COL4A2

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





Description: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1basement membrane organization (GO:0071711)6.28297422
2retina vasculature morphogenesis in camera-type eye (GO:0061299)6.11050607
3vascular endothelial growth factor signaling pathway (GO:0038084)5.13160993
4protein heterotrimerization (GO:0070208)4.91545610
5plasma membrane repair (GO:0001778)4.49970449
6renal filtration (GO:0097205)4.43539590
7Notch signaling involved in heart development (GO:0061314)4.27069436
8glomerular filtration (GO:0003094)4.20483212
9collagen fibril organization (GO:0030199)4.18070927
10cellular response to vascular endothelial growth factor stimulus (GO:0035924)4.11686557
11endothelial cell morphogenesis (GO:0001886)3.99480580
12regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.99093246
13blood vessel maturation (GO:0001955)3.98980618
14sprouting angiogenesis (GO:0002040)3.98493978
15axon extension involved in axon guidance (GO:0048846)3.94905049
16neuron projection extension involved in neuron projection guidance (GO:1902284)3.94905049
17glomerular basement membrane development (GO:0032836)3.92456237
18cardiac myofibril assembly (GO:0055003)3.85910530
19cell migration involved in sprouting angiogenesis (GO:0002042)3.81227222
20lymph vessel development (GO:0001945)3.78341799
21chondrocyte proliferation (GO:0035988)3.74158267
22lymphangiogenesis (GO:0001946)3.67938689
23epithelial cell-cell adhesion (GO:0090136)3.66099910
24cell adhesion mediated by integrin (GO:0033627)3.63795723
25polarized epithelial cell differentiation (GO:0030859)3.61479765
26* endodermal cell differentiation (GO:0035987)3.55650483
27* collagen metabolic process (GO:0032963)3.53574319
28negative regulation of chondrocyte differentiation (GO:0032331)3.50708570
29hemidesmosome assembly (GO:0031581)3.50429655
30cell-substrate junction assembly (GO:0007044)3.49280434
31patterning of blood vessels (GO:0001569)3.48488509
32blood vessel endothelial cell migration (GO:0043534)3.47580177
33wound healing, spreading of epidermal cells (GO:0035313)3.43461635
34extracellular fibril organization (GO:0043206)3.40459228
35* collagen catabolic process (GO:0030574)3.39902446
36* multicellular organismal macromolecule metabolic process (GO:0044259)3.39188061
37hippo signaling (GO:0035329)3.31806796
38regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.29891566
39positive regulation of endothelial cell apoptotic process (GO:2000353)3.29222305
40regulation of cell migration involved in sprouting angiogenesis (GO:0090049)3.25353680
41adherens junction assembly (GO:0034333)3.24937091
42* extracellular matrix disassembly (GO:0022617)3.23862899
43apoptotic cell clearance (GO:0043277)3.23527264
44heart trabecula formation (GO:0060347)3.22331618
45stress fiber assembly (GO:0043149)3.20996931
46* multicellular organismal metabolic process (GO:0044236)3.20610751
47ovulation from ovarian follicle (GO:0001542)3.20304262
48branching involved in salivary gland morphogenesis (GO:0060445)3.20149338
49sarcomere organization (GO:0045214)3.19105215
50* multicellular organismal catabolic process (GO:0044243)3.16887967
51regulation of cardioblast differentiation (GO:0051890)3.10387020
52vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.09924017
53skin morphogenesis (GO:0043589)3.09851775
54regulation of tight junction assembly (GO:2000810)3.09408922
55negative regulation of blood vessel endothelial cell migration (GO:0043537)3.09385637
56insulin-like growth factor receptor signaling pathway (GO:0048009)3.08877259
57atrioventricular valve morphogenesis (GO:0003181)3.08239994
58substrate adhesion-dependent cell spreading (GO:0034446)3.07949825
59bone trabecula formation (GO:0060346)3.06322542
60myofibril assembly (GO:0030239)3.04168638
61planar cell polarity pathway involved in neural tube closure (GO:0090179)3.03782208
62endocardial cushion development (GO:0003197)3.02588663
63trabecula formation (GO:0060343)3.02198223
64kidney mesenchyme development (GO:0072074)2.97814428
65negative regulation of fatty acid transport (GO:2000192)2.96049869
66cell migration involved in heart development (GO:0060973)2.95637146
67fibril organization (GO:0097435)2.94581378
68morphogenesis of an endothelium (GO:0003159)2.92504911
69endothelial tube morphogenesis (GO:0061154)2.92504911
70dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.90307264
71low-density lipoprotein particle clearance (GO:0034383)2.90002908
72ventricular trabecula myocardium morphogenesis (GO:0003222)2.88665034
73establishment of apical/basal cell polarity (GO:0035089)2.88413341
74endothelial cell chemotaxis (GO:0035767)2.87696323
75regulation of p38MAPK cascade (GO:1900744)2.86734196
76regulation of endothelial cell differentiation (GO:0045601)2.85298582
77angiogenesis involved in wound healing (GO:0060055)2.82956467
78bundle of His cell to Purkinje myocyte communication (GO:0086069)2.82246144
79* extracellular matrix organization (GO:0030198)2.82136555
80regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.81861090
81venous blood vessel morphogenesis (GO:0048845)2.81098163
82* extracellular structure organization (GO:0043062)2.81049179
83positive regulation of endothelial cell migration (GO:0010595)2.80979618
84endothelial cell migration (GO:0043542)2.80205520
85negative regulation of cartilage development (GO:0061037)2.79773025
86endothelium development (GO:0003158)2.79387280
87sequestering of extracellular ligand from receptor (GO:0035581)2.79218900
88focal adhesion assembly (GO:0048041)2.78682186
89cell-substrate adherens junction assembly (GO:0007045)2.78682186
90paraxial mesoderm development (GO:0048339)2.78096259
91embryonic foregut morphogenesis (GO:0048617)2.77176794
92cytoskeletal anchoring at plasma membrane (GO:0007016)2.77159659
93endothelial cell differentiation (GO:0045446)2.76767118
94chondrocyte development (GO:0002063)2.76594867
95barbed-end actin filament capping (GO:0051016)2.75660694
96regulation of blood vessel endothelial cell migration (GO:0043535)2.74550434
97Golgi transport vesicle coating (GO:0048200)2.74087447
98COPI coating of Golgi vesicle (GO:0048205)2.74087447
99endocardial cushion morphogenesis (GO:0003203)2.73510354
100positive regulation of receptor recycling (GO:0001921)2.73415408
101fibroblast migration (GO:0010761)2.72281196
102regulation of axon extension involved in axon guidance (GO:0048841)2.72142150
103positive regulation of p38MAPK cascade (GO:1900745)2.71110501
104substrate-dependent cell migration (GO:0006929)2.70459432
105regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.70278989
106metanephric mesenchyme development (GO:0072075)2.69661353
107protein retention in ER lumen (GO:0006621)2.66259705
108vasculogenesis (GO:0001570)2.65696989
109actomyosin structure organization (GO:0031032)2.65289924
110regulation of SMAD protein import into nucleus (GO:0060390)2.64952179
111regulation of hippo signaling (GO:0035330)2.64694287
112aorta morphogenesis (GO:0035909)2.64281942
113positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.63938519
114surfactant homeostasis (GO:0043129)2.63676993
115positive regulation of osteoblast proliferation (GO:0033690)2.63115842
116positive regulation of blood vessel endothelial cell migration (GO:0043536)2.62932201
117endothelial cell proliferation (GO:0001935)2.62610422
118artery morphogenesis (GO:0048844)2.62416163
119extracellular matrix assembly (GO:0085029)2.60373208
120cell surface receptor signaling pathway involved in heart development (GO:0061311)2.60049733
121negative regulation of smooth muscle cell migration (GO:0014912)2.59724071
122cellular response to vitamin (GO:0071295)2.58757169
123maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.58168951
124protein localization to cell surface (GO:0034394)2.57890092
125protein localization to endosome (GO:0036010)2.56266699
126positive regulation of glycogen biosynthetic process (GO:0045725)2.55830028
127blood vessel morphogenesis (GO:0048514)2.55530172
128cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.55483155
129wound healing, spreading of cells (GO:0044319)2.53950670
130peptidyl-proline hydroxylation (GO:0019511)2.51861495
131negative regulation of catenin import into nucleus (GO:0035414)2.51342696
132semaphorin-plexin signaling pathway (GO:0071526)2.51296196
133cardiac muscle cell proliferation (GO:0060038)2.50390340
134glomerular visceral epithelial cell development (GO:0072015)2.50148438
135mesodermal cell differentiation (GO:0048333)2.49812168

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.52586213
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.96798785
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.87313661
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.80787555
5* CLOCK_20551151_ChIP-Seq_293T_Human3.54490808
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.95940521
7* EP300_21415370_ChIP-Seq_HL-1_Mouse2.55657309
8TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.53936522
9EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.41048506
10PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.25578067
11ELK3_25401928_ChIP-Seq_HUVEC_Human2.23169812
12RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.22155254
13* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.18622105
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.08119938
15HIF1A_21447827_ChIP-Seq_MCF-7_Human2.06806079
16GATA2_21666600_ChIP-Seq_HMVEC_Human2.02684491
17TBX20_22080862_ChIP-Seq_HEART_Mouse1.94984554
18TBX20_22328084_ChIP-Seq_HEART_Mouse1.94984554
19WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.94426273
20ZNF263_19887448_ChIP-Seq_K562_Human1.94268345
21STAT6_21828071_ChIP-Seq_BEAS2B_Human1.91069115
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.88618358
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.84109007
24PPAR_26484153_Chip-Seq_NCI-H1993_Human1.83693967
25CJUN_26792858_Chip-Seq_BT549_Human1.82699428
26KDM2B_26808549_Chip-Seq_SUP-B15_Human1.81936057
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.81899410
28NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.80573027
29CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.72114777
30STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.71457126
31* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.60405921
32WT1_19549856_ChIP-ChIP_CCG9911_Human1.59980940
33* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.59604366
34* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.58222295
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.55457680
36* BRD4_25478319_ChIP-Seq_HGPS_Human1.54498501
37P300_27058665_Chip-Seq_ZR-75-30cells_Human1.52872262
38CDX2_19796622_ChIP-Seq_MESCs_Mouse1.47655539
39CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.46850285
40RACK7_27058665_Chip-Seq_MCF-7_Human1.45122110
41SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.45022906
42ZFP281_18757296_ChIP-ChIP_E14_Mouse1.44747545
43SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.44521747
44SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.44521747
45KDM2B_26808549_Chip-Seq_K562_Human1.42819044
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.41465272
47FOXO3_23340844_ChIP-Seq_DLD1_Human1.40731185
48* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.39043756
49SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.37195371
50* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.36517199
51ESR1_20079471_ChIP-ChIP_T-47D_Human1.36076666
52ISL1_27105846_Chip-Seq_CPCs_Mouse1.34680680
53KDM2B_26808549_Chip-Seq_DND41_Human1.32726598
54* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31370643
55* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30604482
56ATF3_27146783_Chip-Seq_COLON_Human1.30040837
57DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.29537429
58MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.29198560
59* UBF1/2_26484160_Chip-Seq_HMECs_Human1.29144947
60RNF2_27304074_Chip-Seq_ESCs_Mouse1.28656708
61* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.25879839
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.25755134
63UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.25302734
64* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.24945177
65HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.24841053
66JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23653776
67NFIB_24661679_ChIP-Seq_LUNG_Mouse1.23493112
68EGR1_19374776_ChIP-ChIP_THP-1_Human1.23121768
69LXR_22292898_ChIP-Seq_THP-1_Human1.22878679
70* TP53_20018659_ChIP-ChIP_R1E_Mouse1.21883128
71TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21640817
72ZFP281_27345836_Chip-Seq_ESCs_Mouse1.21447926
73ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.20471183
74SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20184336
75TP53_18474530_ChIP-ChIP_U2OS_Human1.18978447
76ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18501646
77SMC1_22415368_ChIP-Seq_MEFs_Mouse1.16894196
78KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.16436344
79TP53_16413492_ChIP-PET_HCT116_Human1.16397674
80ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15647411
81TP53_22127205_ChIP-Seq_IMR90_Human1.14658780
82* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14557814
83* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14287380
84* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14287380
85FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.13699881
86POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.12365084
87KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.12291965
88SA1_22415368_ChIP-Seq_MEFs_Mouse1.10697723
89NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.09759684
90KDM2B_26808549_Chip-Seq_JURKAT_Human1.09478146
91* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.09084281
92* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07910735
93NRF2_20460467_ChIP-Seq_MEFs_Mouse1.07755726
94NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.07755726
95* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.07197051
96* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.07088856
97RUNX1_27514584_Chip-Seq_MCF-7_Human1.06123788
98* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.05057479
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.04958293
100TP53_23651856_ChIP-Seq_MEFs_Mouse1.04415087
101JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.03961698
102* EED_16625203_ChIP-ChIP_MESCs_Mouse1.02373780
103* EZH2_27304074_Chip-Seq_ESCs_Mouse1.02138741
104* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.01673971
105* SOX2_20726797_ChIP-Seq_SW620_Human1.01065572
106NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99795281
107SMAD_19615063_ChIP-ChIP_OVARY_Human0.98873350
108CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97178320
109RING1B_27294783_Chip-Seq_NPCs_Mouse0.96998994
110RING1B_27294783_Chip-Seq_ESCs_Mouse0.96749463
111* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.96716743
112* TET1_21490601_ChIP-Seq_MESCs_Mouse0.96713826
113BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.96122981
114GATA1_19941826_ChIP-Seq_K562_Human0.96117048
115AHR_22903824_ChIP-Seq_MCF-7_Human0.95943621
116SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.95579889
117OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94739201
118ERG_21242973_ChIP-ChIP_JURKAT_Human0.94063116
119* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.91390740
120* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91267847
121* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.90506267

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.94177463
2* MP0004272_abnormal_basement_membrane4.97233780
3MP0010368_abnormal_lymphatic_system3.84901684
4MP0005275_abnormal_skin_tensile3.74308912
5MP0003705_abnormal_hypodermis_morpholog3.62811493
6MP0005623_abnormal_meninges_morphology3.28982077
7MP0003279_aneurysm3.13052578
8MP0005503_abnormal_tendon_morphology2.92389287
9MP0004084_abnormal_cardiac_muscle2.84114578
10MP0001958_emphysema2.77860874
11MP0001879_abnormal_lymphatic_vessel2.60795182
12MP0000751_myopathy2.56073343
13MP0003566_abnormal_cell_adhesion2.38845271
14MP0006054_spinal_hemorrhage2.26710267
15MP0002837_dystrophic_cardiac_calcinosis1.99586423
16MP0006138_congestive_heart_failure1.82861351
17MP0005167_abnormal_blood-brain_barrier1.75051342
18MP0000013_abnormal_adipose_tissue1.73360447
19MP0000767_abnormal_smooth_muscle1.69670870
20MP0003828_pulmonary_edema1.65561333
21MP0000750_abnormal_muscle_regeneration1.64044986
22MP0003091_abnormal_cell_migration1.62287250
23MP0004036_abnormal_muscle_relaxation1.62108942
24MP0005330_cardiomyopathy1.61367059
25MP0002295_abnormal_pulmonary_circulatio1.48535393
26MP0004087_abnormal_muscle_fiber1.47125102
27MP0008775_abnormal_heart_ventricle1.46265882
28MP0003941_abnormal_skin_development1.44455462
29MP0004215_abnormal_myocardial_fiber1.44391981
30MP0009384_cardiac_valve_regurgitation1.43675783
31MP0000733_abnormal_muscle_development1.42725671
32MP0001849_ear_inflammation1.41086876
33MP0010630_abnormal_cardiac_muscle1.40106569
34MP0003385_abnormal_body_wall1.38185446
35MP0005409_darkened_coat_color1.37576512
36MP0005670_abnormal_white_adipose1.36476135
37MP0010352_gastrointestinal_tract_polyps1.36224770
38MP0001544_abnormal_cardiovascular_syste1.36179523
39MP0005385_cardiovascular_system_phenoty1.36179523
40MP0005508_abnormal_skeleton_morphology1.34314813
41MP0000749_muscle_degeneration1.33527411
42MP0002108_abnormal_muscle_morphology1.32088917
43MP0003045_fibrosis1.31223778
44MP0002060_abnormal_skin_morphology1.31178964
45MP0005023_abnormal_wound_healing1.30695132
46MP0000003_abnormal_adipose_tissue1.27891490
47MP0001542_abnormal_bone_strength1.24697808
48MP0000537_abnormal_urethra_morphology1.22149377
49MP0002972_abnormal_cardiac_muscle1.21414136
50* MP0002128_abnormal_blood_circulation1.20274712
51MP0004130_abnormal_muscle_cell1.18693456
52MP0002925_abnormal_cardiovascular_devel1.17010915
53MP0005375_adipose_tissue_phenotype1.14945905
54MP0003115_abnormal_respiratory_system1.14786494
55MP0003283_abnormal_digestive_organ1.14031002
56MP0002896_abnormal_bone_mineralization1.13720531
57MP0001299_abnormal_eye_distance/1.12467306
58MP0005666_abnormal_adipose_tissue1.11873836
59* MP0001614_abnormal_blood_vessel1.11532989
60MP0000534_abnormal_ureter_morphology1.11290488
61MP0005620_abnormal_muscle_contractility1.10599148
62MP0001915_intracranial_hemorrhage1.10528898
63MP0004185_abnormal_adipocyte_glucose1.07115376
64MP0000762_abnormal_tongue_morphology1.06303462
65MP0003950_abnormal_plasma_membrane1.05210609
66MP0005197_abnormal_uvea_morphology1.00460244
67MP0000462_abnormal_digestive_system1.00156591
68MP0003567_abnormal_fetal_cardiomyocyte0.97408865
69MP0010030_abnormal_orbit_morphology0.96776883
70MP0000759_abnormal_skeletal_muscle0.96491988
71* MP0000266_abnormal_heart_morphology0.95771229
72MP0005595_abnormal_vascular_smooth0.94828232
73MP0005257_abnormal_intraocular_pressure0.94032013
74MP0002106_abnormal_muscle_physiology0.90720772
75MP0009053_abnormal_anal_canal0.90288611
76MP0005369_muscle_phenotype0.89988031
77MP0000343_altered_response_to0.88855511
78MP0002877_abnormal_melanocyte_morpholog0.88736147
79MP0002168_other_aberrant_phenotype0.88690709
80MP0003122_maternal_imprinting0.87986523
81MP0005076_abnormal_cell_differentiation0.87298757
82MP0009278_abnormal_bone_marrow0.86169024
83MP0005165_increased_susceptibility_to0.84579771
84MP0003300_gastrointestinal_ulcer0.84020614
85MP0009250_abnormal_appendicular_skeleto0.82136534
86MP0003942_abnormal_urinary_system0.81902854
87MP0001243_abnormal_dermal_layer0.81808862
88MP0004484_altered_response_of0.81618272
89MP0002269_muscular_atrophy0.81330763
90MP0000428_abnormal_craniofacial_morphol0.80252470
91MP0002127_abnormal_cardiovascular_syste0.80251754
92MP0000049_abnormal_middle_ear0.79939097
93MP0003935_abnormal_craniofacial_develop0.78784023
94MP0004085_abnormal_heartbeat0.76876489
95MP0009780_abnormal_chondrocyte_physiolo0.75852956
96* MP0002697_abnormal_eye_size0.74423910
97MP0002933_joint_inflammation0.74137546
98MP0002092_abnormal_eye_morphology0.73910212
99MP0005164_abnormal_response_to0.73793021
100MP0004858_abnormal_nervous_system0.73586298
101MP0004145_abnormal_muscle_electrophysio0.73296163
102* MP0005193_abnormal_anterior_eye0.73215152
103MP0005388_respiratory_system_phenotype0.71909053
104MP0002133_abnormal_respiratory_system0.71909053
105MP0000249_abnormal_blood_vessel0.71763358
106MP0002932_abnormal_joint_morphology0.70954003
107MP0000465_gastrointestinal_hemorrhage0.70928200
108MP0003755_abnormal_palate_morphology0.69889032
109MP0001175_abnormal_lung_morphology0.69882874
110MP0010234_abnormal_vibrissa_follicle0.69809489
111MP0005171_absent_coat_pigmentation0.68502198
112MP0000747_muscle_weakness0.68338569
113MP0004233_abnormal_muscle_weight0.68275569
114MP0005390_skeleton_phenotype0.67366989
115MP0002282_abnormal_trachea_morphology0.66485995
116MP0003448_altered_tumor_morphology0.65771533
117MP0000432_abnormal_head_morphology0.65307330
118MP0000163_abnormal_cartilage_morphology0.64146005
119MP0002089_abnormal_postnatal_growth/wei0.56314228
120MP0002254_reproductive_system_inflammat0.56237600
121MP0002113_abnormal_skeleton_development0.56224391
122MP0001348_abnormal_lacrimal_gland0.55734618
123MP0000467_abnormal_esophagus_morphology0.55182788

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.73851136
2Premature rupture of membranes (HP:0001788)6.22147383
3Cerebral aneurysm (HP:0004944)6.18593522
4Ankle contracture (HP:0006466)4.76994910
5Broad metatarsal (HP:0001783)4.54637678
6Shallow orbits (HP:0000586)4.49917515
7Increased connective tissue (HP:0009025)4.25258508
8Aortic dissection (HP:0002647)4.19924389
9Atrophic scars (HP:0001075)3.95046192
10Type 1 muscle fiber predominance (HP:0003803)3.66857043
11Bladder diverticulum (HP:0000015)3.63446442
12Muscle fiber splitting (HP:0003555)3.56238241
13Aortic aneurysm (HP:0004942)3.47108628
14Spinal rigidity (HP:0003306)3.42456849
15Fragile skin (HP:0001030)3.39808551
16Soft skin (HP:0000977)3.26172758
17Aneurysm (HP:0002617)3.24846020
18Increased variability in muscle fiber diameter (HP:0003557)3.21538560
19Mitral valve prolapse (HP:0001634)3.15828296
20Peritonitis (HP:0002586)3.02730178
21Hypoplasia of the iris (HP:0007676)3.00148182
22Dilatation of the ascending aorta (HP:0005111)2.98591908
23Wrist flexion contracture (HP:0001239)2.97693440
24Right ventricular cardiomyopathy (HP:0011663)2.95724753
25Follicular hyperkeratosis (HP:0007502)2.87405949
26Abnormality of skeletal muscle fiber size (HP:0012084)2.85957512
27Lymphangioma (HP:0100764)2.85114962
28Hyporeflexia of lower limbs (HP:0002600)2.84814529
29Mildly elevated creatine phosphokinase (HP:0008180)2.84331575
30Cervical subluxation (HP:0003308)2.80950766
31Abnormality of dentin (HP:0010299)2.71088589
32Sudden death (HP:0001699)2.69156378
33Blue sclerae (HP:0000592)2.63445588
34Ventricular tachycardia (HP:0004756)2.55512295
35Wormian bones (HP:0002645)2.52879604
36Difficulty climbing stairs (HP:0003551)2.52030838
37Genu recurvatum (HP:0002816)2.50425362
38Difficulty running (HP:0009046)2.44244833
39Lipoatrophy (HP:0100578)2.38899041
40Disproportionate tall stature (HP:0001519)2.37504371
41Bowel diverticulosis (HP:0005222)2.34542832
42Supraventricular arrhythmia (HP:0005115)2.33852237
43Spondylolisthesis (HP:0003302)2.33195435
44Overgrowth (HP:0001548)2.31474901
45Aortic regurgitation (HP:0001659)2.30828132
46Tetraparesis (HP:0002273)2.30326247
47Biconcave vertebral bodies (HP:0004586)2.29098389
48Short 4th metacarpal (HP:0010044)2.28901119
49Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.28901119
50Asymmetry of the thorax (HP:0001555)2.23757819
51Slender build (HP:0001533)2.22764754
52Thin bony cortex (HP:0002753)2.21636045
53Hyperextensible skin (HP:0000974)2.21363049
54Hematochezia (HP:0002573)2.19999886
55Vascular tortuosity (HP:0004948)2.18532673
56Neonatal short-limb short stature (HP:0008921)2.17175123
57Joint laxity (HP:0001388)2.17003416
58Hemorrhage of the eye (HP:0011885)2.16559088
59Venous abnormality (HP:0002624)2.15811167
60Scapular winging (HP:0003691)2.14322026
61Nonimmune hydrops fetalis (HP:0001790)2.11183077
62Ectopia lentis (HP:0001083)2.09847173
63Atrial fibrillation (HP:0005110)2.09765541
64Venous insufficiency (HP:0005293)2.09620967
65Buphthalmos (HP:0000557)2.08477152
66Wide anterior fontanel (HP:0000260)2.03730371
67Camptodactyly of toe (HP:0001836)2.03726988
68Round ear (HP:0100830)2.03430115
69Abnormality of the 4th metacarpal (HP:0010012)2.02487593
70Vertebral arch anomaly (HP:0008438)1.99729478
71Vitreoretinal degeneration (HP:0000655)1.99003790
72Limited hip movement (HP:0008800)1.98529305
73Polycythemia (HP:0001901)1.98153975
74Infantile muscular hypotonia (HP:0008947)1.98146626
75Rectal prolapse (HP:0002035)1.98105710
76Mitral stenosis (HP:0001718)1.97029778
77Hip contracture (HP:0003273)1.95034351
78Pulmonary artery stenosis (HP:0004415)1.94208280
79Distal upper limb amyotrophy (HP:0007149)1.93171563
80Upper limb amyotrophy (HP:0009129)1.93171563
81Primary atrial arrhythmia (HP:0001692)1.92814366
82Breech presentation (HP:0001623)1.92369675
83Elbow flexion contracture (HP:0002987)1.92138865
84Short nail (HP:0001799)1.90972888
85Bronchomalacia (HP:0002780)1.90041013
86Striae distensae (HP:0001065)1.89956335
87Abnormality of the calf musculature (HP:0001430)1.88818914
88Arterial tortuosity (HP:0005116)1.88748434
89Aortic valve stenosis (HP:0001650)1.88043685
90Abnormality of the acetabulum (HP:0003170)1.87515527
91Osteoarthritis (HP:0002758)1.86678357
92Deviation of the hallux (HP:0010051)1.86283298
93Thin ribs (HP:0000883)1.86009406
94Mitral regurgitation (HP:0001653)1.85915185
95Hypoventilation (HP:0002791)1.85228791
96Abnormal delivery (HP:0001787)1.82872063
97Inguinal hernia (HP:0000023)1.82801855
98Abnormality of the peritoneum (HP:0002585)1.82309706
99Ulnar bowing (HP:0003031)1.82096773
100Mild short stature (HP:0003502)1.81957979
101Mesangial abnormality (HP:0001966)1.80763423
102Bowing of the arm (HP:0006488)1.80055576
103Bowed forearm bones (HP:0003956)1.80055576
104Short hallux (HP:0010109)1.79772932
105Supraventricular tachycardia (HP:0004755)1.79736737
106Broad ribs (HP:0000885)1.79494882
107Osteolytic defects of the phalanges of the hand (HP:0009771)1.78034130
108Osteolytic defects of the hand bones (HP:0009699)1.78034130
109Protruding ear (HP:0000411)1.77645903
110Hallux valgus (HP:0001822)1.77508918
111Vertebral compression fractures (HP:0002953)1.77168671
112Radial bowing (HP:0002986)1.77006244
113Coxa vara (HP:0002812)1.76712630
114Broad face (HP:0000283)1.75761077
115Enlarged penis (HP:0000040)1.75482150
116Abnormality of the calcaneus (HP:0008364)1.73739900
117Abnormality of the left ventricular outflow tract (HP:0011103)1.73086075
118Subaortic stenosis (HP:0001682)1.73086075
119Knee flexion contracture (HP:0006380)1.73040130
120Joint stiffness (HP:0001387)1.72130239
121Skull defect (HP:0001362)1.71338188
122Joint contractures involving the joints of the feet (HP:0100492)1.70565673
123Flexion contracture of toe (HP:0005830)1.70565673
124Distal lower limb amyotrophy (HP:0008944)1.70523590
125EMG: myopathic abnormalities (HP:0003458)1.69522458
126Generalized amyotrophy (HP:0003700)1.68680635
127Absent frontal sinuses (HP:0002688)1.68327680
128Hyperacusis (HP:0010780)1.68243718
129Arachnodactyly (HP:0001166)1.68143737
130Thin skin (HP:0000963)1.66907019
131Retinal detachment (HP:0000541)1.65441651
132Lumbar hyperlordosis (HP:0002938)1.65107568
133Renal duplication (HP:0000075)1.64777008
134Congenital hip dislocation (HP:0001374)1.63210252
135Long toe (HP:0010511)1.61966843

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TIE15.73201686
2TRIB34.36193445
3TTN3.78434425
4PKN23.15302619
5PDGFRA3.14414889
6KDR2.99700691
7RIPK12.95887077
8EPHB22.53128705
9TGFBR22.46415107
10DDR22.23500975
11LATS12.17737754
12MYLK2.04990152
13ERN11.97758744
14DMPK1.93897908
15PTK61.86372021
16SIK11.81034888
17LATS21.79551121
18PTK2B1.78465141
19FER1.78429749
20TGFBR11.63080969
21PTK21.58527359
22PAK41.53813768
23PAK21.50489970
24LMTK21.39380343
25EPHA21.35872173
26LRRK21.24273069
27EPHB11.23268435
28PAK31.22287592
29PDGFRB1.18748161
30BMX1.18412228
31MAP3K101.15104488
32CAMK1D1.11487160
33ILK1.06694777
34MET1.04222973
35MTOR1.03634103
36PRKD31.03228960
37PRKD10.98119947
38PIK3CG0.97339417
39ROCK10.96226743
40CAMK1G0.95662255
41PRKG20.94561886
42FGFR10.93767990
43FGFR40.93739656
44ARAF0.90736545
45ERBB40.89586498
46TRPM70.89240469
47MAP3K30.88554376
48FGFR20.88547027
49SMG10.86847211
50PIK3CA0.84609098
51MAP3K60.84566864
52EEF2K0.80701378
53STK30.77754096
54PDK30.76419293
55PDK40.76419293
56MAP2K10.76323606
57RET0.74788925
58ICK0.74530730
59MAP2K30.73908208
60PRKCH0.71312001
61MAPKAPK30.66574443
62TYRO30.66482611
63DAPK30.66150531
64STK38L0.66146907
65PDK20.66118674
66CDC42BPA0.65185118
67MAPK70.62539512
68MAP3K130.61171864
69ROCK20.59506301
70PRPF4B0.58159808
71EPHA30.57295141
72ABL20.54627993
73PHKG20.54121343
74PHKG10.54121343
75FGFR30.53024237
76PRKD20.52470896
77KSR20.50013229
78CLK10.49488820
79OBSCN0.48517385
80NEK90.48417278
81FLT30.46935035
82PRKAA20.46890977
83INSR0.46778495
84GSK3A0.46311767
85STK100.45901795
86SRC0.44995543
87MAP3K70.43317304
88MAP2K20.43249161
89CDK120.42273157
90NTRK10.41611233
91RPS6KL10.41529658
92RPS6KC10.41529658
93AKT30.39973686
94SCYL20.39868169
95TESK10.39227457
96CDK60.38978611
97NEK10.38620593
98PAK60.38013099
99PIM20.35328626
100KSR10.34354470
101WNK40.34342972
102MAPK40.33589621
103STK380.32873410
104RPS6KA40.32565812
105IGF1R0.32072262
106MOS0.31699411
107FES0.31058726
108AKT20.29081428
109MARK20.27954749
110MAP3K80.27735699
111RPS6KB20.27103459
112CDK90.26950527
113CSK0.26767697
114KIT0.26649998
115MAPK120.26393769
116JAK10.25893986
117STK240.25873468
118ADRBK10.25794998
119RPS6KA20.25554923
120MST1R0.25492264
121MARK10.25387142
122EGFR0.25347452
123LIMK10.25059184
124CAMK2G0.24538305
125PDPK10.24487564
126ZAP700.24277793
127DYRK1B0.24157128
128RPS6KA60.23543383

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045124.42525318
2* Focal adhesion_Homo sapiens_hsa045103.22030560
3Dilated cardiomyopathy_Homo sapiens_hsa054142.78053048
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.66905098
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.54907051
6* Small cell lung cancer_Homo sapiens_hsa052222.35319083
7* Amoebiasis_Homo sapiens_hsa051462.34869417
8* Protein digestion and absorption_Homo sapiens_hsa049742.28308350
9Adherens junction_Homo sapiens_hsa045202.22740344
10Proteoglycans in cancer_Homo sapiens_hsa052052.06865791
11* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.04811861
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.92931905
13Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.79765089
14Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.79480805
15Glycosaminoglycan degradation_Homo sapiens_hsa005311.67810731
16Viral myocarditis_Homo sapiens_hsa054161.59844051
17Hippo signaling pathway_Homo sapiens_hsa043901.59711249
18Leukocyte transendothelial migration_Homo sapiens_hsa046701.57083284
19Tight junction_Homo sapiens_hsa045301.54030719
20* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.52604808
21Bladder cancer_Homo sapiens_hsa052191.49863672
22Basal cell carcinoma_Homo sapiens_hsa052171.43603060
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.35934755
24TGF-beta signaling pathway_Homo sapiens_hsa043501.35331243
25MicroRNAs in cancer_Homo sapiens_hsa052061.31382514
26Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.30017402
27Regulation of actin cytoskeleton_Homo sapiens_hsa048101.26103253
28Notch signaling pathway_Homo sapiens_hsa043301.24702353
29Rap1 signaling pathway_Homo sapiens_hsa040151.20372324
30Toxoplasmosis_Homo sapiens_hsa051451.18460584
31Chronic myeloid leukemia_Homo sapiens_hsa052201.15683295
32* Pathways in cancer_Homo sapiens_hsa052001.14326674
33PPAR signaling pathway_Homo sapiens_hsa033201.14095426
34Platelet activation_Homo sapiens_hsa046111.13983701
35Hedgehog signaling pathway_Homo sapiens_hsa043401.13484632
36Insulin resistance_Homo sapiens_hsa049311.13347639
37Adipocytokine signaling pathway_Homo sapiens_hsa049201.04799943
38Malaria_Homo sapiens_hsa051441.02508054
39Axon guidance_Homo sapiens_hsa043601.02331081
40Dorso-ventral axis formation_Homo sapiens_hsa043201.02254217
41Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.97787924
42Central carbon metabolism in cancer_Homo sapiens_hsa052300.97591840
43Melanoma_Homo sapiens_hsa052180.93679620
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93545791
45AMPK signaling pathway_Homo sapiens_hsa041520.91617998
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.90735107
47HIF-1 signaling pathway_Homo sapiens_hsa040660.90710618
48Lysine degradation_Homo sapiens_hsa003100.89787063
49Fatty acid degradation_Homo sapiens_hsa000710.89209211
50Renal cell carcinoma_Homo sapiens_hsa052110.87925428
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.87775846
52VEGF signaling pathway_Homo sapiens_hsa043700.87193878
53Fatty acid metabolism_Homo sapiens_hsa012120.86720206
54Glioma_Homo sapiens_hsa052140.84779825
55Estrogen signaling pathway_Homo sapiens_hsa049150.84663012
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.84599203
57Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.84557324
58Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.83726596
59Longevity regulating pathway - mammal_Homo sapiens_hsa042110.82459631
60Melanogenesis_Homo sapiens_hsa049160.76249515
61Prostate cancer_Homo sapiens_hsa052150.75840885
62Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.75687677
63Other glycan degradation_Homo sapiens_hsa005110.74775859
64Fatty acid biosynthesis_Homo sapiens_hsa000610.74663575
65Pancreatic cancer_Homo sapiens_hsa052120.73954303
66Gap junction_Homo sapiens_hsa045400.72363339
67Insulin signaling pathway_Homo sapiens_hsa049100.72241494
68Ovarian steroidogenesis_Homo sapiens_hsa049130.69480037
69Endometrial cancer_Homo sapiens_hsa052130.69172963
70HTLV-I infection_Homo sapiens_hsa051660.67976515
71Propanoate metabolism_Homo sapiens_hsa006400.67898498
72Galactose metabolism_Homo sapiens_hsa000520.65276835
73Complement and coagulation cascades_Homo sapiens_hsa046100.65091383
74Renin secretion_Homo sapiens_hsa049240.64807753
75Wnt signaling pathway_Homo sapiens_hsa043100.64212882
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.60855271
77Glucagon signaling pathway_Homo sapiens_hsa049220.59407770
78mTOR signaling pathway_Homo sapiens_hsa041500.58909263
79Vibrio cholerae infection_Homo sapiens_hsa051100.57707363
80ErbB signaling pathway_Homo sapiens_hsa040120.57590753
81Thyroid cancer_Homo sapiens_hsa052160.57421099
82Endocytosis_Homo sapiens_hsa041440.56931831
83Ras signaling pathway_Homo sapiens_hsa040140.56422845
84Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.56063063
85Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.55891778
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55342528
87Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55116341
88Cardiac muscle contraction_Homo sapiens_hsa042600.54033937
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.53506563
90Thyroid hormone synthesis_Homo sapiens_hsa049180.53041436
91TNF signaling pathway_Homo sapiens_hsa046680.52787287
92Colorectal cancer_Homo sapiens_hsa052100.52304989
93Salmonella infection_Homo sapiens_hsa051320.51187393
94Carbon metabolism_Homo sapiens_hsa012000.49674511
95Prion diseases_Homo sapiens_hsa050200.48533735
96Shigellosis_Homo sapiens_hsa051310.48205603
97Choline metabolism in cancer_Homo sapiens_hsa052310.46999535
98Oxytocin signaling pathway_Homo sapiens_hsa049210.46880642
99Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46733989
100Neurotrophin signaling pathway_Homo sapiens_hsa047220.45857403
101Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45609305
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.45517735
103GnRH signaling pathway_Homo sapiens_hsa049120.45116339
104Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.44854334
105N-Glycan biosynthesis_Homo sapiens_hsa005100.44197687
106FoxO signaling pathway_Homo sapiens_hsa040680.43497644
107Prolactin signaling pathway_Homo sapiens_hsa049170.43386080
108p53 signaling pathway_Homo sapiens_hsa041150.43055108
109cAMP signaling pathway_Homo sapiens_hsa040240.42791490
110Bile secretion_Homo sapiens_hsa049760.42719959
111MAPK signaling pathway_Homo sapiens_hsa040100.42172609
112Pentose phosphate pathway_Homo sapiens_hsa000300.40015718
113Renin-angiotensin system_Homo sapiens_hsa046140.39964273
114Sphingolipid signaling pathway_Homo sapiens_hsa040710.37604460
115Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.36612525
116Cocaine addiction_Homo sapiens_hsa050300.35383496
117Non-small cell lung cancer_Homo sapiens_hsa052230.34689244

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