rupture of membranes (HP:0001788)8.23835802
3Vertebral compression fractures (HP:0002953)5.13844395
4Peritonitis (HP:0002586)5.00912573
5Aortic dissection (HP:0002647)4.86459088
6Abnormality of dentin (HP:0010299)4.55938981
7Ankle contracture (HP:0006466)4.39619003
8Shallow orbits (HP:0000586)4.37847831
9Biconcave vertebral bodies (HP:0004586)4.36756799
10Wrist flexion contracture (HP:0001239)4.34819407
11* Soft skin (HP:0000977)4.29111897
12Atrophic scars (HP:0001075)4.26474990
13Cervical subluxation (HP:0003308)4.13458102
14Neonatal short-limb short stature (HP:0008921)4.00991133
15Broad metatarsal (HP:0001783)3.96600941
16Fragile skin (HP:0001030)3.79620676
17Coxa vara (HP:0002812)3.74489363
18Cerebral aneurysm (HP:0004944)3.70219621
19Blue sclerae (HP:0000592)3.67890902
20Genu recurvatum (HP:0002816)3.63285340
21* Dilatation of the ascending aorta (HP:0005111)3.61321262
22* Wormian bones (HP:0002645)3.59786032
23* Aortic aneurysm (HP:0004942)3.56439515
24* Bladder diverticulum (HP:0000015)3.53722370
25Follicular hyperkeratosis (HP:0007502)3.47320920
26Abnormality of the acetabulum (HP:0003170)3.25597003
27Spinal rigidity (HP:0003306)3.24105840
28Joint stiffness (HP:0001387)3.15016115
29Hyperextensible skin (HP:0000974)2.91684251
30Type 1 muscle fiber predominance (HP:0003803)2.90843811
31Beaking of vertebral bodies (HP:0004568)2.89240054
32Mitral valve prolapse (HP:0001634)2.86583414
33Abnormality of skeletal muscle fiber size (HP:0012084)2.83916219
34Abnormal delivery (HP:0001787)2.78077365
35Ectopia lentis (HP:0001083)2.72274445
36Hypoventilation (HP:0002791)2.66757688
37Elbow flexion contracture (HP:0002987)2.64699501
38Osteoarthritis (HP:0002758)2.61794215
39* Arterial tortuosity (HP:0005116)2.61406638
40Spondylolisthesis (HP:0003302)2.59996380
41Infantile muscular hypotonia (HP:0008947)2.54153426
42Increased connective tissue (HP:0009025)2.48925293
43Joint laxity (HP:0001388)2.43407373
44Platyspondyly (HP:0000926)2.37258953
45Breech presentation (HP:0001623)2.35487874
46Mild short stature (HP:0003502)2.34815510
47Congenital glaucoma (HP:0001087)2.29626801
48* Bowel diverticulosis (HP:0005222)2.26264937
49Mesomelia (HP:0003027)2.25669590
50Wide anterior fontanel (HP:0000260)2.24508014
51Slender build (HP:0001533)2.24051372
52Cupped ribs (HP:0000887)2.21798106
53Disproportionate tall stature (HP:0001519)2.20678235
54Short nail (HP:0001799)2.18973263
55Broad ribs (HP:0000885)2.17209447
56Abnormality of the peritoneum (HP:0002585)2.16642980
57Mitral regurgitation (HP:0001653)2.14490831
58Mildly elevated creatine phosphokinase (HP:0008180)2.13769715
59Thin bony cortex (HP:0002753)2.13244267
60Upper limb amyotrophy (HP:0009129)2.12059234
61Distal upper limb amyotrophy (HP:0007149)2.12059234
62Decreased skull ossification (HP:0004331)2.11190919
63Turricephaly (HP:0000262)2.10448703
64Broad long bones (HP:0005622)2.08339933
65Camptodactyly of toe (HP:0001836)2.06818842
66Hand muscle atrophy (HP:0009130)2.06430058
67Nonimmune hydrops fetalis (HP:0001790)2.05780097
68Abnormality of skull ossification (HP:0002703)2.05571062
69Ulnar deviation of the wrist (HP:0003049)2.05238925
70Bell-shaped thorax (HP:0001591)2.05003294
71* Aneurysm (HP:0002617)2.04488700
72Deviation of the hallux (HP:0010051)2.03670327
73* Vascular tortuosity (HP:0004948)2.02254823
74Buphthalmos (HP:0000557)2.01352366
75Long toe (HP:0010511)2.01316673
76Epiphyseal dysplasia (HP:0002656)2.00449312
77Spinal cord compression (HP:0002176)2.00066828
78Ulnar bowing (HP:0003031)1.98258622
79Round ear (HP:0100830)1.96656060
80Osteopenia (HP:0000938)1.96324266
81Thoracolumbar scoliosis (HP:0002944)1.96263619
82Limb-girdle muscle weakness (HP:0003325)1.95510431
83Protruding ear (HP:0000411)1.94589516
84Limited elbow extension (HP:0001377)1.92482120
85Mitral stenosis (HP:0001718)1.92382708
86Hallux valgus (HP:0001822)1.92328200
87Tibial bowing (HP:0002982)1.91739176
88Increased variability in muscle fiber diameter (HP:0003557)1.91611627
89Femoral bowing (HP:0002980)1.90498440
90Osteolytic defects of the hand bones (HP:0009699)1.89327865
91Osteolytic defects of the phalanges of the hand (HP:0009771)1.89327865
92Hip contracture (HP:0003273)1.87192418
93Delayed cranial suture closure (HP:0000270)1.86919933
94* Inguinal hernia (HP:0000023)1.85349745
95* Overgrowth (HP:0001548)1.84078801
96Abnormality of the anterior chamber (HP:0000593)1.83438466
97Premature skin wrinkling (HP:0100678)1.82720610
98Achilles tendon contracture (HP:0001771)1.82282716
99Flat capital femoral epiphysis (HP:0003370)1.81696194
100Absent frontal sinuses (HP:0002688)1.81544966
101Bowed forearm bones (HP:0003956)1.81340871
102Bowing of the arm (HP:0006488)1.81340871
103Limited hip movement (HP:0008800)1.81283613
104Joint contractures involving the joints of the feet (HP:0100492)1.80633581
105Flexion contracture of toe (HP:0005830)1.80633581
106Flat cornea (HP:0007720)1.80434908
107Thin ribs (HP:0000883)1.79894752
108Radial bowing (HP:0002986)1.79021304
109Hypoplasia of the iris (HP:0007676)1.78343709
110Ovoid vertebral bodies (HP:0003300)1.78226736
111Renal duplication (HP:0000075)1.77906265
112Coronal craniosynostosis (HP:0004440)1.77854384
113Pulmonary artery stenosis (HP:0004415)1.76446327
114Redundant skin (HP:0001582)1.75436288
115Knee flexion contracture (HP:0006380)1.74958631
116Generalized amyotrophy (HP:0003700)1.74635334
117Delayed closure of the anterior fontanelle (HP:0001476)1.74118170
118Natal tooth (HP:0000695)1.74031407
119Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.73367357
120Aortic valve stenosis (HP:0001650)1.72150154
121Abnormality of the distal phalanges of the toes (HP:0010182)1.71035706
122Tarsal synostosis (HP:0008368)1.69649270
123Thin skin (HP:0000963)1.68055608
124Metaphyseal cupping (HP:0003021)1.67728417
125Venous abnormality (HP:0002624)1.67562477
126Broad phalanx (HP:0006009)1.67007975
127Hypoplastic ischia (HP:0003175)1.65780868
128Aortic regurgitation (HP:0001659)1.64923948

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.91016311
2LATS24.60033923
3ERN14.21483078
4TRIB34.07282769
5TTN3.14254811
6PDGFRA3.11233010
7TESK12.50721578
8PKN22.48263049
9LATS12.34260266
10LIMK12.11126159
11RPS6KA42.02920976
12PAK21.99460980
13EPHA31.97789399
14PIM21.97234761
15EPHB21.90965092
16PAK31.84941090
17FER1.83992186
18MAP3K31.78184525
19MOS1.75250492
20PTK21.66949649
21NME21.47600965
22PIK3CG1.46550054
23STK381.43664192
24SIK11.42648619
25ERBB31.40269169
26PTK2B1.37966170
27LRRK21.34961984
28TESK21.34369452
29TRPM71.31182959
30KIT1.28625102
31BMX1.20002185
32MAP3K61.18067297
33PAK41.16409640
34FGFR11.16260197
35NEK91.16256158
36MET1.15471312
37AKT31.14192621
38TAOK21.13504731
39MAP2K11.12294754
40MAPK71.11745505
41RIPK11.08312820
42TGFBR11.07734780
43MYLK1.06908291
44RPS6KA21.06052255
45PIK3CA1.03190315
46NTRK11.02759824
47PTK61.02625165
48GRK71.01044695
49ROCK11.00745740
50TAOK11.00623134
51PLK21.00566321
52TGFBR20.99285118
53FLT30.97934573
54TIE10.97513400
55ILK0.95978493
56STK38L0.95677951
57ARAF0.91935931
58GRK50.89700454
59PAK10.85101576
60MUSK0.85091456
61STK30.84889210
62CAMKK20.84146470
63ICK0.83284728
64PDGFRB0.81594022
65FRK0.78677666
66PRPF4B0.76173589
67MAP3K70.75297083
68MAPK150.74726586
69DMPK0.73374463
70EPHB10.73175727
71MAPKAPK30.72061871
72SCYL20.71398842
73MTOR0.69085055
74LMTK20.68932111
75EPHA20.67544118
76WNK10.64059823
77ABL20.63297413
78MARK20.63234593
79MAP2K30.61979902
80RPS6KC10.61494920
81RPS6KL10.61494920
82MAP3K110.59873566
83PRKD30.59649401
84ROCK20.58923723
85PRKD10.57608862
86GSK3A0.56331962
87PRKG20.55885489
88CAMKK10.54647820
89DAPK30.54613052
90SMG10.53580056
91MAP3K80.52647743
92PAK60.51756952
93ZAP700.51490309
94CDK140.51370717
95KDR0.50117229
96PDK20.49555690
97INSR0.49441124
98CAMK2G0.49440558
99JAK10.48046572
100EEF2K0.47508327
101PASK0.45905964
102CDK150.45815969
103RPS6KA60.44767481
104CDC42BPA0.43259573
105PDPK10.42423254
106MAPK120.42422173
107MAPK40.41858705
108CDK180.41640272
109MELK0.41283541
110CDK11A0.39742512
111JAK30.37669782
112TBK10.36336960
113RET0.36171703
114CDK60.35720580
115MARK10.34157868
116SRC0.33726686
117MAP3K100.33518647
118CDK80.33176650
119PLK30.32954298
120PRKD20.32769275
121CAMK10.31979420
122PRKCH0.31164903
123ADRBK10.31002208
124MAP3K130.30729546
125DYRK1B0.28661471
126TYK20.27098622
127GRK10.26225533
128STK100.26136514
129MAPKAPK20.25959141
130ERBB40.25292662
131MAPKAPK50.24473555
132FGFR40.23562148
133MAPK10.23008118
134KSR20.22913882
135NUAK10.22201263
136BRSK20.20286417
137IGF1R0.19667650

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005325.11519303
2ECM-receptor interaction_Homo sapiens_hsa045124.66916388
3Focal adhesion_Homo sapiens_hsa045103.21554181
4Protein digestion and absorption_Homo sapiens_hsa049742.60993260
5Malaria_Homo sapiens_hsa051442.60599317
6Proteoglycans in cancer_Homo sapiens_hsa052052.40849825
7Bladder cancer_Homo sapiens_hsa052192.36563965
8Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.26287828
9AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.24546584
10TGF-beta signaling pathway_Homo sapiens_hsa043502.23871050
11Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.06814192
12Adherens junction_Homo sapiens_hsa045201.92194574
13Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.83618766
14Hippo signaling pathway_Homo sapiens_hsa043901.83406017
15Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.80321267
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.78875073
17Amoebiasis_Homo sapiens_hsa051461.71149923
18Dilated cardiomyopathy_Homo sapiens_hsa054141.69967598
19Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.64197590
20Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.60052039
21Melanoma_Homo sapiens_hsa052181.58183864
22MicroRNAs in cancer_Homo sapiens_hsa052061.58043977
23Basal cell carcinoma_Homo sapiens_hsa052171.53060313
24Small cell lung cancer_Homo sapiens_hsa052221.43326197
25Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.39781210
26Hedgehog signaling pathway_Homo sapiens_hsa043401.39593160
27Shigellosis_Homo sapiens_hsa051311.38261094
28p53 signaling pathway_Homo sapiens_hsa041151.37340314
29Phagosome_Homo sapiens_hsa041451.36281606
30Glycosaminoglycan degradation_Homo sapiens_hsa005311.29005516
31Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.25049663
32Chronic myeloid leukemia_Homo sapiens_hsa052201.24715752
33N-Glycan biosynthesis_Homo sapiens_hsa005101.24693652
34Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.21548237
35Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.19149477
36Regulation of actin cytoskeleton_Homo sapiens_hsa048101.18988288
37Lysosome_Homo sapiens_hsa041421.14546023
38Vibrio cholerae infection_Homo sapiens_hsa051101.13846316
39TNF signaling pathway_Homo sapiens_hsa046681.07149911
40cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06357592
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.05773735
42HIF-1 signaling pathway_Homo sapiens_hsa040661.05701426
43Other glycan degradation_Homo sapiens_hsa005111.02845175
44Rap1 signaling pathway_Homo sapiens_hsa040150.99960308
45Leukocyte transendothelial migration_Homo sapiens_hsa046700.99634839
46Central carbon metabolism in cancer_Homo sapiens_hsa052300.96901243
47HTLV-I infection_Homo sapiens_hsa051660.95336977
48Wnt signaling pathway_Homo sapiens_hsa043100.95179686
49Prostate cancer_Homo sapiens_hsa052150.94439220
50Pathways in cancer_Homo sapiens_hsa052000.94257334
51Pancreatic cancer_Homo sapiens_hsa052120.91035814
52Protein export_Homo sapiens_hsa030600.90601326
53Glioma_Homo sapiens_hsa052140.90102096
54Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.88544905
55Viral myocarditis_Homo sapiens_hsa054160.86190540
56Notch signaling pathway_Homo sapiens_hsa043300.82499483
57Apoptosis_Homo sapiens_hsa042100.80547987
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.79045716
59Cocaine addiction_Homo sapiens_hsa050300.78646127
60Tight junction_Homo sapiens_hsa045300.77824232
61Galactose metabolism_Homo sapiens_hsa000520.77611605
62Platelet activation_Homo sapiens_hsa046110.76704469
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.75751083
64Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.75277681
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73097816
66Gap junction_Homo sapiens_hsa045400.69127234
67Axon guidance_Homo sapiens_hsa043600.67684857
68Viral carcinogenesis_Homo sapiens_hsa052030.64959604
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63962748
70Glutathione metabolism_Homo sapiens_hsa004800.61127100
71Longevity regulating pathway - mammal_Homo sapiens_hsa042110.61094411
72Hepatitis B_Homo sapiens_hsa051610.60853914
73Arginine and proline metabolism_Homo sapiens_hsa003300.60487284
74Colorectal cancer_Homo sapiens_hsa052100.59897503
75MAPK signaling pathway_Homo sapiens_hsa040100.59365091
76Aldosterone synthesis and secretion_Homo sapiens_hsa049250.57691157
77Toxoplasmosis_Homo sapiens_hsa051450.57605985
78Renal cell carcinoma_Homo sapiens_hsa052110.56757336
79Melanogenesis_Homo sapiens_hsa049160.55284245
80Thyroid hormone synthesis_Homo sapiens_hsa049180.55184101
81Caffeine metabolism_Homo sapiens_hsa002320.54929036
82Prion diseases_Homo sapiens_hsa050200.54578181
83Rheumatoid arthritis_Homo sapiens_hsa053230.53516909
84Ovarian steroidogenesis_Homo sapiens_hsa049130.53284561
85cAMP signaling pathway_Homo sapiens_hsa040240.53269701
86AMPK signaling pathway_Homo sapiens_hsa041520.52542019
87Oxytocin signaling pathway_Homo sapiens_hsa049210.51828032
88Sulfur relay system_Homo sapiens_hsa041220.51250641
89Ras signaling pathway_Homo sapiens_hsa040140.51228176
90Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.48900678
91Calcium signaling pathway_Homo sapiens_hsa040200.48496949
92Starch and sucrose metabolism_Homo sapiens_hsa005000.46980699
93Salmonella infection_Homo sapiens_hsa051320.46926916
94Renin secretion_Homo sapiens_hsa049240.45860084
95Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.45049804
96Thyroid cancer_Homo sapiens_hsa052160.44731820
97Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42714687
98Sulfur metabolism_Homo sapiens_hsa009200.41744417
99PPAR signaling pathway_Homo sapiens_hsa033200.41437440
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.40941175
101Chemical carcinogenesis_Homo sapiens_hsa052040.40894376
102Endocytosis_Homo sapiens_hsa041440.40552741
103Cell cycle_Homo sapiens_hsa041100.39811196
104Cholinergic synapse_Homo sapiens_hsa047250.39746812
105Gastric acid secretion_Homo sapiens_hsa049710.39353750
106Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38772499
107Estrogen signaling pathway_Homo sapiens_hsa049150.38456804
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.38346431
109Insulin resistance_Homo sapiens_hsa049310.37856099
110Sphingolipid signaling pathway_Homo sapiens_hsa040710.37253156
111Choline metabolism in cancer_Homo sapiens_hsa052310.36624196
112Insulin signaling pathway_Homo sapiens_hsa049100.36110682
113Sphingolipid metabolism_Homo sapiens_hsa006000.36048476
114Arachidonic acid metabolism_Homo sapiens_hsa005900.31753713
115Pentose and glucuronate interconversions_Homo sapiens_hsa000400.31615013
116Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30747519
117VEGF signaling pathway_Homo sapiens_hsa043700.30633278
118Legionellosis_Homo sapiens_hsa051340.29842317
119Endometrial cancer_Homo sapiens_hsa052130.29835946
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.29617166
121Phospholipase D signaling pathway_Homo sapiens_hsa040720.29152811
122Renin-angiotensin system_Homo sapiens_hsa046140.27801249
123GnRH signaling pathway_Homo sapiens_hsa049120.26559697
124Complement and coagulation cascades_Homo sapiens_hsa046100.26302166
125mTOR signaling pathway_Homo sapiens_hsa041500.26187750
126Pertussis_Homo sapiens_hsa051330.25213899

Most similar genes based on co-expression Upload to Enrichr

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