MMP2

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





Description: This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.29674685
2collagen fibril organization (GO:0030199)7.04706582
3chondrocyte proliferation (GO:0035988)5.67269766
4skin morphogenesis (GO:0043589)5.20143803
5* collagen metabolic process (GO:0032963)5.07157358
6* collagen catabolic process (GO:0030574)5.00978790
7sequestering of extracellular ligand from receptor (GO:0035581)4.94436978
8neuron projection extension involved in neuron projection guidance (GO:1902284)4.93702571
9axon extension involved in axon guidance (GO:0048846)4.93702571
10virion attachment to host cell (GO:0019062)4.90911291
11adhesion of symbiont to host cell (GO:0044650)4.90911291
12* multicellular organismal macromolecule metabolic process (GO:0044259)4.76094112
13* bone trabecula formation (GO:0060346)4.71359981
14* multicellular organismal catabolic process (GO:0044243)4.60465038
15regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.57759644
16keratan sulfate catabolic process (GO:0042340)4.56447206
17dermatan sulfate biosynthetic process (GO:0030208)4.55082879
18* endodermal cell differentiation (GO:0035987)4.51987346
19extracellular fibril organization (GO:0043206)4.50590245
20* multicellular organismal metabolic process (GO:0044236)4.49452417
21peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)4.44834245
22type B pancreatic cell proliferation (GO:0044342)4.33981109
23basement membrane organization (GO:0071711)4.28435829
24* extracellular matrix disassembly (GO:0022617)4.20630701
25adhesion of symbiont to host (GO:0044406)4.17684636
26dermatan sulfate metabolic process (GO:0030205)4.14657035
27metanephric mesenchyme development (GO:0072075)4.06520517
28fibril organization (GO:0097435)3.99810259
29outer ear morphogenesis (GO:0042473)3.98838452
30cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.91980995
31negative regulation of chondrocyte differentiation (GO:0032331)3.88986265
32planar cell polarity pathway involved in neural tube closure (GO:0090179)3.87150614
33extracellular matrix assembly (GO:0085029)3.86624794
34kidney mesenchyme development (GO:0072074)3.84660811
35glomerular basement membrane development (GO:0032836)3.81859960
36mesenchymal-epithelial cell signaling (GO:0060638)3.81628566
37negative regulation of smooth muscle cell migration (GO:0014912)3.74986713
38cellular response to vitamin (GO:0071295)3.73338671
39craniofacial suture morphogenesis (GO:0097094)3.71282635
40tooth mineralization (GO:0034505)3.68397031
41protein retention in ER lumen (GO:0006621)3.67901237
42regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.64768780
43plasma membrane repair (GO:0001778)3.64009451
44positive regulation of blood vessel endothelial cell migration (GO:0043536)3.63069525
45maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.55238332
46retina vasculature morphogenesis in camera-type eye (GO:0061299)3.44228322
47embryonic cranial skeleton morphogenesis (GO:0048701)3.42270583
48apoptotic cell clearance (GO:0043277)3.41772172
49barbed-end actin filament capping (GO:0051016)3.41570250
50regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.41324990
51negative regulation of fatty acid transport (GO:2000192)3.38174054
52regulation of extracellular matrix disassembly (GO:0010715)3.37976746
53vascular endothelial growth factor signaling pathway (GO:0038084)3.33741732
54cell adhesion mediated by integrin (GO:0033627)3.32531046
55Golgi transport vesicle coating (GO:0048200)3.31754018
56COPI coating of Golgi vesicle (GO:0048205)3.31754018
57* extracellular matrix organization (GO:0030198)3.27955249
58cell migration involved in heart development (GO:0060973)3.27324930
59* extracellular structure organization (GO:0043062)3.26642304
60cell migration involved in sprouting angiogenesis (GO:0002042)3.26248387
61positive regulation of endothelial cell apoptotic process (GO:2000353)3.26097415
62vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.24756190
63negative regulation of cartilage development (GO:0061037)3.23734776
64stress fiber assembly (GO:0043149)3.22340188
65negative regulation of catenin import into nucleus (GO:0035414)3.21225516
66peptidyl-proline hydroxylation (GO:0019511)3.20261584
67venous blood vessel morphogenesis (GO:0048845)3.18169173
68hippo signaling (GO:0035329)3.17536574
69wound healing, spreading of epidermal cells (GO:0035313)3.15409994
70cell proliferation involved in metanephros development (GO:0072203)3.15241488
71chondrocyte development (GO:0002063)3.14776498
72middle ear morphogenesis (GO:0042474)3.13460303
73G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.12919128
74positive regulation of epithelial to mesenchymal transition (GO:0010718)3.11723428
75cell-substrate junction assembly (GO:0007044)3.09783389
76hyaluronan catabolic process (GO:0030214)3.09557185
77positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.08749468
78heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.08550395
79epithelial cell-cell adhesion (GO:0090136)3.06517867
80paraxial mesoderm development (GO:0048339)3.05882861
81polarized epithelial cell differentiation (GO:0030859)3.04618147
82endothelial cell morphogenesis (GO:0001886)3.03844802
83cell proliferation involved in kidney development (GO:0072111)3.02468288
84insulin-like growth factor receptor signaling pathway (GO:0048009)3.00567142
85glomerular filtration (GO:0003094)3.00364507
86negative regulation of BMP signaling pathway (GO:0030514)2.97408226
87smooth muscle tissue development (GO:0048745)2.92113747
88regulation of SMAD protein import into nucleus (GO:0060390)2.90370787
89cellular response to vitamin D (GO:0071305)2.89418533
90negative regulation of embryonic development (GO:0045992)2.88153002
91regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.87671392
92embryonic skeletal joint morphogenesis (GO:0060272)2.87631063
93endothelial cell proliferation (GO:0001935)2.87390251
94positive regulation of mesenchymal cell proliferation (GO:0002053)2.87332896
95negative regulation of osteoblast proliferation (GO:0033689)2.86073709
96glial cell migration (GO:0008347)2.85864025
97protein trimerization (GO:0070206)2.85467855
98endocardial cushion development (GO:0003197)2.84556913
99positive regulation of fibroblast migration (GO:0010763)2.83510428
100* cellular response to amino acid stimulus (GO:0071230)2.82683473
101sprouting angiogenesis (GO:0002040)2.82188077
102protein hydroxylation (GO:0018126)2.81516949
103renal filtration (GO:0097205)2.81225110
104chondroitin sulfate biosynthetic process (GO:0030206)2.80525263
105negative regulation of leukocyte chemotaxis (GO:0002689)2.80092449
106regulation of integrin-mediated signaling pathway (GO:2001044)2.79736641
107regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.78708912
108cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.75450122
109chondroitin sulfate catabolic process (GO:0030207)2.73755495
110wound healing, spreading of cells (GO:0044319)2.73305937
111cranial suture morphogenesis (GO:0060363)2.72397526
112Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.71780423
113positive regulation of osteoblast proliferation (GO:0033690)2.71769085
114regulation of plasminogen activation (GO:0010755)2.71092697
115endochondral ossification (GO:0001958)2.70674381
116replacement ossification (GO:0036075)2.70674381
117extracellular negative regulation of signal transduction (GO:1900116)2.70610001
118extracellular regulation of signal transduction (GO:1900115)2.70610001
119regulation of collagen metabolic process (GO:0010712)2.69523922
120regulation of cartilage development (GO:0061035)2.69462314
121regulation of chondrocyte differentiation (GO:0032330)2.68624696
122substrate-dependent cell migration (GO:0006929)2.67749276
123substrate adhesion-dependent cell spreading (GO:0034446)2.65290907
124organ induction (GO:0001759)2.65154964
125regulation of mesenchymal cell proliferation (GO:0010464)2.64873489
126protein localization to endosome (GO:0036010)2.64786675
127* blood vessel maturation (GO:0001955)2.64446912
128hemidesmosome assembly (GO:0031581)2.63891217
129regulation of establishment of planar polarity (GO:0090175)2.63172793
130* trabecula formation (GO:0060343)2.62848681
131positive regulation of axon extension (GO:0045773)2.62163718
132positive regulation of extracellular matrix organization (GO:1903055)2.62036745
133positive regulation of cartilage development (GO:0061036)2.61955388
134positive regulation of glycogen biosynthetic process (GO:0045725)2.60778873
135cellular response to interferon-alpha (GO:0035457)2.60493417
136wound healing (GO:0042060)2.60285723
137anatomical structure regression (GO:0060033)2.60160881

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.47687028
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.70622684
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse4.42534662
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.14256624
5CLOCK_20551151_ChIP-Seq_293T_Human3.20781139
6* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.09555885
7* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.95125731
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.76631199
9NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.70886828
10* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.67732998
11* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.55434855
12WT1_19549856_ChIP-ChIP_CCG9911_Human2.43603795
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.34604998
14* CJUN_26792858_Chip-Seq_BT549_Human2.32826250
15EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.28147631
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.27256255
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.19334822
18HIF1A_21447827_ChIP-Seq_MCF-7_Human2.19270781
19EP300_21415370_ChIP-Seq_HL-1_Mouse2.15245309
20* BRD4_25478319_ChIP-Seq_HGPS_Human2.10129717
21EGR1_19374776_ChIP-ChIP_THP-1_Human2.06600217
22ELK3_25401928_ChIP-Seq_HUVEC_Human1.94990286
23ESR1_21235772_ChIP-Seq_MCF-7_Human1.94543021
24EED_16625203_ChIP-ChIP_MESCs_Mouse1.75667067
25* TP53_20018659_ChIP-ChIP_R1E_Mouse1.69097113
26NRF2_20460467_ChIP-Seq_MEFs_Mouse1.66929173
27NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.66929173
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.62031226
29NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.61863237
30ZFP281_18757296_ChIP-ChIP_E14_Mouse1.61704242
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.58207549
32P300_27058665_Chip-Seq_ZR-75-30cells_Human1.55074022
33SMC1_22415368_ChIP-Seq_MEFs_Mouse1.49907498
34RNF2_18974828_ChIP-Seq_MESCs_Mouse1.49880191
35EZH2_18974828_ChIP-Seq_MESCs_Mouse1.49880191
36STAT6_21828071_ChIP-Seq_BEAS2B_Human1.48560242
37PPAR_26484153_Chip-Seq_NCI-H1993_Human1.48239716
38UBF1/2_26484160_Chip-Seq_HMECs_Human1.46313367
39PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.39134887
40ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.36986338
41KDM2B_26808549_Chip-Seq_SUP-B15_Human1.36663053
42SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.35809906
43TP53_22127205_ChIP-Seq_IMR90_Human1.34104742
44ISL1_27105846_Chip-Seq_CPCs_Mouse1.33753501
45SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.33292886
46SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.33292886
47KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.32937691
48KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.32937691
49KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.32937691
50ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.32615147
51HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.32122299
52TBX20_22328084_ChIP-Seq_HEART_Mouse1.31626167
53TBX20_22080862_ChIP-Seq_HEART_Mouse1.31626167
54SOX9_24532713_ChIP-Seq_HFSC_Mouse1.31449326
55CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30349541
56NFIB_24661679_ChIP-Seq_LUNG_Mouse1.29423424
57* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.27705557
58* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.27631993
59DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.26634835
60TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26294826
61PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25785364
62TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.25738320
63ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.25407358
64* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.22747722
65ATF3_27146783_Chip-Seq_COLON_Human1.22739599
66KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.22579455
67* TP53_23651856_ChIP-Seq_MEFs_Mouse1.21215816
68MTF2_20144788_ChIP-Seq_MESCs_Mouse1.20913359
69RACK7_27058665_Chip-Seq_MCF-7_Human1.19347643
70SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.18963633
71SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.18554697
72SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.18451073
73ZFP281_27345836_Chip-Seq_ESCs_Mouse1.17964737
74TP53_16413492_ChIP-PET_HCT116_Human1.16582323
75* TP53_18474530_ChIP-ChIP_U2OS_Human1.16464687
76SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.15799459
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15358383
78MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.14929779
79JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14292552
80STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.13723143
81KDM2B_26808549_Chip-Seq_K562_Human1.13599563
82CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.13021213
83SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.12777922
84FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.12663088
85SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.11723345
86FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.11165343
87SALL4_18804426_ChIP-ChIP_XEN_Mouse1.10968961
88FOXO3_23340844_ChIP-Seq_DLD1_Human1.09824347
89ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09423241
90POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.08571380
91SOX2_20726797_ChIP-Seq_SW620_Human1.07387061
92RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.06628442
93RBPJ_22232070_ChIP-Seq_NCS_Mouse1.06381881
94NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.06299121
95SA1_22415368_ChIP-Seq_MEFs_Mouse1.06147742
96KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05977864
97TCF3_18692474_ChIP-Seq_MEFs_Mouse1.04748434
98NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.04566816
99TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04470439
100ESR1_20079471_ChIP-ChIP_T-47D_Human1.02059092
101SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01875506
102GATA2_21666600_ChIP-Seq_HMVEC_Human1.01225080
103P63_26484246_Chip-Seq_KERATINOCYTES_Human1.00986905
104BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.00387527
105SMAD_19615063_ChIP-ChIP_OVARY_Human0.98212285
106MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.96646727
107RNF2_27304074_Chip-Seq_ESCs_Mouse0.96289796
108SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.96269794
109* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.96233978
110* LXR_22292898_ChIP-Seq_THP-1_Human0.94984701
111SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.92555587
112* TET1_21490601_ChIP-Seq_MESCs_Mouse0.90300798
113Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.89912532
114TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88891167

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.96503276
2MP0005503_abnormal_tendon_morphology6.31506167
3MP0005275_abnormal_skin_tensile5.89635406
4MP0003705_abnormal_hypodermis_morpholog3.87092589
5MP0003279_aneurysm3.22683114
6MP0001958_emphysema3.03792744
7MP0004272_abnormal_basement_membrane2.96220044
8MP0006054_spinal_hemorrhage2.59822722
9MP0005257_abnormal_intraocular_pressure2.51866988
10MP0005508_abnormal_skeleton_morphology2.47034729
11MP0005623_abnormal_meninges_morphology2.33963374
12MP0002060_abnormal_skin_morphology2.21012125
13MP0002108_abnormal_muscle_morphology2.12722636
14MP0009384_cardiac_valve_regurgitation1.86188759
15MP0010030_abnormal_orbit_morphology1.78460409
16MP0005023_abnormal_wound_healing1.76413896
17MP0009250_abnormal_appendicular_skeleto1.72492594
18MP0003385_abnormal_body_wall1.71288071
19MP0000751_myopathy1.62094771
20MP0003566_abnormal_cell_adhesion1.59021005
21MP0002295_abnormal_pulmonary_circulatio1.52899329
22MP0004858_abnormal_nervous_system1.51293967
23MP0000733_abnormal_muscle_development1.50182707
24MP0001542_abnormal_bone_strength1.49273702
25MP0001243_abnormal_dermal_layer1.48358047
26MP0002896_abnormal_bone_mineralization1.45360431
27MP0003283_abnormal_digestive_organ1.42339091
28MP0003950_abnormal_plasma_membrane1.41531067
29MP0010368_abnormal_lymphatic_system1.36209948
30MP0000428_abnormal_craniofacial_morphol1.33946117
31MP0000534_abnormal_ureter_morphology1.33238364
32MP0005390_skeleton_phenotype1.32298830
33MP0002282_abnormal_trachea_morphology1.31090147
34MP0010352_gastrointestinal_tract_polyps1.28805471
35MP0002932_abnormal_joint_morphology1.27998957
36MP0000767_abnormal_smooth_muscle1.26769640
37MP0002249_abnormal_larynx_morphology1.25170325
38MP0002933_joint_inflammation1.23486178
39MP0003942_abnormal_urinary_system1.22632549
40MP0000163_abnormal_cartilage_morphology1.22518988
41MP0003091_abnormal_cell_migration1.22263997
42MP0002115_abnormal_skeleton_extremities1.20237963
43MP0000049_abnormal_middle_ear1.19317332
44MP0004134_abnormal_chest_morphology1.18372403
45MP0009053_abnormal_anal_canal1.16798941
46MP0001299_abnormal_eye_distance/1.12201217
47* MP0005595_abnormal_vascular_smooth1.08232005
48MP0003045_fibrosis1.07648959
49MP0005076_abnormal_cell_differentiation1.03958543
50MP0009780_abnormal_chondrocyte_physiolo1.03415388
51MP0010386_abnormal_urinary_bladder1.03384000
52* MP0003115_abnormal_respiratory_system1.03113529
53MP0003941_abnormal_skin_development1.00990395
54MP0003122_maternal_imprinting1.00258643
55MP0003755_abnormal_palate_morphology0.98600786
56MP0005058_abnormal_lysosome_morphology0.98042635
57MP0002113_abnormal_skeleton_development0.97891211
58MP0000750_abnormal_muscle_regeneration0.97760271
59MP0002089_abnormal_postnatal_growth/wei0.96956271
60MP0002877_abnormal_melanocyte_morpholog0.96324280
61MP0002998_abnormal_bone_remodeling0.95806023
62MP0009840_abnormal_foam_cell0.95772309
63MP0003935_abnormal_craniofacial_develop0.90731275
64MP0000013_abnormal_adipose_tissue0.89838638
65MP0003300_gastrointestinal_ulcer0.89632221
66MP0002109_abnormal_limb_morphology0.88488972
67MP0000432_abnormal_head_morphology0.88105762
68MP0002233_abnormal_nose_morphology0.87864757
69MP0002168_other_aberrant_phenotype0.87478251
70MP0002116_abnormal_craniofacial_bone0.87195728
71MP0000762_abnormal_tongue_morphology0.84449223
72MP0005367_renal/urinary_system_phenotyp0.80515633
73MP0000516_abnormal_urinary_system0.80515633
74MP0001849_ear_inflammation0.80410284
75MP0005369_muscle_phenotype0.80393761
76MP0002111_abnormal_tail_morphology0.80000221
77* MP0003448_altered_tumor_morphology0.79963549
78MP0002128_abnormal_blood_circulation0.79639238
79MP0001879_abnormal_lymphatic_vessel0.79537186
80MP0000759_abnormal_skeletal_muscle0.79412983
81MP0000003_abnormal_adipose_tissue0.78175825
82MP0003795_abnormal_bone_structure0.75863595
83MP0002254_reproductive_system_inflammat0.75711174
84MP0002114_abnormal_axial_skeleton0.72875811
85MP0005171_absent_coat_pigmentation0.71895983
86MP0004087_abnormal_muscle_fiber0.71143070
87MP0000681_abnormal_thyroid_gland0.71130246
88MP0000462_abnormal_digestive_system0.70938257
89MP0000749_muscle_degeneration0.70874335
90* MP0001614_abnormal_blood_vessel0.70471644
91MP0003937_abnormal_limbs/digits/tail_de0.70379641
92MP0000537_abnormal_urethra_morphology0.68275680
93MP0001533_abnormal_skeleton_physiology0.68114231
94* MP0001175_abnormal_lung_morphology0.67872082
95MP0004084_abnormal_cardiac_muscle0.67623493
96* MP0002925_abnormal_cardiovascular_devel0.66977483
97MP0005165_increased_susceptibility_to0.66196028
98MP0010771_integument_phenotype0.63923011
99MP0001348_abnormal_lacrimal_gland0.62920011
100MP0004233_abnormal_muscle_weight0.62538092
101MP0002697_abnormal_eye_size0.62085771
102MP0004185_abnormal_adipocyte_glucose0.61829525
103MP0002837_dystrophic_cardiac_calcinosis0.61129730
104MP0004197_abnormal_fetal_growth/weight/0.60770860
105MP0000467_abnormal_esophagus_morphology0.59806923
106* MP0005197_abnormal_uvea_morphology0.58368948
107MP0005193_abnormal_anterior_eye0.58326825
108MP0001915_intracranial_hemorrhage0.57342330
109MP0005388_respiratory_system_phenotype0.57181489
110MP0002133_abnormal_respiratory_system0.57181489
111MP0002938_white_spotting0.57105275
112MP0003828_pulmonary_edema0.56755064
113MP0009278_abnormal_bone_marrow0.54413425
114MP0003567_abnormal_fetal_cardiomyocyte0.53491369
115MP0005164_abnormal_response_to0.53488250
116MP0000538_abnormal_urinary_bladder0.53294599
117MP0004510_myositis0.53155652
118MP0006138_congestive_heart_failure0.53035693
119MP0005409_darkened_coat_color0.51196081
120MP0001270_distended_abdomen0.50027669

Predicted human phenotypes

RankGene SetZ-score
1* Protrusio acetabuli (HP:0003179)8.61896229
2Premature rupture of membranes (HP:0001788)7.80982804
3* Ankle contracture (HP:0006466)5.12558363
4Aortic dissection (HP:0002647)5.08149226
5Shallow orbits (HP:0000586)5.02712418
6Soft skin (HP:0000977)4.93040431
7Follicular hyperkeratosis (HP:0007502)4.55757615
8Type 1 muscle fiber predominance (HP:0003803)4.44726302
9Atrophic scars (HP:0001075)4.44322933
10Bladder diverticulum (HP:0000015)4.21110040
11Cerebral aneurysm (HP:0004944)4.17195151
12Peritonitis (HP:0002586)4.12429413
13* Broad metatarsal (HP:0001783)4.03708552
14Neonatal short-limb short stature (HP:0008921)3.94383933
15Fragile skin (HP:0001030)3.88386907
16Abnormality of dentin (HP:0010299)3.88297983
17Aortic aneurysm (HP:0004942)3.78991731
18Dilatation of the ascending aorta (HP:0005111)3.76988079
19Mitral valve prolapse (HP:0001634)3.75612823
20Genu recurvatum (HP:0002816)3.65424171
21Increased connective tissue (HP:0009025)3.55352363
22Slender build (HP:0001533)3.55022335
23Biconcave vertebral bodies (HP:0004586)3.51236963
24Spinal rigidity (HP:0003306)3.47411195
25Blue sclerae (HP:0000592)3.45581077
26Wormian bones (HP:0002645)3.32229874
27Hyperextensible skin (HP:0000974)3.04341718
28Increased variability in muscle fiber diameter (HP:0003557)3.03511565
29Mildly elevated creatine phosphokinase (HP:0008180)2.98976412
30Wide anterior fontanel (HP:0000260)2.72666517
31Bowel diverticulosis (HP:0005222)2.72004369
32Vascular tortuosity (HP:0004948)2.70542588
33Abnormal delivery (HP:0001787)2.70183175
34Abnormality of skeletal muscle fiber size (HP:0012084)2.67176931
35Joint laxity (HP:0001388)2.66929029
36Aortic valve stenosis (HP:0001650)2.59614599
37Joint stiffness (HP:0001387)2.58357042
38* Vertebral compression fractures (HP:0002953)2.57127060
39Round ear (HP:0100830)2.50807115
40* Cervical subluxation (HP:0003308)2.50206492
41Thin bony cortex (HP:0002753)2.48581604
42Breech presentation (HP:0001623)2.47590917
43Overgrowth (HP:0001548)2.47418917
44Elbow flexion contracture (HP:0002987)2.46031430
45Bell-shaped thorax (HP:0001591)2.43998241
46Aneurysm (HP:0002617)2.41609442
47Arterial tortuosity (HP:0005116)2.41521433
48Ulnar bowing (HP:0003031)2.38165167
49Osteoarthritis (HP:0002758)2.35904321
50Deviation of the hallux (HP:0010051)2.35897835
51* Abnormality of the acetabulum (HP:0003170)2.33881619
52Spondylolisthesis (HP:0003302)2.29109542
53Absent frontal sinuses (HP:0002688)2.28930252
54Broad ribs (HP:0000885)2.28378952
55Striae distensae (HP:0001065)2.26411657
56Short 4th metacarpal (HP:0010044)2.26266915
57Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.26266915
58Ectopia lentis (HP:0001083)2.25090791
59Mitral regurgitation (HP:0001653)2.24814907
60Osteolytic defects of the hand bones (HP:0009699)2.23230766
61Osteolytic defects of the phalanges of the hand (HP:0009771)2.23230766
62* Wrist flexion contracture (HP:0001239)2.22996067
63Natal tooth (HP:0000695)2.22118833
64Hallux valgus (HP:0001822)2.21851424
65Disproportionate tall stature (HP:0001519)2.20256980
66Infantile muscular hypotonia (HP:0008947)2.19471218
67Mild short stature (HP:0003502)2.16840237
68Mesomelia (HP:0003027)2.15786069
69Nonimmune hydrops fetalis (HP:0001790)2.14711111
70Broad long bones (HP:0005622)2.11364560
71Coronal craniosynostosis (HP:0004440)2.09625510
72Ovoid vertebral bodies (HP:0003300)2.09554278
73Generalized amyotrophy (HP:0003700)2.07405054
74Tibial bowing (HP:0002982)2.05891067
75Femoral bowing (HP:0002980)2.02064194
76Inguinal hernia (HP:0000023)2.01496215
77Spinal cord lesions (HP:0100561)1.99891606
78Syringomyelia (HP:0003396)1.99891606
79Short nail (HP:0001799)1.99755072
80Long toe (HP:0010511)1.98185194
81Alopecia of scalp (HP:0002293)1.96626329
82Persistence of primary teeth (HP:0006335)1.96369164
83Morphological abnormality of the middle ear (HP:0008609)1.96247448
84Aortic regurgitation (HP:0001659)1.93609743
85Flat cornea (HP:0007720)1.93571237
86Abnormality of the peritoneum (HP:0002585)1.92931969
87Buphthalmos (HP:0000557)1.91859546
88Protruding ear (HP:0000411)1.91499960
89* Camptodactyly of toe (HP:0001836)1.90897124
90Abnormality of the 4th metacarpal (HP:0010012)1.89460785
91Knee flexion contracture (HP:0006380)1.89386750
92* Delayed cranial suture closure (HP:0000270)1.88638453
93Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.88318332
94Venous abnormality (HP:0002624)1.86678887
95Venous insufficiency (HP:0005293)1.84928080
96Platyspondyly (HP:0000926)1.84743336
97Emphysema (HP:0002097)1.84691421
98Coxa vara (HP:0002812)1.83271865
99Asymmetry of the thorax (HP:0001555)1.83197153
100Distal upper limb amyotrophy (HP:0007149)1.82986282
101Upper limb amyotrophy (HP:0009129)1.82986282
102Achilles tendon contracture (HP:0001771)1.80507229
103Renal duplication (HP:0000075)1.79652761
104Flared iliac wings (HP:0002869)1.79236454
105Muscle fiber splitting (HP:0003555)1.77453914
106Thoracolumbar scoliosis (HP:0002944)1.77228961
107Decreased skull ossification (HP:0004331)1.76382206
108Hypoventilation (HP:0002791)1.74923491
109Cardiovascular calcification (HP:0011915)1.74069686
110Thin skin (HP:0000963)1.71890185
111Redundant skin (HP:0001582)1.70895444
112Bowed forearm bones (HP:0003956)1.70154603
113Bowing of the arm (HP:0006488)1.70154603
114Hypoplastic ischia (HP:0003175)1.69682330
115Mitral stenosis (HP:0001718)1.69280410
116Pulmonary artery stenosis (HP:0004415)1.68891328
117Limb-girdle muscle weakness (HP:0003325)1.68559285
118Congenital glaucoma (HP:0001087)1.68030350
119Hypoplasia of the iris (HP:0007676)1.67399881
120* Osteopenia (HP:0000938)1.67219637
121Ulnar deviation of the wrist (HP:0003049)1.66989808
122Turricephaly (HP:0000262)1.66887600
123Abnormality of skull ossification (HP:0002703)1.65714680
124Abnormality of the anterior chamber (HP:0000593)1.64888392

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.60012423
2PDGFRA4.20713325
3TRIB34.13605809
4TTN3.95393921
5LATS13.28576575
6ERN13.09593902
7LATS22.94457508
8PKN22.76200801
9SIK12.75548563
10TGFBR22.60163577
11RIPK12.44852940
12EPHB22.27657503
13EPHA31.98614850
14PAK21.68336157
15BMX1.63141232
16FER1.61286243
17AKT31.59672856
18PAK41.57598459
19PTK61.55527240
20DMPK1.46975294
21STK31.46267184
22PDGFRB1.41995537
23CDK121.41042287
24PTK21.39124666
25TRPM71.28962182
26EEF2K1.27314126
27FGFR11.24477301
28MET1.22479662
29STK38L1.19409213
30MAP3K101.16673322
31MAP3K61.15548806
32MTOR1.09987715
33NTRK11.06053246
34LRRK21.05824895
35PAK31.05532513
36ILK1.03315939
37PRKD21.02623503
38MYLK1.02333576
39RPS6KA20.98623741
40ROCK10.96685935
41NEK90.95899646
42FGFR20.95766918
43FLT30.95559605
44EPHB10.92653644
45CAMK1D0.91406252
46PTK2B0.91399617
47PRPF4B0.91271159
48ERBB40.89911352
49PAK60.89069663
50MOS0.87938863
51GRK50.86762580
52DAPK30.81643812
53RPS6KA40.79195216
54PRKD30.78632328
55IRAK30.78202717
56SMG10.76127288
57PRKCH0.75426394
58PIK3CA0.74537280
59FGFR30.70532707
60ROCK20.70304234
61TGFBR10.70115007
62PIM20.65714422
63FGFR40.63383051
64KIT0.62886338
65CLK10.62500047
66TYK20.62256710
67FRK0.61609629
68TAOK20.60241720
69ERBB30.60020709
70JAK30.59638484
71TIE10.59383581
72PRKD10.58845276
73CAMK1G0.57527041
74ICK0.57436596
75JAK10.56956219
76RPS6KC10.56033044
77RPS6KL10.56033044
78TYRO30.54729031
79WNK10.54279702
80RET0.54153275
81ZAP700.53457797
82MAP3K70.52631696
83ADRBK10.52033372
84MAPKAPK30.51451565
85MAP2K10.50691946
86INSR0.49256454
87MELK0.48713817
88LMTK20.46806641
89GRK10.46586632
90GRK70.45202388
91CSF1R0.45075577
92KSR20.44787641
93ARAF0.43389662
94SRC0.42744417
95ABL20.42051043
96PAK10.41958998
97MAP3K30.41288497
98CAMK2G0.40968090
99CDK60.40730693
100MARK20.40693507
101PLK20.39795150
102TBK10.39297587
103MAPK70.38335150
104SCYL20.37767318
105RPS6KA60.37435477
106MAPKAPK20.36826991
107DYRK1B0.36466046
108TESK10.36382319
109STK380.35359060
110MAPK10.35002434
111CDC42BPA0.34841095
112PIK3CG0.33581091
113CSK0.32571403
114PRKG20.31925889
115MAPK40.30305596
116CDK70.28920418
117CDK80.28528451
118CHUK0.27281147
119MAP2K30.27034798
120AKT20.26994673
121IGF1R0.26846242
122MAP3K130.26715966
123GSK3A0.26473090
124NUAK10.25647117
125PDPK10.25632517
126MST1R0.25318993
127ABL10.24780604
128STK100.24127275
129OBSCN0.23915125
130LIMK10.23569071

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.21367176
2Focal adhesion_Homo sapiens_hsa045103.38784679
3Protein digestion and absorption_Homo sapiens_hsa049743.27075483
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.64496587
5Amoebiasis_Homo sapiens_hsa051462.39605416
6* Proteoglycans in cancer_Homo sapiens_hsa052052.31984320
7Malaria_Homo sapiens_hsa051442.20899470
8TGF-beta signaling pathway_Homo sapiens_hsa043502.17696309
9* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.17180371
10Basal cell carcinoma_Homo sapiens_hsa052172.15795742
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.06798805
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.06364433
13Adherens junction_Homo sapiens_hsa045202.04179571
14Dilated cardiomyopathy_Homo sapiens_hsa054142.02806786
15Small cell lung cancer_Homo sapiens_hsa052221.94927973
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.87567396
17Hippo signaling pathway_Homo sapiens_hsa043901.86608541
18MicroRNAs in cancer_Homo sapiens_hsa052061.84599926
19Hedgehog signaling pathway_Homo sapiens_hsa043401.77933872
20Chronic myeloid leukemia_Homo sapiens_hsa052201.73033567
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.72072196
22Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.68889088
23* Bladder cancer_Homo sapiens_hsa052191.67354976
24Melanoma_Homo sapiens_hsa052181.60779179
25Glioma_Homo sapiens_hsa052141.32300529
26Prostate cancer_Homo sapiens_hsa052151.31061218
27* Pathways in cancer_Homo sapiens_hsa052001.29081297
28Regulation of actin cytoskeleton_Homo sapiens_hsa048101.26962530
29Viral myocarditis_Homo sapiens_hsa054161.26046469
30Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.25808415
31Pancreatic cancer_Homo sapiens_hsa052121.18844022
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.18829968
33Wnt signaling pathway_Homo sapiens_hsa043101.14738128
34p53 signaling pathway_Homo sapiens_hsa041151.14639084
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.11185613
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.10798817
37Notch signaling pathway_Homo sapiens_hsa043301.03511485
38Toxoplasmosis_Homo sapiens_hsa051451.02872679
39Platelet activation_Homo sapiens_hsa046111.01547536
40HTLV-I infection_Homo sapiens_hsa051660.99218829
41Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.97276019
42Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.96945261
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96097350
44Pertussis_Homo sapiens_hsa051330.95872812
45Rap1 signaling pathway_Homo sapiens_hsa040150.95105771
46Tight junction_Homo sapiens_hsa045300.92721269
47Axon guidance_Homo sapiens_hsa043600.91912413
48N-Glycan biosynthesis_Homo sapiens_hsa005100.90826894
49TNF signaling pathway_Homo sapiens_hsa046680.90697204
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89408091
51* Leukocyte transendothelial migration_Homo sapiens_hsa046700.86717260
52Vibrio cholerae infection_Homo sapiens_hsa051100.84952512
53Colorectal cancer_Homo sapiens_hsa052100.84797356
54mTOR signaling pathway_Homo sapiens_hsa041500.81331460
55Melanogenesis_Homo sapiens_hsa049160.80651849
56Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75704755
57Renal cell carcinoma_Homo sapiens_hsa052110.75429390
58Insulin resistance_Homo sapiens_hsa049310.75343853
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.74941507
60Endometrial cancer_Homo sapiens_hsa052130.72687276
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69723949
62Galactose metabolism_Homo sapiens_hsa000520.68992341
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.68536992
64HIF-1 signaling pathway_Homo sapiens_hsa040660.68383767
65Lysine degradation_Homo sapiens_hsa003100.67355204
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65928292
67Ovarian steroidogenesis_Homo sapiens_hsa049130.64686160
68Viral carcinogenesis_Homo sapiens_hsa052030.64591558
69Renin-angiotensin system_Homo sapiens_hsa046140.62648383
70Phagosome_Homo sapiens_hsa041450.62521805
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.62425537
72Hepatitis B_Homo sapiens_hsa051610.62041202
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.61601812
74Thyroid cancer_Homo sapiens_hsa052160.61161907
75Thyroid hormone synthesis_Homo sapiens_hsa049180.59895462
76Shigellosis_Homo sapiens_hsa051310.59677032
77AMPK signaling pathway_Homo sapiens_hsa041520.59286283
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58675137
79Lysosome_Homo sapiens_hsa041420.58089978
80FoxO signaling pathway_Homo sapiens_hsa040680.57906426
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.56934437
82Caffeine metabolism_Homo sapiens_hsa002320.56846683
83Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56398694
84Ras signaling pathway_Homo sapiens_hsa040140.56119253
85Gap junction_Homo sapiens_hsa045400.55919697
86Apoptosis_Homo sapiens_hsa042100.54407671
87Adipocytokine signaling pathway_Homo sapiens_hsa049200.54374718
88Transcriptional misregulation in cancer_Homo sapiens_hsa052020.52500892
89Prion diseases_Homo sapiens_hsa050200.51455105
90Prolactin signaling pathway_Homo sapiens_hsa049170.50541520
91Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.49094258
92cGMP-PKG signaling pathway_Homo sapiens_hsa040220.48221042
93Non-small cell lung cancer_Homo sapiens_hsa052230.48176880
94Acute myeloid leukemia_Homo sapiens_hsa052210.48102341
95Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.47841505
96Endocytosis_Homo sapiens_hsa041440.47334719
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.45820449
98VEGF signaling pathway_Homo sapiens_hsa043700.45762540
99Insulin signaling pathway_Homo sapiens_hsa049100.44497284
100Sphingolipid metabolism_Homo sapiens_hsa006000.43044978
101Other glycan degradation_Homo sapiens_hsa005110.42517851
102Cell cycle_Homo sapiens_hsa041100.41672357
103* Estrogen signaling pathway_Homo sapiens_hsa049150.41533793
104Salmonella infection_Homo sapiens_hsa051320.41281969
105Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40080615
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38952437
107Choline metabolism in cancer_Homo sapiens_hsa052310.38798177
108Sulfur metabolism_Homo sapiens_hsa009200.37676954
109Mineral absorption_Homo sapiens_hsa049780.37666757
110MAPK signaling pathway_Homo sapiens_hsa040100.37077492
111Osteoclast differentiation_Homo sapiens_hsa043800.36851828
112* GnRH signaling pathway_Homo sapiens_hsa049120.35938047
113Leishmaniasis_Homo sapiens_hsa051400.35906532
114Cocaine addiction_Homo sapiens_hsa050300.35764657
115Hepatitis C_Homo sapiens_hsa051600.35668647
116Complement and coagulation cascades_Homo sapiens_hsa046100.33624543
117Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32991594

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