COL5A2

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 an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* collagen fibril organization (GO:0030199)7.66423725
2protein heterotrimerization (GO:0070208)7.65179961
3chondrocyte proliferation (GO:0035988)6.79762947
4sequestering of extracellular ligand from receptor (GO:0035581)6.63854828
5bone trabecula formation (GO:0060346)6.08419447
6skin morphogenesis (GO:0043589)6.00112216
7endodermal cell differentiation (GO:0035987)5.95681782
8cell adhesion mediated by integrin (GO:0033627)5.18363883
9axon extension involved in axon guidance (GO:0048846)5.07581946
10neuron projection extension involved in neuron projection guidance (GO:1902284)5.07581946
11* collagen metabolic process (GO:0032963)4.94110223
12negative regulation of fatty acid transport (GO:2000192)4.93560083
13* collagen catabolic process (GO:0030574)4.86673781
14positive regulation of endothelial cell apoptotic process (GO:2000353)4.70445582
15* multicellular organismal macromolecule metabolic process (GO:0044259)4.61743896
16wound healing, spreading of epidermal cells (GO:0035313)4.59537100
17cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.56310778
18regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.51617094
19cellular response to vitamin D (GO:0071305)4.45702746
20mesenchymal-epithelial cell signaling (GO:0060638)4.44394964
21* multicellular organismal catabolic process (GO:0044243)4.44181733
22* multicellular organismal metabolic process (GO:0044236)4.34816462
23cellular response to vitamin (GO:0071295)4.33689718
24cell migration involved in heart development (GO:0060973)4.23609298
25* extracellular matrix disassembly (GO:0022617)4.18520226
26extracellular fibril organization (GO:0043206)4.08183407
27plasma membrane repair (GO:0001778)4.06722700
28peptidyl-proline hydroxylation (GO:0019511)4.00863207
29dermatan sulfate biosynthetic process (GO:0030208)3.93751534
30positive regulation of macrophage activation (GO:0043032)3.90134892
31apoptotic cell clearance (GO:0043277)3.86226708
32epithelial cell-cell adhesion (GO:0090136)3.85830225
33fibril organization (GO:0097435)3.79134865
34wound healing, spreading of cells (GO:0044319)3.71896608
35protein localization to cell surface (GO:0034394)3.71659996
36craniofacial suture morphogenesis (GO:0097094)3.70723836
37extracellular matrix assembly (GO:0085029)3.69753164
38metanephric mesenchyme development (GO:0072075)3.68345954
39basement membrane organization (GO:0071711)3.65304588
40positive regulation of fibroblast migration (GO:0010763)3.64906296
41endocardial cushion development (GO:0003197)3.61702504
42chondrocyte development (GO:0002063)3.55787110
43extracellular regulation of signal transduction (GO:1900115)3.54905519
44extracellular negative regulation of signal transduction (GO:1900116)3.54905519
45dermatan sulfate metabolic process (GO:0030205)3.53601781
46protein hydroxylation (GO:0018126)3.53311415
47positive regulation of blood vessel endothelial cell migration (GO:0043536)3.51441602
48kidney mesenchyme development (GO:0072074)3.46721530
49negative regulation of chondrocyte differentiation (GO:0032331)3.45232081
50vascular endothelial growth factor signaling pathway (GO:0038084)3.44541957
51paraxial mesoderm development (GO:0048339)3.37445349
52regulation of transforming growth factor beta2 production (GO:0032909)3.34951205
53negative regulation of axon extension involved in axon guidance (GO:0048843)3.31286594
54* extracellular matrix organization (GO:0030198)3.30240161
55hippo signaling (GO:0035329)3.30058216
56regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.29623254
57substrate-dependent cell migration (GO:0006929)3.28998348
58* extracellular structure organization (GO:0043062)3.28836145
59cellular response to interferon-alpha (GO:0035457)3.27858068
60cell migration involved in sprouting angiogenesis (GO:0002042)3.26361582
61retina vasculature morphogenesis in camera-type eye (GO:0061299)3.26242085
62planar cell polarity pathway involved in neural tube closure (GO:0090179)3.25833973
63negative regulation of focal adhesion assembly (GO:0051895)3.24469414
64negative regulation of cell junction assembly (GO:1901889)3.24469414
65negative regulation of adherens junction organization (GO:1903392)3.24469414
66tooth mineralization (GO:0034505)3.23468463
67regulation of axon extension involved in axon guidance (GO:0048841)3.22481183
68positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.21849634
69insulin-like growth factor receptor signaling pathway (GO:0048009)3.21487429
70Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.20218003
71stress fiber assembly (GO:0043149)3.18352833
72positive regulation of epithelial to mesenchymal transition (GO:0010718)3.17473146
73regulation of plasminogen activation (GO:0010755)3.14722767
74regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.12079049
75embryonic cranial skeleton morphogenesis (GO:0048701)3.11699338
76regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.10289665
77regulation of tight junction assembly (GO:2000810)3.08254055
78regulation of establishment of planar polarity (GO:0090175)3.07731120
79positive regulation of extracellular matrix organization (GO:1903055)3.06974411
80cochlea morphogenesis (GO:0090103)3.03265787
81epoxygenase P450 pathway (GO:0019373)3.03019423
82negative regulation of fibrinolysis (GO:0051918)3.01229104
83regulation of cardioblast differentiation (GO:0051890)3.01033633
84substrate adhesion-dependent cell spreading (GO:0034446)3.00434068
85glomerular basement membrane development (GO:0032836)2.98381063
86type B pancreatic cell proliferation (GO:0044342)2.97362916
87peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.97255407
88* cellular response to amino acid stimulus (GO:0071230)2.97232064
89keratan sulfate catabolic process (GO:0042340)2.95395011
90protein retention in ER lumen (GO:0006621)2.94396663
91G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.93446091
92positive regulation of osteoblast proliferation (GO:0033690)2.92320639
93negative regulation of smooth muscle cell migration (GO:0014912)2.91862508
94COPI coating of Golgi vesicle (GO:0048205)2.91362812
95Golgi transport vesicle coating (GO:0048200)2.91362812
96negative regulation of BMP signaling pathway (GO:0030514)2.90785777
97non-canonical Wnt signaling pathway (GO:0035567)2.87457519
98regulation of axon guidance (GO:1902667)2.86397075
99muscle cell migration (GO:0014812)2.85456301
100dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.83864956
101response to fluid shear stress (GO:0034405)2.83277263
102negative regulation of cartilage development (GO:0061037)2.82806649
103negative chemotaxis (GO:0050919)2.80851939
104cranial suture morphogenesis (GO:0060363)2.80473528
105* negative regulation of embryonic development (GO:0045992)2.80443280
106outer ear morphogenesis (GO:0042473)2.79968917
107heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.79244305
108regulation of chondrocyte differentiation (GO:0032330)2.79235405
109venous blood vessel morphogenesis (GO:0048845)2.78525532
110cell-substrate junction assembly (GO:0007044)2.76623504
111smooth muscle tissue development (GO:0048745)2.76241727
112maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.75650713
113regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.75418549
114replacement ossification (GO:0036075)2.74363375
115endochondral ossification (GO:0001958)2.74363375
116adherens junction assembly (GO:0034333)2.73999622
117negative regulation of axon guidance (GO:1902668)2.73919262
118endothelial cell morphogenesis (GO:0001886)2.71805031
119regulation of cartilage development (GO:0061035)2.71731214
120wound healing (GO:0042060)2.71699145
121trabecula formation (GO:0060343)2.70247625
122negative regulation of catenin import into nucleus (GO:0035414)2.69927097
123positive regulation of mesenchymal cell proliferation (GO:0002053)2.69567030
124regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.69322796
125cell-matrix adhesion (GO:0007160)2.69232902
126axon extension (GO:0048675)2.68014430
127polarized epithelial cell differentiation (GO:0030859)2.66394876
128pericardium development (GO:0060039)2.64507732
129blood vessel maturation (GO:0001955)2.62870038
130convergent extension (GO:0060026)2.60186208
131positive regulation of cartilage development (GO:0061036)2.59967064
132establishment of planar polarity (GO:0001736)2.57175250
133establishment of tissue polarity (GO:0007164)2.57175250

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.20790442
2RARG_19884340_ChIP-ChIP_MEFs_Mouse5.15897461
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.00954641
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.10275895
5RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.33341119
6CLOCK_20551151_ChIP-Seq_293T_Human3.28611509
7WT1_19549856_ChIP-ChIP_CCG9911_Human3.14562593
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.06291262
9TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.97824759
10* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.81522445
11CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.72939501
12* CJUN_26792858_Chip-Seq_BT549_Human2.67781746
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.58876994
14BRD4_25478319_ChIP-Seq_HGPS_Human2.51781488
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.40940841
16WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.21986126
17NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.16893619
18NRF2_20460467_ChIP-Seq_MEFs_Mouse2.16893619
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.16840936
20SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.11797765
21HIF1A_21447827_ChIP-Seq_MCF-7_Human2.10283770
22* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.10189414
23* EP300_21415370_ChIP-Seq_HL-1_Mouse2.06825944
24SMAD_19615063_ChIP-ChIP_OVARY_Human1.91883810
25SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.89516499
26SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.89516499
27HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.88644603
28TP53_16413492_ChIP-PET_HCT116_Human1.86088315
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.85290465
30FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.80777111
31ESR1_15608294_ChIP-ChIP_MCF-7_Human1.76898394
32EZH2_27304074_Chip-Seq_ESCs_Mouse1.75743079
33P300_27058665_Chip-Seq_ZR-75-30cells_Human1.75589631
34ELK3_25401928_ChIP-Seq_HUVEC_Human1.73790825
35CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.73251280
36TP53_18474530_ChIP-ChIP_U2OS_Human1.68496011
37RBPJ_22232070_ChIP-Seq_NCS_Mouse1.66782922
38CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.59673102
39SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.58562252
40TP53_20018659_ChIP-ChIP_R1E_Mouse1.58294905
41* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.58266743
42CDX2_19796622_ChIP-Seq_MESCs_Mouse1.56095488
43JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.54032425
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52275990
45JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.50773000
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.49617723
47NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.48027360
48RNF2_27304074_Chip-Seq_ESCs_Mouse1.47842017
49ATF3_27146783_Chip-Seq_COLON_Human1.47630915
50JARID2_20075857_ChIP-Seq_MESCs_Mouse1.46279041
51JARID2_20064375_ChIP-Seq_MESCs_Mouse1.45251929
52TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44110429
53TP53_22127205_ChIP-Seq_IMR90_Human1.43948676
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.41261299
55ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.40538126
56FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.39250041
57TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.38747605
58MTF2_20144788_ChIP-Seq_MESCs_Mouse1.37472900
59* TP53_23651856_ChIP-Seq_MEFs_Mouse1.37213930
60ESR2_21235772_ChIP-Seq_MCF-7_Human1.36883419
61SALL4_18804426_ChIP-ChIP_XEN_Mouse1.34854167
62SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.34767410
63EED_16625203_ChIP-ChIP_MESCs_Mouse1.34493588
64FOXO3_23340844_ChIP-Seq_DLD1_Human1.33781553
65MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.33374055
66SOX2_20726797_ChIP-Seq_SW620_Human1.32315814
67SOX9_24532713_ChIP-Seq_HFSC_Mouse1.31710176
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.29916243
69RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.25890385
70* PIAS1_25552417_ChIP-Seq_VCAP_Human1.25594841
71GBX2_23144817_ChIP-Seq_PC3_Human1.24575815
72KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.24575407
73EZH2_18974828_ChIP-Seq_MESCs_Mouse1.23068684
74RNF2_18974828_ChIP-Seq_MESCs_Mouse1.23068684
75NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.21483731
76UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.20666164
77TBX20_22328084_ChIP-Seq_HEART_Mouse1.19642949
78TBX20_22080862_ChIP-Seq_HEART_Mouse1.19642949
79ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.18183776
80TBX3_20139965_ChIP-Seq_MESCs_Mouse1.13966280
81TBX3_20139965_ChIP-Seq_ESCs_Mouse1.13635871
82DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.12596579
83PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.10413273
84RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10312123
85* SMAD3_21741376_ChIP-Seq_HESCs_Human1.10245003
86WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10081341
87* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.10003231
88RING1B_27294783_Chip-Seq_ESCs_Mouse1.09987607
89ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08470389
90* SA1_22415368_ChIP-Seq_MEFs_Mouse1.08380274
91RING1B_27294783_Chip-Seq_NPCs_Mouse1.07622505
92POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.07430295
93* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06954427
94SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.06569637
95YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06314753
96ISL1_27105846_Chip-Seq_CPCs_Mouse1.06123220
97NFI_21473784_ChIP-Seq_ESCs_Mouse1.05539869
98CTNNB1_20460455_ChIP-Seq_HCT116_Human1.05101505
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03833526
100ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.03356899
101NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02604837
102ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.02534574
103FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.02467817
104CBX2_27304074_Chip-Seq_ESCs_Mouse1.01893375
105KDM2B_26808549_Chip-Seq_SUP-B15_Human1.01257155
106SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.00857289
107ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.00451269
108SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.00109956
109HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.98137591
110SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.97989589
111ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97467511
112KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.97029094
113KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.97029094
114KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.97029094
115RACK7_27058665_Chip-Seq_MCF-7_Human0.96523822
116KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95992953
117TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95198129
118PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.94844119
119ELK1_22589737_ChIP-Seq_MCF10A_Human0.93188713
120TCF4_18268006_ChIP-ChIP_LS174T_Human0.92867960
121STAT6_21828071_ChIP-Seq_BEAS2B_Human0.92585010
122P63_26484246_Chip-Seq_KERATINOCYTES_Human0.92568516
123SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.92558847
124KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.92552508
125ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.92118264
126GATA2_21666600_ChIP-Seq_HMVEC_Human0.91703002
127SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.90853829
128TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90618803
129KLF5_25053715_ChIP-Seq_YYC3_Human0.89665391
130* SMAD4_21741376_ChIP-Seq_HESCs_Human0.89295100
131PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.88594200

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen8.80236638
2MP0005503_abnormal_tendon_morphology5.33676000
3* MP0005275_abnormal_skin_tensile5.22076371
4MP0003705_abnormal_hypodermis_morpholog4.37890836
5MP0003279_aneurysm4.00543301
6MP0001958_emphysema3.23044529
7MP0005623_abnormal_meninges_morphology2.91340260
8MP0004272_abnormal_basement_membrane2.77907611
9MP0010352_gastrointestinal_tract_polyps2.71071960
10MP0009384_cardiac_valve_regurgitation2.64215080
11MP0006054_spinal_hemorrhage2.63369693
12MP0005257_abnormal_intraocular_pressure2.46658041
13MP0005508_abnormal_skeleton_morphology2.17633641
14MP0003566_abnormal_cell_adhesion2.15616870
15* MP0002060_abnormal_skin_morphology2.04104031
16MP0001542_abnormal_bone_strength2.00293469
17MP0005023_abnormal_wound_healing1.99563132
18MP0002295_abnormal_pulmonary_circulatio1.89740681
19MP0003091_abnormal_cell_migration1.82892016
20MP0009250_abnormal_appendicular_skeleto1.77503739
21MP0010030_abnormal_orbit_morphology1.75939510
22MP0002896_abnormal_bone_mineralization1.70905752
23MP0002108_abnormal_muscle_morphology1.70507673
24MP0003385_abnormal_body_wall1.68119868
25MP0000013_abnormal_adipose_tissue1.61569963
26MP0003283_abnormal_digestive_organ1.56786811
27MP0001348_abnormal_lacrimal_gland1.55983437
28* MP0001243_abnormal_dermal_layer1.55743379
29MP0001299_abnormal_eye_distance/1.53163005
30MP0009053_abnormal_anal_canal1.51234960
31MP0000733_abnormal_muscle_development1.47235864
32MP0001879_abnormal_lymphatic_vessel1.40314390
33MP0000767_abnormal_smooth_muscle1.33646337
34MP0004134_abnormal_chest_morphology1.31755525
35MP0003045_fibrosis1.29692427
36MP0002282_abnormal_trachea_morphology1.28659116
37MP0005390_skeleton_phenotype1.25376966
38MP0002877_abnormal_melanocyte_morpholog1.20420870
39MP0002115_abnormal_skeleton_extremities1.20352660
40MP0004858_abnormal_nervous_system1.17395818
41MP0002932_abnormal_joint_morphology1.17252884
42MP0000428_abnormal_craniofacial_morphol1.16217416
43MP0002168_other_aberrant_phenotype1.15597403
44MP0000163_abnormal_cartilage_morphology1.12297060
45MP0000751_myopathy1.09993307
46MP0003950_abnormal_plasma_membrane1.07580887
47MP0003942_abnormal_urinary_system1.04111088
48MP0005171_absent_coat_pigmentation1.03225146
49MP0000750_abnormal_muscle_regeneration1.02787026
50MP0002998_abnormal_bone_remodeling1.02054279
51MP0002933_joint_inflammation1.01523860
52MP0003115_abnormal_respiratory_system1.00116122
53* MP0002113_abnormal_skeleton_development0.98846751
54MP0003755_abnormal_palate_morphology0.98200060
55MP0003300_gastrointestinal_ulcer0.97383093
56MP0005076_abnormal_cell_differentiation0.97108264
57MP0000534_abnormal_ureter_morphology0.96278492
58MP0008004_abnormal_stomach_pH0.93183932
59MP0000003_abnormal_adipose_tissue0.90145956
60MP0001849_ear_inflammation0.88266109
61MP0003937_abnormal_limbs/digits/tail_de0.85845093
62MP0000432_abnormal_head_morphology0.85078648
63MP0003935_abnormal_craniofacial_develop0.83354387
64MP0002128_abnormal_blood_circulation0.80735199
65MP0002109_abnormal_limb_morphology0.79971193
66MP0003795_abnormal_bone_structure0.79227833
67MP0002089_abnormal_postnatal_growth/wei0.78473965
68MP0010368_abnormal_lymphatic_system0.77952387
69MP0001614_abnormal_blood_vessel0.76740072
70MP0003941_abnormal_skin_development0.75670866
71MP0002233_abnormal_nose_morphology0.74981146
72MP0002116_abnormal_craniofacial_bone0.74506430
73MP0001533_abnormal_skeleton_physiology0.74252387
74MP0000537_abnormal_urethra_morphology0.73263393
75MP0002111_abnormal_tail_morphology0.73256047
76MP0001915_intracranial_hemorrhage0.71957994
77MP0009780_abnormal_chondrocyte_physiolo0.71066380
78* MP0005193_abnormal_anterior_eye0.70410967
79MP0000049_abnormal_middle_ear0.69620046
80MP0004084_abnormal_cardiac_muscle0.66545149
81MP0002697_abnormal_eye_size0.65931809
82MP0005197_abnormal_uvea_morphology0.65601420
83MP0005595_abnormal_vascular_smooth0.65312163
84MP0010386_abnormal_urinary_bladder0.65205050
85MP0000759_abnormal_skeletal_muscle0.64932432
86MP0005164_abnormal_response_to0.64219531
87MP0004087_abnormal_muscle_fiber0.63771932
88MP0002925_abnormal_cardiovascular_devel0.63657241
89MP0005369_muscle_phenotype0.62424201
90MP0001177_atelectasis0.62411232
91MP0000762_abnormal_tongue_morphology0.62386784
92MP0002133_abnormal_respiratory_system0.61899782
93MP0005388_respiratory_system_phenotype0.61899782
94MP0001175_abnormal_lung_morphology0.61827857
95MP0002177_abnormal_outer_ear0.60984293
96MP0005375_adipose_tissue_phenotype0.60600105
97MP0005409_darkened_coat_color0.60506961
98MP0003448_altered_tumor_morphology0.60288086
99* MP0002114_abnormal_axial_skeleton0.60061854
100MP0002092_abnormal_eye_morphology0.60022586
101MP0002249_abnormal_larynx_morphology0.58819085
102MP0004185_abnormal_adipocyte_glucose0.58445286
103MP0000467_abnormal_esophagus_morphology0.58167134
104MP0000516_abnormal_urinary_system0.57119021
105MP0005367_renal/urinary_system_phenotyp0.57119021
106MP0003119_abnormal_digestive_system0.56937570
107MP0000538_abnormal_urinary_bladder0.55858118
108MP0000462_abnormal_digestive_system0.54864927
109MP0000749_muscle_degeneration0.54136443
110MP0006138_congestive_heart_failure0.53689336
111* MP0010771_integument_phenotype0.52147519
112MP0000266_abnormal_heart_morphology0.49418971
113MP0004133_heterotaxia0.48501149

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.19897545
2* Premature rupture of membranes (HP:0001788)8.28271798
3Shallow orbits (HP:0000586)5.21793891
4Ankle contracture (HP:0006466)5.18954714
5* Aortic dissection (HP:0002647)5.02813109
6Abnormality of dentin (HP:0010299)4.69870300
7* Atrophic scars (HP:0001075)4.55608066
8* Soft skin (HP:0000977)4.43160805
9Broad metatarsal (HP:0001783)4.23268815
10* Peritonitis (HP:0002586)4.17938843
11Cerebral aneurysm (HP:0004944)4.14885218
12Neonatal short-limb short stature (HP:0008921)4.09598788
13Cervical subluxation (HP:0003308)4.04661129
14Aortic aneurysm (HP:0004942)3.97748995
15* Dilatation of the ascending aorta (HP:0005111)3.91330445
16Biconcave vertebral bodies (HP:0004586)3.78525882
17* Fragile skin (HP:0001030)3.76700289
18* Bladder diverticulum (HP:0000015)3.75446744
19Wormian bones (HP:0002645)3.67269569
20Follicular hyperkeratosis (HP:0007502)3.66197853
21Type 1 muscle fiber predominance (HP:0003803)3.62047927
22* Genu recurvatum (HP:0002816)3.61057158
23* Mitral valve prolapse (HP:0001634)3.52469852
24* Blue sclerae (HP:0000592)3.38495177
25Wrist flexion contracture (HP:0001239)3.32953381
26Vertebral compression fractures (HP:0002953)3.22846169
27Spinal rigidity (HP:0003306)3.21291547
28Increased connective tissue (HP:0009025)3.01666338
29Slender build (HP:0001533)2.84266219
30Calcaneovalgus deformity (HP:0001848)2.79268888
31Abnormality of the acetabulum (HP:0003170)2.71614109
32* Hyperextensible skin (HP:0000974)2.67894553
33Tibial bowing (HP:0002982)2.67400485
34Deformed tarsal bones (HP:0008119)2.65037862
35Elbow flexion contracture (HP:0002987)2.64904448
36Osteolytic defects of the hand bones (HP:0009699)2.64872696
37Osteolytic defects of the phalanges of the hand (HP:0009771)2.64872696
38* Bowel diverticulosis (HP:0005222)2.63366671
39Overgrowth (HP:0001548)2.61256526
40* Abnormal delivery (HP:0001787)2.60845910
41Vascular tortuosity (HP:0004948)2.60386993
42Thin bony cortex (HP:0002753)2.56752648
43Mesomelia (HP:0003027)2.55956650
44Ulnar bowing (HP:0003031)2.54342956
45Mildly elevated creatine phosphokinase (HP:0008180)2.53846100
46Breech presentation (HP:0001623)2.52842758
47Increased variability in muscle fiber diameter (HP:0003557)2.51957494
48Joint laxity (HP:0001388)2.51671626
49Wide anterior fontanel (HP:0000260)2.49141445
50Spondylolisthesis (HP:0003302)2.46832036
51Camptodactyly of toe (HP:0001836)2.46786494
52Nonimmune hydrops fetalis (HP:0001790)2.45325259
53Broad ribs (HP:0000885)2.45306075
54Radial bowing (HP:0002986)2.40189871
55Aneurysm (HP:0002617)2.38630090
56Mitral regurgitation (HP:0001653)2.37241455
57Short nail (HP:0001799)2.34773902
58Round ear (HP:0100830)2.34671321
59Femoral bowing (HP:0002980)2.32125739
60Aortic regurgitation (HP:0001659)2.30547369
61Buphthalmos (HP:0000557)2.28548100
62* Ectopia lentis (HP:0001083)2.23536741
63Bell-shaped thorax (HP:0001591)2.23130499
64Arterial tortuosity (HP:0005116)2.21708091
65* Deviation of the hallux (HP:0010051)2.20721281
66Abnormality of the calcaneus (HP:0008364)2.19663699
67Hypoplasia of the iris (HP:0007676)2.19109309
68Broad long bones (HP:0005622)2.19085462
69Abnormality of skeletal muscle fiber size (HP:0012084)2.18681386
70Mild short stature (HP:0003502)2.17981936
71Increased density of long bones (HP:0006392)2.16285034
72Bowed forearm bones (HP:0003956)2.16008247
73Bowing of the arm (HP:0006488)2.16008247
74Flat cornea (HP:0007720)2.14457910
75* Infantile muscular hypotonia (HP:0008947)2.11884202
76* Hallux valgus (HP:0001822)2.11122092
77Morphological abnormality of the middle ear (HP:0008609)2.07213554
78Mitral stenosis (HP:0001718)2.06748082
79Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.06487581
80Short 4th metacarpal (HP:0010044)2.06487581
81Syringomyelia (HP:0003396)2.05457136
82Spinal cord lesions (HP:0100561)2.05457136
83Aortic valve stenosis (HP:0001650)2.03263602
84* Osteoarthritis (HP:0002758)2.03155056
85Striae distensae (HP:0001065)2.02031693
86Knee flexion contracture (HP:0006380)2.01155506
87* Inguinal hernia (HP:0000023)2.00784850
88Cupped ribs (HP:0000887)1.98179566
89Spinal cord compression (HP:0002176)1.97769062
90Decreased skull ossification (HP:0004331)1.97656824
91Congenital glaucoma (HP:0001087)1.96113083
92Renal duplication (HP:0000075)1.95852331
93Coronal craniosynostosis (HP:0004440)1.95523179
94Platyspondyly (HP:0000926)1.91712900
95Joint contractures involving the joints of the feet (HP:0100492)1.90929509
96Flexion contracture of toe (HP:0005830)1.90929509
97Coxa vara (HP:0002812)1.90095783
98Abnormality of the ischium (HP:0003174)1.87161153
99Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.86754747
100Limited hip movement (HP:0008800)1.84941923
101Scapular winging (HP:0003691)1.84430045
102Renovascular hypertension (HP:0100817)1.83977319
103Absent frontal sinuses (HP:0002688)1.82736550
104Hypoventilation (HP:0002791)1.81944555
105Abnormality of skull ossification (HP:0002703)1.81479203
106Thin ribs (HP:0000883)1.81387633
107Distal upper limb amyotrophy (HP:0007149)1.81236685
108Upper limb amyotrophy (HP:0009129)1.81236685
109Increased corneal curvature (HP:0100692)1.80801001
110Keratoconus (HP:0000563)1.80801001
111Difficulty climbing stairs (HP:0003551)1.80676861
112Disproportionate tall stature (HP:0001519)1.78333846
113Tarsal synostosis (HP:0008368)1.77633171
114Alopecia of scalp (HP:0002293)1.76882711
115Abnormality of the 4th metacarpal (HP:0010012)1.74898181
116* Abnormality of the peritoneum (HP:0002585)1.73964685
117Osteopenia (HP:0000938)1.73002660
118Abnormality of the anterior chamber (HP:0000593)1.72845319
119Delayed cranial suture closure (HP:0000270)1.71890523
120Hypoplastic ischia (HP:0003175)1.70957277
121Protruding ear (HP:0000411)1.70594119
122Vitreoretinal degeneration (HP:0000655)1.70560466
123Joint stiffness (HP:0001387)1.66300408
124Arachnodactyly (HP:0001166)1.63177916

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.59425381
2TTN5.29132387
3TRIB34.02471660
4PDGFRA3.90375136
5LATS13.09286210
6PKN22.98669888
7LATS22.80552920
8SIK12.47144732
9PAK22.19280219
10EPHB22.05663230
11TRPM72.01715973
12RIPK12.01304538
13ERN11.97519135
14PAK31.84890885
15PTK21.75976551
16BMX1.71702083
17EPHA31.71425243
18FER1.69395014
19FRK1.44029788
20TIE11.42472479
21EPHA21.40092692
22PAK41.39876066
23STK31.39600208
24PDGFRB1.37180375
25FGFR11.37014803
26PTK61.33766281
27TGFBR21.32962093
28PIK3CA1.32868854
29LRRK21.32545616
30MOS1.24008193
31DMPK1.17760191
32STK381.16681015
33MET1.14422716
34EEF2K1.11084967
35MTOR1.10163999
36TESK11.10132843
37FGFR21.08430853
38RPS6KA41.06815729
39NEK91.06814839
40ROCK11.06633760
41LIMK11.03813074
42PTK2B1.00567651
43AKT31.00491039
44PIK3CG0.97016588
45PLK20.95948389
46NTRK10.93460034
47ILK0.92352923
48SCYL20.90885937
49MAP3K100.90535144
50FLT30.86726924
51CDK120.81999613
52TNIK0.79462700
53WNK10.79047864
54PNCK0.77878277
55PRKD20.76381836
56MYLK0.76307739
57INSR0.76101943
58ROCK20.75327877
59MAPK70.75011519
60MAP3K60.74996395
61RPS6KA20.74951685
62JAK10.72995881
63MAP2K10.72552097
64PRKCH0.71866830
65ERBB30.69158716
66LMTK20.68340580
67MARK10.67799062
68RET0.67494375
69PIM20.65390332
70STK38L0.64726956
71MUSK0.62428455
72ABL20.62081251
73PRKD10.57181294
74CDK60.57111318
75CLK10.56880514
76MELK0.55911129
77PAK10.54604189
78PRKD30.53340337
79TGFBR10.53144884
80EPHB10.51974288
81CAMK1D0.51484609
82GSK3A0.51101448
83NME20.48229027
84FGFR40.47679557
85CDC42BPA0.46097600
86KIT0.45555222
87FGFR30.44468519
88PAK60.43596122
89SRC0.42898621
90NUAK10.42780669
91MAP3K80.42299604
92ADRBK10.42011967
93KSR10.41493112
94ERBB40.40342586
95CAMKK10.39494411
96MAP3K30.39450698
97BRD40.38643934
98DAPK30.38412835
99ICK0.37999356
100NEK20.36736883
101CDK90.33986393
102MAPKAPK50.33169475
103CDK150.33022662
104STK100.32887521
105PRKG20.32486249
106RPS6KL10.32371972
107RPS6KC10.32371972
108CAMK2G0.31496144
109CDK140.30565462
110IGF1R0.28985759
111DYRK1B0.28256456
112CDK180.27957990
113MAP3K70.27769491
114PRKCE0.26762379
115PDK20.26478248
116CDK11A0.24868780
117MAPK10.23807083
118ABL10.22771501
119PLK30.21605218
120MAP2K30.21513419
121PDK30.21287192
122PDK40.21287192
123CAMK1G0.20083883
124FYN0.20076986
125TYRO30.19754119

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.32119962
2Focal adhesion_Homo sapiens_hsa045103.64461301
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.80111885
4* Protein digestion and absorption_Homo sapiens_hsa049742.79636097
5Proteoglycans in cancer_Homo sapiens_hsa052052.60987497
6Amoebiasis_Homo sapiens_hsa051462.58495237
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.35391320
8Malaria_Homo sapiens_hsa051442.34674509
9Bladder cancer_Homo sapiens_hsa052192.31135902
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.22466362
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.17098903
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.16955037
13Small cell lung cancer_Homo sapiens_hsa052222.14148313
14Adherens junction_Homo sapiens_hsa045202.12748795
15Dilated cardiomyopathy_Homo sapiens_hsa054142.10149877
16TGF-beta signaling pathway_Homo sapiens_hsa043502.08304646
17MicroRNAs in cancer_Homo sapiens_hsa052062.01667550
18PI3K-Akt signaling pathway_Homo sapiens_hsa041511.85055371
19Hippo signaling pathway_Homo sapiens_hsa043901.80938866
20Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.68860004
21Chronic myeloid leukemia_Homo sapiens_hsa052201.58090860
22Basal cell carcinoma_Homo sapiens_hsa052171.55918397
23p53 signaling pathway_Homo sapiens_hsa041151.52323736
24Regulation of actin cytoskeleton_Homo sapiens_hsa048101.50562900
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.48481463
26Melanoma_Homo sapiens_hsa052181.45058465
27Leukocyte transendothelial migration_Homo sapiens_hsa046701.28716148
28Hedgehog signaling pathway_Homo sapiens_hsa043401.28108488
29Platelet activation_Homo sapiens_hsa046111.26059467
30Shigellosis_Homo sapiens_hsa051311.25552865
31Glioma_Homo sapiens_hsa052141.16472454
32Pancreatic cancer_Homo sapiens_hsa052121.09162723
33Pathways in cancer_Homo sapiens_hsa052001.06957127
34Phagosome_Homo sapiens_hsa041451.06595725
35Prostate cancer_Homo sapiens_hsa052151.06444390
36Tight junction_Homo sapiens_hsa045301.05762953
37Rap1 signaling pathway_Homo sapiens_hsa040151.05688465
38Viral myocarditis_Homo sapiens_hsa054161.05250905
39Axon guidance_Homo sapiens_hsa043601.04100100
40TNF signaling pathway_Homo sapiens_hsa046681.02287722
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.02208020
42Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.01974288
43Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98453777
44Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.95726019
45Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94360200
46Central carbon metabolism in cancer_Homo sapiens_hsa052300.92493267
47HTLV-I infection_Homo sapiens_hsa051660.92394394
48Wnt signaling pathway_Homo sapiens_hsa043100.91776403
49Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90168053
50Toxoplasmosis_Homo sapiens_hsa051450.89982677
51Salmonella infection_Homo sapiens_hsa051320.84259664
52HIF-1 signaling pathway_Homo sapiens_hsa040660.75518352
53Viral carcinogenesis_Homo sapiens_hsa052030.75273687
54mTOR signaling pathway_Homo sapiens_hsa041500.72851744
55Gap junction_Homo sapiens_hsa045400.70397673
56Renal cell carcinoma_Homo sapiens_hsa052110.70396324
57Melanogenesis_Homo sapiens_hsa049160.70127225
58Ovarian steroidogenesis_Homo sapiens_hsa049130.69078169
59Colorectal cancer_Homo sapiens_hsa052100.68987963
60Thyroid cancer_Homo sapiens_hsa052160.68232438
61Estrogen signaling pathway_Homo sapiens_hsa049150.65464800
62N-Glycan biosynthesis_Homo sapiens_hsa005100.65275623
63Dorso-ventral axis formation_Homo sapiens_hsa043200.63469615
64Hepatitis B_Homo sapiens_hsa051610.62397982
65Apoptosis_Homo sapiens_hsa042100.59667946
66Thyroid hormone synthesis_Homo sapiens_hsa049180.57661144
67Renin secretion_Homo sapiens_hsa049240.57652771
68VEGF signaling pathway_Homo sapiens_hsa043700.57142177
69Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.57134496
70Renin-angiotensin system_Homo sapiens_hsa046140.54236321
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.54120170
72FoxO signaling pathway_Homo sapiens_hsa040680.53682089
73Ras signaling pathway_Homo sapiens_hsa040140.52879430
74GnRH signaling pathway_Homo sapiens_hsa049120.52772224
75Endometrial cancer_Homo sapiens_hsa052130.52736837
76Leishmaniasis_Homo sapiens_hsa051400.52661934
77Cocaine addiction_Homo sapiens_hsa050300.52485175
78Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.51175684
79Endocytosis_Homo sapiens_hsa041440.50939233
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.50210408
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.49794365
82Sulfur metabolism_Homo sapiens_hsa009200.49749249
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.49590544
84cAMP signaling pathway_Homo sapiens_hsa040240.47892864
85Glycosaminoglycan degradation_Homo sapiens_hsa005310.47727529
86Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47283321
87Vibrio cholerae infection_Homo sapiens_hsa051100.46367442
88Choline metabolism in cancer_Homo sapiens_hsa052310.45470765
89Notch signaling pathway_Homo sapiens_hsa043300.45310734
90Insulin resistance_Homo sapiens_hsa049310.44993377
91AMPK signaling pathway_Homo sapiens_hsa041520.42808307
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42265323
93Prolactin signaling pathway_Homo sapiens_hsa049170.41470810
94Cell cycle_Homo sapiens_hsa041100.39846175
95Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.39618624
96Non-small cell lung cancer_Homo sapiens_hsa052230.39484739
97Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39172520
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39041446
99ErbB signaling pathway_Homo sapiens_hsa040120.38747483
100MAPK signaling pathway_Homo sapiens_hsa040100.38673847
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38412288
102Adipocytokine signaling pathway_Homo sapiens_hsa049200.37851382
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.36866899
104Prion diseases_Homo sapiens_hsa050200.35497012
105Cholinergic synapse_Homo sapiens_hsa047250.34845257
106cGMP-PKG signaling pathway_Homo sapiens_hsa040220.34399888
107Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33755016
108Osteoclast differentiation_Homo sapiens_hsa043800.33064001
109Pertussis_Homo sapiens_hsa051330.32687485
110Insulin signaling pathway_Homo sapiens_hsa049100.32208806
111Complement and coagulation cascades_Homo sapiens_hsa046100.31604772
112Other glycan degradation_Homo sapiens_hsa005110.30971233
113Calcium signaling pathway_Homo sapiens_hsa040200.30478739
114Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.29768448
115Lysosome_Homo sapiens_hsa041420.29380961
116One carbon pool by folate_Homo sapiens_hsa006700.29251406
117Lysine degradation_Homo sapiens_hsa003100.27309677
118Oxytocin signaling pathway_Homo sapiens_hsa049210.26039659

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »