SPRR2E

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 a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1intermediate filament organization (GO:0045109)8.33870221
2skin morphogenesis (GO:0043589)8.05399198
3ectoderm development (GO:0007398)7.97424304
4epidermal cell differentiation (GO:0009913)7.84669898
5* epidermis development (GO:0008544)7.72839613
6multicellular organismal water homeostasis (GO:0050891)7.69899173
7bundle of His cell to Purkinje myocyte communication (GO:0086069)6.64528613
8water homeostasis (GO:0030104)6.43787818
9intermediate filament cytoskeleton organization (GO:0045104)6.38889248
10regulation of natural killer cell differentiation (GO:0032823)6.37518595
11intermediate filament-based process (GO:0045103)6.19696775
12negative regulation of interferon-gamma production (GO:0032689)5.77652565
13sequestering of metal ion (GO:0051238)5.46509193
14negative regulation of interleukin-17 production (GO:0032700)4.99145412
15positive regulation of T cell chemotaxis (GO:0010820)4.84656131
16regulation of T cell chemotaxis (GO:0010819)4.84656131
17fatty acid elongation (GO:0030497)4.69076738
18cell-substrate junction assembly (GO:0007044)4.40297164
19detection of external biotic stimulus (GO:0098581)4.40007248
20defense response to fungus (GO:0050832)4.08588068
21keratinocyte development (GO:0003334)4.06409443
22phosphatidylinositol acyl-chain remodeling (GO:0036149)4.04998903
23ceramide biosynthetic process (GO:0046513)4.02431256
24citrulline biosynthetic process (GO:0019240)4.02000126
25positive regulation of cellular amide metabolic process (GO:0034250)3.95461546
26keratinocyte proliferation (GO:0043616)3.89864085
27positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)3.86587583
28cellular response to interleukin-4 (GO:0071353)3.83847196
29long-chain fatty acid biosynthetic process (GO:0042759)3.82116335
30response to zinc ion (GO:0010043)3.80262303
31detection of biotic stimulus (GO:0009595)3.74889810
32defense response to Gram-negative bacterium (GO:0050829)3.74772502
33phosphatidylserine acyl-chain remodeling (GO:0036150)3.69126067
34detection of bacterium (GO:0016045)3.55917663
35negative regulation of keratinocyte proliferation (GO:0010839)3.51838686
36skin development (GO:0043588)3.47826420
37phospholipid catabolic process (GO:0009395)3.46103526
38positive regulation of monocyte chemotaxis (GO:0090026)3.45374377
39* epithelium development (GO:0060429)3.43523439
40response to interleukin-4 (GO:0070670)3.33176833
41fibrinolysis (GO:0042730)3.27308230
42regulation of transforming growth factor beta1 production (GO:0032908)3.26643860
43antimicrobial humoral response (GO:0019730)3.24188912
44ventricular cardiac muscle cell action potential (GO:0086005)3.16199866
45detection of other organism (GO:0098543)3.15247334
46regulation of neuron projection regeneration (GO:0070570)3.09397698
47regulation of axon regeneration (GO:0048679)3.09397698
48positive regulation of granulocyte chemotaxis (GO:0071624)3.08735942
49adhesion of symbiont to host cell (GO:0044650)3.07319429
50virion attachment to host cell (GO:0019062)3.07319429
51* keratinization (GO:0031424)24.1518068
52phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.98855107
53regulation of monocyte chemotaxis (GO:0090025)2.98388548
54gap junction assembly (GO:0016264)2.97524686
55regulation of natural killer cell activation (GO:0032814)2.94604446
56negative regulation of cell fate specification (GO:0009996)2.92979067
57phosphatidylserine metabolic process (GO:0006658)2.92553602
58phosphatidylglycerol metabolic process (GO:0046471)2.92036504
59regulation of lymphocyte chemotaxis (GO:1901623)2.88112376
60phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.83670631
61surfactant homeostasis (GO:0043129)2.81194204
62response to UV-B (GO:0010224)2.80500423
63hair follicle morphogenesis (GO:0031069)2.78201473
64positive regulation of keratinocyte differentiation (GO:0045618)2.77885615
65regulation of interleukin-17 production (GO:0032660)2.77548195
66atrioventricular valve morphogenesis (GO:0003181)2.75353892
67response to fungus (GO:0009620)2.73115772
68regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.72569538
69cellular response to arsenic-containing substance (GO:0071243)2.70604176
70wound healing (GO:0042060)2.68076030
71positive regulation of epidermis development (GO:0045684)2.66169257
72cytoskeletal anchoring at plasma membrane (GO:0007016)2.66005110
73eyelid development in camera-type eye (GO:0061029)2.64846808
74adhesion of symbiont to host (GO:0044406)2.63839907
75regulation of cardioblast differentiation (GO:0051890)2.63557184
76positive regulation of cholesterol efflux (GO:0010875)2.62159635
77one-carbon compound transport (GO:0019755)2.60097390
78phosphatidic acid metabolic process (GO:0046473)2.59736338
79phosphatidic acid biosynthetic process (GO:0006654)2.59736338
80regulation of hydrogen peroxide metabolic process (GO:0010310)2.59218388
81polarized epithelial cell differentiation (GO:0030859)2.59013822
82negative regulation of heart growth (GO:0061117)2.57361122
83negative regulation of cardiac muscle tissue growth (GO:0055022)2.57361122
84establishment of tissue polarity (GO:0007164)2.54851093
85establishment of planar polarity (GO:0001736)2.54851093
86long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.54798228
87regulation of T cell migration (GO:2000404)2.52540295
88phospholipid efflux (GO:0033700)2.51182744
89long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.51083537
90sphingolipid biosynthetic process (GO:0030148)2.50100227
91planar cell polarity pathway involved in neural tube closure (GO:0090179)2.49382238
92positive regulation of T cell migration (GO:2000406)2.48558244
93response to phenylpropanoid (GO:0080184)2.48516212
94regulation of histone phosphorylation (GO:0033127)2.47391084
95positive regulation of glomerulus development (GO:0090193)2.44351854
96lung lobe morphogenesis (GO:0060463)2.43704624
97linoleic acid metabolic process (GO:0043651)2.42986344
98regulation of keratinocyte differentiation (GO:0045616)2.42493456
99regulation of epidermis development (GO:0045682)2.42120171
100negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.42035867
101epithelial cell differentiation (GO:0030855)2.41101709
102lipoxygenase pathway (GO:0019372)2.40072851
103positive regulation of epidermal cell differentiation (GO:0045606)2.38440708
104alditol phosphate metabolic process (GO:0052646)2.38318530
105interferon-gamma secretion (GO:0072643)2.37399981
106phosphatidylcholine acyl-chain remodeling (GO:0036151)2.36922756
107citrulline metabolic process (GO:0000052)2.36725864
108regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.34748100
109positive regulation of interleukin-8 secretion (GO:2000484)2.34211865
110epithelial cell-cell adhesion (GO:0090136)2.33678343
111regulation of hair cycle (GO:0042634)2.33675134
112fatty-acyl-CoA biosynthetic process (GO:0046949)2.33144405
113lateral sprouting from an epithelium (GO:0060601)2.32479041
114regulation of keratinocyte proliferation (GO:0010837)2.32023426
115positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.31738979
116hair cell differentiation (GO:0035315)2.31724373
117renal absorption (GO:0070293)2.30661340
118positive regulation of p38MAPK cascade (GO:1900745)2.30117679
119positive regulation of cholesterol transport (GO:0032376)2.29558295
120positive regulation of sterol transport (GO:0032373)2.29558295
121hormone catabolic process (GO:0042447)2.28897486
122interleukin-1-mediated signaling pathway (GO:0070498)2.28356458
123negative regulation of lymphocyte differentiation (GO:0045620)2.27367311
124peptidyl-arginine modification (GO:0018195)2.25315436
125regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.25130950
126regulation of endothelial cell chemotaxis (GO:2001026)2.25060723
127response to vitamin D (GO:0033280)2.24843931
128wound healing, spreading of epidermal cells (GO:0035313)2.22659184
129amyloid precursor protein metabolic process (GO:0042982)2.21244444
130cellular component disassembly involved in execution phase of apoptosis (GO:0006921)2.20895761
131regulation of ruffle assembly (GO:1900027)2.20604448
132chemical homeostasis within a tissue (GO:0048875)2.15497503
133regulation of chemokine secretion (GO:0090196)2.14230472
134regulation of epidermal cell differentiation (GO:0045604)2.13250597
135chronic inflammatory response (GO:0002544)2.12333134
136cell communication involved in cardiac conduction (GO:0086065)2.08131762
137hair cycle (GO:0042633)15.5159224
138molting cycle (GO:0042303)15.5159224
139establishment of skin barrier (GO:0061436)13.3130443
140hemidesmosome assembly (GO:0031581)12.1938835
141regulation of water loss via skin (GO:0033561)11.8117526
142desmosome organization (GO:0002934)11.4242339
143keratinocyte differentiation (GO:0030216)10.7181096
144peptide cross-linking (GO:0018149)10.1918857

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.73287264
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.46883640
3SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.13466815
4P63_26484246_Chip-Seq_KERATINOCYTES_Human2.99313958
5ZNF263_19887448_ChIP-Seq_K562_Human2.31915772
6SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.30352035
7SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.30352035
8ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.27144535
9ATF3_27146783_Chip-Seq_COLON_Human2.00819512
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.00314041
11TP63_17297297_ChIP-ChIP_HaCaT_Human15.3903269
12ESR2_21235772_ChIP-Seq_MCF-7_Human1.95882513
13EGR1_19032775_ChIP-ChIP_M12_Human1.86891205
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84770739
15NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.77214941
16RARG_19884340_ChIP-ChIP_MEFs_Mouse1.72260581
17TRIM28_21343339_ChIP-Seq_HEK293_Human1.69992934
18RACK7_27058665_Chip-Seq_MCF-7_Human1.66530720
19FOXO3_23340844_ChIP-Seq_DLD1_Human1.63467533
20SOX9_24532713_ChIP-Seq_HFSC_Mouse1.63093910
21CLOCK_20551151_ChIP-Seq_293T_Human1.62699709
22SOX2_20726797_ChIP-Seq_SW620_Human1.55326886
23KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.55254859
24HIF1A_21447827_ChIP-Seq_MCF-7_Human1.49933737
25KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.44648600
26GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.44261674
27PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.43624950
28CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.38256256
29ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.37063976
30UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.34004610
31RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.29907550
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.29726338
33VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.25611546
34STAT6_21828071_ChIP-Seq_BEAS2B_Human1.24837848
35E2F1_20622854_ChIP-Seq_HELA_Human1.24585616
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.23519398
37UBF1/2_26484160_Chip-Seq_HMECs_Human1.23233214
38TP63_22573176_ChIP-Seq_HFKS_Human1.23131238
39SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.21924051
40ESR1_20079471_ChIP-ChIP_T-47D_Human1.21883531
41ELK3_25401928_ChIP-Seq_HUVEC_Human1.21501214
42GATA3_24758297_ChIP-Seq_MCF-7_Human1.21322170
43TCF4_18268006_ChIP-ChIP_LS174T_Human1.18045628
44TP63_23658742_ChIP-Seq_EP156T_Human1.18015658
45BCOR_27268052_Chip-Seq_Bcells_Human1.14588855
46CTCF_20526341_ChIP-Seq_ESCs_Human1.14571780
47TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13991657
48RUNX1_27514584_Chip-Seq_MCF-7_Human1.12570411
49KLF5_25053715_ChIP-Seq_YYC3_Human1.12051504
50P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.10565378
51LXR_22292898_ChIP-Seq_THP-1_Human1.10345742
52CJUN_26792858_Chip-Seq_BT549_Human1.10180752
53FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.09839367
54* ERG_20517297_ChIP-Seq_VCAP_Human1.09619374
55* GATA6_21074721_ChIP-Seq_CACO-2_Human1.08647585
56SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.07885345
57PPAR_26484153_Chip-Seq_NCI-H1993_Human1.05936864
58ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04765864
59CTCF_27219007_Chip-Seq_Bcells_Human1.04097156
60STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.03164316
61BCL6_27268052_Chip-Seq_Bcells_Human1.00371232
62RXR_22108803_ChIP-Seq_LS180_Human0.98895279
63ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.97427673
64SA1_27219007_Chip-Seq_ERYTHROID_Human0.96798693
65CSB_26484114_Chip-Seq_FIBROBLAST_Human0.96355742
66* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95159023
67CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93628814
68ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93571770
69P300_27058665_Chip-Seq_ZR-75-30cells_Human0.92764583
70* P53_21459846_ChIP-Seq_SAOS-2_Human0.92032802
71GATA6_25053715_ChIP-Seq_YYC3_Human0.91503629
72* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90336937
73ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89802887
74HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.89635535
75NANOG_20526341_ChIP-Seq_ESCs_Human0.89327270
76P68_20966046_ChIP-Seq_HELA_Human0.87054273
77BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.85126063
78TAF2_19829295_ChIP-Seq_ESCs_Human0.84544282
79GATA4_25053715_ChIP-Seq_YYC3_Human0.83310438
80RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.83149032
81FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.82770109
82SPI1_20517297_ChIP-Seq_HL60_Human0.82741499
83ZFP281_18757296_ChIP-ChIP_E14_Mouse0.80752678
84YY1_22570637_ChIP-Seq_MALME-3M_Human0.80651801
85BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.79513843
86ERG_21242973_ChIP-ChIP_JURKAT_Human0.79484322
87FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.79336296
88KDM2B_26808549_Chip-Seq_DND41_Human0.78492393
89RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78450600
90TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.77744099
91ZNF217_24962896_ChIP-Seq_MCF-7_Human0.77326334
92* RBPJ_21746931_ChIP-Seq_IB4_Human0.76476078
93RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.76388407
94THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.76297692
95SA1_27219007_Chip-Seq_Bcells_Human0.75862542
96KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.75119715
97* SMC4_20622854_ChIP-Seq_HELA_Human0.75001245
98PPARA_22158963_ChIP-Seq_LIVER_Mouse0.74999063
99HNFA_21074721_ChIP-Seq_CACO-2_Human0.74814939
100* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.74129385
101GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.74037026
102P300_27268052_Chip-Seq_Bcells_Human0.73701503
103CEBPB_22108803_ChIP-Seq_LS180_Human0.72830824
104SOX2_27498859_Chip-Seq_STOMACH_Mouse0.72760136
105CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.72100878
106RAC3_21632823_ChIP-Seq_H3396_Human0.71206677
107JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.70516418
108NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.69500918
109NCOR_22424771_ChIP-Seq_293T_Human0.69382065
110TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.69036433
111EGR1_19374776_ChIP-ChIP_THP-1_Human0.68401107
112KDM2B_26808549_Chip-Seq_K562_Human0.67854523
113AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.67669883
114MYB_21317192_ChIP-Seq_ERMYB_Mouse0.66447606
115NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.66231214
116TP53_18474530_ChIP-ChIP_U2OS_Human0.66030504
117RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.65992377
118GATA2_19941826_ChIP-Seq_K562_Human0.65664956
119SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.65048657

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000579_abnormal_nail_morphology8.04801067
2MP0002796_impaired_skin_barrier7.90480408
3MP0005275_abnormal_skin_tensile5.92673207
4MP0005501_abnormal_skin_physiology5.04204376
5MP0010234_abnormal_vibrissa_follicle4.15223345
6MP0000467_abnormal_esophagus_morphology3.94658151
7MP0000383_abnormal_hair_follicle3.43666400
8MP0001216_abnormal_epidermal_layer3.38790686
9MP0003705_abnormal_hypodermis_morpholog3.30913328
10MP0003453_abnormal_keratinocyte_physiol3.20348373
11MP0010678_abnormal_skin_adnexa3.19765380
12MP0010771_integument_phenotype2.94258825
13MP0004381_abnormal_hair_follicle2.93026003
14MP0002060_abnormal_skin_morphology2.90462352
15MP0004947_skin_inflammation2.78200986
16MP0003878_abnormal_ear_physiology2.77420619
17MP0005377_hearing/vestibular/ear_phenot2.77420619
18MP0000762_abnormal_tongue_morphology2.55294466
19MP0000647_abnormal_sebaceous_gland2.32720916
20MP0000377_abnormal_hair_follicle2.32250674
21MP0003191_abnormal_cellular_cholesterol2.26017579
22MP0003941_abnormal_skin_development2.15071292
23MP0002098_abnormal_vibrissa_morphology2.03859274
24MP0003566_abnormal_cell_adhesion2.03585282
25MP0002254_reproductive_system_inflammat2.00163948
26MP0000427_abnormal_hair_cycle1.92720691
27MP0005409_darkened_coat_color1.82969785
28MP0009931_abnormal_skin_appearance1.65233201
29MP0005451_abnormal_body_composition1.57952635
30MP0009379_abnormal_foot_pigmentation1.54549808
31MP0000566_synostosis1.52403799
32MP0000465_gastrointestinal_hemorrhage1.43063733
33MP0002234_abnormal_pharynx_morphology1.42832479
34MP0005023_abnormal_wound_healing1.42691622
35MP0008438_abnormal_cutaneous_collagen1.41334333
36MP0001191_abnormal_skin_condition1.38137028
37MP0004185_abnormal_adipocyte_glucose1.37170175
38MP0000367_abnormal_coat/_hair1.34010738
39MP0001243_abnormal_dermal_layer1.28625444
40MP0001849_ear_inflammation1.27878744
41MP0009053_abnormal_anal_canal1.27267070
42MP0002095_abnormal_skin_pigmentation1.22558628
43MP0004043_abnormal_pH_regulation1.19946337
44MP0001851_eye_inflammation1.15900721
45MP0004885_abnormal_endolymph1.14183055
46MP0004264_abnormal_extraembryonic_tissu0.95673073
47MP0010352_gastrointestinal_tract_polyps0.90741059
48MP0001188_hyperpigmentation0.79561776
49MP0003436_decreased_susceptibility_to0.76192270
50MP0008004_abnormal_stomach_pH0.69365300
51MP0008789_abnormal_olfactory_epithelium0.69106312
52MP0003755_abnormal_palate_morphology0.67286927
53MP0001784_abnormal_fluid_regulation0.61912609
54MP0002282_abnormal_trachea_morphology0.61821968
55MP0004782_abnormal_surfactant_physiolog0.61413427
56MP0003303_peritoneal_inflammation0.59712352
57MP0003329_amyloid_beta_deposits0.59275892
58MP0003315_abnormal_perineum_morphology0.59219668
59MP0004272_abnormal_basement_membrane0.54089722
60MP0006054_spinal_hemorrhage0.51751863
61MP0009840_abnormal_foam_cell0.50560627
62MP0001340_abnormal_eyelid_morphology0.50326806
63MP0000627_abnormal_mammary_gland0.49418579
64MP0000604_amyloidosis0.48065943
65MP0003950_abnormal_plasma_membrane0.47772762
66MP0010368_abnormal_lymphatic_system0.46112326
67MP0000537_abnormal_urethra_morphology0.45974862
68MP0005394_taste/olfaction_phenotype0.45753327
69MP0005499_abnormal_olfactory_system0.45753327
70MP0005076_abnormal_cell_differentiation0.43313333
71MP0001533_abnormal_skeleton_physiology0.41327083
72MP0001485_abnormal_pinna_reflex0.40398604
73MP0003448_altered_tumor_morphology0.39671815
74MP0001346_abnormal_lacrimal_gland0.38432919
75MP0004858_abnormal_nervous_system0.37186814
76MP0000733_abnormal_muscle_development0.36378867
77MP0003075_altered_response_to0.35615281
78MP0005666_abnormal_adipose_tissue0.35008326
79MP0000343_altered_response_to0.34899783
80MP0005075_abnormal_melanosome_morpholog0.32756434
81MP0002177_abnormal_outer_ear0.32634086
82MP0005503_abnormal_tendon_morphology0.32493409
83MP0003724_increased_susceptibility_to0.31193537
84MP0000750_abnormal_muscle_regeneration0.30697772
85MP0003300_gastrointestinal_ulcer0.30463643
86MP0010030_abnormal_orbit_morphology0.30087817
87MP0003763_abnormal_thymus_physiology0.28800235
88MP0002111_abnormal_tail_morphology0.27307478
89MP0000462_abnormal_digestive_system0.27267039
90MP0002877_abnormal_melanocyte_morpholog0.27152150
91MP0005193_abnormal_anterior_eye0.26728544
92MP0003011_delayed_dark_adaptation0.26086879
93MP0001958_emphysema0.24966321
94MP0005388_respiratory_system_phenotype0.24773545
95MP0002133_abnormal_respiratory_system0.24773545
96MP0004019_abnormal_vitamin_homeostasis0.24690113
97MP0000685_abnormal_immune_system0.24619994
98MP0003045_fibrosis0.24478093
99MP0000015_abnormal_ear_pigmentation0.24267403
100MP0000747_muscle_weakness0.23191369
101MP0003638_abnormal_response/metabolism_0.22180994
102MP0004197_abnormal_fetal_growth/weight/0.22178265
103MP0009333_abnormal_splenocyte_physiolog0.21770736
104MP0001186_pigmentation_phenotype0.21284666
105MP0001542_abnormal_bone_strength0.20488586
106MP0005375_adipose_tissue_phenotype0.20370576
107MP0000470_abnormal_stomach_morphology0.20087488
108MP0000751_myopathy0.20043121
109MP0002009_preneoplasia0.19853133
110MP0005174_abnormal_tail_pigmentation0.19658681
111MP0002006_tumorigenesis0.19046413
112MP0008260_abnormal_autophagy0.18346375
113MP0002166_altered_tumor_susceptibility0.18260513
114MP0005390_skeleton_phenotype0.18007837
115MP0010155_abnormal_intestine_physiology0.17812152
116MP0002138_abnormal_hepatobiliary_system0.17379363
117MP0003828_pulmonary_edema0.17128065
118MP0009672_abnormal_birth_weight0.17074176
119MP0009785_altered_susceptibility_to0.17015250
120MP0005166_decreased_susceptibility_to0.16928045
121MP0001177_atelectasis0.16692402
122MP0000538_abnormal_urinary_bladder0.15695043
123MP0004087_abnormal_muscle_fiber0.15194470
124MP0008569_lethality_at_weaning0.14052646
125MP0000003_abnormal_adipose_tissue0.13020410
126MP0001502_abnormal_circadian_rhythm0.11981096
127MP0001765_abnormal_ion_homeostasis0.10541795
128MP0009780_abnormal_chondrocyte_physiolo0.09643383
129MP0003221_abnormal_cardiomyocyte_apopto0.07494989
130MP0004510_myositis0.07237492
131MP0005508_abnormal_skeleton_morphology0.05100077

Predicted human phenotypes

RankGene SetZ-score
1Oral leukoplakia (HP:0002745)8.13516591
2Palmoplantar hyperkeratosis (HP:0000972)7.76817988
3Plantar hyperkeratosis (HP:0007556)7.62975987
4Alopecia of scalp (HP:0002293)7.47336669
5Palmar hyperkeratosis (HP:0010765)7.37209012
6Increased IgE level (HP:0003212)7.04066456
7Onycholysis (HP:0001806)6.93567502
8Follicular hyperkeratosis (HP:0007502)6.54408424
9Fragile nails (HP:0001808)5.76477383
10Hypotrichosis (HP:0001006)5.62793511
11Milia (HP:0001056)5.56386626
12Abnormal blistering of the skin (HP:0008066)5.20021492
13Woolly hair (HP:0002224)4.92945790
14Abnormality of the axillary hair (HP:0100134)4.75466693
15Abnormality of secondary sexual hair (HP:0009888)4.75466693
16Pili torti (HP:0003777)4.62351205
17Erythroderma (HP:0001019)4.56084790
18Right ventricular cardiomyopathy (HP:0011663)4.53860219
19Nail dystrophy (HP:0008404)4.37678604
20Laryngomalacia (HP:0001601)4.25904418
21Congenital ichthyosiform erythroderma (HP:0007431)4.14370058
22Erythema (HP:0010783)4.00849350
23Conjunctival hamartoma (HP:0100780)3.92448123
24Ridged nail (HP:0001807)3.61985260
25Corneal dystrophy (HP:0001131)3.58781977
26Palmoplantar keratoderma (HP:0000982)3.49806565
27Anonychia (HP:0001798)3.23791125
28Atrophic scars (HP:0001075)3.13397378
29Gangrene (HP:0100758)3.06432372
30Absent hair (HP:0002298)3.03485045
31Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.92458001
32Hyperhidrosis (HP:0000975)2.90870219
33Corneal erosion (HP:0200020)2.89902660
34Fatigable weakness (HP:0003473)2.89580584
35Abnormality of the neuromuscular junction (HP:0003398)2.89580584
36Ectropion (HP:0000656)2.87743172
37Hypohidrosis (HP:0000966)2.84970508
38Abnormal hair laboratory examination (HP:0003328)2.82796837
39Sparse scalp hair (HP:0002209)2.78387810
40Lip pit (HP:0100267)2.67204766
41Verrucae (HP:0200043)2.45791146
42Papilloma (HP:0012740)2.45791146
43Hamartoma of the eye (HP:0010568)2.38301055
44Sparse eyelashes (HP:0000653)2.35118891
45Curly hair (HP:0002212)2.33482714
46Ventricular tachycardia (HP:0004756)2.29709014
47Muscle fiber splitting (HP:0003555)2.27649087
48Carious teeth (HP:0000670)2.26306765
49Natal tooth (HP:0000695)2.22709196
50Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.22213097
51Paralysis (HP:0003470)2.20269169
52Advanced eruption of teeth (HP:0006288)2.19489748
53Abnormality of the fingernails (HP:0001231)2.17754125
54Urticaria (HP:0001025)2.16608640
55Type 1 muscle fiber predominance (HP:0003803)2.16360786
56Multifactorial inheritance (HP:0001426)2.13318605
57Hypergammaglobulinemia (HP:0010702)2.11186799
58Muscle fiber inclusion bodies (HP:0100299)2.09470568
59Pruritus (HP:0000989)2.07364151
60Nemaline bodies (HP:0003798)2.02238931
61Abnormality of nail color (HP:0100643)15.1947821
62Thick nail (HP:0001805)10.0213493
63Lack of skin elasticity (HP:0100679)1.98555946
64Parakeratosis (HP:0001036)1.97316641
65Round ear (HP:0100830)1.90350940
66Increased connective tissue (HP:0009025)1.88948071
67Sepsis (HP:0100806)1.88940192
68Calcaneovalgus deformity (HP:0001848)1.85742226
69Blepharitis (HP:0000498)1.85020390
70Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.84858922
71Distal arthrogryposis (HP:0005684)1.82605592
72Hyporeflexia of lower limbs (HP:0002600)1.78163455
73Axonal loss (HP:0003447)1.78144848
74Neonatal onset (HP:0003623)1.77968145
75Absent eyelashes (HP:0000561)1.77921084
76Skin ulcer (HP:0200042)1.75572106
77Myopathic facies (HP:0002058)1.72723016
78Melanocytic nevus (HP:0000995)1.70986375
79Fragile skin (HP:0001030)1.68755758
80Achilles tendon contracture (HP:0001771)1.68486058
81Ulnar deviation of the wrist (HP:0003049)1.67701164
82Dry skin (HP:0000958)1.67366792
83Eczematoid dermatitis (HP:0000976)1.66579272
84Premature rupture of membranes (HP:0001788)1.65120270
85Ventricular fibrillation (HP:0001663)1.65021443
86Deformed tarsal bones (HP:0008119)1.64603650
87Abnormality of hair growth rate (HP:0011363)1.63680197
88Slow-growing hair (HP:0002217)1.63680197
89Hypoplastic labia majora (HP:0000059)1.62946032
90Abnormality of the Achilles tendon (HP:0005109)1.55191329
91Neck muscle weakness (HP:0000467)1.53746638
92Keratoconjunctivitis sicca (HP:0001097)1.48082729
93Abnormality of the labia majora (HP:0012881)1.47459682
94Dry hair (HP:0011359)1.46140213
95Segmental peripheral demyelination/remyelination (HP:0003481)1.46093259
96Fine hair (HP:0002213)1.45744411
97Abnormality of small intestinal villus morphology (HP:0011472)1.43714108
98Villous atrophy (HP:0011473)1.43714108
99Amniotic constriction ring (HP:0009775)1.43199404
100Abnormality of placental membranes (HP:0011409)1.43199404
101Hypoplastic toenails (HP:0001800)1.42462031
102Recurrent bacterial skin infections (HP:0005406)1.42240883
103Selective tooth agenesis (HP:0001592)1.40740080
104Protrusio acetabuli (HP:0003179)1.39516400
105Popliteal pterygium (HP:0009756)1.36873568
106Acanthosis nigricans (HP:0000956)1.36568033
107Sudden death (HP:0001699)1.35937088
108Autoamputation (HP:0001218)1.33783508
109Hamartoma (HP:0010566)1.32814517
110Recurrent corneal erosions (HP:0000495)1.31827865
111Brittle hair (HP:0002299)1.30376520
112Keratoconjunctivitis (HP:0001096)1.30312507
113Abnormality of the salivary glands (HP:0010286)1.28949294
114Trismus (HP:0000211)1.26102302
115Peritonitis (HP:0002586)1.25493527
116Preauricular skin tag (HP:0000384)1.25281515
117Ankle contracture (HP:0006466)1.25248442
118Absent phalangeal crease (HP:0006109)1.24724180
119Abnormality of the calcaneus (HP:0008364)1.23770070
120Xerostomia (HP:0000217)1.22843660
121Furrowed tongue (HP:0000221)1.21191775
122Knee flexion contracture (HP:0006380)1.20480507
123Systemic lupus erythematosus (HP:0002725)1.20297104
124Osteolytic defects of the phalanges of the hand (HP:0009771)1.19787389
125Osteolytic defects of the hand bones (HP:0009699)1.19787389
126Elbow flexion contracture (HP:0002987)1.18858917
127Dehydration (HP:0001944)1.18834886
128Pustule (HP:0200039)1.18689382
129Everted lower lip vermilion (HP:0000232)1.16773643
130Generalized hyperpigmentation (HP:0007440)1.15778446
131Duplicated collecting system (HP:0000081)1.12155527
132Acanthocytosis (HP:0001927)1.10449516
133Conical tooth (HP:0000698)1.09311594

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA26.57707954
2ERN14.47871157
3FER3.94510667
4MST1R3.52777613
5SGK4942.75535366
6SGK2232.75535366
7TRIB32.69882421
8RPS6KA42.69607321
9MAP3K92.68871567
10NME12.63378688
11EPHB12.60753232
12MAP3K32.48924819
13PIK3CG2.45316132
14MAPKAPK32.24190543
15TAOK12.06325868
16EPHA31.98953496
17BLK1.96520681
18EPHB21.91832623
19MST41.89708446
20IRAK11.82880544
21FGFR41.80300722
22LATS21.73306026
23GRK61.67413036
24LATS11.61356286
25TTN1.58950353
26RPS6KB21.51359268
27TYK21.48074506
28TGFBR21.46521860
29RIPK11.43238016
30MAP3K21.40058479
31MAP3K61.36459423
32KSR21.34122687
33MET1.32457422
34TRPM71.30004985
35FGFR11.29316401
36MAP3K111.19949077
37EEF2K1.18803078
38PRPF4B1.14210562
39MAP2K31.14034619
40PTK21.13710176
41MAP3K11.13035005
42LRRK21.10951750
43IKBKB1.09706299
44PTK61.08061508
45IRAK31.05802525
46MAPK71.05227738
47MAP2K61.03338023
48MAP2K11.03201604
49DDR21.00580620
50PKN20.94347652
51IKBKE0.93845674
52STK38L0.92115184
53ERBB30.91943398
54STK100.88977260
55BMX0.88102448
56TESK10.87022103
57IRAK20.86515139
58MARK20.86359525
59MAP3K120.82164805
60IRAK40.81665501
61FGFR30.81277895
62PDGFRA0.74885750
63FGR0.74495535
64TSSK60.72675291
65MAP2K20.67936306
66STK30.67711062
67WNK10.67262614
68PRKD20.65446776
69LIMK10.65153634
70MAPKAPK20.64376688
71CDK120.63508844
72ADRBK10.62392644
73MAP3K80.60899213
74MAPKAPK50.59992162
75ALK0.59772085
76CDK60.59519529
77SGK10.59449618
78BUB10.58792382
79STK240.58232109
80TIE10.58197153
81STK380.58137591
82PIM20.58034025
83ABL20.57571403
84NLK0.57513405
85PAK20.53832231
86MAP3K70.53378768
87ERBB40.52910225
88NEK10.52548235
89MAP3K130.51897991
90PBK0.50704207
91PRKCI0.49658718
92PAK40.49480618
93KIT0.46940969
94JAK10.46771662
95BCR0.44509243
96MTOR0.43713216
97JAK20.43037951
98PAK30.42636049
99MOS0.40189336
100SGK30.39689732
101MAP2K40.38966224
102TBK10.37839606
103ERBB20.37813070
104GSK3A0.37712757
105TAOK20.37052322
106CSK0.36741509
107SIK30.36516193
108CDC42BPA0.35360285
109HIPK20.35195382
110OBSCN0.34850639
111PRKD10.34446307
112MAP3K50.33857963
113SGK20.32739723
114ILK0.31980043
115TYRO30.31581707
116SIK10.31026639
117RPS6KB10.29468432
118HCK0.28964849
119RPS6KA10.28266689
120PRKAA20.27473488
121MAPK40.27006627
122PDGFRB0.26617711
123MAP3K140.25754824
124DMPK0.25194279
125EGFR0.24027742
126PDK20.23813579
127ROCK20.23673170
128RET0.21852707
129PAK10.21679531
130KSR10.21102277
131SRC0.20593544
132PRKCE0.20174383
133TGFBR10.19812612
134MAPK120.19532275
135PAK60.18545033
136JAK30.17812150
137AKT20.16935952
138ZAP700.16471015
139FYN0.14865845

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.23465548
2Linoleic acid metabolism_Homo sapiens_hsa005913.80885248
3alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.75218225
4Staphylococcus aureus infection_Homo sapiens_hsa051502.70513437
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.34221577
6Arachidonic acid metabolism_Homo sapiens_hsa005902.31010437
7Fatty acid elongation_Homo sapiens_hsa000622.24123348
8Ether lipid metabolism_Homo sapiens_hsa005652.22739170
9ECM-receptor interaction_Homo sapiens_hsa045122.18461710
10Caffeine metabolism_Homo sapiens_hsa002321.92576868
11Fat digestion and absorption_Homo sapiens_hsa049751.91309827
12VEGF signaling pathway_Homo sapiens_hsa043701.87004791
13Amoebiasis_Homo sapiens_hsa051461.78021809
14Pertussis_Homo sapiens_hsa051331.75085988
15Vitamin B6 metabolism_Homo sapiens_hsa007501.58735544
16Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.57373473
17Toxoplasmosis_Homo sapiens_hsa051451.56513101
18Bladder cancer_Homo sapiens_hsa052191.56499788
19Proteoglycans in cancer_Homo sapiens_hsa052051.51459922
20Adherens junction_Homo sapiens_hsa045201.50705810
21GnRH signaling pathway_Homo sapiens_hsa049121.45708489
22Small cell lung cancer_Homo sapiens_hsa052221.38166914
23Serotonergic synapse_Homo sapiens_hsa047261.37225986
24Tight junction_Homo sapiens_hsa045301.36021335
25Leukocyte transendothelial migration_Homo sapiens_hsa046701.34212687
26Mineral absorption_Homo sapiens_hsa049781.33118926
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26918300
28Circadian rhythm_Homo sapiens_hsa047101.26796286
29Focal adhesion_Homo sapiens_hsa045101.22841081
30p53 signaling pathway_Homo sapiens_hsa041151.22168590
31Acute myeloid leukemia_Homo sapiens_hsa052211.15399502
32Malaria_Homo sapiens_hsa051441.13387718
33TNF signaling pathway_Homo sapiens_hsa046681.12901309
34Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.11455799
35Glycerophospholipid metabolism_Homo sapiens_hsa005641.10923201
36Thyroid cancer_Homo sapiens_hsa052161.07902805
37Dorso-ventral axis formation_Homo sapiens_hsa043201.06902854
38Steroid biosynthesis_Homo sapiens_hsa001001.03367290
39AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.02865941
40Renal cell carcinoma_Homo sapiens_hsa052111.02810157
41Leishmaniasis_Homo sapiens_hsa051401.00584889
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.99238412
43Histidine metabolism_Homo sapiens_hsa003400.97665972
44Salmonella infection_Homo sapiens_hsa051320.95973073
45Phototransduction_Homo sapiens_hsa047440.94571677
46Sphingolipid metabolism_Homo sapiens_hsa006000.90330250
47Complement and coagulation cascades_Homo sapiens_hsa046100.90033135
48Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.89471153
49MicroRNAs in cancer_Homo sapiens_hsa052060.88969706
50Shigellosis_Homo sapiens_hsa051310.88801389
51Hepatitis C_Homo sapiens_hsa051600.88086030
52Legionellosis_Homo sapiens_hsa051340.85799711
53Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.84275014
54Estrogen signaling pathway_Homo sapiens_hsa049150.84244602
55Phenylalanine metabolism_Homo sapiens_hsa003600.81002526
56Tuberculosis_Homo sapiens_hsa051520.80264848
57Platelet activation_Homo sapiens_hsa046110.78898188
58Jak-STAT signaling pathway_Homo sapiens_hsa046300.78290023
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.78183491
60HIF-1 signaling pathway_Homo sapiens_hsa040660.78143648
61Hippo signaling pathway_Homo sapiens_hsa043900.77457294
62Long-term depression_Homo sapiens_hsa047300.76707997
63Pancreatic secretion_Homo sapiens_hsa049720.73308917
64Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.73220458
65Renin secretion_Homo sapiens_hsa049240.72648874
66Regulation of actin cytoskeleton_Homo sapiens_hsa048100.72112674
67Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.71923625
68Vascular smooth muscle contraction_Homo sapiens_hsa042700.71333838
69Dilated cardiomyopathy_Homo sapiens_hsa054140.70592595
70Antigen processing and presentation_Homo sapiens_hsa046120.69226176
71Insulin resistance_Homo sapiens_hsa049310.68538155
72Central carbon metabolism in cancer_Homo sapiens_hsa052300.68525439
73Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.66795427
74Glutamatergic synapse_Homo sapiens_hsa047240.66716401
75Endocytosis_Homo sapiens_hsa041440.65907551
76Osteoclast differentiation_Homo sapiens_hsa043800.65379974
77Ras signaling pathway_Homo sapiens_hsa040140.65244506
78Glioma_Homo sapiens_hsa052140.64847461
79Apoptosis_Homo sapiens_hsa042100.64223133
80Lysosome_Homo sapiens_hsa041420.64012615
81Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63961635
82Sphingolipid signaling pathway_Homo sapiens_hsa040710.63676365
83Oxytocin signaling pathway_Homo sapiens_hsa049210.63588559
84PPAR signaling pathway_Homo sapiens_hsa033200.61816493
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.60151363
86Pancreatic cancer_Homo sapiens_hsa052120.58524529
87Axon guidance_Homo sapiens_hsa043600.58099923
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.57703092
89Prion diseases_Homo sapiens_hsa050200.56760288
90Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.55906229
91Fructose and mannose metabolism_Homo sapiens_hsa000510.55657777
92NOD-like receptor signaling pathway_Homo sapiens_hsa046210.55408365
93Phagosome_Homo sapiens_hsa041450.55277977
94Rap1 signaling pathway_Homo sapiens_hsa040150.52478672
95Pathways in cancer_Homo sapiens_hsa052000.52174671
96Influenza A_Homo sapiens_hsa051640.51446122
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.48208660
98RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.47489904
99Melanogenesis_Homo sapiens_hsa049160.46923646
100Chronic myeloid leukemia_Homo sapiens_hsa052200.45202819
101Steroid hormone biosynthesis_Homo sapiens_hsa001400.44511174
102Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.44358829
103PI3K-Akt signaling pathway_Homo sapiens_hsa041510.42236957
104Retinol metabolism_Homo sapiens_hsa008300.42213037
105MAPK signaling pathway_Homo sapiens_hsa040100.40718203
106Pentose phosphate pathway_Homo sapiens_hsa000300.39490088
107Ovarian steroidogenesis_Homo sapiens_hsa049130.39254903
108ABC transporters_Homo sapiens_hsa020100.38443217
109Gastric acid secretion_Homo sapiens_hsa049710.38372006
110Choline metabolism in cancer_Homo sapiens_hsa052310.37767785
111Galactose metabolism_Homo sapiens_hsa000520.37441008
112Prolactin signaling pathway_Homo sapiens_hsa049170.37277921
113Gap junction_Homo sapiens_hsa045400.36668957
114Hematopoietic cell lineage_Homo sapiens_hsa046400.35368159
115Neurotrophin signaling pathway_Homo sapiens_hsa047220.35304667
116Insulin signaling pathway_Homo sapiens_hsa049100.34119241
117Long-term potentiation_Homo sapiens_hsa047200.32422711
118Inositol phosphate metabolism_Homo sapiens_hsa005620.31508663
119Renin-angiotensin system_Homo sapiens_hsa046140.31259119
120ErbB signaling pathway_Homo sapiens_hsa040120.28668894
121Arginine biosynthesis_Homo sapiens_hsa002200.23995303
122Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.23543739
123Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.23199504
124Notch signaling pathway_Homo sapiens_hsa043300.18759642
125beta-Alanine metabolism_Homo sapiens_hsa004100.18666483
126Salivary secretion_Homo sapiens_hsa049700.17620171
127Cyanoamino acid metabolism_Homo sapiens_hsa004600.15493409
128Tyrosine metabolism_Homo sapiens_hsa003500.15258632

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