PKD2

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 polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)4.91990815
2sequestering of extracellular ligand from receptor (GO:0035581)4.76664271
3protein heterotrimerization (GO:0070208)4.72114655
4chondrocyte proliferation (GO:0035988)4.66384037
5axon extension involved in axon guidance (GO:0048846)4.31631121
6neuron projection extension involved in neuron projection guidance (GO:1902284)4.31631121
7bone trabecula formation (GO:0060346)4.15818445
8retina vasculature morphogenesis in camera-type eye (GO:0061299)3.79720998
9glomerular basement membrane development (GO:0032836)3.74053797
10negative regulation of osteoblast proliferation (GO:0033689)3.68542989
11mesenchymal-epithelial cell signaling (GO:0060638)3.66834152
12endodermal cell differentiation (GO:0035987)3.62456108
13insulin-like growth factor receptor signaling pathway (GO:0048009)3.58794427
14collagen metabolic process (GO:0032963)3.44913361
15dermatan sulfate biosynthetic process (GO:0030208)3.44721544
16collagen catabolic process (GO:0030574)3.43242487
17vascular endothelial growth factor signaling pathway (GO:0038084)3.33028176
18blood vessel maturation (GO:0001955)3.31590953
19pericardium development (GO:0060039)3.30811964
20multicellular organismal macromolecule metabolic process (GO:0044259)3.30378311
21cell adhesion mediated by integrin (GO:0033627)3.29634398
22negative regulation of axon extension involved in axon guidance (GO:0048843)3.27940028
23outer ear morphogenesis (GO:0042473)3.27718344
24type B pancreatic cell proliferation (GO:0044342)3.20715749
25regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.20059199
26multicellular organismal catabolic process (GO:0044243)3.19923581
27heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.18102148
28multicellular organismal metabolic process (GO:0044236)3.15134658
29basement membrane organization (GO:0071711)3.09062313
30dermatan sulfate metabolic process (GO:0030205)3.08913059
31negative regulation of BMP signaling pathway (GO:0030514)3.08678506
32peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.06901798
33cellular response to vitamin (GO:0071295)3.05154735
34virion attachment to host cell (GO:0019062)3.04004562
35adhesion of symbiont to host cell (GO:0044650)3.04004562
36regulation of osteoblast proliferation (GO:0033688)3.02316524
37plasma membrane repair (GO:0001778)3.01025481
38wound healing, spreading of epidermal cells (GO:0035313)3.00541861
39regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.00509176
40negative regulation of chondrocyte differentiation (GO:0032331)3.00404939
41renal filtration (GO:0097205)3.00214641
42craniofacial suture morphogenesis (GO:0097094)2.99144584
43glomerular filtration (GO:0003094)2.98754165
44cellular response to vitamin D (GO:0071305)2.97726742
45negative regulation of smooth muscle cell migration (GO:0014912)2.95128037
46extracellular matrix disassembly (GO:0022617)2.94875847
47apoptotic cell clearance (GO:0043277)2.92589142
48hippo signaling (GO:0035329)2.90005341
49regulation of integrin-mediated signaling pathway (GO:2001044)2.89370959
50paraxial mesoderm development (GO:0048339)2.89065066
51planar cell polarity pathway involved in neural tube closure (GO:0090179)2.87212431
52extracellular negative regulation of signal transduction (GO:1900116)2.86928896
53extracellular regulation of signal transduction (GO:1900115)2.86928896
54* smooth muscle tissue development (GO:0048745)2.85864194
55positive regulation of protein autophosphorylation (GO:0031954)2.84430159
56negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.84175375
57regulation of transforming growth factor beta2 production (GO:0032909)2.83743510
58negative regulation of fatty acid transport (GO:2000192)2.81358321
59Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.79720674
60* metanephric mesenchyme development (GO:0072075)2.79199729
61cell migration involved in sprouting angiogenesis (GO:0002042)2.78939852
62camera-type eye morphogenesis (GO:0048593)2.77923811
63anterior/posterior axis specification, embryo (GO:0008595)2.77854538
64negative regulation of axon guidance (GO:1902668)2.77698243
65regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.77282906
66positive regulation of mesenchymal cell proliferation (GO:0002053)2.77020928
67endothelial cell morphogenesis (GO:0001886)2.76580600
68cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.76453877
69extracellular matrix assembly (GO:0085029)2.76151746
70regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.75074155
71polarized epithelial cell differentiation (GO:0030859)2.72038147
72positive regulation of fibroblast migration (GO:0010763)2.71870559
73ganglion development (GO:0061548)2.68683832
74* kidney mesenchyme development (GO:0072074)2.68503388
75regulation of mesenchymal cell proliferation (GO:0010464)2.68374804
76regulation of establishment of planar polarity (GO:0090175)2.67795380
77hemidesmosome assembly (GO:0031581)2.67525739
78chondrocyte development (GO:0002063)2.67158015
79protein localization to cell surface (GO:0034394)2.66676974
80nodal signaling pathway (GO:0038092)2.64375330
81mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.62338456
82keratan sulfate catabolic process (GO:0042340)2.61488377
83regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.61304970
84negative regulation of catenin import into nucleus (GO:0035414)2.61301754
85fibril organization (GO:0097435)2.60506779
86non-canonical Wnt signaling pathway (GO:0035567)2.57744837
87regulation of type B pancreatic cell apoptotic process (GO:2000674)2.57509493
88establishment of planar polarity (GO:0001736)2.57128297
89establishment of tissue polarity (GO:0007164)2.57128297
90positive regulation of catenin import into nucleus (GO:0035413)2.56924213
91embryonic skeletal joint morphogenesis (GO:0060272)2.56838881
92negative chemotaxis (GO:0050919)2.56372687
93chondroitin sulfate catabolic process (GO:0030207)2.55459445
94regulation of axon extension involved in axon guidance (GO:0048841)2.55233944
95heparan sulfate proteoglycan metabolic process (GO:0030201)2.52852885
96extracellular fibril organization (GO:0043206)2.52738854
97* metanephric nephron tubule development (GO:0072234)2.52624115
98* metanephric tubule development (GO:0072170)2.52624115
99regulation of extracellular matrix disassembly (GO:0010715)2.52025403
100endocardial cushion development (GO:0003197)2.51107107
101negative regulation of embryonic development (GO:0045992)2.50130496
102lymphangiogenesis (GO:0001946)2.49215318
103mesodermal cell differentiation (GO:0048333)2.49150630
104extracellular matrix organization (GO:0030198)2.48794994
105positive regulation of blood vessel endothelial cell migration (GO:0043536)2.48521299
106adhesion of symbiont to host (GO:0044406)2.47886991
107extracellular structure organization (GO:0043062)2.47753297
108regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.47179296
109negative regulation of cartilage development (GO:0061037)2.46806142
110lymph vessel development (GO:0001945)2.46117853
111skin morphogenesis (GO:0043589)2.44768087
112positive regulation of endothelial cell apoptotic process (GO:2000353)2.44254562
113glomerular visceral epithelial cell development (GO:0072015)2.43744812
114stress fiber assembly (GO:0043149)2.42925184
115cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.41958878
116substrate adhesion-dependent cell spreading (GO:0034446)2.41906415
117regulation of chondrocyte differentiation (GO:0032330)2.41055679
118regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.40895909
119embryonic cranial skeleton morphogenesis (GO:0048701)2.39934201
120branching involved in salivary gland morphogenesis (GO:0060445)2.39889682
121eye morphogenesis (GO:0048592)2.38628447
122regulation of axon guidance (GO:1902667)2.36683707
123face morphogenesis (GO:0060325)2.36417305
124regulation of gastrulation (GO:0010470)2.36322092
125substrate-dependent cell migration (GO:0006929)2.35374258
126regulation of heart morphogenesis (GO:2000826)2.34907029
127middle ear morphogenesis (GO:0042474)2.34628867
128myelination in peripheral nervous system (GO:0022011)2.34313615
129peripheral nervous system axon ensheathment (GO:0032292)2.34313615
130cell migration involved in heart development (GO:0060973)2.34186399
131epithelial cell-cell adhesion (GO:0090136)2.33834083
132* metanephric nephron epithelium development (GO:0072243)2.33653665
133G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.32824742
134cell proliferation involved in metanephros development (GO:0072203)2.31050380
135exocrine pancreas development (GO:0031017)2.31002903
136* metanephric epithelium development (GO:0072207)2.30879410
137regulation of cell fate specification (GO:0042659)2.29414720

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.18149342
2RARG_19884340_ChIP-ChIP_MEFs_Mouse2.66739896
3ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.51695257
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.22593233
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.16372252
6CDX2_19796622_ChIP-Seq_MESCs_Mouse2.11359242
7EED_16625203_ChIP-ChIP_MESCs_Mouse2.07494867
8EP300_21415370_ChIP-Seq_HL-1_Mouse2.05748481
9TP63_17297297_ChIP-ChIP_HaCaT_Human2.02915765
10GBX2_23144817_ChIP-Seq_PC3_Human2.02913351
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.00933498
12CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.98418820
13ZFP57_27257070_Chip-Seq_ESCs_Mouse1.96325836
14RNF2_18974828_ChIP-Seq_MESCs_Mouse1.94950873
15EZH2_18974828_ChIP-Seq_MESCs_Mouse1.94950873
16CJUN_26792858_Chip-Seq_BT549_Human1.94285031
17WT1_19549856_ChIP-ChIP_CCG9911_Human1.88657440
18CLOCK_20551151_ChIP-Seq_293T_Human1.86614674
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.82988312
20WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.81186720
21SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.80311092
22SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.79570574
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.78425155
24ZNF217_24962896_ChIP-Seq_MCF-7_Human1.75662114
25NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.75554451
26NRF2_20460467_ChIP-Seq_MEFs_Mouse1.75554451
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73608260
28TP53_18474530_ChIP-ChIP_U2OS_Human1.69627592
29SMAD_19615063_ChIP-ChIP_OVARY_Human1.69226010
30SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.68482201
31PIAS1_25552417_ChIP-Seq_VCAP_Human1.65686746
32TP53_16413492_ChIP-PET_HCT116_Human1.62448097
33FUS_26573619_Chip-Seq_HEK293_Human1.60910692
34* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60811391
35JARID2_20064375_ChIP-Seq_MESCs_Mouse1.60370337
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.57308545
37TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.56540686
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.55745671
39ESR1_21235772_ChIP-Seq_MCF-7_Human1.53682954
40JARID2_20075857_ChIP-Seq_MESCs_Mouse1.53529513
41RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.53224551
42SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53008052
43CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.51120103
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.48916513
45MTF2_20144788_ChIP-Seq_MESCs_Mouse1.48524069
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.46712401
47P300_19829295_ChIP-Seq_ESCs_Human1.46559272
48FLI1_27457419_Chip-Seq_LIVER_Mouse1.46350922
49FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.45098704
50DROSHA_22980978_ChIP-Seq_HELA_Human1.43972135
51BRD4_25478319_ChIP-Seq_HGPS_Human1.43893094
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43541940
53PCGF2_27294783_Chip-Seq_NPCs_Mouse1.41916880
54RNF2_27304074_Chip-Seq_ESCs_Mouse1.40791963
55HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.40274651
56PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.36533010
57PPAR_26484153_Chip-Seq_NCI-H1993_Human1.35588106
58* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.34508467
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30692704
60TBX3_20139965_ChIP-Seq_MESCs_Mouse1.30101592
61TBX3_20139965_ChIP-Seq_ESCs_Mouse1.30095035
62ESR2_21235772_ChIP-Seq_MCF-7_Human1.28695536
63BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28681689
64FOXM1_26456572_ChIP-Seq_MCF-7_Human1.28447823
65RBPJ_22232070_ChIP-Seq_NCS_Mouse1.27801536
66WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27257927
67AHR_22903824_ChIP-Seq_MCF-7_Human1.26972587
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.25514254
69ISL1_27105846_Chip-Seq_CPCs_Mouse1.24217454
70BCAT_22108803_ChIP-Seq_LS180_Human1.21537820
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.21354127
72* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.20975287
73SOX9_24532713_ChIP-Seq_HFSC_Mouse1.20641689
74EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.20445728
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20376559
76NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19995963
77SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19333302
78EWS_26573619_Chip-Seq_HEK293_Human1.19067505
79* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18530243
80SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.18475759
81* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18110763
82EZH2_27294783_Chip-Seq_NPCs_Mouse1.16956556
83GATA2_21666600_ChIP-Seq_HMVEC_Human1.16361096
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16174967
85TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.15598582
86YAP1_20516196_ChIP-Seq_MESCs_Mouse1.15472187
87SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15393621
88TP53_20018659_ChIP-ChIP_R1E_Mouse1.15191216
89NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.13223503
90STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.12476188
91STAT3_23295773_ChIP-Seq_U87_Human1.11964090
92EZH2_27294783_Chip-Seq_ESCs_Mouse1.11800445
93SMAD3_21741376_ChIP-Seq_HESCs_Human1.09812998
94AR_21572438_ChIP-Seq_LNCaP_Human1.09696420
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.09621948
96TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.09492740
97ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.09407258
98KDM2B_26808549_Chip-Seq_REH_Human1.07867110
99CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.07853904
100RXR_22108803_ChIP-Seq_LS180_Human1.07736863
101PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.07713978
102ESR1_20079471_ChIP-ChIP_T-47D_Human1.07664382
103DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.07474385
104TCF4_18268006_ChIP-ChIP_LS174T_Human1.06953429
105TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06770246
106SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06051678
107SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.05948791
108KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.04252684
109RING1B_27294783_Chip-Seq_NPCs_Mouse1.03916024
110NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03132798
111TP63_23658742_ChIP-Seq_EP156T_Human1.02490374
112MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.02003708
113TBX20_22328084_ChIP-Seq_HEART_Mouse1.01751109
114TBX20_22080862_ChIP-Seq_HEART_Mouse1.01751109
115TAF15_26573619_Chip-Seq_HEK293_Human1.01130785
116CTBP2_25329375_ChIP-Seq_LNCAP_Human1.00500749
117SMAD4_21799915_ChIP-Seq_A2780_Human1.00210753
118EZH2_22144423_ChIP-Seq_EOC_Human0.99240889
119RING1B_27294783_Chip-Seq_ESCs_Mouse0.99139952
120P53_22387025_ChIP-Seq_ESCs_Mouse0.98359525
121FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.98157976
122FOXO3_23340844_ChIP-Seq_DLD1_Human0.98064988
123NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97806160
124SOX2_20726797_ChIP-Seq_SW620_Human0.96301729
125SMAD4_21741376_ChIP-Seq_HESCs_Human0.96185900
126CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95830454
127ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.95710237
128SUZ12_27294783_Chip-Seq_ESCs_Mouse0.94815764
129OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92477765
130SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.91238894
131SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.91238894
132TOP2B_26459242_ChIP-Seq_MCF-7_Human0.90794948
133* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.90176151
134SMAD3_21741376_ChIP-Seq_EPCs_Human0.88811191

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.72346428
2MP0005503_abnormal_tendon_morphology5.38070281
3MP0005275_abnormal_skin_tensile4.87637925
4MP0004272_abnormal_basement_membrane3.40864454
5MP0001958_emphysema3.34598209
6MP0003705_abnormal_hypodermis_morpholog3.25507131
7MP0003279_aneurysm2.90334687
8MP0005623_abnormal_meninges_morphology2.54591365
9MP0009384_cardiac_valve_regurgitation2.11160804
10MP0002108_abnormal_muscle_morphology2.05883321
11MP0003950_abnormal_plasma_membrane2.03689780
12MP0005257_abnormal_intraocular_pressure1.97930480
13MP0010030_abnormal_orbit_morphology1.94784071
14MP0005508_abnormal_skeleton_morphology1.94633192
15MP0003385_abnormal_body_wall1.84102829
16MP0000534_abnormal_ureter_morphology1.73221997
17MP0002896_abnormal_bone_mineralization1.69534286
18MP0009250_abnormal_appendicular_skeleto1.65928233
19MP0003045_fibrosis1.65015176
20MP0010368_abnormal_lymphatic_system1.64907679
21MP0002060_abnormal_skin_morphology1.64006083
22MP0002295_abnormal_pulmonary_circulatio1.60665719
23MP0003566_abnormal_cell_adhesion1.59987936
24MP0002168_other_aberrant_phenotype1.59960821
25MP0005171_absent_coat_pigmentation1.58631203
26MP0006054_spinal_hemorrhage1.56708693
27MP0003941_abnormal_skin_development1.53456685
28MP0002254_reproductive_system_inflammat1.50270433
29MP0003942_abnormal_urinary_system1.48407122
30MP0001299_abnormal_eye_distance/1.47855492
31MP0000733_abnormal_muscle_development1.44026959
32MP0001879_abnormal_lymphatic_vessel1.40343851
33MP0000428_abnormal_craniofacial_morphol1.37397070
34MP0003091_abnormal_cell_migration1.36772821
35MP0009780_abnormal_chondrocyte_physiolo1.35718397
36MP0000462_abnormal_digestive_system1.35443049
37MP0000751_myopathy1.33907895
38MP0002115_abnormal_skeleton_extremities1.32757364
39MP0000163_abnormal_cartilage_morphology1.28825063
40MP0000767_abnormal_smooth_muscle1.26297055
41MP0002249_abnormal_larynx_morphology1.21073716
42MP0002932_abnormal_joint_morphology1.20157384
43MP0000049_abnormal_middle_ear1.18991378
44* MP0003115_abnormal_respiratory_system1.17196764
45MP0003300_gastrointestinal_ulcer1.15204606
46MP0003935_abnormal_craniofacial_develop1.14547388
47MP0002233_abnormal_nose_morphology1.13516997
48MP0003755_abnormal_palate_morphology1.13136503
49MP0002282_abnormal_trachea_morphology1.12745788
50MP0005023_abnormal_wound_healing1.11333709
51MP0003937_abnormal_limbs/digits/tail_de1.10898026
52MP0003122_maternal_imprinting1.07402646
53MP0000432_abnormal_head_morphology1.06963334
54MP0000013_abnormal_adipose_tissue1.06373624
55MP0004134_abnormal_chest_morphology1.06063044
56MP0002113_abnormal_skeleton_development1.04948146
57MP0002998_abnormal_bone_remodeling1.03240580
58MP0001177_atelectasis1.02356643
59MP0009053_abnormal_anal_canal1.02060928
60MP0000537_abnormal_urethra_morphology1.00020808
61MP0003195_calcinosis0.99426921
62MP0002116_abnormal_craniofacial_bone0.97943709
63MP0002109_abnormal_limb_morphology0.93155752
64MP0000762_abnormal_tongue_morphology0.92361234
65MP0002089_abnormal_postnatal_growth/wei0.92058239
66MP0002928_abnormal_bile_duct0.91908008
67MP0002938_white_spotting0.91749121
68MP0000569_abnormal_digit_pigmentation0.86251603
69MP0005595_abnormal_vascular_smooth0.85422585
70MP0002102_abnormal_ear_morphology0.83264045
71MP0001243_abnormal_dermal_layer0.82291528
72* MP0002128_abnormal_blood_circulation0.81890349
73MP0003878_abnormal_ear_physiology0.80884680
74MP0005377_hearing/vestibular/ear_phenot0.80884680
75MP0005390_skeleton_phenotype0.80378445
76MP0010352_gastrointestinal_tract_polyps0.80334783
77MP0002933_joint_inflammation0.79435055
78MP0005248_abnormal_Harderian_gland0.79334370
79MP0005388_respiratory_system_phenotype0.78758892
80MP0002133_abnormal_respiratory_system0.78758892
81MP0000566_synostosis0.78505873
82MP0000003_abnormal_adipose_tissue0.78018462
83MP0001614_abnormal_blood_vessel0.77773609
84* MP0002925_abnormal_cardiovascular_devel0.76221187
85MP0001270_distended_abdomen0.75852432
86MP0002697_abnormal_eye_size0.75689835
87MP0000516_abnormal_urinary_system0.75392844
88MP0005367_renal/urinary_system_phenotyp0.75392844
89MP0005164_abnormal_response_to0.75029416
90MP0002877_abnormal_melanocyte_morpholog0.71201749
91MP0004036_abnormal_muscle_relaxation0.71102179
92MP0005620_abnormal_muscle_contractility0.70594075
93* MP0003252_abnormal_bile_duct0.70393994
94MP0005193_abnormal_anterior_eye0.69822940
95MP0004084_abnormal_cardiac_muscle0.69583019
96MP0003795_abnormal_bone_structure0.69200105
97MP0002177_abnormal_outer_ear0.69199982
98MP0005197_abnormal_uvea_morphology0.69112327
99MP0002114_abnormal_axial_skeleton0.68702522
100MP0005369_muscle_phenotype0.68562919
101MP0001849_ear_inflammation0.67558487
102MP0001915_intracranial_hemorrhage0.66896729
103* MP0001175_abnormal_lung_morphology0.65643637
104MP0010386_abnormal_urinary_bladder0.64596497
105MP0000749_muscle_degeneration0.64264293
106MP0006138_congestive_heart_failure0.63153598
107MP0002111_abnormal_tail_morphology0.61819378
108MP0008775_abnormal_heart_ventricle0.61412248
109MP0004043_abnormal_pH_regulation0.61339073
110MP0001542_abnormal_bone_strength0.60804774
111MP0005375_adipose_tissue_phenotype0.60724249
112MP0000538_abnormal_urinary_bladder0.60206171
113MP0005187_abnormal_penis_morphology0.58930180
114MP0000759_abnormal_skeletal_muscle0.58354124
115MP0000230_abnormal_systemic_arterial0.52961546
116MP0001286_abnormal_eye_development0.50282129
117MP0001348_abnormal_lacrimal_gland0.49126331
118MP0002092_abnormal_eye_morphology0.47437621
119MP0000427_abnormal_hair_cycle0.47063087

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.75460169
2Premature rupture of membranes (HP:0001788)6.18131963
3Broad metatarsal (HP:0001783)5.08146230
4Shallow orbits (HP:0000586)4.65347420
5Ankle contracture (HP:0006466)4.35165972
6Aortic dissection (HP:0002647)4.25190607
7Atrophic scars (HP:0001075)3.77052517
8Cerebral aneurysm (HP:0004944)3.53515272
9Soft skin (HP:0000977)3.53368611
10Neonatal short-limb short stature (HP:0008921)3.52682948
11Aortic aneurysm (HP:0004942)3.50854640
12Bladder diverticulum (HP:0000015)3.43826831
13Cervical subluxation (HP:0003308)3.35489872
14Follicular hyperkeratosis (HP:0007502)3.33696149
15Peritonitis (HP:0002586)3.14477583
16Mitral valve prolapse (HP:0001634)3.11263135
17Aortic regurgitation (HP:0001659)3.10166747
18Fragile skin (HP:0001030)3.02909350
19Dilatation of the ascending aorta (HP:0005111)3.00062844
20Abnormality of dentin (HP:0010299)2.92225398
21Type 1 muscle fiber predominance (HP:0003803)2.87012531
22Spinal rigidity (HP:0003306)2.76999433
23Wrist flexion contracture (HP:0001239)2.75332705
24Blue sclerae (HP:0000592)2.68819483
25Genu recurvatum (HP:0002816)2.65305193
26Vascular tortuosity (HP:0004948)2.60459769
27Aortic valve stenosis (HP:0001650)2.59339178
28Thin bony cortex (HP:0002753)2.57253286
29Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.56349993
30Bell-shaped thorax (HP:0001591)2.56307201
31Increased connective tissue (HP:0009025)2.55107104
32Wormian bones (HP:0002645)2.50738911
33Mitral stenosis (HP:0001718)2.49778243
34Wide anterior fontanel (HP:0000260)2.45982835
35Coronal craniosynostosis (HP:0004440)2.39078646
36Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.37246743
37Short 4th metacarpal (HP:0010044)2.37246743
38Bowel diverticulosis (HP:0005222)2.34949374
39Hyperextensible skin (HP:0000974)2.30207779
40Arterial tortuosity (HP:0005116)2.28968889
41Overgrowth (HP:0001548)2.24881876
42Buphthalmos (HP:0000557)2.24704299
43Camptodactyly of toe (HP:0001836)2.22526502
44Mildly elevated creatine phosphokinase (HP:0008180)2.20761533
45Syringomyelia (HP:0003396)2.20108036
46Spinal cord lesions (HP:0100561)2.20108036
47Joint laxity (HP:0001388)2.19009462
48Hip contracture (HP:0003273)2.18096653
49Mild short stature (HP:0003502)2.16930783
50Mesomelia (HP:0003027)2.15416858
51Cardiovascular calcification (HP:0011915)2.14811263
52Hypoplastic ischia (HP:0003175)2.14720093
53Aneurysm (HP:0002617)2.13714440
54Lymphangioma (HP:0100764)2.12632306
55Biconcave vertebral bodies (HP:0004586)2.12418988
56Turricephaly (HP:0000262)2.11201680
57Increased variability in muscle fiber diameter (HP:0003557)2.10133655
58Hypoplasia of the iris (HP:0007676)2.10072300
59Infantile muscular hypotonia (HP:0008947)2.08201723
60Broad ribs (HP:0000885)2.07649785
61Knee flexion contracture (HP:0006380)2.07149883
62Joint stiffness (HP:0001387)2.05764331
63Ectopia lentis (HP:0001083)2.04403492
64Deviation of the hallux (HP:0010051)2.03433467
65Metabolic alkalosis (HP:0200114)2.02892078
66Broad long bones (HP:0005622)2.02746166
67Slender build (HP:0001533)2.02612710
68Delayed cranial suture closure (HP:0000270)2.00161227
69Striae distensae (HP:0001065)1.99344549
70Abnormality of the acetabulum (HP:0003170)1.99115724
71Vertebral compression fractures (HP:0002953)1.98998519
72Delayed closure of the anterior fontanelle (HP:0001476)1.97954742
73Flat cornea (HP:0007720)1.97522202
74Elbow flexion contracture (HP:0002987)1.97344180
75Increased circulating renin level (HP:0000848)1.96094234
76Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.94618454
77Limited hip movement (HP:0008800)1.94168236
78Natal tooth (HP:0000695)1.92893019
79Abnormality of the 4th metacarpal (HP:0010012)1.92872908
80Protruding ear (HP:0000411)1.91712000
81Spondylolisthesis (HP:0003302)1.91075371
82Hypokalemic alkalosis (HP:0001949)1.90904976
83Abnormality of the ischium (HP:0003174)1.90832483
84Abnormality of the frontal sinuses (HP:0002687)1.90550484
85Femoral bowing (HP:0002980)1.89931353
86Hypoventilation (HP:0002791)1.88877199
87Ulnar bowing (HP:0003031)1.87795930
88Morphological abnormality of the middle ear (HP:0008609)1.87710783
89Tibial bowing (HP:0002982)1.87094624
90Disproportionate tall stature (HP:0001519)1.86957506
91Scapular winging (HP:0003691)1.86689705
92Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.86405795
93Asymmetry of the thorax (HP:0001555)1.84857427
94Flared iliac wings (HP:0002869)1.84134192
95Hallux valgus (HP:0001822)1.83952417
96Abnormal delivery (HP:0001787)1.82875086
97Aplasia involving bones of the upper limbs (HP:0009823)1.82331811
98Aplasia of the phalanges of the hand (HP:0009802)1.82331811
99Aplasia involving bones of the extremities (HP:0009825)1.82331811
100Pulmonic stenosis (HP:0001642)1.81830413
101Round ear (HP:0100830)1.81046764
102Absent frontal sinuses (HP:0002688)1.81041871
103Mitral regurgitation (HP:0001653)1.80815723
104Keratoconus (HP:0000563)1.80516351
105Increased corneal curvature (HP:0100692)1.80516351
106Osteoarthritis (HP:0002758)1.80036024
107Subacute progressive viral hepatitis (HP:0006572)1.79464848
108Persistence of primary teeth (HP:0006335)1.78963277
109Congenital glaucoma (HP:0001087)1.78941804
110Venous insufficiency (HP:0005293)1.77849023
111Short hallux (HP:0010109)1.75707779
112Ovoid vertebral bodies (HP:0003300)1.74247310
113Gingival overgrowth (HP:0000212)1.74159023
114Osteolytic defects of the hand bones (HP:0009699)1.72476553
115Osteolytic defects of the phalanges of the hand (HP:0009771)1.72476553
116Short nail (HP:0001799)1.72321189
117Hyperactive renin-angiotensin system (HP:0000841)1.71333046
118Venous abnormality (HP:0002624)1.71112791
119Tarsal synostosis (HP:0008368)1.70036226
120Broad phalanx (HP:0006009)1.69811242
121Bronchomalacia (HP:0002780)1.69663102
122Inguinal hernia (HP:0000023)1.69326657
123Narrow nasal bridge (HP:0000446)1.68691254
124Redundant skin (HP:0001582)1.67364948
125Abnormality of skull ossification (HP:0002703)1.64722463
126Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.63030892
127Long toe (HP:0010511)1.61254592
128Thoracolumbar scoliosis (HP:0002944)1.60799864
129Hypoplasia of the odontoid process (HP:0003311)1.60401213
130Narrow palate (HP:0000189)1.60333221

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.45412477
2PDGFRA3.46979194
3LATS13.15916576
4AKT33.12508450
5TTN3.02560234
6TRIB32.97991729
7WNK42.25712209
8WNK32.22043866
9SIK12.09494522
10EPHB22.07177736
11FRK2.06739087
12TGFBR21.98698897
13FER1.97286324
14RIPK11.89724337
15FLT31.81263910
16BRD41.76450918
17PIK3CG1.75008515
18TIE11.65947058
19PAK21.63386285
20OXSR11.63078862
21STK38L1.62445539
22MKNK21.54650154
23FGFR21.53029629
24BRSK21.50134523
25CAMK1D1.49357272
26PKN21.46802746
27EPHA31.45833713
28BMX1.45414416
29PTK61.44090066
30PRKD31.42192396
31PTK21.39364039
32CAMK1G1.37192515
33NTRK31.36336493
34NUAK11.35832428
35PDGFRB1.35576721
36LATS21.33506459
37PNCK1.29432526
38LIMK11.29354927
39DMPK1.27287417
40INSRR1.26926625
41TRPM71.26045344
42PAK31.25967255
43WNK11.24148941
44TAF11.22425882
45STK31.17574232
46MAP2K31.16611195
47SGK21.14881098
48SGK31.10125386
49PIK3CA1.09692805
50MAP3K31.08087737
51TNIK1.06460843
52TGFBR11.05367328
53PINK11.04155755
54FGFR11.03538118
55ERBB31.03013708
56NEK91.00338102
57STK390.99585018
58SGK4940.99473008
59SGK2230.99473008
60MKNK10.98846270
61MET0.95525597
62MTOR0.93226834
63ROCK10.92238131
64MAP3K20.90106907
65EPHB10.89923588
66GRK10.89887165
67PTK2B0.89723899
68RPS6KA20.88403973
69NLK0.88390569
70RET0.85683357
71NTRK10.78690415
72PRKG20.75789923
73MYLK0.74893592
74ABL20.74026766
75PAK40.71040547
76STK380.70989660
77STK240.69363598
78DAPK30.68800489
79PLK20.67670114
80MAP3K60.66502219
81KIT0.66242623
82BMPR1B0.65528691
83ILK0.63976481
84CDK120.62996235
85SGK10.62596059
86CDC42BPA0.62591973
87CAMK2D0.62099455
88MELK0.61984116
89INSR0.61047146
90PRKD10.58355722
91PRKAA20.58225515
92CDK60.55935209
93ERN10.53246945
94MAP3K70.53119797
95FGFR30.53099046
96CAMK2G0.52816136
97ROCK20.51526558
98MAP2K10.49971969
99CAMKK10.49166347
100TYRO30.47710252
101NEK60.46465395
102ZAK0.46153762
103PAK60.46132411
104* PRKCE0.45885479
105IGF1R0.45369994
106SRC0.44862836
107ABL10.41945799
108JAK10.41713414
109* PRKCH0.40648228
110WEE10.40550159
111CASK0.38851318
112RPS6KL10.38650066
113RPS6KC10.38650066
114CSNK1A1L0.37488543
115ADRBK10.37349534
116PRKG10.37267194
117EPHA20.35859949
118CDK80.35669718
119MAP3K120.35364831
120CSNK1G10.34642537
121CDK90.34077006
122ERBB20.33729107
123PLK30.33285166
124PDK20.33124519
125MAPK10.33058189
126MOS0.32594340
127* GSK3A0.32589576
128EPHA40.32093822
129HIPK20.31200709
130LRRK20.30312909
131FGFR40.29202916
132MARK20.29175585
133MAPK70.29131346
134ADRBK20.28801718
135RPS6KA60.28378329
136LMTK20.27521236
137ERBB40.27117551

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.73205012
2Protein digestion and absorption_Homo sapiens_hsa049742.77313619
3Focal adhesion_Homo sapiens_hsa045102.63831686
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.98248180
5Dilated cardiomyopathy_Homo sapiens_hsa054141.86474664
6Proteoglycans in cancer_Homo sapiens_hsa052051.86451863
7Adherens junction_Homo sapiens_hsa045201.85627688
8Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.71274448
9Amoebiasis_Homo sapiens_hsa051461.62090715
10Basal cell carcinoma_Homo sapiens_hsa052171.60326310
11AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.59887881
12TGF-beta signaling pathway_Homo sapiens_hsa043501.52477034
13Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.51291961
14Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.43244191
15Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42611087
16Hippo signaling pathway_Homo sapiens_hsa043901.42042633
17Hedgehog signaling pathway_Homo sapiens_hsa043401.41688393
18Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40722483
19PI3K-Akt signaling pathway_Homo sapiens_hsa041511.39016423
20Small cell lung cancer_Homo sapiens_hsa052221.35827366
21Melanoma_Homo sapiens_hsa052181.35493327
22MicroRNAs in cancer_Homo sapiens_hsa052061.34613252
23Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.33336355
24Axon guidance_Homo sapiens_hsa043601.32830501
25Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.31649432
26Lysine degradation_Homo sapiens_hsa003101.31600820
27Bladder cancer_Homo sapiens_hsa052191.30335647
28Rap1 signaling pathway_Homo sapiens_hsa040151.11214808
29Malaria_Homo sapiens_hsa051441.10994825
30Nitrogen metabolism_Homo sapiens_hsa009101.10954774
31Dorso-ventral axis formation_Homo sapiens_hsa043201.09972829
32Regulation of actin cytoskeleton_Homo sapiens_hsa048101.07393077
33Ovarian steroidogenesis_Homo sapiens_hsa049131.06951634
34Prostate cancer_Homo sapiens_hsa052151.04960166
35Glioma_Homo sapiens_hsa052141.04522212
36Glycosaminoglycan degradation_Homo sapiens_hsa005311.03594659
37Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.00943155
38Thyroid hormone synthesis_Homo sapiens_hsa049181.00865186
39Tight junction_Homo sapiens_hsa045301.00515984
40Other glycan degradation_Homo sapiens_hsa005110.99889960
41Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.99614639
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97339661
43Circadian rhythm_Homo sapiens_hsa047100.97113485
44Wnt signaling pathway_Homo sapiens_hsa043100.95542333
45Chronic myeloid leukemia_Homo sapiens_hsa052200.91997495
46Selenocompound metabolism_Homo sapiens_hsa004500.91918077
47Gap junction_Homo sapiens_hsa045400.91054086
48Pathways in cancer_Homo sapiens_hsa052000.90989717
49Melanogenesis_Homo sapiens_hsa049160.90676639
50Protein export_Homo sapiens_hsa030600.90626611
51Sphingolipid metabolism_Homo sapiens_hsa006000.89866252
52Renin secretion_Homo sapiens_hsa049240.87760105
53GnRH signaling pathway_Homo sapiens_hsa049120.86930010
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.86232247
55Gastric acid secretion_Homo sapiens_hsa049710.83625096
56Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83253186
57Notch signaling pathway_Homo sapiens_hsa043300.80911140
58Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.80618863
59Platelet activation_Homo sapiens_hsa046110.78567089
60Maturity onset diabetes of the young_Homo sapiens_hsa049500.77666056
61Bile secretion_Homo sapiens_hsa049760.77614833
62cGMP-PKG signaling pathway_Homo sapiens_hsa040220.74709949
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.73904027
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72708891
65Aldosterone synthesis and secretion_Homo sapiens_hsa049250.72161193
66Endometrial cancer_Homo sapiens_hsa052130.71587301
67Butanoate metabolism_Homo sapiens_hsa006500.69517276
68cAMP signaling pathway_Homo sapiens_hsa040240.68780135
69Estrogen signaling pathway_Homo sapiens_hsa049150.67947959
70Leukocyte transendothelial migration_Homo sapiens_hsa046700.67203095
71Ras signaling pathway_Homo sapiens_hsa040140.66926521
72Circadian entrainment_Homo sapiens_hsa047130.66666610
73p53 signaling pathway_Homo sapiens_hsa041150.66463908
74Long-term depression_Homo sapiens_hsa047300.65505835
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64086803
76Insulin resistance_Homo sapiens_hsa049310.64059311
77Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.63894763
78Insulin secretion_Homo sapiens_hsa049110.62890639
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.61796895
80Pancreatic cancer_Homo sapiens_hsa052120.61781500
81Mineral absorption_Homo sapiens_hsa049780.61729938
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.60845049
83Type II diabetes mellitus_Homo sapiens_hsa049300.60777438
84Choline metabolism in cancer_Homo sapiens_hsa052310.59991018
85Salivary secretion_Homo sapiens_hsa049700.58162965
86Renin-angiotensin system_Homo sapiens_hsa046140.57679022
87Calcium signaling pathway_Homo sapiens_hsa040200.57109011
88Vitamin B6 metabolism_Homo sapiens_hsa007500.57000717
89Lysosome_Homo sapiens_hsa041420.56033850
90N-Glycan biosynthesis_Homo sapiens_hsa005100.55892760
91Fatty acid metabolism_Homo sapiens_hsa012120.55382405
92Oxytocin signaling pathway_Homo sapiens_hsa049210.54001758
93Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.53993271
94Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53809341
95FoxO signaling pathway_Homo sapiens_hsa040680.53712537
96PPAR signaling pathway_Homo sapiens_hsa033200.53581113
97Cocaine addiction_Homo sapiens_hsa050300.52679307
98Non-homologous end-joining_Homo sapiens_hsa034500.52337849
99TNF signaling pathway_Homo sapiens_hsa046680.52311683
100mTOR signaling pathway_Homo sapiens_hsa041500.52151380
101MAPK signaling pathway_Homo sapiens_hsa040100.52074650
102Glucagon signaling pathway_Homo sapiens_hsa049220.51922291
103Colorectal cancer_Homo sapiens_hsa052100.50840066
104Complement and coagulation cascades_Homo sapiens_hsa046100.50009709
105Sulfur metabolism_Homo sapiens_hsa009200.48423444
106Fatty acid degradation_Homo sapiens_hsa000710.48010540
107Vitamin digestion and absorption_Homo sapiens_hsa049770.46995605
108Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.46501080
109Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46171807
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45829200
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.45421331
112Propanoate metabolism_Homo sapiens_hsa006400.45355184
113Glutamatergic synapse_Homo sapiens_hsa047240.44673312
114Cholinergic synapse_Homo sapiens_hsa047250.43541654
115AMPK signaling pathway_Homo sapiens_hsa041520.43281231
116Renal cell carcinoma_Homo sapiens_hsa052110.43145478
117Pancreatic secretion_Homo sapiens_hsa049720.42820381
118Folate biosynthesis_Homo sapiens_hsa007900.42426168
119ErbB signaling pathway_Homo sapiens_hsa040120.42222681
120Inositol phosphate metabolism_Homo sapiens_hsa005620.41637218
121Dopaminergic synapse_Homo sapiens_hsa047280.41020385
122Central carbon metabolism in cancer_Homo sapiens_hsa052300.40982175
123Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36954627
124Prolactin signaling pathway_Homo sapiens_hsa049170.33467886

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