ADAMTS2

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 a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)7.94686617
2* collagen fibril organization (GO:0030199)6.44348069
3sequestering of extracellular ligand from receptor (GO:0035581)5.68399688
4bone trabecula formation (GO:0060346)5.67043421
5extracellular fibril organization (GO:0043206)5.44138753
6* collagen metabolic process (GO:0032963)4.82070145
7* collagen catabolic process (GO:0030574)4.78492231
8chondrocyte proliferation (GO:0035988)4.77134569
9fibril organization (GO:0097435)4.62453877
10* multicellular organismal macromolecule metabolic process (GO:0044259)4.55224980
11negative regulation of complement activation (GO:0045916)4.53664891
12skin morphogenesis (GO:0043589)4.50312146
13type B pancreatic cell proliferation (GO:0044342)4.44626408
14* multicellular organismal catabolic process (GO:0044243)4.38246136
15* multicellular organismal metabolic process (GO:0044236)4.29256819
16glomerular basement membrane development (GO:0032836)4.21238092
17extracellular matrix assembly (GO:0085029)4.17454977
18keratan sulfate catabolic process (GO:0042340)4.05757109
19endodermal cell differentiation (GO:0035987)3.99240618
20regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.99110452
21extracellular matrix disassembly (GO:0022617)3.96852376
22basement membrane organization (GO:0071711)3.96635933
23negative regulation of smooth muscle cell migration (GO:0014912)3.92581989
24neuron projection extension involved in neuron projection guidance (GO:1902284)3.90300482
25axon extension involved in axon guidance (GO:0048846)3.90300482
26tooth mineralization (GO:0034505)3.89177192
27mesenchymal-epithelial cell signaling (GO:0060638)3.79194680
28blood vessel maturation (GO:0001955)3.77944585
29dermatan sulfate biosynthetic process (GO:0030208)3.77823067
30retina vasculature morphogenesis in camera-type eye (GO:0061299)3.76864674
31glomerular filtration (GO:0003094)3.67212529
32peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.66663473
33metanephric mesenchyme development (GO:0072075)3.66264518
34extracellular negative regulation of signal transduction (GO:1900116)3.60923305
35extracellular regulation of signal transduction (GO:1900115)3.60923305
36cell adhesion mediated by integrin (GO:0033627)3.52603695
37negative regulation of protein activation cascade (GO:2000258)3.46821481
38positive regulation of endothelial cell apoptotic process (GO:2000353)3.46067040
39dermatan sulfate metabolic process (GO:0030205)3.45437902
40kidney mesenchyme development (GO:0072074)3.41780097
41stress fiber assembly (GO:0043149)3.31342097
42negative regulation of leukocyte chemotaxis (GO:0002689)3.28055141
43negative regulation of fatty acid transport (GO:2000192)3.27529610
44positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.23581172
45substrate-dependent cell migration (GO:0006929)3.21883633
46planar cell polarity pathway involved in neural tube closure (GO:0090179)3.21706102
47regulation of plasminogen activation (GO:0010755)3.20771055
48* extracellular matrix organization (GO:0030198)3.20658282
49barbed-end actin filament capping (GO:0051016)3.20211322
50craniofacial suture morphogenesis (GO:0097094)3.19734617
51* extracellular structure organization (GO:0043062)3.19504474
52glial cell migration (GO:0008347)3.18416363
53renal filtration (GO:0097205)3.18193077
54regulation of extracellular matrix disassembly (GO:0010715)3.11191716
55chondroitin sulfate biosynthetic process (GO:0030206)3.09558384
56substrate adhesion-dependent cell spreading (GO:0034446)3.09193110
57positive regulation of blood vessel endothelial cell migration (GO:0043536)3.09175116
58positive regulation of fibroblast migration (GO:0010763)3.08789246
59endocardial cushion development (GO:0003197)3.08148641
60cellular response to amino acid stimulus (GO:0071230)3.07474564
61regulation of integrin-mediated signaling pathway (GO:2001044)3.04953191
62cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.04500277
63detection of molecule of bacterial origin (GO:0032490)3.04293087
64regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.04231154
65heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.03039799
66myelination in peripheral nervous system (GO:0022011)3.01887652
67peripheral nervous system axon ensheathment (GO:0032292)3.01887652
68ovulation from ovarian follicle (GO:0001542)3.01195095
69positive regulation of osteoblast proliferation (GO:0033690)3.00723398
70regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.98923139
71regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.98244600
72negative regulation of chondrocyte differentiation (GO:0032331)2.96713009
73trabecula formation (GO:0060343)2.92829976
74cell migration involved in heart development (GO:0060973)2.88855555
75wound healing, spreading of epidermal cells (GO:0035313)2.86314683
76cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.85481467
77chondrocyte development (GO:0002063)2.83934065
78outer ear morphogenesis (GO:0042473)2.83081309
79chondroitin sulfate catabolic process (GO:0030207)2.82518001
80apoptotic cell clearance (GO:0043277)2.82457636
81cell-substrate junction assembly (GO:0007044)2.81510430
82cellular response to vitamin (GO:0071295)2.81393937
83virion attachment to host cell (GO:0019062)2.79070839
84adhesion of symbiont to host cell (GO:0044650)2.79070839
85negative regulation of BMP signaling pathway (GO:0030514)2.78721461
86opsonization (GO:0008228)2.78598212
87branching involved in salivary gland morphogenesis (GO:0060445)2.77741567
88negative regulation of humoral immune response (GO:0002921)2.77084693
89embryonic cranial skeleton morphogenesis (GO:0048701)2.76319837
90protein retention in ER lumen (GO:0006621)2.75406382
91smooth muscle tissue development (GO:0048745)2.75283530
92regulation of cartilage development (GO:0061035)2.73737031
93protein localization to cell surface (GO:0034394)2.73310912
94face morphogenesis (GO:0060325)2.73209488
95wound healing, spreading of cells (GO:0044319)2.71674702
96endothelial cell proliferation (GO:0001935)2.71555077
97vascular endothelial growth factor signaling pathway (GO:0038084)2.71168652
98endothelial cell morphogenesis (GO:0001886)2.70667614
99regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.68223001
100pathway-restricted SMAD protein phosphorylation (GO:0060389)2.67663097
101peptidyl-proline hydroxylation (GO:0019511)2.65168122
102artery morphogenesis (GO:0048844)2.64788858
103negative regulation of cartilage development (GO:0061037)2.64617653
104cell migration involved in sprouting angiogenesis (GO:0002042)2.64078887
105regulation of smooth muscle cell migration (GO:0014910)2.63759094
106plasma membrane repair (GO:0001778)2.62642368
107positive regulation of extracellular matrix organization (GO:1903055)2.62425618
108regulation of chondrocyte differentiation (GO:0032330)2.61955137
109pericardium development (GO:0060039)2.61836338
110vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.61684825
111protein trimerization (GO:0070206)2.59860113
112negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.58719583
113cell proliferation involved in metanephros development (GO:0072203)2.57874538
114muscle cell migration (GO:0014812)2.57254675
115regulation of chemokine-mediated signaling pathway (GO:0070099)2.56383296
116maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.56144052
117cochlea morphogenesis (GO:0090103)2.55481514
118lymphangiogenesis (GO:0001946)2.54700251
119cell proliferation involved in kidney development (GO:0072111)2.54522208
120regulation of osteoblast proliferation (GO:0033688)2.52988577
121negative regulation of catenin import into nucleus (GO:0035414)2.52614739
122negative regulation of cardiac muscle tissue growth (GO:0055022)2.49602066
123negative regulation of heart growth (GO:0061117)2.49602066
124venous blood vessel morphogenesis (GO:0048845)2.49338621
125Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.47976058
126positive regulation of p38MAPK cascade (GO:1900745)2.47562444
127cardiac myofibril assembly (GO:0055003)2.47561651
128regulation of p38MAPK cascade (GO:1900744)2.46710322
129import into cell (GO:0098657)2.46396979
130mesenchyme morphogenesis (GO:0072132)2.45720690
131non-canonical Wnt signaling pathway (GO:0035567)2.44760257
132positive regulation of mesenchymal cell proliferation (GO:0002053)2.44667440
133middle ear morphogenesis (GO:0042474)2.44591188
134positive regulation of fat cell differentiation (GO:0045600)2.42524392
135regulation of macrophage cytokine production (GO:0010935)2.42361186
136adhesion of symbiont to host (GO:0044406)2.41553086
137negative regulation of embryonic development (GO:0045992)2.41221997
138regulation of establishment of planar polarity (GO:0090175)2.40544787
139positive regulation of cartilage development (GO:0061036)2.39884841

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.17841761
2TP63_17297297_ChIP-ChIP_HaCaT_Human3.32165578
3* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.26710840
4* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.84579036
5RARG_19884340_ChIP-ChIP_MEFs_Mouse2.81787362
6* EED_16625203_ChIP-ChIP_MESCs_Mouse2.35957508
7CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.31219760
8CDX2_19796622_ChIP-Seq_MESCs_Mouse2.27882453
9CJUN_26792858_Chip-Seq_BT549_Human2.17257030
10EP300_21415370_ChIP-Seq_HL-1_Mouse2.16768378
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.14384774
12GBX2_23144817_ChIP-Seq_PC3_Human2.13767805
13* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.13368107
14* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.13368107
15* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.11679112
16* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.03240500
17* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.97070426
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.96614508
19* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.85806045
20CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.83734221
21SMAD_19615063_ChIP-ChIP_OVARY_Human1.74585921
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.74267368
23WT1_19549856_ChIP-ChIP_CCG9911_Human1.74231150
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73787868
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.72409274
26RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.69411468
27NRF2_20460467_ChIP-Seq_MEFs_Mouse1.69123757
28NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.69123757
29ESR1_21235772_ChIP-Seq_MCF-7_Human1.62760331
30* EZH2_27304074_Chip-Seq_ESCs_Mouse1.62356603
31* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.60232809
32RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.59988205
33EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.59879591
34* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59631856
35ELK3_25401928_ChIP-Seq_HUVEC_Human1.58722174
36TP53_18474530_ChIP-ChIP_U2OS_Human1.57439796
37CLOCK_20551151_ChIP-Seq_293T_Human1.53885711
38* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.53786191
39DROSHA_22980978_ChIP-Seq_HELA_Human1.53526196
40* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.50823632
41HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.50815967
42ZNF217_24962896_ChIP-Seq_MCF-7_Human1.48646309
43RNF2_27304074_Chip-Seq_ESCs_Mouse1.48268089
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47530280
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.44290487
46SOX9_24532713_ChIP-Seq_HFSC_Mouse1.38892016
47* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.38854689
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.38253952
49AR_21572438_ChIP-Seq_LNCaP_Human1.37606803
50TP53_20018659_ChIP-ChIP_R1E_Mouse1.37105526
51BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.36165380
52NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.35017741
53TP53_16413492_ChIP-PET_HCT116_Human1.33356498
54* BRD4_25478319_ChIP-Seq_HGPS_Human1.29689425
55PPAR_26484153_Chip-Seq_NCI-H1993_Human1.28155637
56TP53_22127205_ChIP-Seq_IMR90_Human1.25845166
57WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.24535551
58* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.24213305
59ESR2_21235772_ChIP-Seq_MCF-7_Human1.22930259
60AHR_22903824_ChIP-Seq_MCF-7_Human1.22411445
61EZH2_22144423_ChIP-Seq_EOC_Human1.21865637
62* EZH2_27294783_Chip-Seq_ESCs_Mouse1.21324715
63P300_27058665_Chip-Seq_ZR-75-30cells_Human1.20571035
64SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.19337792
65* TP53_23651856_ChIP-Seq_MEFs_Mouse1.16459578
66ISL1_27105846_Chip-Seq_CPCs_Mouse1.15894551
67MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.14838926
68PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.13546176
69* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.09691029
70TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08580797
71JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08562252
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.07605462
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.07228761
74ESR1_20079471_ChIP-ChIP_T-47D_Human1.06903305
75* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06885448
76UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06618625
77BCAT_22108803_ChIP-Seq_LS180_Human1.04345176
78TBX20_22080862_ChIP-Seq_HEART_Mouse1.03142130
79TBX20_22328084_ChIP-Seq_HEART_Mouse1.03142130
80SMC1_22415368_ChIP-Seq_MEFs_Mouse1.00911802
81JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00473006
82TCF4_18268006_ChIP-ChIP_LS174T_Human1.00441011
83SOX2_20726797_ChIP-Seq_SW620_Human0.99969227
84CBX2_27304074_Chip-Seq_ESCs_Mouse0.95265851
85FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.94760641
86TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94138651
87ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94067222
88CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92562438
89RAD21_21589869_ChIP-Seq_MESCs_Mouse0.92524434
90NFIB_24661679_ChIP-Seq_LUNG_Mouse0.92220683
91SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.92026520
92SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.92026520
93IKZF1_21737484_ChIP-ChIP_HCT116_Human0.91866400
94VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91497902
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90442869
96* SA1_22415368_ChIP-Seq_MEFs_Mouse0.90386110
97* RING1B_27294783_Chip-Seq_ESCs_Mouse0.89960716
98TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.89850648
99AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89276151
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.89180384
101SMAD3_21741376_ChIP-Seq_HESCs_Human0.88745749
102DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87575835
103KDM2B_26808549_Chip-Seq_K562_Human0.87303762
104* RING1B_27294783_Chip-Seq_NPCs_Mouse0.87131903
105* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.86941284
106LXR_22292898_ChIP-Seq_THP-1_Human0.86434185
107NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85244721
108VDR_24787735_ChIP-Seq_THP-1_Human0.84685149
109SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.83574690
110UBF1/2_26484160_Chip-Seq_HMECs_Human0.83246447
111TET1_21490601_ChIP-Seq_MESCs_Mouse0.82507388
112TP63_23658742_ChIP-Seq_EP156T_Human0.82023626
113PCGF2_27294783_Chip-Seq_NPCs_Mouse0.81882868
114P63_26484246_Chip-Seq_KERATINOCYTES_Human0.80746604
115ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80607570
116TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.80575417
117SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.80322626
118SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.80320135
119* SMAD4_21799915_ChIP-Seq_A2780_Human0.80276360
120SALL4_18804426_ChIP-ChIP_XEN_Mouse0.79957518
121HIF1A_21447827_ChIP-Seq_MCF-7_Human0.79766294
122GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.79447604
123PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.79244023
124ZFP57_27257070_Chip-Seq_ESCs_Mouse0.78631138

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen9.21203578
2MP0005503_abnormal_tendon_morphology6.55321927
3MP0005275_abnormal_skin_tensile6.54693908
4MP0003279_aneurysm3.55117830
5* MP0001958_emphysema2.94203900
6MP0004272_abnormal_basement_membrane2.86902370
7MP0003705_abnormal_hypodermis_morpholog2.76193719
8MP0005508_abnormal_skeleton_morphology2.42659273
9MP0002108_abnormal_muscle_morphology2.34888361
10* MP0002060_abnormal_skin_morphology2.34446987
11MP0006054_spinal_hemorrhage2.29757398
12MP0005257_abnormal_intraocular_pressure2.12528952
13MP0005623_abnormal_meninges_morphology2.09199633
14MP0000751_myopathy1.98667282
15MP0005171_absent_coat_pigmentation1.96048654
16MP0009384_cardiac_valve_regurgitation1.93894455
17MP0001542_abnormal_bone_strength1.92743276
18MP0009250_abnormal_appendicular_skeleto1.74366405
19MP0002295_abnormal_pulmonary_circulatio1.59525775
20MP0010368_abnormal_lymphatic_system1.56137619
21MP0002837_dystrophic_cardiac_calcinosis1.54788627
22MP0003566_abnormal_cell_adhesion1.49944615
23MP0003385_abnormal_body_wall1.49462118
24MP0002933_joint_inflammation1.38100528
25MP0001243_abnormal_dermal_layer1.36183062
26MP0000767_abnormal_smooth_muscle1.35884606
27MP0009780_abnormal_chondrocyte_physiolo1.34610019
28MP0005390_skeleton_phenotype1.33362227
29MP0003941_abnormal_skin_development1.32102536
30MP0002998_abnormal_bone_remodeling1.31161209
31MP0003045_fibrosis1.29721674
32MP0004134_abnormal_chest_morphology1.27837565
33MP0002896_abnormal_bone_mineralization1.26477112
34MP0004858_abnormal_nervous_system1.25282444
35MP0005023_abnormal_wound_healing1.24284926
36MP0001879_abnormal_lymphatic_vessel1.22533288
37MP0000013_abnormal_adipose_tissue1.19701770
38MP0005670_abnormal_white_adipose1.18007530
39MP0000163_abnormal_cartilage_morphology1.14654389
40MP0002115_abnormal_skeleton_extremities1.14517392
41MP0010030_abnormal_orbit_morphology1.11488071
42MP0003091_abnormal_cell_migration1.09164358
43MP0002249_abnormal_larynx_morphology1.07277828
44MP0002282_abnormal_trachea_morphology1.04058829
45MP0001299_abnormal_eye_distance/1.02879773
46MP0000049_abnormal_middle_ear1.01716628
47MP0002168_other_aberrant_phenotype0.99916586
48MP0000003_abnormal_adipose_tissue0.98059494
49MP0003950_abnormal_plasma_membrane0.94329737
50MP0002932_abnormal_joint_morphology0.94057224
51MP0010352_gastrointestinal_tract_polyps0.94028475
52MP0004185_abnormal_adipocyte_glucose0.93955488
53MP0005595_abnormal_vascular_smooth0.93135356
54MP0000428_abnormal_craniofacial_morphol0.90132028
55MP0005375_adipose_tissue_phenotype0.89724581
56MP0003115_abnormal_respiratory_system0.89403176
57MP0000733_abnormal_muscle_development0.89300324
58MP0005369_muscle_phenotype0.87458329
59MP0002113_abnormal_skeleton_development0.86451901
60MP0001348_abnormal_lacrimal_gland0.85596401
61MP0009379_abnormal_foot_pigmentation0.85359489
62MP0005164_abnormal_response_to0.83940944
63MP0000579_abnormal_nail_morphology0.83702626
64MP0010386_abnormal_urinary_bladder0.83565425
65MP0003828_pulmonary_edema0.80948581
66MP0000749_muscle_degeneration0.80865094
67MP0003724_increased_susceptibility_to0.80385021
68MP0002254_reproductive_system_inflammat0.78597865
69MP0000762_abnormal_tongue_morphology0.78522444
70MP0000566_synostosis0.78187149
71MP0000462_abnormal_digestive_system0.77290078
72MP0002116_abnormal_craniofacial_bone0.76381218
73MP0005666_abnormal_adipose_tissue0.75875128
74MP0001533_abnormal_skeleton_physiology0.75747756
75MP0001177_atelectasis0.75288692
76MP0000343_altered_response_to0.75125995
77MP0003795_abnormal_bone_structure0.74661321
78MP0001661_extended_life_span0.74376995
79* MP0002133_abnormal_respiratory_system0.73842701
80* MP0005388_respiratory_system_phenotype0.73842701
81MP0004883_abnormal_blood_vessel0.73236637
82MP0002109_abnormal_limb_morphology0.72352181
83MP0004084_abnormal_cardiac_muscle0.72339342
84MP0003755_abnormal_palate_morphology0.72275833
85MP0002128_abnormal_blood_circulation0.72112007
86MP0003448_altered_tumor_morphology0.71833828
87MP0000534_abnormal_ureter_morphology0.71668197
88MP0003283_abnormal_digestive_organ0.71264960
89MP0000759_abnormal_skeletal_muscle0.71180709
90MP0009053_abnormal_anal_canal0.70379912
91MP0003942_abnormal_urinary_system0.70119469
92MP0000750_abnormal_muscle_regeneration0.69938310
93MP0003935_abnormal_craniofacial_develop0.68576505
94MP0005197_abnormal_uvea_morphology0.68236150
95MP0005330_cardiomyopathy0.68165175
96MP0001849_ear_inflammation0.66886827
97* MP0010771_integument_phenotype0.66825084
98MP0000538_abnormal_urinary_bladder0.66446590
99* MP0000432_abnormal_head_morphology0.65243654
100MP0001614_abnormal_blood_vessel0.63129784
101MP0000681_abnormal_thyroid_gland0.62963028
102* MP0001175_abnormal_lung_morphology0.61372036
103MP0008775_abnormal_heart_ventricle0.60376303
104MP0001915_intracranial_hemorrhage0.59998453
105MP0005193_abnormal_anterior_eye0.58946483
106MP0002177_abnormal_outer_ear0.57415822
107MP0006138_congestive_heart_failure0.57288771
108MP0003300_gastrointestinal_ulcer0.56948797
109MP0002111_abnormal_tail_morphology0.56866247
110* MP0002114_abnormal_axial_skeleton0.56442205
111MP0004087_abnormal_muscle_fiber0.56410386
112MP0001270_distended_abdomen0.55005673
113MP0002877_abnormal_melanocyte_morpholog0.54782750
114MP0002233_abnormal_nose_morphology0.54741834
115MP0000516_abnormal_urinary_system0.53090979
116MP0005165_increased_susceptibility_to0.52436696
117MP0002925_abnormal_cardiovascular_devel0.48206814
118MP0005620_abnormal_muscle_contractility0.45928627
119MP0000467_abnormal_esophagus_morphology0.45484819
120MP0000249_abnormal_blood_vessel0.44464893

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.53334901
2* Premature rupture of membranes (HP:0001788)7.22443682
3Aortic dissection (HP:0002647)5.98216724
4Broad metatarsal (HP:0001783)5.79623663
5Ankle contracture (HP:0006466)5.55773710
6Atrophic scars (HP:0001075)4.95607323
7Follicular hyperkeratosis (HP:0007502)4.78566893
8* Soft skin (HP:0000977)4.60492069
9Shallow orbits (HP:0000586)4.56331725
10Cerebral aneurysm (HP:0004944)4.45943725
11Bladder diverticulum (HP:0000015)4.41886294
12Type 1 muscle fiber predominance (HP:0003803)4.18403351
13Aortic aneurysm (HP:0004942)4.08872198
14* Fragile skin (HP:0001030)3.63277624
15Peritonitis (HP:0002586)3.62721280
16Increased connective tissue (HP:0009025)3.62263014
17Spinal rigidity (HP:0003306)3.61940187
18Dilatation of the ascending aorta (HP:0005111)3.59297254
19Abnormality of dentin (HP:0010299)3.54260333
20Mitral valve prolapse (HP:0001634)3.50169490
21Spondylolisthesis (HP:0003302)3.46339548
22Wormian bones (HP:0002645)3.38319324
23Slender build (HP:0001533)3.37288165
24Cervical subluxation (HP:0003308)3.35004572
25Neonatal short-limb short stature (HP:0008921)3.33700189
26Vertebral compression fractures (HP:0002953)3.26227152
27Wrist flexion contracture (HP:0001239)3.25760926
28Genu recurvatum (HP:0002816)3.18919273
29* Blue sclerae (HP:0000592)3.10732338
30Biconcave vertebral bodies (HP:0004586)3.04489013
31Pulmonary artery stenosis (HP:0004415)2.92550361
32Vascular tortuosity (HP:0004948)2.88789322
33Osteolytic defects of the phalanges of the hand (HP:0009771)2.87175735
34Osteolytic defects of the hand bones (HP:0009699)2.87175735
35Increased variability in muscle fiber diameter (HP:0003557)2.85435222
36* Hyperextensible skin (HP:0000974)2.81451084
37Mildly elevated creatine phosphokinase (HP:0008180)2.77404745
38Aortic valve stenosis (HP:0001650)2.74395062
39Overgrowth (HP:0001548)2.66409789
40Bell-shaped thorax (HP:0001591)2.64864734
41Arterial tortuosity (HP:0005116)2.63569580
42Hypoventilation (HP:0002791)2.61535311
43Coronal craniosynostosis (HP:0004440)2.58655707
44Flat cornea (HP:0007720)2.57969760
45Alopecia of scalp (HP:0002293)2.57261881
46Hypoplasia of the iris (HP:0007676)2.47198043
47Abnormality of skeletal muscle fiber size (HP:0012084)2.44848610
48Elbow flexion contracture (HP:0002987)2.44103608
49* Joint laxity (HP:0001388)2.44048951
50Round ear (HP:0100830)2.43965748
51Narrow nasal bridge (HP:0000446)2.42237817
52* Abnormal delivery (HP:0001787)2.41830925
53Broad ribs (HP:0000885)2.41624793
54Bowel diverticulosis (HP:0005222)2.40856390
55Aortic regurgitation (HP:0001659)2.37583067
56Striae distensae (HP:0001065)2.37426581
57Mitral regurgitation (HP:0001653)2.27636131
58Morphological abnormality of the middle ear (HP:0008609)2.26384031
59Infantile muscular hypotonia (HP:0008947)2.25106986
60Osteoarthritis (HP:0002758)2.25007643
61Breech presentation (HP:0001623)2.24803420
62Venous insufficiency (HP:0005293)2.24209099
63Abnormality of the acetabulum (HP:0003170)2.23479406
64Aneurysm (HP:0002617)2.23203041
65Venous abnormality (HP:0002624)2.21121646
66Muscle fiber splitting (HP:0003555)2.11140939
67Disproportionate tall stature (HP:0001519)2.10029268
68Ulnar bowing (HP:0003031)2.06687131
69Ectopia lentis (HP:0001083)2.04798433
70Premature skin wrinkling (HP:0100678)2.03931198
71Thin bony cortex (HP:0002753)2.03902653
72Increased corneal curvature (HP:0100692)2.03216626
73Keratoconus (HP:0000563)2.03216626
74Ovoid vertebral bodies (HP:0003300)2.03109652
75Femoral bowing (HP:0002980)2.03008541
76Deviation of the hallux (HP:0010051)2.01026766
77Camptodactyly of toe (HP:0001836)1.97372911
78* Wide anterior fontanel (HP:0000260)1.96153236
79Absent frontal sinuses (HP:0002688)1.95652680
80Right ventricular cardiomyopathy (HP:0011663)1.94246413
81Broad long bones (HP:0005622)1.93130797
82Generalized amyotrophy (HP:0003700)1.92196696
83Tibial bowing (HP:0002982)1.91545965
84Renal duplication (HP:0000075)1.89227067
85Short hallux (HP:0010109)1.88778911
86Hallux valgus (HP:0001822)1.88000686
87Mesomelia (HP:0003027)1.86001921
88Hyporeflexia of lower limbs (HP:0002600)1.85382498
89Mitral stenosis (HP:0001718)1.84296727
90Aplasia involving bones of the upper limbs (HP:0009823)1.83371251
91Aplasia of the phalanges of the hand (HP:0009802)1.83371251
92Aplasia involving bones of the extremities (HP:0009825)1.83371251
93Emphysema (HP:0002097)1.81468056
94Nonimmune hydrops fetalis (HP:0001790)1.81388328
95Protruding ear (HP:0000411)1.80840489
96Hip contracture (HP:0003273)1.80746406
97Abnormality of skull ossification (HP:0002703)1.79321154
98Limited hip movement (HP:0008800)1.78011927
99Mild short stature (HP:0003502)1.77678171
100Deformed tarsal bones (HP:0008119)1.77320051
101Decreased skull ossification (HP:0004331)1.75862056
102Limb-girdle muscle weakness (HP:0003325)1.75857700
103Tarsal synostosis (HP:0008368)1.75070297
104Persistence of primary teeth (HP:0006335)1.74742363
105Flared iliac wings (HP:0002869)1.74109153
106* Inguinal hernia (HP:0000023)1.73226123
107Renovascular hypertension (HP:0100817)1.72363694
108Knee flexion contracture (HP:0006380)1.72341820
109Ulnar deviation of the wrist (HP:0003049)1.72093838
110Calcaneovalgus deformity (HP:0001848)1.71649070
111Abnormality of the anterior chamber (HP:0000593)1.69858752
112Cardiovascular calcification (HP:0011915)1.69045108
113Spinal cord lesions (HP:0100561)1.68619278
114Syringomyelia (HP:0003396)1.68619278
115Coxa vara (HP:0002812)1.68391302
116Joint stiffness (HP:0001387)1.68322109
117Delayed gross motor development (HP:0002194)1.67366979

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.58592127
2PDGFRA3.66453596
3TTN3.04772883
4TGFBR22.99818085
5LATS12.98573178
6EPHB22.60771378
7DMPK2.51071691
8EPHA32.43142627
9SIK12.33421360
10MYLK2.33322008
11TESK12.28023363
12TRIB32.26654994
13FER2.11638055
14STK38L1.98263114
15LATS21.92572918
16NTRK11.92412127
17LIMK11.91966343
18TRPM71.91907094
19FGFR21.73769610
20EPHB11.66767093
21AKT31.63894816
22CAMK1D1.51095407
23ERN11.49162908
24PDGFRB1.46944267
25TIE11.45363652
26BMX1.42800308
27STK31.42629254
28RIPK11.36170662
29FLT31.32048723
30PRPF4B1.32021484
31NEK91.30874469
32PIK3CA1.30254548
33CAMK1G1.25737128
34PRKD21.21915345
35ROCK11.17791972
36MET1.13863698
37MOS1.09340323
38PAK21.07742788
39PRKG21.02902811
40RPS6KA21.02426844
41PTK2B1.02181961
42NUAK11.01790235
43JAK11.01037678
44STK241.00747818
45PKN21.00590924
46ICK0.99878007
47KIT0.97617723
48WNK10.95091838
49ROCK20.93992718
50CDC42BPA0.91696002
51ZAK0.89814242
52PRKCH0.89202420
53FGFR10.89051308
54LMTK20.86511425
55OBSCN0.85260866
56NLK0.84086373
57PKN10.81334583
58FGFR30.79755858
59INSRR0.78580769
60FRK0.77855961
61CASK0.77815948
62PRKCE0.76331251
63EIF2AK20.76286047
64PTK20.76096295
65PIK3CG0.75443183
66PHKG10.75318469
67PHKG20.75318469
68PRKD10.74852857
69TYK20.71032362
70PAK40.70726704
71IRAK10.70275269
72PRKD30.69071524
73MUSK0.67364215
74MST1R0.65711690
75MAP2K10.62980745
76FGFR40.62009395
77PAK30.61465559
78CSK0.60576732
79MAPKAPK30.58514366
80PAK60.58318609
81INSR0.55914290
82MAP2K30.55484435
83TAOK20.55445631
84GSK3A0.55009158
85GRK70.54457163
86MAP3K30.54256864
87MAPKAPK50.53427874
88PTK60.53239565
89MTOR0.52901773
90PLK20.51652364
91JAK30.50501252
92ADRBK10.50340224
93PRKAA20.50027305
94YES10.49877842
95ERBB40.48882232
96GRK50.48438065
97BMPR1B0.48076479
98MELK0.46767904
99NEK60.46406759
100ERBB30.46117532
101ILK0.44206461
102PINK10.43612497
103CAMK2D0.43563264
104MAPK70.43180136
105PIM20.41987751
106SRC0.41391605
107EEF2K0.40963666
108MAPK40.40848293
109CAMK2G0.40729722
110STK380.39798991
111DAPK30.39786073
112CAMK10.39606220
113PDK20.38048581
114IRAK30.37731835
115ABL10.37430912
116MAPK10.37075679
117PAK10.36934956
118MAP3K70.35915834
119ABL20.34766210
120ZAP700.34610556
121RPS6KC10.34015531
122RPS6KL10.34015531
123MAPK120.33333705
124RPS6KA60.33036053
125RET0.32948678
126HIPK20.32534276
127CLK10.32197286
128MARK20.31598945
129GRK10.31032367
130MARK10.30548892
131HCK0.30154624
132TGFBR10.29946762
133MAP3K60.29562207
134ADRBK20.28064861
135PRKG10.25006243

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.01681491
2Protein digestion and absorption_Homo sapiens_hsa049743.12949582
3Focal adhesion_Homo sapiens_hsa045102.84784933
4Malaria_Homo sapiens_hsa051442.50928017
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.39203789
6Dilated cardiomyopathy_Homo sapiens_hsa054142.28077679
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.25894305
8Amoebiasis_Homo sapiens_hsa051462.11956213
9Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.09158698
10AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.07973004
11TGF-beta signaling pathway_Homo sapiens_hsa043501.95555362
12Basal cell carcinoma_Homo sapiens_hsa052171.92409224
13Glycosaminoglycan degradation_Homo sapiens_hsa005311.80710733
14Proteoglycans in cancer_Homo sapiens_hsa052051.79252706
15PI3K-Akt signaling pathway_Homo sapiens_hsa041511.77353178
16Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.61285363
17Hedgehog signaling pathway_Homo sapiens_hsa043401.46353226
18Adherens junction_Homo sapiens_hsa045201.45998866
19Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.41258522
20Small cell lung cancer_Homo sapiens_hsa052221.40810468
21Melanoma_Homo sapiens_hsa052181.36882972
22Hippo signaling pathway_Homo sapiens_hsa043901.36829971
23Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.34273736
24Arachidonic acid metabolism_Homo sapiens_hsa005901.26390384
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.19729351
26Viral myocarditis_Homo sapiens_hsa054161.19658384
27Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.16319060
28Axon guidance_Homo sapiens_hsa043601.16307508
29Wnt signaling pathway_Homo sapiens_hsa043101.16036253
30Ovarian steroidogenesis_Homo sapiens_hsa049131.14942313
31Regulation of actin cytoskeleton_Homo sapiens_hsa048101.13551188
32Prion diseases_Homo sapiens_hsa050201.11301017
33MicroRNAs in cancer_Homo sapiens_hsa052061.05967295
34Pathways in cancer_Homo sapiens_hsa052001.05631946
35Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.98926073
36Sphingolipid metabolism_Homo sapiens_hsa006000.98849903
37Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.97664664
38Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.97660741
39Fatty acid biosynthesis_Homo sapiens_hsa000610.97172826
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.95965417
41Prostate cancer_Homo sapiens_hsa052150.95604887
42Vascular smooth muscle contraction_Homo sapiens_hsa042700.93787100
43Phagosome_Homo sapiens_hsa041450.92885381
44Toxoplasmosis_Homo sapiens_hsa051450.91724249
45Lysosome_Homo sapiens_hsa041420.91242510
46Chronic myeloid leukemia_Homo sapiens_hsa052200.91004156
47Ras signaling pathway_Homo sapiens_hsa040140.90062250
48Other glycan degradation_Homo sapiens_hsa005110.89116474
49Bladder cancer_Homo sapiens_hsa052190.88402554
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.88350258
51Rap1 signaling pathway_Homo sapiens_hsa040150.85768313
52Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85532572
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.85132261
54Rheumatoid arthritis_Homo sapiens_hsa053230.84566812
55Renin-angiotensin system_Homo sapiens_hsa046140.84313161
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.82100399
57Complement and coagulation cascades_Homo sapiens_hsa046100.80440131
58Notch signaling pathway_Homo sapiens_hsa043300.80281849
59Sulfur metabolism_Homo sapiens_hsa009200.80036813
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.79392580
61Melanogenesis_Homo sapiens_hsa049160.77055372
62TNF signaling pathway_Homo sapiens_hsa046680.75907750
63Platelet activation_Homo sapiens_hsa046110.75759067
64Caffeine metabolism_Homo sapiens_hsa002320.74524167
65Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.74143146
66Tight junction_Homo sapiens_hsa045300.72271379
67PPAR signaling pathway_Homo sapiens_hsa033200.70396284
68Pancreatic cancer_Homo sapiens_hsa052120.69614498
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69423009
70Leukocyte transendothelial migration_Homo sapiens_hsa046700.69395766
71Osteoclast differentiation_Homo sapiens_hsa043800.67179768
72Vibrio cholerae infection_Homo sapiens_hsa051100.64293867
73Cocaine addiction_Homo sapiens_hsa050300.60806343
74cGMP-PKG signaling pathway_Homo sapiens_hsa040220.59121423
75Staphylococcus aureus infection_Homo sapiens_hsa051500.58800770
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.58674706
77Aldosterone synthesis and secretion_Homo sapiens_hsa049250.58395580
78Glioma_Homo sapiens_hsa052140.57953362
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57688581
80Endocytosis_Homo sapiens_hsa041440.56833121
81mTOR signaling pathway_Homo sapiens_hsa041500.56788141
82Lysine degradation_Homo sapiens_hsa003100.56098734
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.54531741
84N-Glycan biosynthesis_Homo sapiens_hsa005100.53812605
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.52934573
86Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.51745856
87cAMP signaling pathway_Homo sapiens_hsa040240.51440498
88FoxO signaling pathway_Homo sapiens_hsa040680.51405380
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51394826
90Salmonella infection_Homo sapiens_hsa051320.47709310
91Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47565860
92AMPK signaling pathway_Homo sapiens_hsa041520.47490189
93Renin secretion_Homo sapiens_hsa049240.47371901
94MAPK signaling pathway_Homo sapiens_hsa040100.46588661
95Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.46530594
96Pertussis_Homo sapiens_hsa051330.45750549
97Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45196492
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.45180285
99HTLV-I infection_Homo sapiens_hsa051660.44809034
100Insulin resistance_Homo sapiens_hsa049310.44729645
101Renal cell carcinoma_Homo sapiens_hsa052110.43905637
102Jak-STAT signaling pathway_Homo sapiens_hsa046300.43586112
103GnRH signaling pathway_Homo sapiens_hsa049120.42772455
104Dorso-ventral axis formation_Homo sapiens_hsa043200.42014069
105Oxytocin signaling pathway_Homo sapiens_hsa049210.42006860
106Steroid hormone biosynthesis_Homo sapiens_hsa001400.40268521
107Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.39854039
108Tyrosine metabolism_Homo sapiens_hsa003500.39391548
109Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38529673
110Starch and sucrose metabolism_Homo sapiens_hsa005000.38470020
111Shigellosis_Homo sapiens_hsa051310.37782085
112Autoimmune thyroid disease_Homo sapiens_hsa053200.37636517
113alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.36539693
114Estrogen signaling pathway_Homo sapiens_hsa049150.36318491
115Tuberculosis_Homo sapiens_hsa051520.35848353
116Galactose metabolism_Homo sapiens_hsa000520.34800266
117Gap junction_Homo sapiens_hsa045400.34749734
118Calcium signaling pathway_Homo sapiens_hsa040200.33848943
119Thyroid hormone synthesis_Homo sapiens_hsa049180.33597190
120Hematopoietic cell lineage_Homo sapiens_hsa046400.33524580
121Choline metabolism in cancer_Homo sapiens_hsa052310.33032787
122ErbB signaling pathway_Homo sapiens_hsa040120.32043626
123p53 signaling pathway_Homo sapiens_hsa041150.31705354
124Prolactin signaling pathway_Homo sapiens_hsa049170.31326785
125Glucagon signaling pathway_Homo sapiens_hsa049220.27028174

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »