LTBP2

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





Description: The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)7.35871365
2protein heterotrimerization (GO:0070208)7.06467232
3chondrocyte proliferation (GO:0035988)6.66424732
4sequestering of extracellular ligand from receptor (GO:0035581)6.51806863
5bone trabecula formation (GO:0060346)6.01758030
6endodermal cell differentiation (GO:0035987)5.96399272
7skin morphogenesis (GO:0043589)5.80905489
8cell adhesion mediated by integrin (GO:0033627)5.44792425
9wound healing, spreading of epidermal cells (GO:0035313)5.37917599
10positive regulation of endothelial cell apoptotic process (GO:2000353)5.35503443
11negative regulation of fatty acid transport (GO:2000192)5.06728442
12regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.77088235
13blood vessel maturation (GO:0001955)4.76296011
14collagen metabolic process (GO:0032963)4.66644115
15cellular response to vitamin (GO:0071295)4.63455861
16collagen catabolic process (GO:0030574)4.58346256
17hemidesmosome assembly (GO:0031581)4.56536807
18extracellular matrix assembly (GO:0085029)4.54069411
19dermatan sulfate biosynthetic process (GO:0030208)4.52389816
20extracellular fibril organization (GO:0043206)4.48358769
21peptidyl-proline hydroxylation (GO:0019511)4.48355976
22wound healing, spreading of cells (GO:0044319)4.47335920
23multicellular organismal macromolecule metabolic process (GO:0044259)4.37444768
24cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.36808446
25fibril organization (GO:0097435)4.26575150
26neuron projection extension involved in neuron projection guidance (GO:1902284)4.21671815
27axon extension involved in axon guidance (GO:0048846)4.21671815
28multicellular organismal catabolic process (GO:0044243)4.19098049
29mesenchymal-epithelial cell signaling (GO:0060638)4.17642912
30dermatan sulfate metabolic process (GO:0030205)4.12313526
31multicellular organismal metabolic process (GO:0044236)4.11108042
32extracellular matrix disassembly (GO:0022617)4.10563709
33adhesion of symbiont to host cell (GO:0044650)3.98330420
34virion attachment to host cell (GO:0019062)3.98330420
35apoptotic cell clearance (GO:0043277)3.97809295
36cellular response to vitamin D (GO:0071305)3.91151596
37epithelial cell-cell adhesion (GO:0090136)3.86167392
38negative regulation of smooth muscle cell migration (GO:0014912)3.85660625
39craniofacial suture morphogenesis (GO:0097094)3.79470998
40regulation of plasminogen activation (GO:0010755)3.79111571
41positive regulation of blood vessel endothelial cell migration (GO:0043536)3.76014576
42protein hydroxylation (GO:0018126)3.72735289
43regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.71748096
44metanephric mesenchyme development (GO:0072075)3.71129523
45cellular response to interferon-alpha (GO:0035457)3.69375443
46negative regulation of fibrinolysis (GO:0051918)3.67561412
47basement membrane organization (GO:0071711)3.65639469
48regulation of tight junction assembly (GO:2000810)3.62604683
49positive regulation of fibroblast migration (GO:0010763)3.56651535
50retina vasculature morphogenesis in camera-type eye (GO:0061299)3.54639945
51lymphangiogenesis (GO:0001946)3.51870376
52epoxygenase P450 pathway (GO:0019373)3.48549719
53endocardial cushion development (GO:0003197)3.48430170
54negative regulation of adherens junction organization (GO:1903392)3.48010016
55negative regulation of focal adhesion assembly (GO:0051895)3.48010016
56negative regulation of cell junction assembly (GO:1901889)3.48010016
57substrate-dependent cell migration (GO:0006929)3.47086273
58barbed-end actin filament capping (GO:0051016)3.46730175
59positive regulation of epithelial to mesenchymal transition (GO:0010718)3.45453818
60negative regulation of chondrocyte differentiation (GO:0032331)3.41797220
61kidney mesenchyme development (GO:0072074)3.38911850
62extracellular matrix organization (GO:0030198)3.37910231
63extracellular structure organization (GO:0043062)3.36524285
64venous blood vessel morphogenesis (GO:0048845)3.36487315
65extracellular regulation of signal transduction (GO:1900115)3.34621979
66extracellular negative regulation of signal transduction (GO:1900116)3.34621979
67adhesion of symbiont to host (GO:0044406)3.31731518
68vascular endothelial growth factor signaling pathway (GO:0038084)3.30995971
69plasma membrane repair (GO:0001778)3.30764083
70glomerular basement membrane development (GO:0032836)3.30452335
71protein localization to cell surface (GO:0034394)3.25537401
72keratan sulfate catabolic process (GO:0042340)3.24936248
73dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.24130054
74vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.23996420
75tooth mineralization (GO:0034505)3.19955464
76stress fiber assembly (GO:0043149)3.12614644
77peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.10012871
78positive regulation of osteoblast proliferation (GO:0033690)3.08505311
79endothelial cell morphogenesis (GO:0001886)3.08256529
80maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.06927452
81planar cell polarity pathway involved in neural tube closure (GO:0090179)3.06490942
82positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.06237237
83substrate adhesion-dependent cell spreading (GO:0034446)3.05996487
84positive regulation of natural killer cell differentiation (GO:0032825)3.05191012
85omega-hydroxylase P450 pathway (GO:0097267)3.04772562
86cellular response to amino acid stimulus (GO:0071230)3.04409745
87response to fluid shear stress (GO:0034405)3.03793325
88protein retention in ER lumen (GO:0006621)3.02917449
89negative regulation of embryonic development (GO:0045992)3.02244555
90cell-substrate junction assembly (GO:0007044)3.01194228
91positive regulation of extracellular matrix organization (GO:1903055)3.00374258
92protein localization to endosome (GO:0036010)2.99760510
93heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.99723608
94cellular response to nutrient (GO:0031670)2.96306814
95negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.96136200
96regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.95629142
97cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.94810353
98smooth muscle tissue development (GO:0048745)2.92452990
99cell migration involved in heart development (GO:0060973)2.90410848
100regulation of extracellular matrix disassembly (GO:0010715)2.90097720
101cranial suture morphogenesis (GO:0060363)2.89326769
102type B pancreatic cell proliferation (GO:0044342)2.87811355
103chondroitin sulfate biosynthetic process (GO:0030206)2.87112736
104positive regulation of macrophage activation (GO:0043032)2.85941942
105Golgi transport vesicle coating (GO:0048200)2.84644469
106COPI coating of Golgi vesicle (GO:0048205)2.84644469
107chondrocyte development (GO:0002063)2.84554972
108regulation of integrin-mediated signaling pathway (GO:2001044)2.83884992
109regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.83803676
110cell migration involved in sprouting angiogenesis (GO:0002042)2.83149582
111negative regulation of cartilage development (GO:0061037)2.82286455
112wound healing (GO:0042060)2.81747651
113hyaluronan catabolic process (GO:0030214)2.81677401
114protein targeting to plasma membrane (GO:0072661)2.80849960
115outer ear morphogenesis (GO:0042473)2.80384929
116sprouting angiogenesis (GO:0002040)2.80102393
117negative regulation of cell-matrix adhesion (GO:0001953)2.78720207
118positive regulation of collagen biosynthetic process (GO:0032967)2.78100363
119positive regulation of receptor recycling (GO:0001921)2.77203162
120regulation of collagen metabolic process (GO:0010712)2.74042240
121regulation of smooth muscle cell migration (GO:0014910)2.69822352
122negative regulation of BMP signaling pathway (GO:0030514)2.69328526
123atrioventricular valve morphogenesis (GO:0003181)2.68028926
124negative regulation of nitric-oxide synthase activity (GO:0051001)2.65836891
125adherens junction assembly (GO:0034333)2.64171428
126regulation of transforming growth factor beta1 production (GO:0032908)2.61329856
127cell proliferation involved in metanephros development (GO:0072203)2.60842292
128hypotonic response (GO:0006971)2.60759957
129cell-substrate adhesion (GO:0031589)2.60086277
130regulation of glomerular filtration (GO:0003093)2.59982125
131regulation of cartilage development (GO:0061035)2.59836076

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.21201923
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.06012614
3RARG_19884340_ChIP-ChIP_MEFs_Mouse5.31085436
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.49588686
5RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.21110981
6CLOCK_20551151_ChIP-Seq_293T_Human3.08011220
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.99970136
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.64691058
9CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.55276550
10TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.53832934
11* CJUN_26792858_Chip-Seq_BT549_Human2.51855121
12CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.30302567
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.29201212
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.23906543
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.13725675
16WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.12502638
17* BRD4_25478319_ChIP-Seq_HGPS_Human2.08142569
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.99187802
19* ELK3_25401928_ChIP-Seq_HUVEC_Human1.96842144
20EP300_21415370_ChIP-Seq_HL-1_Mouse1.94210757
21HIF1A_21447827_ChIP-Seq_MCF-7_Human1.94030081
22NRF2_20460467_ChIP-Seq_MEFs_Mouse1.90425074
23NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.90425074
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.87906534
25* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.82602301
26ESR1_21235772_ChIP-Seq_MCF-7_Human1.78757089
27PPAR_26484153_Chip-Seq_NCI-H1993_Human1.75453322
28SMC1_22415368_ChIP-Seq_MEFs_Mouse1.71855350
29NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.67671846
30TP53_20018659_ChIP-ChIP_R1E_Mouse1.67325143
31ESR1_15608294_ChIP-ChIP_MCF-7_Human1.65415615
32TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61275279
33* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.60660147
34* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.60660147
35STAT6_21828071_ChIP-Seq_BEAS2B_Human1.59482088
36P300_27058665_Chip-Seq_ZR-75-30cells_Human1.58857010
37* TP53_23651856_ChIP-Seq_MEFs_Mouse1.55864040
38* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.54420306
39PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.53984041
40ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.52594185
41RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.47246057
42TP53_22127205_ChIP-Seq_IMR90_Human1.47127458
43* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.45038924
44ATF3_27146783_Chip-Seq_COLON_Human1.44856294
45TP53_16413492_ChIP-PET_HCT116_Human1.44061303
46UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.40297699
47TP53_18474530_ChIP-ChIP_U2OS_Human1.39471457
48SOX9_24532713_ChIP-Seq_HFSC_Mouse1.38505793
49TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.36733912
50UBF1/2_26484160_Chip-Seq_HMECs_Human1.36610750
51* EED_16625203_ChIP-ChIP_MESCs_Mouse1.35340735
52SOX2_20726797_ChIP-Seq_SW620_Human1.33094121
53CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.30755010
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30162802
55* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.30107420
56* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.30107420
57CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27055986
58ZFP281_18757296_ChIP-ChIP_E14_Mouse1.26364881
59RACK7_27058665_Chip-Seq_MCF-7_Human1.25176654
60TBX20_22080862_ChIP-Seq_HEART_Mouse1.24640832
61TBX20_22328084_ChIP-Seq_HEART_Mouse1.24640832
62* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.24197775
63HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.23849951
64SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.22649406
65* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.22342222
66* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20542319
67FOXO3_23340844_ChIP-Seq_DLD1_Human1.20525782
68KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.18893964
69* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.17626622
70* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.17454613
71* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.17019974
72* SMAD_19615063_ChIP-ChIP_OVARY_Human1.16376781
73* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.12554408
74GATA2_21666600_ChIP-Seq_HMVEC_Human1.10974509
75MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.10048428
76LXR_22292898_ChIP-Seq_THP-1_Human1.09753243
77ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.08036353
78Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.06937121
79NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06836177
80* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.04657641
81* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.04374851
82KDM2B_26808549_Chip-Seq_K562_Human1.02445842
83FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.02369404
84* SA1_22415368_ChIP-Seq_MEFs_Mouse1.02047244
85FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.01273318
86SALL4_18804426_ChIP-ChIP_XEN_Mouse1.00419397
87TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.99708970
88THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98878106
89PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.97999220
90NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97942898
91CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97236798
92* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.96806900
93KLF5_25053715_ChIP-Seq_YYC3_Human0.94859266
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.94852861
95ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94852390
96NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.94745122
97DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94496325
98* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93590803
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.93295073
100* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.92994952
101NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.92830017
102ISL1_27105846_Chip-Seq_CPCs_Mouse0.92276959
103TET1_21490601_ChIP-Seq_MESCs_Mouse0.92012141
104* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90563462
105KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.90368668
106KDM2B_26808549_Chip-Seq_DND41_Human0.90277243
107NFI_21473784_ChIP-Seq_ESCs_Mouse0.89778123
108EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.88396765
109RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.88008327
110ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.87532247
111AHR_22903824_ChIP-Seq_MCF-7_Human0.86887231
112ELK1_22589737_ChIP-Seq_MCF10A_Human0.85234553
113SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.84907609
114TP63_23658742_ChIP-Seq_EP156T_Human0.83671704

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.23163336
2MP0005275_abnormal_skin_tensile5.86510430
3MP0005503_abnormal_tendon_morphology5.45494730
4MP0003279_aneurysm4.75374415
5MP0003705_abnormal_hypodermis_morpholog4.68183674
6MP0001958_emphysema3.76844683
7MP0009384_cardiac_valve_regurgitation2.88647311
8MP0005623_abnormal_meninges_morphology2.64422433
9MP0004272_abnormal_basement_membrane2.51290653
10MP0006054_spinal_hemorrhage2.47282810
11MP0003566_abnormal_cell_adhesion2.43131243
12MP0005257_abnormal_intraocular_pressure2.38316541
13MP0002295_abnormal_pulmonary_circulatio2.35313900
14MP0005508_abnormal_skeleton_morphology2.21367525
15MP0010352_gastrointestinal_tract_polyps2.19714584
16MP0005023_abnormal_wound_healing2.18696005
17MP0002060_abnormal_skin_morphology2.17978179
18MP0003091_abnormal_cell_migration1.88703932
19MP0003950_abnormal_plasma_membrane1.84374108
20MP0001348_abnormal_lacrimal_gland1.82733018
21MP0000013_abnormal_adipose_tissue1.67579186
22MP0001243_abnormal_dermal_layer1.66505935
23MP0001542_abnormal_bone_strength1.62949477
24MP0002108_abnormal_muscle_morphology1.59765751
25MP0003283_abnormal_digestive_organ1.50479978
26MP0009250_abnormal_appendicular_skeleto1.49465818
27MP0004134_abnormal_chest_morphology1.47854049
28MP0003385_abnormal_body_wall1.46339445
29MP0010030_abnormal_orbit_morphology1.42728800
30MP0000767_abnormal_smooth_muscle1.38187109
31MP0003045_fibrosis1.34063423
32MP0005390_skeleton_phenotype1.33610831
33MP0002933_joint_inflammation1.33186282
34MP0004858_abnormal_nervous_system1.31479701
35MP0002896_abnormal_bone_mineralization1.31061610
36MP0009780_abnormal_chondrocyte_physiolo1.28361282
37MP0002877_abnormal_melanocyte_morpholog1.23584914
38MP0000733_abnormal_muscle_development1.22295555
39MP0001299_abnormal_eye_distance/1.20816885
40MP0002168_other_aberrant_phenotype1.17698080
41MP0002282_abnormal_trachea_morphology1.08349203
42MP0010368_abnormal_lymphatic_system1.08160729
43MP0000163_abnormal_cartilage_morphology1.03213113
44MP0000003_abnormal_adipose_tissue1.02296610
45MP0002932_abnormal_joint_morphology1.01141438
46MP0003828_pulmonary_edema0.99692781
47MP0002115_abnormal_skeleton_extremities0.98822568
48MP0002998_abnormal_bone_remodeling0.94292444
49MP0000749_muscle_degeneration0.94077310
50MP0000428_abnormal_craniofacial_morphol0.91708635
51MP0003115_abnormal_respiratory_system0.90454836
52MP0001533_abnormal_skeleton_physiology0.89358884
53MP0002113_abnormal_skeleton_development0.88729917
54MP0000750_abnormal_muscle_regeneration0.87884262
55MP0009053_abnormal_anal_canal0.85270757
56MP0005171_absent_coat_pigmentation0.84939879
57MP0003942_abnormal_urinary_system0.83972467
58MP0005165_increased_susceptibility_to0.83404633
59MP0002128_abnormal_blood_circulation0.82285642
60MP0003448_altered_tumor_morphology0.82098704
61MP0005409_darkened_coat_color0.81291755
62MP0005595_abnormal_vascular_smooth0.80972906
63MP0010386_abnormal_urinary_bladder0.79672511
64MP0003755_abnormal_palate_morphology0.79065727
65MP0003191_abnormal_cellular_cholesterol0.78714973
66MP0000534_abnormal_ureter_morphology0.78622954
67MP0003300_gastrointestinal_ulcer0.78360678
68MP0001614_abnormal_blood_vessel0.77218395
69MP0000858_altered_metastatic_potential0.76410236
70MP0009840_abnormal_foam_cell0.75643795
71MP0003795_abnormal_bone_structure0.74834281
72MP0005058_abnormal_lysosome_morphology0.74778824
73MP0005164_abnormal_response_to0.74089559
74MP0005076_abnormal_cell_differentiation0.73528769
75MP0000249_abnormal_blood_vessel0.73122147
76MP0005388_respiratory_system_phenotype0.72293553
77MP0002133_abnormal_respiratory_system0.72293553
78MP0004233_abnormal_muscle_weight0.70702265
79MP0000751_myopathy0.69796180
80MP0002089_abnormal_postnatal_growth/wei0.69255349
81MP0001177_atelectasis0.69131064
82MP0001175_abnormal_lung_morphology0.66508400
83MP0000759_abnormal_skeletal_muscle0.64780048
84MP0002233_abnormal_nose_morphology0.64321781
85MP0002254_reproductive_system_inflammat0.63693639
86MP0000432_abnormal_head_morphology0.63511853
87MP0002116_abnormal_craniofacial_bone0.61584747
88MP0000343_altered_response_to0.60966733
89MP0005197_abnormal_uvea_morphology0.59756530
90MP0005193_abnormal_anterior_eye0.59503209
91MP0000538_abnormal_urinary_bladder0.59439366
92MP0002925_abnormal_cardiovascular_devel0.59014826
93MP0002111_abnormal_tail_morphology0.58919266
94MP0001915_intracranial_hemorrhage0.58208696
95MP0002109_abnormal_limb_morphology0.57067504
96MP0005375_adipose_tissue_phenotype0.56946694
97MP0000049_abnormal_middle_ear0.56636032
98MP0004036_abnormal_muscle_relaxation0.56028341
99MP0010771_integument_phenotype0.54489194
100MP0005369_muscle_phenotype0.53764824
101MP0004087_abnormal_muscle_fiber0.53143664
102MP0001879_abnormal_lymphatic_vessel0.52416526
103MP0004084_abnormal_cardiac_muscle0.51869256
104MP0000467_abnormal_esophagus_morphology0.51119661
105MP0003935_abnormal_craniofacial_develop0.50850381
106MP0002837_dystrophic_cardiac_calcinosis0.50749433
107MP0000462_abnormal_digestive_system0.50567867
108MP0004883_abnormal_blood_vessel0.50015197
109MP0008004_abnormal_stomach_pH0.49655995
110MP0003941_abnormal_skin_development0.49417390
111MP0002177_abnormal_outer_ear0.49058361
112MP0008775_abnormal_heart_ventricle0.48901907
113MP0001849_ear_inflammation0.48652422
114MP0006138_congestive_heart_failure0.47895085
115MP0002114_abnormal_axial_skeleton0.46734400
116MP0002697_abnormal_eye_size0.45688665
117MP0000762_abnormal_tongue_morphology0.44761290

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.98743373
2Premature rupture of membranes (HP:0001788)9.53912523
3Peritonitis (HP:0002586)6.13817888
4Aortic dissection (HP:0002647)5.71291744
5Atrophic scars (HP:0001075)5.67076521
6Shallow orbits (HP:0000586)5.44221795
7Soft skin (HP:0000977)5.10064842
8Bladder diverticulum (HP:0000015)4.85004845
9Abnormality of dentin (HP:0010299)4.80102067
10Fragile skin (HP:0001030)4.76886817
11Aortic aneurysm (HP:0004942)4.67579572
12Dilatation of the ascending aorta (HP:0005111)4.60120085
13Broad metatarsal (HP:0001783)4.53274598
14Ankle contracture (HP:0006466)4.46847622
15Genu recurvatum (HP:0002816)4.35686080
16Cerebral aneurysm (HP:0004944)4.22144683
17Vertebral compression fractures (HP:0002953)4.15293133
18Biconcave vertebral bodies (HP:0004586)4.09988357
19Neonatal short-limb short stature (HP:0008921)3.85462838
20Blue sclerae (HP:0000592)3.79345400
21Bowel diverticulosis (HP:0005222)3.78195803
22Wormian bones (HP:0002645)3.77841054
23Cervical subluxation (HP:0003308)3.71107211
24Mitral valve prolapse (HP:0001634)3.61172260
25Vascular tortuosity (HP:0004948)3.43055980
26Infantile muscular hypotonia (HP:0008947)3.29818664
27Abnormal delivery (HP:0001787)3.21874474
28Wrist flexion contracture (HP:0001239)3.21489293
29Spinal rigidity (HP:0003306)3.13310010
30Hyperextensible skin (HP:0000974)3.08810482
31Overgrowth (HP:0001548)3.03286342
32Follicular hyperkeratosis (HP:0007502)2.96146092
33Abnormality of the acetabulum (HP:0003170)2.94718143
34Type 1 muscle fiber predominance (HP:0003803)2.89673965
35Arterial tortuosity (HP:0005116)2.73225948
36Abnormality of the peritoneum (HP:0002585)2.72829417
37Aneurysm (HP:0002617)2.72274664
38Increased connective tissue (HP:0009025)2.71704765
39Thin bony cortex (HP:0002753)2.61725368
40Elbow flexion contracture (HP:0002987)2.57958566
41Breech presentation (HP:0001623)2.56889678
42Camptodactyly of toe (HP:0001836)2.51585720
43Deviation of the hallux (HP:0010051)2.51475487
44Joint laxity (HP:0001388)2.46873280
45Broad ribs (HP:0000885)2.46459316
46* Ectopia lentis (HP:0001083)2.45862010
47Hallux valgus (HP:0001822)2.44044850
48Round ear (HP:0100830)2.41242924
49Nonimmune hydrops fetalis (HP:0001790)2.40091294
50Mitral regurgitation (HP:0001653)2.39306215
51* Aortic valve stenosis (HP:0001650)2.36304751
52* Joint stiffness (HP:0001387)2.36188631
53Wide anterior fontanel (HP:0000260)2.32418116
54Spondylolisthesis (HP:0003302)2.31255292
55Increased variability in muscle fiber diameter (HP:0003557)2.28110303
56Tibial bowing (HP:0002982)2.23286422
57Osteoarthritis (HP:0002758)2.22794044
58Coxa vara (HP:0002812)2.22748015
59Slender build (HP:0001533)2.21532108
60Hypoventilation (HP:0002791)2.21218970
61Upper limb amyotrophy (HP:0009129)2.21163050
62Distal upper limb amyotrophy (HP:0007149)2.21163050
63Short nail (HP:0001799)2.19753219
64Pulmonary artery stenosis (HP:0004415)2.16214657
65Ovoid vertebral bodies (HP:0003300)2.14887632
66Mildly elevated creatine phosphokinase (HP:0008180)2.13699587
67Venous abnormality (HP:0002624)2.11070576
68Buphthalmos (HP:0000557)2.10140141
69Natal tooth (HP:0000695)2.09076661
70Venous insufficiency (HP:0005293)2.05907175
71Generalized amyotrophy (HP:0003700)2.05741715
72Cardiovascular calcification (HP:0011915)2.05012950
73Osteolytic defects of the hand bones (HP:0009699)2.04064534
74Osteolytic defects of the phalanges of the hand (HP:0009771)2.04064534
75Aortic regurgitation (HP:0001659)2.00766697
76Hypoplasia of the iris (HP:0007676)1.99976040
77Beaking of vertebral bodies (HP:0004568)1.97417892
78Mild short stature (HP:0003502)1.97411138
79Joint contractures involving the joints of the feet (HP:0100492)1.96543836
80Flexion contracture of toe (HP:0005830)1.96543836
81Femoral bowing (HP:0002980)1.95877592
82Abnormality of skeletal muscle fiber size (HP:0012084)1.94256522
83Mesomelia (HP:0003027)1.93360176
84Morphological abnormality of the middle ear (HP:0008609)1.90534844
85Osteopenia (HP:0000938)1.87383303
86Protruding ear (HP:0000411)1.87100750
87Limited hip movement (HP:0008800)1.86766130
88Broad long bones (HP:0005622)1.85378227
89Hand muscle atrophy (HP:0009130)1.85048166
90Platyspondyly (HP:0000926)1.85003339
91Ulnar bowing (HP:0003031)1.84413444
92Ulnar deviation of the wrist (HP:0003049)1.83966810
93Thin skin (HP:0000963)1.83766591
94Flat cornea (HP:0007720)1.82622931
95Disproportionate tall stature (HP:0001519)1.82487166
96Decreased skull ossification (HP:0004331)1.79832192
97Delayed closure of the anterior fontanelle (HP:0001476)1.79237718
98Knee flexion contracture (HP:0006380)1.78166445
99Inguinal hernia (HP:0000023)1.77915101
100Long toe (HP:0010511)1.77279257
101Absent frontal sinuses (HP:0002688)1.76420741
102Radial bowing (HP:0002986)1.76313398
103Spinal cord compression (HP:0002176)1.75244456
104Emphysema (HP:0002097)1.75093289
105Increased density of long bones (HP:0006392)1.73945874
106Mitral stenosis (HP:0001718)1.73910277
107Bell-shaped thorax (HP:0001591)1.73195258
108Striae distensae (HP:0001065)1.73181887
109Abnormality of skull ossification (HP:0002703)1.71702790
110Delayed cranial suture closure (HP:0000270)1.71502992
111Right ventricular cardiomyopathy (HP:0011663)1.71057533
112Hip contracture (HP:0003273)1.71051168
113Bowing of the arm (HP:0006488)1.70557408
114Bowed forearm bones (HP:0003956)1.70557408
115Coronal craniosynostosis (HP:0004440)1.69252188
116Difficulty climbing stairs (HP:0003551)1.69083722
117Tarsal synostosis (HP:0008368)1.67369915
118Distal lower limb muscle weakness (HP:0009053)1.64745098
119Renal duplication (HP:0000075)1.64632269
120Scapular winging (HP:0003691)1.64291318
121Flared iliac wings (HP:0002869)1.63938411
122Abnormality of the calcaneus (HP:0008364)1.61194460

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.57698820
2DDR24.27678628
3LATS24.14556447
4TTN4.06953607
5ERN13.70132295
6PDGFRA3.67978167
7PKN23.05624803
8TIE12.94135935
9LATS12.77627890
10SIK12.17389660
11EPHB22.15527056
12PAK22.09505534
13EPHA22.02625678
14RIPK12.01076368
15PTK21.99515379
16EPHA31.96737455
17BMX1.86140199
18PAK31.84195413
19FER1.77126446
20PIM21.65004500
21TESK11.60099359
22TRPM71.55880965
23PTK61.38964446
24PTK2B1.37908624
25LRRK21.37160558
26MAP3K61.35138036
27PAK41.34753871
28EPHB11.33487884
29RPS6KA21.21752568
30MYLK1.21139197
31RPS6KA41.18745721
32PDGFRB1.17726336
33TGFBR21.16607983
34NTRK11.14900804
35PIK3CG1.14369671
36MOS1.13237184
37LIMK11.12863692
38DMPK1.08022046
39KIT1.03478823
40TGFBR11.02557731
41MST1R1.02086539
42STK31.01817337
43PIK3CA0.99535348
44MTOR0.98922373
45MAPK70.97752900
46FGFR10.96935251
47MAP2K10.89940783
48ROCK10.89164065
49MET0.88062469
50ILK0.87011942
51NEK90.85687900
52EEF2K0.85632583
53ICK0.85442280
54PRKD20.85231720
55ABL20.81965292
56DAPK30.81743206
57MUSK0.78931913
58RET0.78684266
59STK38L0.77694056
60MAP3K30.76202383
61PRKCH0.75247893
62PRPF4B0.74933622
63TAOK10.74427507
64INSR0.70388837
65IRAK30.70046635
66CDC42BPA0.69761530
67FLT30.69716331
68ARAF0.69584472
69PRKD10.69558734
70NME20.69408775
71ZAP700.66221041
72PAK10.65007000
73AKT30.61079355
74ERBB40.60858790
75MAPKAPK30.60633948
76MAP3K70.60463684
77FGFR40.60137265
78GSK3A0.59884790
79GRK70.58665968
80JAK10.58072796
81CAMK1D0.57761797
82MARK20.57479396
83CAMKK10.57306219
84ROCK20.57177128
85FRK0.56433443
86PLK20.54898199
87ERBB30.54566007
88CDK60.54467487
89RPS6KL10.54373539
90RPS6KC10.54373539
91TYK20.52467343
92SMG10.51763874
93KDR0.50858219
94CLK10.48416467
95MAPKAPK50.48307900
96MAP2K30.48298016
97MAP3K100.48111770
98MELK0.47467239
99CDK120.47219792
100GRK50.45263662
101TAOK20.44859433
102SRC0.44350873
103PRKD30.44209413
104PRKG20.42515223
105PAK60.42357586
106DYRK1B0.41352523
107CAMK1G0.40000094
108LMTK20.39735696
109KSR20.39678309
110SCYL20.38322549
111MATK0.37023515
112RPS6KA60.37007033
113MAP3K80.33613519
114ADRBK10.33586475
115TBK10.33000693
116CDK140.32549246
117ERBB20.32246249
118CDK150.31827854
119CAMKK20.31636154
120JAK30.31174905
121PDPK10.30713622
122STK380.30309015
123PRKCE0.30127301
124ABL10.29025801
125MAPKAPK20.27460047
126WNK10.26632456
127MAPK10.26288937
128PDK20.26111136
129CDK180.26006994
130CDK11A0.26005644
131PDK30.24745287

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.87979246
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.44313849
3Focal adhesion_Homo sapiens_hsa045103.37203405
4Bladder cancer_Homo sapiens_hsa052192.71567424
5Malaria_Homo sapiens_hsa051442.67144109
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.52737955
7Amoebiasis_Homo sapiens_hsa051462.52477870
8Protein digestion and absorption_Homo sapiens_hsa049742.51762933
9Proteoglycans in cancer_Homo sapiens_hsa052052.43661629
10Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.20147793
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.15112744
12Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.11116704
13Dilated cardiomyopathy_Homo sapiens_hsa054142.06607457
14Adherens junction_Homo sapiens_hsa045201.96931548
15TGF-beta signaling pathway_Homo sapiens_hsa043501.86194816
16Small cell lung cancer_Homo sapiens_hsa052221.80869141
17Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.77733208
18MicroRNAs in cancer_Homo sapiens_hsa052061.75424629
19PI3K-Akt signaling pathway_Homo sapiens_hsa041511.73651847
20Hippo signaling pathway_Homo sapiens_hsa043901.68741110
21p53 signaling pathway_Homo sapiens_hsa041151.62447479
22Chronic myeloid leukemia_Homo sapiens_hsa052201.56309066
23Other glycan degradation_Homo sapiens_hsa005111.52840451
24Melanoma_Homo sapiens_hsa052181.51175459
25Regulation of actin cytoskeleton_Homo sapiens_hsa048101.49210837
26Shigellosis_Homo sapiens_hsa051311.33486677
27Basal cell carcinoma_Homo sapiens_hsa052171.25129724
28Leukocyte transendothelial migration_Homo sapiens_hsa046701.25119116
29Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.23524478
30Phagosome_Homo sapiens_hsa041451.22822154
31TNF signaling pathway_Homo sapiens_hsa046681.21828642
32Pancreatic cancer_Homo sapiens_hsa052121.18843395
33Glioma_Homo sapiens_hsa052141.16533143
34Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.16048974
35Platelet activation_Homo sapiens_hsa046111.11181961
36Rap1 signaling pathway_Homo sapiens_hsa040151.08127478
37Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.03758558
38HIF-1 signaling pathway_Homo sapiens_hsa040661.03092909
39Pathways in cancer_Homo sapiens_hsa052001.00528160
40Prostate cancer_Homo sapiens_hsa052150.98875427
41Toxoplasmosis_Homo sapiens_hsa051450.97995247
42Hedgehog signaling pathway_Homo sapiens_hsa043400.95677327
43Glycosaminoglycan degradation_Homo sapiens_hsa005310.90876539
44Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.90414472
45Central carbon metabolism in cancer_Homo sapiens_hsa052300.89973026
46Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.85941295
47Tight junction_Homo sapiens_hsa045300.85719037
48Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.85093009
49HTLV-I infection_Homo sapiens_hsa051660.82429239
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.81856755
51Wnt signaling pathway_Homo sapiens_hsa043100.80889096
52Viral myocarditis_Homo sapiens_hsa054160.80259506
53Axon guidance_Homo sapiens_hsa043600.77509371
54cGMP-PKG signaling pathway_Homo sapiens_hsa040220.73669737
55Apoptosis_Homo sapiens_hsa042100.73666625
56Salmonella infection_Homo sapiens_hsa051320.73531145
57Lysosome_Homo sapiens_hsa041420.71871752
58Renal cell carcinoma_Homo sapiens_hsa052110.70105054
59Melanogenesis_Homo sapiens_hsa049160.69756333
60Estrogen signaling pathway_Homo sapiens_hsa049150.66385176
61Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.65185252
62Gap junction_Homo sapiens_hsa045400.64393802
63Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64062983
64Rheumatoid arthritis_Homo sapiens_hsa053230.63541454
65GnRH signaling pathway_Homo sapiens_hsa049120.63507641
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.63401312
67Leishmaniasis_Homo sapiens_hsa051400.63253272
68Hepatitis B_Homo sapiens_hsa051610.62093178
69Colorectal cancer_Homo sapiens_hsa052100.60417138
70Ovarian steroidogenesis_Homo sapiens_hsa049130.60006755
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.59778001
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.59197234
73VEGF signaling pathway_Homo sapiens_hsa043700.58950468
74Dorso-ventral axis formation_Homo sapiens_hsa043200.58199065
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58152818
76Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.57150896
77Vibrio cholerae infection_Homo sapiens_hsa051100.55891643
78mTOR signaling pathway_Homo sapiens_hsa041500.55810268
79Ras signaling pathway_Homo sapiens_hsa040140.55690988
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.55349060
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.54572655
82Endocytosis_Homo sapiens_hsa041440.53978877
83Adipocytokine signaling pathway_Homo sapiens_hsa049200.53893669
84Insulin resistance_Homo sapiens_hsa049310.53225655
85Endometrial cancer_Homo sapiens_hsa052130.52550109
86Thyroid cancer_Homo sapiens_hsa052160.51727705
87Osteoclast differentiation_Homo sapiens_hsa043800.51235873
88Sphingolipid signaling pathway_Homo sapiens_hsa040710.48732491
89FoxO signaling pathway_Homo sapiens_hsa040680.48517767
90Viral carcinogenesis_Homo sapiens_hsa052030.48503812
91N-Glycan biosynthesis_Homo sapiens_hsa005100.47771045
92ErbB signaling pathway_Homo sapiens_hsa040120.46479615
93Tuberculosis_Homo sapiens_hsa051520.44689773
94Sphingolipid metabolism_Homo sapiens_hsa006000.43936382
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.43832375
96Pertussis_Homo sapiens_hsa051330.43537800
97Thyroid hormone synthesis_Homo sapiens_hsa049180.43146791
98Renin secretion_Homo sapiens_hsa049240.43025832
99Renin-angiotensin system_Homo sapiens_hsa046140.42315496
100Prion diseases_Homo sapiens_hsa050200.42213175
101Choline metabolism in cancer_Homo sapiens_hsa052310.41841132
102Galactose metabolism_Homo sapiens_hsa000520.41257144
103AMPK signaling pathway_Homo sapiens_hsa041520.41019542
104Acute myeloid leukemia_Homo sapiens_hsa052210.39765848
105Non-small cell lung cancer_Homo sapiens_hsa052230.39195665
106MAPK signaling pathway_Homo sapiens_hsa040100.39191672
107Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.37980772
108Hepatitis C_Homo sapiens_hsa051600.37564225
109Notch signaling pathway_Homo sapiens_hsa043300.36219570
110Complement and coagulation cascades_Homo sapiens_hsa046100.33045930
111Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32423165
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31565247
113Prolactin signaling pathway_Homo sapiens_hsa049170.31405748
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30840120
115Insulin signaling pathway_Homo sapiens_hsa049100.29843963

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »