MAN2B1

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 enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.74924624
2positive regulation by organism of defense response of other organism involved in symbiotic interact5.74924624
3modulation by symbiont of host immune response (GO:0052553)5.74924624
4positive regulation by symbiont of host defense response (GO:0052509)5.74924624
5modulation by symbiont of host defense response (GO:0052031)5.74924624
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.74924624
7regulation of interferon-beta biosynthetic process (GO:0045357)5.47983922
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.28354948
9macrophage activation involved in immune response (GO:0002281)4.75072076
10antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.52359878
11antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.52359878
12regulation of B cell receptor signaling pathway (GO:0050855)4.50371469
13antigen processing and presentation of endogenous antigen (GO:0019883)4.36181463
14neutrophil activation involved in immune response (GO:0002283)4.34923183
15respiratory burst (GO:0045730)4.23301461
16positive regulation of interferon-alpha production (GO:0032727)4.14400739
17positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.11552365
18regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.10356716
19positive regulation of gamma-delta T cell activation (GO:0046645)4.02546437
20negative regulation of erythrocyte differentiation (GO:0045647)3.99113706
21microglial cell activation (GO:0001774)3.95540136
22regulation of interferon-alpha production (GO:0032647)3.93892702
23response to peptidoglycan (GO:0032494)3.83938288
24immunoglobulin mediated immune response (GO:0016064)3.82010569
25positive regulation of B cell differentiation (GO:0045579)3.81775856
26cellular extravasation (GO:0045123)3.78399958
27detection of other organism (GO:0098543)3.73184862
28glycosphingolipid catabolic process (GO:0046479)3.72840198
29negative regulation of granulocyte differentiation (GO:0030853)3.71350118
30positive regulation of antigen processing and presentation (GO:0002579)3.67600397
31response to host immune response (GO:0052572)3.66915514
32response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.66915514
33apoptotic cell clearance (GO:0043277)3.64387505
34detection of bacterium (GO:0016045)3.56009235
35negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.55244734
36negative regulation of cell killing (GO:0031342)3.55244734
37production of molecular mediator involved in inflammatory response (GO:0002532)3.53368217
38response to host (GO:0075136)3.47203201
39response to host defenses (GO:0052200)3.47203201
40response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.47203201
41pinocytosis (GO:0006907)3.43117641
42macrophage activation (GO:0042116)3.41948763
43myeloid cell activation involved in immune response (GO:0002275)3.38293879
44NIK/NF-kappaB signaling (GO:0038061)3.35265409
45glycolipid catabolic process (GO:0019377)3.33870244
46cellular response to thyroid hormone stimulus (GO:0097067)3.27496355
47detection of external biotic stimulus (GO:0098581)3.27305034
48regulation of B cell differentiation (GO:0045577)3.24676339
49complement activation, alternative pathway (GO:0006957)3.22233025
50amino sugar catabolic process (GO:0046348)3.21939474
51oligosaccharide catabolic process (GO:0009313)3.21713050
52T-helper 1 type immune response (GO:0042088)3.18514667
53myeloid dendritic cell differentiation (GO:0043011)3.18189422
54regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.17016886
55regulation of antigen processing and presentation (GO:0002577)3.14317547
56interferon-gamma-mediated signaling pathway (GO:0060333)3.09362728
57negative regulation of interleukin-12 production (GO:0032695)3.05634643
58response to muramyl dipeptide (GO:0032495)3.05237518
59positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.04876241
60detection of molecule of bacterial origin (GO:0032490)3.03304930
61neutrophil activation (GO:0042119)3.03080375
62myeloid dendritic cell activation (GO:0001773)3.02965857
63positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.02151698
64regulation of apoptotic cell clearance (GO:2000425)3.01772911
65granulocyte activation (GO:0036230)3.01076916
66Arp2/3 complex-mediated actin nucleation (GO:0034314)2.99157326
67positive regulation of mast cell activation (GO:0033005)2.98821817
68B cell receptor signaling pathway (GO:0050853)2.98821779
69negative regulation of cytokine production involved in immune response (GO:0002719)2.98598470
70regulation of gamma-delta T cell differentiation (GO:0045586)2.97792448
71neutrophil mediated immunity (GO:0002446)2.97302002
72regulation of cholesterol storage (GO:0010885)2.96669902
73positive regulation of cellular amide metabolic process (GO:0034250)2.95951583
74regulation of mast cell degranulation (GO:0043304)2.95526426
75detection of biotic stimulus (GO:0009595)2.95397506
76regulation of phagocytosis (GO:0050764)2.91852502
77ceramide catabolic process (GO:0046514)2.90065651
78response to protozoan (GO:0001562)2.89994464
79negative regulation of phagocytosis (GO:0050765)2.89907804
80positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.89394464
81regulation of vitamin D biosynthetic process (GO:0060556)2.89389218
82germinal center formation (GO:0002467)2.88488082
83positive regulation of leukocyte degranulation (GO:0043302)2.86064518
84positive regulation of interferon-beta production (GO:0032728)2.85918442
85cellular response to type I interferon (GO:0071357)2.84442170
86type I interferon signaling pathway (GO:0060337)2.84442170
87regulation of interleukin-8 biosynthetic process (GO:0045414)2.83959360
88leukocyte aggregation (GO:0070486)2.83945655
89regulation of gamma-delta T cell activation (GO:0046643)2.82314570
90response to type I interferon (GO:0034340)2.81893657
91regulation of mast cell activation (GO:0033003)2.81831253
92regulation of T-helper 2 cell differentiation (GO:0045628)2.78674682
93leukotriene metabolic process (GO:0006691)2.78139604
94hyaluronan catabolic process (GO:0030214)2.76793467
95regulation of integrin activation (GO:0033623)2.76696238
96leukocyte migration involved in inflammatory response (GO:0002523)2.76537057
97B cell mediated immunity (GO:0019724)2.76055911
98barbed-end actin filament capping (GO:0051016)2.76049895
99negative regulation of interleukin-6 production (GO:0032715)2.75264871
100regulation of mast cell activation involved in immune response (GO:0033006)2.74216356
101response to fungus (GO:0009620)2.72510175
102lipopolysaccharide-mediated signaling pathway (GO:0031663)2.71254568
103regulation of mononuclear cell migration (GO:0071675)2.70883644
104regulation of T cell tolerance induction (GO:0002664)2.70606787
105positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.69540036
106response to thyroid hormone (GO:0097066)2.69334002
107N-acetylneuraminate metabolic process (GO:0006054)2.69288695
108I-kappaB phosphorylation (GO:0007252)2.68759119
109positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.68252435
110* mannose metabolic process (GO:0006013)2.68224544
111leukocyte cell-cell adhesion (GO:0007159)2.66067107
112protein localization to endosome (GO:0036010)2.66005238
113positive regulation of chemokine biosynthetic process (GO:0045080)2.64692307
114response to laminar fluid shear stress (GO:0034616)2.63461225
115tolerance induction (GO:0002507)2.63322596
116regulation of leukocyte degranulation (GO:0043300)2.63263682
117positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.61740340
118antigen processing and presentation via MHC class Ib (GO:0002475)2.61588013
119negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.61297237
120positive thymic T cell selection (GO:0045059)2.60735704
121dendritic cell differentiation (GO:0097028)2.60601894
122myeloid leukocyte activation (GO:0002274)2.60200359
123negative regulation of myeloid cell apoptotic process (GO:0033033)2.59898340
124positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.58884133
125regulation of regulated secretory pathway (GO:1903305)2.58730682
126macrophage differentiation (GO:0030225)2.58729362
127T cell migration (GO:0072678)2.58593830
128regulation of interleukin-2 biosynthetic process (GO:0045076)2.58494352
129low-density lipoprotein particle clearance (GO:0034383)2.58417987
130lipoxygenase pathway (GO:0019372)2.56000541
131keratan sulfate catabolic process (GO:0042340)2.54680692
132positive regulation of phagocytosis (GO:0050766)2.53925856
133neutrophil chemotaxis (GO:0030593)2.53559165
134complement activation (GO:0006956)2.53456851
135positive regulation of chemokine secretion (GO:0090197)2.53121947
136hydrogen peroxide biosynthetic process (GO:0050665)2.49999910
137regulation of myeloid leukocyte mediated immunity (GO:0002886)2.49999093
138defense response to protozoan (GO:0042832)2.49426710
139positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.48927513
140neutrophil migration (GO:1990266)2.48426882
141regulation of macrophage chemotaxis (GO:0010758)2.47863416
142peptidyl-glutamic acid carboxylation (GO:0017187)2.47562850
143protein carboxylation (GO:0018214)2.47562850
144regulation of interleukin-12 biosynthetic process (GO:0045075)2.45805850
145regulation of dendritic cell antigen processing and presentation (GO:0002604)2.45718141
146positive regulation of mast cell degranulation (GO:0043306)2.44883380
147positive regulation of mast cell activation involved in immune response (GO:0033008)2.44883380

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse5.15908289
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.76304217
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.62991416
4* IRF8_27001747_Chip-Seq_BMDM_Mouse3.83103462
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.74430530
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.43806369
7NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.34840466
8MYB_21317192_ChIP-Seq_ERMYB_Mouse2.99744574
9NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.99132541
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.90263625
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.89528311
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.79294309
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.73026770
14Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.69263495
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.61844423
16BRD4_27068464_Chip-Seq_AML-cells_Mouse2.51331424
17SCL_19346495_ChIP-Seq_HPC-7_Human2.46197742
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.45591187
19VDR_21846776_ChIP-Seq_THP-1_Human2.37772181
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.35122135
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.32096067
22RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.27601866
23SPI1_23547873_ChIP-Seq_NB4_Human2.24127810
24STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.14415646
25VDR_24763502_ChIP-Seq_THP-1_Human2.05467477
26RXR_22158963_ChIP-Seq_LIVER_Mouse2.02440575
27PPARA_22158963_ChIP-Seq_LIVER_Mouse1.99384515
28SPI1_23127762_ChIP-Seq_K562_Human1.98378696
29* RUNX1_22412390_ChIP-Seq_EML_Mouse1.91765441
30RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.90976564
31MYC_22102868_ChIP-Seq_BL_Human1.89432081
32MAF_26560356_Chip-Seq_TH1_Human1.88586515
33RUNX_20019798_ChIP-Seq_JUKART_Human1.86125576
34MYB_26560356_Chip-Seq_TH2_Human1.85098410
35STAT4_19710469_ChIP-ChIP_TH1__Mouse1.84936947
36SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.77908038
37GATA1_22025678_ChIP-Seq_K562_Human1.75957893
38E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.74935887
39STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.73549495
40FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.70659890
41PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.70323787
42LXR_22158963_ChIP-Seq_LIVER_Mouse1.68507655
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.65778145
44* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.64088386
45TCF7_22412390_ChIP-Seq_EML_Mouse1.63471231
46PU_27001747_Chip-Seq_BMDM_Mouse1.62805696
47MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.61470649
48MYB_26560356_Chip-Seq_TH1_Human1.61063085
49PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.60890624
50UTX_26944678_Chip-Seq_JUKART_Human1.57496537
51CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.53628236
52STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.51214370
53FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.47912683
54TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45699958
55CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.44287466
56LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.43610466
57ELK3_25401928_ChIP-Seq_HUVEC_Human1.39343920
58STAT6_21828071_ChIP-Seq_BEAS2B_Human1.36482884
59TP63_17297297_ChIP-ChIP_HaCaT_Human1.34474014
60VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.32990748
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.30732776
62VDR_24787735_ChIP-Seq_THP-1_Human1.30005815
63RACK7_27058665_Chip-Seq_MCF-7_Human1.29717617
64GATA1_22383799_ChIP-Seq_G1ME_Mouse1.29687892
65EGR1_23403033_ChIP-Seq_LIVER_Mouse1.29287341
66LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.23603836
67CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22815922
68GATA1_19941827_ChIP-Seq_MEL_Mouse1.22062777
69GATA3_27048872_Chip-Seq_THYMUS_Human1.21742927
70PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.21383513
71CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21034308
72LXR_22292898_ChIP-Seq_THP-1_Human1.20758310
73GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.20079188
74KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19108533
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18322737
76NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.17899067
77TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.16864524
78* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.16822133
79PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16144838
80CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.15439941
81CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.14646887
82FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.14499079
83KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.13933187
84GATA2_21666600_ChIP-Seq_HMVEC_Human1.13840954
85KDM2B_26808549_Chip-Seq_JURKAT_Human1.13754466
86KDM2B_26808549_Chip-Seq_K562_Human1.12803688
87CTCF_27219007_Chip-Seq_ERYTHROID_Human1.11856747
88PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11552009
89KDM2B_26808549_Chip-Seq_DND41_Human1.11366845
90CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.11097392
91BCL6_27268052_Chip-Seq_Bcells_Human1.10439713
92PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08805304
93* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08277372
94* BCOR_27268052_Chip-Seq_Bcells_Human1.08200841
95TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.07105847
96* MAF_26560356_Chip-Seq_TH2_Human1.07010712
97SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06288405
98CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.05782650
99GATA1_19941826_ChIP-Seq_K562_Human1.03767055
100GATA3_26560356_Chip-Seq_TH2_Human1.03703256
101* ELF1_20517297_ChIP-Seq_JURKAT_Human1.02466713
102SA1_27219007_Chip-Seq_ERYTHROID_Human1.00946293
103RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.00814948
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99699990
105ESR2_21235772_ChIP-Seq_MCF-7_Human0.99652616
106TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.98763390
107TFEB_21752829_ChIP-Seq_HELA_Human0.98059631
108* GATA2_19941826_ChIP-Seq_K562_Human0.98028772
109CLOCK_20551151_ChIP-Seq_293T_Human0.95156413
110RARG_19884340_ChIP-ChIP_MEFs_Mouse0.94927772
111SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94675541
112* SPI1_20517297_ChIP-Seq_HL60_Human0.88792569
113SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.85525578
114E2F7_22180533_ChIP-Seq_HELA_Human0.85285789
115NCOR1_26117541_ChIP-Seq_K562_Human0.80637144
116GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.80355860
117KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.79372891

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005058_abnormal_lysosome_morphology3.73542127
2MP0001835_abnormal_antigen_presentation3.65648003
3MP0003436_decreased_susceptibility_to3.36277605
4MP0003303_peritoneal_inflammation3.25382501
5MP0002419_abnormal_innate_immunity2.89890107
6MP0006082_CNS_inflammation2.88454828
7MP0003172_abnormal_lysosome_physiology2.85585463
8MP0003191_abnormal_cellular_cholesterol2.83394485
9MP0009840_abnormal_foam_cell2.77051113
10MP0005000_abnormal_immune_tolerance2.52821789
11MP0005025_abnormal_response_to2.44967893
12MP0001790_abnormal_immune_system2.43143093
13MP0005387_immune_system_phenotype2.43143093
14MP0005464_abnormal_platelet_physiology2.41639805
15MP0002452_abnormal_antigen_presenting2.35013162
16MP0001800_abnormal_humoral_immune2.34619659
17MP0000685_abnormal_immune_system2.33812997
18MP0009785_altered_susceptibility_to2.29444598
19MP0003300_gastrointestinal_ulcer2.29164154
20MP0002148_abnormal_hypersensitivity_rea2.27805340
21MP0003724_increased_susceptibility_to2.22757121
22MP0005671_abnormal_response_to2.20636353
23MP0002723_abnormal_immune_serum2.11215781
24MP0005451_abnormal_body_composition2.06123549
25MP0002420_abnormal_adaptive_immunity2.00630421
26MP0001819_abnormal_immune_cell2.00389233
27MP0001533_abnormal_skeleton_physiology1.99183174
28MP0002405_respiratory_system_inflammati1.75663475
29MP0001845_abnormal_inflammatory_respons1.73525293
30MP0004947_skin_inflammation1.69371783
31MP0008469_abnormal_protein_level1.63793602
32MP0002166_altered_tumor_susceptibility1.62579850
33MP0008260_abnormal_autophagy1.57713666
34MP0003183_abnormal_peptide_metabolism1.56669079
35MP0003075_altered_response_to1.56304160
36MP0003690_abnormal_glial_cell1.55603118
37* MP0000716_abnormal_immune_system1.54423713
38MP0009333_abnormal_splenocyte_physiolog1.53529483
39* MP0000689_abnormal_spleen_morphology1.51827751
40MP0000465_gastrointestinal_hemorrhage1.50863784
41MP0001853_heart_inflammation1.49809535
42MP0009278_abnormal_bone_marrow1.49320778
43MP0000343_altered_response_to1.49100421
44MP0000604_amyloidosis1.48608828
45MP0002398_abnormal_bone_marrow1.46777612
46MP0003828_pulmonary_edema1.42384747
47MP0010155_abnormal_intestine_physiology1.42151908
48MP0005360_urolithiasis1.41788089
49MP0004510_myositis1.39021709
50MP0002722_abnormal_immune_system1.32665260
51MP0002396_abnormal_hematopoietic_system1.31604214
52MP0008438_abnormal_cutaneous_collagen1.31196064
53MP0001873_stomach_inflammation1.31092406
54* MP0002429_abnormal_blood_cell1.29752372
55MP0005310_abnormal_salivary_gland1.29554275
56MP0008004_abnormal_stomach_pH1.29406264
57MP0001851_eye_inflammation1.29266521
58MP0003453_abnormal_keratinocyte_physiol1.27546551
59MP0003566_abnormal_cell_adhesion1.26056773
60MP0005397_hematopoietic_system_phenotyp1.25632262
61MP0001545_abnormal_hematopoietic_system1.25632262
62MP0002933_joint_inflammation1.21486366
63MP0003448_altered_tumor_morphology1.20287868
64MP0009764_decreased_sensitivity_to1.19023987
65MP0002006_tumorigenesis1.18963800
66MP0005166_decreased_susceptibility_to1.17448852
67MP0003705_abnormal_hypodermis_morpholog1.16707701
68MP0005365_abnormal_bile_salt1.13502181
69MP0002139_abnormal_hepatobiliary_system1.12725552
70MP0002998_abnormal_bone_remodeling1.12168871
71MP0003091_abnormal_cell_migration1.11728606
72MP0009763_increased_sensitivity_to1.10331240
73MP0000858_altered_metastatic_potential1.09640353
74MP0000609_abnormal_liver_physiology1.09617438
75MP0010329_abnormal_lipoprotein_level1.08392750
76MP0003329_amyloid_beta_deposits1.06958777
77MP0003656_abnormal_erythrocyte_physiolo1.04707197
78MP0005174_abnormal_tail_pigmentation1.03525059
79MP0002877_abnormal_melanocyte_morpholog1.02192084
80MP0010307_abnormal_tumor_latency0.98757200
81MP0004808_abnormal_hematopoietic_stem0.98374627
82MP0003279_aneurysm0.97990480
83MP0000249_abnormal_blood_vessel0.95156506
84MP0000569_abnormal_digit_pigmentation0.94961532
85MP0003806_abnormal_nucleotide_metabolis0.94801872
86MP0005023_abnormal_wound_healing0.93805728
87MP0004883_abnormal_blood_vessel0.93506991
88MP0003252_abnormal_bile_duct0.93032704
89MP0002136_abnormal_kidney_physiology0.92102913
90MP0002138_abnormal_hepatobiliary_system0.92010872
91MP0002254_reproductive_system_inflammat0.91532482
92MP0006054_spinal_hemorrhage0.91021789
93MP0005167_abnormal_blood-brain_barrier0.89695135
94MP0003763_abnormal_thymus_physiology0.89689425
95MP0001849_ear_inflammation0.88807561
96MP0005076_abnormal_cell_differentiation0.87370463
97MP0005083_abnormal_biliary_tract0.87264649
98MP0000490_abnormal_crypts_of0.84393566
99MP0008875_abnormal_xenobiotic_pharmacok0.82766924
100* MP0009643_abnormal_urine_homeostasis0.80667863
101MP0005085_abnormal_gallbladder_physiolo0.80346370
102* MP0000598_abnormal_liver_morphology0.80082073
103MP0001958_emphysema0.79997134
104MP0000920_abnormal_myelination0.79834315
105MP0001663_abnormal_digestive_system0.79440340
106MP0005319_abnormal_enzyme/_coenzyme0.79215953
107* MP0005390_skeleton_phenotype0.78184027
108MP0003866_abnormal_defecation0.76272313
109MP0005584_abnormal_enzyme/coenzyme_acti0.75595243
110MP0003045_fibrosis0.74057801
111MP0005670_abnormal_white_adipose0.72868626
112MP0000371_diluted_coat_color0.72297498
113MP0005164_abnormal_response_to0.71356839
114MP0003795_abnormal_bone_structure0.70653685
115MP0008873_increased_physiological_sensi0.69349119
116MP0001542_abnormal_bone_strength0.69212835
117MP0005165_increased_susceptibility_to0.68569533
118MP0000703_abnormal_thymus_morphology0.68428511
119MP0000767_abnormal_smooth_muscle0.68407109
120MP0008874_decreased_physiological_sensi0.64660762
121MP0009765_abnormal_xenobiotic_induced0.61085132
122MP0004858_abnormal_nervous_system0.57257660

Predicted human phenotypes

RankGene SetZ-score
1Systemic lupus erythematosus (HP:0002725)6.70505653
2Recurrent abscess formation (HP:0002722)5.75674535
3Eczematoid dermatitis (HP:0000976)5.34804823
4Recurrent gram-negative bacterial infections (HP:0005420)5.16594605
5Recurrent bacterial skin infections (HP:0005406)5.16298176
6Glomerulonephritis (HP:0000099)4.93225062
7Increased cerebral lipofuscin (HP:0011813)4.89627360
8Complement deficiency (HP:0004431)4.34043654
9Increased neuronal autofluorescent lipopigment (HP:0002074)4.26943538
10* Dysostosis multiplex (HP:0000943)4.25182343
11Mucopolysacchariduria (HP:0008155)4.18566707
12Urinary glycosaminoglycan excretion (HP:0003541)4.18566707
13* Vacuolated lymphocytes (HP:0001922)4.14833336
14Abnormality of macrophages (HP:0004311)4.06783375
15Abnormality of liposaccharide metabolism (HP:0010968)4.05155718
16Abnormality of glycosphingolipid metabolism (HP:0004343)4.05155718
17Abnormality of glycolipid metabolism (HP:0010969)4.05155718
18Abnormality of mucopolysaccharide metabolism (HP:0011020)3.96149481
19Abnormality of polysaccharide metabolism (HP:0011012)3.96149481
20Abnormality of glycosaminoglycan metabolism (HP:0004371)3.96149481
21Abnormality of complement system (HP:0005339)3.94124946
22Recurrent skin infections (HP:0001581)3.39985477
23Loss of speech (HP:0002371)3.25758591
24Recurrent fungal infections (HP:0002841)3.17202551
25Axonal loss (HP:0003447)3.11200355
26Retrobulbar optic neuritis (HP:0100654)3.05610053
27Optic neuritis (HP:0100653)3.05610053
28Gingivitis (HP:0000230)3.05243186
29Nephritis (HP:0000123)3.04657886
30Elevated erythrocyte sedimentation rate (HP:0003565)2.97202685
31Spontaneous hematomas (HP:0007420)2.96561113
32Myositis (HP:0100614)2.93008380
33Recurrent viral infections (HP:0004429)2.91336109
34Pustule (HP:0200039)2.91291235
35Mediastinal lymphadenopathy (HP:0100721)2.90468672
36Disinhibition (HP:0000734)2.89705249
37Chronic obstructive pulmonary disease (HP:0006510)2.89098912
38Obstructive lung disease (HP:0006536)2.89098912
39Autoimmune thrombocytopenia (HP:0001973)2.83386945
40Myocardial infarction (HP:0001658)2.82640447
41Joint hemorrhage (HP:0005261)2.73343255
42Colitis (HP:0002583)2.70928319
43Cellulitis (HP:0100658)2.70248612
44Periodontitis (HP:0000704)2.65936380
45Hematochezia (HP:0002573)2.64135962
46Inflammation of the large intestine (HP:0002037)2.60038407
47Mutism (HP:0002300)2.60002694
48IgM deficiency (HP:0002850)2.53148351
49Interstitial pulmonary disease (HP:0006530)2.52059225
50Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.51641637
51Increased IgE level (HP:0003212)2.51107629
52Neurofibrillary tangles (HP:0002185)2.50944874
53Increased serum ferritin (HP:0003281)2.50482561
54Gastrointestinal inflammation (HP:0004386)2.47198438
55Hepatosplenomegaly (HP:0001433)2.43430498
56Chronic otitis media (HP:0000389)2.42242507
57Gingival bleeding (HP:0000225)2.42099798
58Cerebral aneurysm (HP:0004944)2.38998418
59Petechiae (HP:0000967)2.38705405
60Epistaxis (HP:0000421)2.37343342
61Prolonged bleeding time (HP:0003010)2.34493677
62J-shaped sella turcica (HP:0002680)2.34282906
63Neuronal loss in central nervous system (HP:0002529)2.34071153
64Hemoptysis (HP:0002105)2.31317435
65Nuclear cataract (HP:0100018)2.30254141
66Impaired platelet aggregation (HP:0003540)2.29809878
67Abnormal platelet function (HP:0011869)2.29809878
68Chronic mucocutaneous candidiasis (HP:0002728)2.29020796
69Recurrent cutaneous fungal infections (HP:0011370)2.29020796
70Urticaria (HP:0001025)2.28858494
71Asymmetric septal hypertrophy (HP:0001670)2.28601701
72Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.28300033
73Meningitis (HP:0001287)2.27818744
74Abnormality of the vasculature of the conjunctiva (HP:0008054)2.26882672
75Agnosia (HP:0010524)2.21971814
76Orchitis (HP:0100796)2.19276338
77Vasculitis (HP:0002633)2.18446788
78Pathologic fracture (HP:0002756)2.18259512
79Gastrointestinal infarctions (HP:0005244)2.18227500
80Nasal polyposis (HP:0100582)2.17827431
81Osteomyelitis (HP:0002754)2.16997248
82Abnormality of the nasal mucosa (HP:0000433)2.16629492
83Apathy (HP:0000741)2.15478693
84Diminished motivation (HP:0000745)2.15035843
85Keratoconjunctivitis sicca (HP:0001097)2.14685705
86Menorrhagia (HP:0000132)2.13236915
87Upper motor neuron abnormality (HP:0002127)2.12331656
88Gastrointestinal stroma tumor (HP:0100723)2.12055757
89Vertebral compression fractures (HP:0002953)2.09449843
90Osteolytic defects of the hand bones (HP:0009699)2.07034826
91Osteolytic defects of the phalanges of the hand (HP:0009771)2.07034826
92Restrictive lung disease (HP:0002091)2.05939575
93Deep venous thrombosis (HP:0002625)2.05440035
94Cervical subluxation (HP:0003308)2.04981578
95Purpura (HP:0000979)2.04740606
96Encephalitis (HP:0002383)2.04423450
97Progressive neurologic deterioration (HP:0002344)2.03468642
98Leukocytosis (HP:0001974)2.01455043
99Stomatitis (HP:0010280)2.00122066
100Joint stiffness (HP:0001387)1.98976250
101Cerebral inclusion bodies (HP:0100314)1.98841846
102Arterial thrombosis (HP:0004420)1.98737539
103Abnormality of iron homeostasis (HP:0011031)1.98137908
104Malnutrition (HP:0004395)1.98127654
105Thrombocytosis (HP:0001894)1.97156368
106Premature loss of primary teeth (HP:0006323)1.94906258
107Personality changes (HP:0000751)1.93380256
108Retinal atrophy (HP:0001105)1.93202085
109Abnormality of the common coagulation pathway (HP:0010990)1.93017221
110Xanthomatosis (HP:0000991)1.91572883
111Chest pain (HP:0100749)1.91498657
112Bone pain (HP:0002653)1.89569734
113Hypergammaglobulinemia (HP:0010702)1.88572438
114Keratoconjunctivitis (HP:0001096)1.88308939
115Arterial tortuosity (HP:0005116)1.87676512
116T lymphocytopenia (HP:0005403)1.87386134
117Abnormal delayed hypersensitivity skin test (HP:0002963)1.86851342
118Polygenic inheritance (HP:0010982)1.86302344
119Conjunctival telangiectasia (HP:0000524)1.85075716
120Basal ganglia calcification (HP:0002135)1.82798014
121Thin bony cortex (HP:0002753)1.82275068
122Amyloidosis (HP:0011034)1.81856845
123Peritonitis (HP:0002586)1.81422184
124Acrocyanosis (HP:0001063)1.81270920
125Polyneuropathy (HP:0001271)1.80415495
126Esophageal varix (HP:0002040)1.79518852
127Pulmonary infiltrates (HP:0002113)1.75798417
128Deformed sella turcica (HP:0002681)1.74954699
129Ovoid vertebral bodies (HP:0003300)1.74355367
130Pulmonary embolism (HP:0002204)1.74280300
131Abnormal platelet volume (HP:0011876)1.72837338

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK3.68041714
2MAP4K13.63034090
3TGFBR23.52605932
4ERN13.44459933
5PRPF4B3.21306183
6TYK22.96124598
7IRAK42.66917800
8KIT2.51489054
9CSF1R2.42139976
10TAOK32.41831464
11TBK12.38863851
12RIPK42.36808860
13TRIB32.21979342
14ZAP702.02567031
15STK101.90514614
16IRAK31.88572607
17EPHB11.83664815
18PKN21.82464874
19MAP2K31.81804602
20CSK1.77562313
21CAMK1D1.77396127
22TAOK21.77068478
23JAK11.70220081
24BTK1.68075805
25JAK31.62432793
26MAP3K141.61875852
27FES1.60461990
28HCK1.48595026
29TAOK11.47182440
30CDC42BPA1.40274036
31DDR21.38459076
32IKBKE1.37890281
33SYK1.36960784
34EEF2K1.36351538
35IKBKB1.30025379
36TEC1.29266453
37MST1R1.29007263
38LRRK21.27909156
39ITK1.27835572
40SMG11.27125233
41GRK61.24807173
42LCK1.22944420
43TXK1.21355564
44FGFR41.20167730
45CAMK1G1.19139656
46PTK61.18295761
47TTN1.16394743
48MAP3K11.15801648
49MAP3K131.13905335
50JAK21.13019039
51NEK91.12575259
52LYN1.11656568
53RIPK11.10294504
54ICK1.10280645
55TNK21.09554917
56FGR1.04225079
57PAK41.03833440
58SCYL21.01023719
59MATK1.00603639
60CLK10.98610984
61MAP3K100.98219654
62FLT30.92239770
63SIK30.89597571
64KDR0.88589576
65GRK70.87709119
66RPS6KA40.86472851
67NME20.80548250
68MAP3K30.79899485
69PIM20.79281129
70SIK20.79013484
71IRAK20.78761603
72TRPM70.77697173
73MARK20.75105923
74PIM10.71887937
75PRKD20.71857116
76MAPK70.71557498
77MAP3K110.67533908
78CDK60.67150816
79SIK10.66720095
80BMPR20.64678970
81KSR20.64277673
82FGFR30.62194043
83BMX0.62126910
84EGFR0.61450810
85ARAF0.60985183
86IRAK10.59346491
87TESK20.58490290
88CHUK0.57840384
89PIK3CG0.57448927
90ABL20.57134252
91HIPK20.55049201
92CAMKK20.53791372
93MARK30.53168353
94MAPKAPK30.52736101
95TESK10.51843074
96PDGFRA0.49384001
97ABL10.48847811
98PDK10.48502983
99BCKDK0.47643363
100MAP3K50.46126149
101MAPK120.45760171
102PRKCH0.45528525
103CDK120.44946056
104IGF1R0.44078089
105MAPK150.43692335
106MAPKAPK20.43577669
107MAPK110.43075042
108PRKCD0.42741234
109FYN0.41359291
110RPS6KA60.40611979
111PDPK10.40291338
112CAMKK10.39158118
113STK40.38415161
114MAPK40.36467696
115MAP3K80.34914029
116MOS0.34762625
117PRKCQ0.34760796
118RPS6KL10.32584569
119RPS6KC10.32584569
120RPS6KA20.30170641
121CDK40.28366653
122EPHA30.28006771
123MAP3K60.27044737

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051505.07060674
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.98493583
3* Other glycan degradation_Homo sapiens_hsa005113.32738970
4* Lysosome_Homo sapiens_hsa041422.99697889
5Leishmaniasis_Homo sapiens_hsa051402.89404185
6Complement and coagulation cascades_Homo sapiens_hsa046102.57632973
7Osteoclast differentiation_Homo sapiens_hsa043802.37014829
8Pertussis_Homo sapiens_hsa051332.29085984
9Autoimmune thyroid disease_Homo sapiens_hsa053202.05580046
10B cell receptor signaling pathway_Homo sapiens_hsa046621.94578248
11Toll-like receptor signaling pathway_Homo sapiens_hsa046201.89828249
12Tuberculosis_Homo sapiens_hsa051521.81811965
13Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.80225328
14Caffeine metabolism_Homo sapiens_hsa002321.78486037
15Antigen processing and presentation_Homo sapiens_hsa046121.77897901
16Malaria_Homo sapiens_hsa051441.73087839
17Legionellosis_Homo sapiens_hsa051341.62390965
18NF-kappa B signaling pathway_Homo sapiens_hsa040641.61815727
19Type I diabetes mellitus_Homo sapiens_hsa049401.56606707
20Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.55007079
21Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.48040304
22Hematopoietic cell lineage_Homo sapiens_hsa046401.47958454
23Measles_Homo sapiens_hsa051621.45176350
24Phagosome_Homo sapiens_hsa041451.41997817
25Pentose and glucuronate interconversions_Homo sapiens_hsa000401.39599660
26Toxoplasmosis_Homo sapiens_hsa051451.36961831
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.35754037
28Primary immunodeficiency_Homo sapiens_hsa053401.31244593
29Intestinal immune network for IgA production_Homo sapiens_hsa046721.30067085
30Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.27588010
31Nitrogen metabolism_Homo sapiens_hsa009101.25436120
32Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.22001008
33Leukocyte transendothelial migration_Homo sapiens_hsa046701.17840817
34RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.17431076
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.17231558
36Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.14772620
37Primary bile acid biosynthesis_Homo sapiens_hsa001201.14491615
38Shigellosis_Homo sapiens_hsa051311.08800135
39Influenza A_Homo sapiens_hsa051641.08350315
40Chemokine signaling pathway_Homo sapiens_hsa040621.06862853
41Salmonella infection_Homo sapiens_hsa051321.06036413
42NOD-like receptor signaling pathway_Homo sapiens_hsa046211.04259935
43Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.03779117
44Apoptosis_Homo sapiens_hsa042101.02587720
45Jak-STAT signaling pathway_Homo sapiens_hsa046300.97814147
46ABC transporters_Homo sapiens_hsa020100.96575224
47Prion diseases_Homo sapiens_hsa050200.93704173
48Rheumatoid arthritis_Homo sapiens_hsa053230.90758405
49Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90257448
50Bladder cancer_Homo sapiens_hsa052190.90185431
51VEGF signaling pathway_Homo sapiens_hsa043700.87034862
52Platelet activation_Homo sapiens_hsa046110.86839725
53Herpes simplex infection_Homo sapiens_hsa051680.83888837
54TNF signaling pathway_Homo sapiens_hsa046680.83180611
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.82469518
56Acute myeloid leukemia_Homo sapiens_hsa052210.81319124
57Hepatitis B_Homo sapiens_hsa051610.80074503
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79386776
59Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.79103490
60Chronic myeloid leukemia_Homo sapiens_hsa052200.78964888
61Amoebiasis_Homo sapiens_hsa051460.76355435
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73503743
63Pancreatic cancer_Homo sapiens_hsa052120.73072382
64Prolactin signaling pathway_Homo sapiens_hsa049170.72382846
65Asthma_Homo sapiens_hsa053100.71341552
66T cell receptor signaling pathway_Homo sapiens_hsa046600.71179916
67Histidine metabolism_Homo sapiens_hsa003400.70757123
68Non-small cell lung cancer_Homo sapiens_hsa052230.69928080
69Hepatitis C_Homo sapiens_hsa051600.68171802
70Graft-versus-host disease_Homo sapiens_hsa053320.67954514
71Epstein-Barr virus infection_Homo sapiens_hsa051690.66021919
72PPAR signaling pathway_Homo sapiens_hsa033200.64966650
73Renin-angiotensin system_Homo sapiens_hsa046140.63828177
74Viral myocarditis_Homo sapiens_hsa054160.62471926
75Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57083724
76Renal cell carcinoma_Homo sapiens_hsa052110.56674888
77HTLV-I infection_Homo sapiens_hsa051660.56628154
78Allograft rejection_Homo sapiens_hsa053300.56570753
79Starch and sucrose metabolism_Homo sapiens_hsa005000.56121396
80Pentose phosphate pathway_Homo sapiens_hsa000300.54225998
81Arginine biosynthesis_Homo sapiens_hsa002200.52616480
82Fatty acid degradation_Homo sapiens_hsa000710.51699867
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.50320290
84Collecting duct acid secretion_Homo sapiens_hsa049660.49827364
85HIF-1 signaling pathway_Homo sapiens_hsa040660.49600812
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48241626
87Drug metabolism - other enzymes_Homo sapiens_hsa009830.47781922
88Viral carcinogenesis_Homo sapiens_hsa052030.47769176
89Lysine degradation_Homo sapiens_hsa003100.47412061
90GnRH signaling pathway_Homo sapiens_hsa049120.46953501
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.45843091
92Fructose and mannose metabolism_Homo sapiens_hsa000510.45640768
93Insulin resistance_Homo sapiens_hsa049310.44549808
94Vibrio cholerae infection_Homo sapiens_hsa051100.44501358
95Adipocytokine signaling pathway_Homo sapiens_hsa049200.43896167
96Endocytosis_Homo sapiens_hsa041440.43790182
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.43719045
98Peroxisome_Homo sapiens_hsa041460.41714547
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.41385259
100Tryptophan metabolism_Homo sapiens_hsa003800.40823929
101African trypanosomiasis_Homo sapiens_hsa051430.40139359
102N-Glycan biosynthesis_Homo sapiens_hsa005100.40067631
103Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.39467891
104mTOR signaling pathway_Homo sapiens_hsa041500.38687335
105Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38479375
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.37987909
107Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37775394
108Sphingolipid metabolism_Homo sapiens_hsa006000.37011107
109Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35739545
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.35205510
111Small cell lung cancer_Homo sapiens_hsa052220.35195243
112beta-Alanine metabolism_Homo sapiens_hsa004100.34017059
113Type II diabetes mellitus_Homo sapiens_hsa049300.33759844
114Systemic lupus erythematosus_Homo sapiens_hsa053220.32889912
115Arachidonic acid metabolism_Homo sapiens_hsa005900.32830415
116Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32329977
117Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.32204296
118Endometrial cancer_Homo sapiens_hsa052130.30078127
119Galactose metabolism_Homo sapiens_hsa000520.29369822
120Sphingolipid signaling pathway_Homo sapiens_hsa040710.28960313
121Central carbon metabolism in cancer_Homo sapiens_hsa052300.28754037
122Sulfur relay system_Homo sapiens_hsa041220.28734662
123SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25683635
124Notch signaling pathway_Homo sapiens_hsa043300.25526485
125Proteoglycans in cancer_Homo sapiens_hsa052050.24852993

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