TLR2

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: The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the host's inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.96308148
2* modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.96308148
3* positive regulation by organism of defense response of other organism involved in symbiotic interact6.96308148
4* modulation by symbiont of host immune response (GO:0052553)6.96308148
5* positive regulation by symbiont of host defense response (GO:0052509)6.96308148
6* modulation by symbiont of host defense response (GO:0052031)6.96308148
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.82258170
8regulation of interferon-beta biosynthetic process (GO:0045357)5.58064901
9* response to peptidoglycan (GO:0032494)5.48655838
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.47839202
11negative regulation of cell killing (GO:0031342)5.47839202
12positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.46803284
13neutrophil activation involved in immune response (GO:0002283)5.44747651
14* macrophage activation involved in immune response (GO:0002281)5.20761081
15positive regulation of interferon-alpha production (GO:0032727)5.06927545
16regulation of interferon-alpha production (GO:0032647)4.87401313
17* negative regulation of interleukin-12 production (GO:0032695)4.85715678
18positive regulation of chemokine biosynthetic process (GO:0045080)4.68737385
19* response to host immune response (GO:0052572)4.46600589
20* response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.46600589
21immunoglobulin mediated immune response (GO:0016064)4.36639439
22detection of bacterium (GO:0016045)4.31558095
23* lipopolysaccharide-mediated signaling pathway (GO:0031663)4.25851869
24response to muramyl dipeptide (GO:0032495)4.24974793
25respiratory burst (GO:0045730)4.22101892
26positive regulation of heat generation (GO:0031652)4.16255396
27positive regulation of cellular amide metabolic process (GO:0034250)4.15183167
28* detection of external biotic stimulus (GO:0098581)4.12124271
29antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.10851484
30* microglial cell activation (GO:0001774)4.08415995
31antigen processing and presentation of endogenous antigen (GO:0019883)4.07879939
32hydrogen peroxide biosynthetic process (GO:0050665)4.02201714
33positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.00633968
34regulation of gamma-delta T cell activation (GO:0046643)3.99109818
35* response to host (GO:0075136)3.96943076
36* response to host defenses (GO:0052200)3.96943076
37* response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.96943076
38granulocyte activation (GO:0036230)3.93365662
39regulation of fever generation (GO:0031620)3.88527328
40regulation of interleukin-8 biosynthetic process (GO:0045414)3.85453297
41production of molecular mediator involved in inflammatory response (GO:0002532)3.81800788
42regulation of chemokine biosynthetic process (GO:0045073)3.76592273
43* macrophage activation (GO:0042116)3.72406168
44antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.70463359
45neutrophil activation (GO:0042119)3.70392314
46* detection of biotic stimulus (GO:0009595)3.70260003
47negative regulation of lymphocyte mediated immunity (GO:0002707)3.63231897
48reactive oxygen species biosynthetic process (GO:1903409)3.57757949
49superoxide anion generation (GO:0042554)3.57615039
50* myeloid cell activation involved in immune response (GO:0002275)3.57409137
51positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.54417722
52leukocyte aggregation (GO:0070486)3.52773473
53regulation of mononuclear cell migration (GO:0071675)3.51977598
54positive regulation of mast cell activation involved in immune response (GO:0033008)3.51093943
55positive regulation of mast cell degranulation (GO:0043306)3.51093943
56negative regulation of T cell mediated immunity (GO:0002710)3.48071338
57positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.46195968
58positive regulation of mast cell activation (GO:0033005)3.43137279
59germinal center formation (GO:0002467)3.42848385
60negative regulation of lipid storage (GO:0010888)3.42377427
61regulation of myeloid leukocyte mediated immunity (GO:0002886)3.40480331
62* positive regulation of interferon-beta production (GO:0032728)3.40452264
63defense response to protozoan (GO:0042832)3.39283325
64regulation of cholesterol storage (GO:0010885)3.35451905
65positive regulation of antigen processing and presentation (GO:0002579)3.32642244
66regulation of T-helper 2 cell differentiation (GO:0045628)3.32502044
67myeloid leukocyte mediated immunity (GO:0002444)3.30078974
68negative regulation of leukocyte mediated immunity (GO:0002704)3.29054340
69regulation of mast cell degranulation (GO:0043304)3.27155541
70regulation of leukocyte degranulation (GO:0043300)3.26787829
71cellular extravasation (GO:0045123)3.24247963
72positive regulation of gamma-delta T cell activation (GO:0046645)3.22026011
73* positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.21519741
74leukocyte migration involved in inflammatory response (GO:0002523)3.20274739
75regulation of tolerance induction (GO:0002643)3.19793220
76negative regulation of cytokine production involved in immune response (GO:0002719)3.18773821
77B cell mediated immunity (GO:0019724)3.18026801
78neutrophil mediated immunity (GO:0002446)3.15799519
79response to protozoan (GO:0001562)3.15129023
80regulation of heat generation (GO:0031650)3.13076689
81type I interferon signaling pathway (GO:0060337)3.11076447
82cellular response to type I interferon (GO:0071357)3.11076447
83regulation of T cell tolerance induction (GO:0002664)3.10060178
84cytokine secretion (GO:0050663)3.09547236
85negative regulation of erythrocyte differentiation (GO:0045647)3.08648837
86monocyte chemotaxis (GO:0002548)3.08195900
87regulation of interleukin-12 biosynthetic process (GO:0045075)3.07946162
88response to type I interferon (GO:0034340)3.07390716
89regulation of gamma-delta T cell differentiation (GO:0045586)3.06551758
90positive regulation of leukocyte degranulation (GO:0043302)3.05652497
91interferon-gamma-mediated signaling pathway (GO:0060333)3.05420657
92regulation of mast cell activation involved in immune response (GO:0033006)3.05093046
93* positive regulation of chemokine production (GO:0032722)3.04168576
94regulation of B cell receptor signaling pathway (GO:0050855)3.02502947
95regulation of mast cell activation (GO:0033003)3.02190713
96regulation of podosome assembly (GO:0071801)3.02020014
97* detection of molecule of bacterial origin (GO:0032490)3.00714259
98negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.00206038
99* regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.00022916
100detection of other organism (GO:0098543)2.97804325
101positive regulation of type 2 immune response (GO:0002830)2.97628829
102T-helper 1 type immune response (GO:0042088)2.96867353
103lymphocyte chemotaxis (GO:0048247)2.96719338
104response to interleukin-15 (GO:0070672)2.96264123
105regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.95603513
106positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.94524235
107regulation of dendritic cell antigen processing and presentation (GO:0002604)2.94461733
108positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.91590934
109regulation of heterotypic cell-cell adhesion (GO:0034114)2.91065677
110regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.90406772
111leukocyte cell-cell adhesion (GO:0007159)2.89750947
112response to interferon-alpha (GO:0035455)2.88594040
113positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.88299414
114cell adhesion mediated by integrin (GO:0033627)2.88272264
115leukocyte degranulation (GO:0043299)2.88107591
116negative regulation of interleukin-6 production (GO:0032715)2.86681248
117modulation by symbiont of host cellular process (GO:0044068)2.86486460
118neutrophil chemotaxis (GO:0030593)2.86406184
119apoptotic cell clearance (GO:0043277)2.86251587
120positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.85692841
121* positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.84236977
122leukocyte mediated cytotoxicity (GO:0001909)2.82875683
123regulation of interleukin-6 biosynthetic process (GO:0045408)2.82797012
124natural killer cell mediated cytotoxicity (GO:0042267)2.82598183
125natural killer cell mediated immunity (GO:0002228)2.82598183
126cellular response to exogenous dsRNA (GO:0071360)2.81990615
127T cell migration (GO:0072678)2.80750019
128* cellular response to lipopolysaccharide (GO:0071222)2.80525984
129* regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.80399639
130* positive regulation of interleukin-6 production (GO:0032755)2.79962429
131* positive regulation of NF-kappaB import into nucleus (GO:0042346)2.79859501
132regulation of T-helper 1 cell differentiation (GO:0045625)2.79414184
133negative regulation of viral genome replication (GO:0045071)2.79163140
134positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.79084386
135regulation of antigen processing and presentation (GO:0002577)2.78826253
136neutrophil migration (GO:1990266)2.78078182
137* cellular response to molecule of bacterial origin (GO:0071219)2.78027959
138* myeloid leukocyte activation (GO:0002274)2.77881788
139regulation of regulated secretory pathway (GO:1903305)2.77287033
140granulocyte chemotaxis (GO:0071621)2.75451154
141regulation of type 2 immune response (GO:0002828)2.75400775
142antigen processing and presentation via MHC class Ib (GO:0002475)2.74534622

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse6.92427379
2BP1_19119308_ChIP-ChIP_Hs578T_Human6.88611617
3IRF8_22096565_ChIP-ChIP_GC-B_Human6.45076771
4IRF8_27001747_Chip-Seq_BMDM_Mouse4.61028807
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.46838975
6* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.94649093
7Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.88695474
8IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.56047325
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.54251012
10EGR1_19374776_ChIP-ChIP_THP-1_Human3.35171100
11MYB_21317192_ChIP-Seq_ERMYB_Mouse3.25087555
12* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.20007088
13* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.15641339
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.12701859
15STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.95193758
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.69671578
17NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.66258315
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.45233467
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.42405422
20STAT4_19710469_ChIP-ChIP_TH1__Mouse2.31827124
21* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.28084268
22PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.22786478
23SPI1_23547873_ChIP-Seq_NB4_Human2.07112325
24PU_27001747_Chip-Seq_BMDM_Mouse1.87621581
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.87130012
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.85004804
27VDR_24787735_ChIP-Seq_THP-1_Human1.84330969
28SCL_19346495_ChIP-Seq_HPC-7_Human1.76606893
29PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.76401292
30CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.76163371
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.74296243
32SPI1_23127762_ChIP-Seq_K562_Human1.72095640
33* VDR_24763502_ChIP-Seq_THP-1_Human1.71783123
34CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.67871743
35RUNX_20019798_ChIP-Seq_JUKART_Human1.67852554
36TP63_17297297_ChIP-ChIP_HaCaT_Human1.66445593
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.65766953
38ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.60484921
39RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.59527684
40RUNX1_22412390_ChIP-Seq_EML_Mouse1.54559013
41GATA1_22025678_ChIP-Seq_K562_Human1.48903052
42MYB_26560356_Chip-Seq_TH2_Human1.47739266
43GATA1_19941827_ChIP-Seq_MEL_Mouse1.47342868
44MYC_22102868_ChIP-Seq_BL_Human1.42590393
45GATA2_21666600_ChIP-Seq_HMVEC_Human1.42082649
46FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.39924461
47CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.38778929
48KDM2B_26808549_Chip-Seq_DND41_Human1.37264934
49CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.37103222
50MAF_26560356_Chip-Seq_TH1_Human1.32648226
51STAT6_21828071_ChIP-Seq_BEAS2B_Human1.32346248
52MAF_26560356_Chip-Seq_TH2_Human1.32212501
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.30950952
54VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.30014036
55NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.27705787
56PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25880592
57KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.25467683
58MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.25181289
59* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.24427472
60TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23517664
61MYB_26560356_Chip-Seq_TH1_Human1.19873961
62PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18550958
63SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17381063
64E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.17281378
65KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.15422685
66GATA3_26560356_Chip-Seq_TH2_Human1.15071358
67LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.12626186
68SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.08322632
69GATA3_27048872_Chip-Seq_THYMUS_Human1.07678632
70* VDR_21846776_ChIP-Seq_THP-1_Human1.02963974
71GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.02169361
72VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.01306045
73GATA2_22383799_ChIP-Seq_G1ME_Mouse1.00682796
74FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.99098807
75UTX_26944678_Chip-Seq_JUKART_Human0.96477287
76TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.96461654
77SOX2_20726797_ChIP-Seq_SW620_Human0.96452317
78SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95053541
79TRIM28_21343339_ChIP-Seq_HEK293_Human0.94572282
80SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.93980491
81LXR_22292898_ChIP-Seq_THP-1_Human0.92205868
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.91600656
83KDM2B_26808549_Chip-Seq_JURKAT_Human0.88583048
84TCF7_22412390_ChIP-Seq_EML_Mouse0.88494249
85PU.1_20513432_ChIP-Seq_Bcells_Mouse0.88375462
86LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.86486419
87TFEB_21752829_ChIP-Seq_HELA_Human0.86303084
88NRF2_20460467_ChIP-Seq_MEFs_Mouse0.85825208
89NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.85825208
90ELK3_25401928_ChIP-Seq_HUVEC_Human0.85763231
91CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.84837562
92GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.84086411
93* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83861684
94SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.83062330
95* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.82651330
96ESR1_21235772_ChIP-Seq_MCF-7_Human0.81557149
97SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.81153060
98SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.81153060
99GATA1_19941827_ChIP-Seq_MEL86_Mouse0.80304026
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.79963747
101GATA2_19941826_ChIP-Seq_K562_Human0.79557957
102CJUN_26792858_Chip-Seq_BT549_Human0.78383270
103RARG_19884340_ChIP-ChIP_MEFs_Mouse0.75730220
104KDM2B_26808549_Chip-Seq_SUP-B15_Human0.74455496
105* BCL6_27268052_Chip-Seq_Bcells_Human0.74280185
106GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74146627
107RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73538952
108TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.73174859
109NCOR1_26117541_ChIP-Seq_K562_Human0.72950823
110GATA1_19941826_ChIP-Seq_K562_Human0.71851046
111GATA1_22383799_ChIP-Seq_G1ME_Mouse0.71570095
112FOXO3_23340844_ChIP-Seq_DLD1_Human0.71281991
113SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.70114045
114FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.69168483
115* BCOR_27268052_Chip-Seq_Bcells_Human0.68899449
116EGR1_19032775_ChIP-ChIP_M12_Human0.68066715
117BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.67662136
118STAT1_20625510_ChIP-Seq_HELA_Human0.67508689
119SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66736332
120SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.66046098
121P63_26484246_Chip-Seq_KERATINOCYTES_Human0.65365265
122IKZF1_21737484_ChIP-ChIP_HCT116_Human0.63440607

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003436_decreased_susceptibility_to4.25338271
2MP0003303_peritoneal_inflammation3.92594346
3MP0001835_abnormal_antigen_presentation3.91522311
4* MP0009785_altered_susceptibility_to3.61985310
5MP0006082_CNS_inflammation3.42652706
6MP0002148_abnormal_hypersensitivity_rea3.39608678
7MP0005058_abnormal_lysosome_morphology3.35283558
8* MP0002419_abnormal_innate_immunity3.34644397
9MP0003724_increased_susceptibility_to3.33584113
10MP0005000_abnormal_immune_tolerance3.18648233
11* MP0005025_abnormal_response_to2.80839114
12MP0001790_abnormal_immune_system2.62809082
13MP0005387_immune_system_phenotype2.62809082
14MP0004510_myositis2.58654499
15* MP0002452_abnormal_antigen_presenting2.55516093
16MP0003172_abnormal_lysosome_physiology2.49627197
17MP0001533_abnormal_skeleton_physiology2.38955264
18* MP0002723_abnormal_immune_serum2.38423883
19MP0003191_abnormal_cellular_cholesterol2.29236903
20* MP0001800_abnormal_humoral_immune2.26550766
21MP0005464_abnormal_platelet_physiology2.17815971
22MP0000685_abnormal_immune_system2.14835637
23MP0009278_abnormal_bone_marrow2.12393296
24* MP0001819_abnormal_immune_cell2.06329720
25MP0005167_abnormal_blood-brain_barrier2.03744376
26* MP0002420_abnormal_adaptive_immunity2.03207292
27MP0004947_skin_inflammation2.01436389
28MP0000343_altered_response_to2.00005582
29MP0003448_altered_tumor_morphology1.98608148
30MP0009840_abnormal_foam_cell1.97018086
31MP0005671_abnormal_response_to1.95933426
32MP0001845_abnormal_inflammatory_respons1.88411262
33* MP0008469_abnormal_protein_level1.75584752
34MP0002405_respiratory_system_inflammati1.74225622
35MP0000604_amyloidosis1.72373998
36MP0003300_gastrointestinal_ulcer1.71323583
37* MP0009764_decreased_sensitivity_to1.70322651
38MP0005451_abnormal_body_composition1.66323860
39* MP0003075_altered_response_to1.63829022
40MP0001853_heart_inflammation1.62428185
41MP0002998_abnormal_bone_remodeling1.58975564
42MP0010155_abnormal_intestine_physiology1.55481966
43MP0003828_pulmonary_edema1.49944284
44MP0003690_abnormal_glial_cell1.46427331
45MP0000858_altered_metastatic_potential1.40821110
46MP0003183_abnormal_peptide_metabolism1.39571762
47MP0003763_abnormal_thymus_physiology1.38268336
48MP0005076_abnormal_cell_differentiation1.38164422
49MP0001545_abnormal_hematopoietic_system1.38060765
50MP0005397_hematopoietic_system_phenotyp1.38060765
51* MP0000716_abnormal_immune_system1.37416247
52MP0002006_tumorigenesis1.37390731
53MP0002254_reproductive_system_inflammat1.33507516
54MP0008004_abnormal_stomach_pH1.29903902
55MP0005164_abnormal_response_to1.29126951
56MP0009333_abnormal_splenocyte_physiolog1.28046684
57MP0005310_abnormal_salivary_gland1.26570741
58MP0002132_abnormal_respiratory_system1.24524401
59MP0002398_abnormal_bone_marrow1.21812376
60MP0005390_skeleton_phenotype1.19801215
61* MP0005166_decreased_susceptibility_to1.18963556
62MP0003195_calcinosis1.13025674
63MP0002277_abnormal_respiratory_mucosa1.12077868
64MP0004782_abnormal_surfactant_physiolog1.11874631
65MP0000689_abnormal_spleen_morphology1.10813081
66MP0000569_abnormal_digit_pigmentation1.09697745
67* MP0002429_abnormal_blood_cell1.08100123
68MP0003866_abnormal_defecation1.06214670
69MP0003806_abnormal_nucleotide_metabolis1.05117203
70MP0002933_joint_inflammation1.00752324
71MP0001851_eye_inflammation1.00172474
72MP0006054_spinal_hemorrhage0.98525078
73MP0000465_gastrointestinal_hemorrhage0.97905207
74MP0010307_abnormal_tumor_latency0.95805441
75MP0003453_abnormal_keratinocyte_physiol0.94233027
76MP0002722_abnormal_immune_system0.94144932
77MP0004381_abnormal_hair_follicle0.91403535
78* MP0009763_increased_sensitivity_to0.90976643
79MP0000703_abnormal_thymus_morphology0.90895563
80MP0000249_abnormal_blood_vessel0.90281807
81MP0003566_abnormal_cell_adhesion0.89663395
82MP0003656_abnormal_erythrocyte_physiolo0.88171167
83MP0008260_abnormal_autophagy0.87255059
84MP0004858_abnormal_nervous_system0.87157077
85MP0005257_abnormal_intraocular_pressure0.80714071
86MP0002396_abnormal_hematopoietic_system0.80102984
87MP0003795_abnormal_bone_structure0.79000733
88MP0009765_abnormal_xenobiotic_induced0.77944369
89MP0010352_gastrointestinal_tract_polyps0.76250260
90MP0000371_diluted_coat_color0.75555939
91MP0002166_altered_tumor_susceptibility0.75146471
92MP0002332_abnormal_exercise_endurance0.73427527
93MP0005023_abnormal_wound_healing0.73366165
94MP0003091_abnormal_cell_migration0.73269065
95MP0005174_abnormal_tail_pigmentation0.72664908
96MP0003221_abnormal_cardiomyocyte_apopto0.71853845
97MP0008874_decreased_physiological_sensi0.71178496
98MP0000767_abnormal_smooth_muscle0.70115301
99MP0004883_abnormal_blood_vessel0.69618226
100MP0003045_fibrosis0.67855613
101MP0008438_abnormal_cutaneous_collagen0.67519976
102MP0000015_abnormal_ear_pigmentation0.67406676
103MP0003186_abnormal_redox_activity0.67231321
104MP0000490_abnormal_crypts_of0.67025903
105MP0002090_abnormal_vision0.64106552
106MP0003329_amyloid_beta_deposits0.63849888
107MP0003705_abnormal_hypodermis_morpholog0.62481356
108MP0002136_abnormal_kidney_physiology0.61391535
109MP0005083_abnormal_biliary_tract0.58673982
110MP0000920_abnormal_myelination0.58429793
111MP0002138_abnormal_hepatobiliary_system0.57890193
112MP0005197_abnormal_uvea_morphology0.55810258
113MP0004130_abnormal_muscle_cell0.54391825
114MP0001663_abnormal_digestive_system0.54300745
115MP0004808_abnormal_hematopoietic_stem0.54004157
116* MP0008873_increased_physiological_sensi0.51421465
117MP0001873_stomach_inflammation0.50881791
118MP0002139_abnormal_hepatobiliary_system0.49247614
119MP0005376_homeostasis/metabolism_phenot0.48801887
120MP0000609_abnormal_liver_physiology0.48307552

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.51202097
2Eczematoid dermatitis (HP:0000976)6.81772206
3Recurrent bacterial skin infections (HP:0005406)6.75952199
4Recurrent gram-negative bacterial infections (HP:0005420)6.23669588
5Abnormality of macrophages (HP:0004311)5.36420080
6Increased cerebral lipofuscin (HP:0011813)4.95656326
7Mediastinal lymphadenopathy (HP:0100721)4.89077339
8Increased neuronal autofluorescent lipopigment (HP:0002074)4.66723479
9Orchitis (HP:0100796)4.51571450
10Systemic lupus erythematosus (HP:0002725)4.49413226
11Stomatitis (HP:0010280)4.48691353
12Vacuolated lymphocytes (HP:0001922)4.42582668
13Myositis (HP:0100614)4.28227625
14Retrobulbar optic neuritis (HP:0100654)4.26893393
15Optic neuritis (HP:0100653)4.26893393
16Elevated erythrocyte sedimentation rate (HP:0003565)4.14050118
17Recurrent skin infections (HP:0001581)4.11701374
18Gingivitis (HP:0000230)4.11593171
19Autoimmune thrombocytopenia (HP:0001973)3.90669001
20Axonal loss (HP:0003447)3.90217018
21Dysostosis multiplex (HP:0000943)3.69643917
22Gastrointestinal infarctions (HP:0005244)3.66213685
23Chronic obstructive pulmonary disease (HP:0006510)3.65647407
24Obstructive lung disease (HP:0006536)3.65647407
25Disinhibition (HP:0000734)3.63442939
26Prostate neoplasm (HP:0100787)3.51514396
27Abnormality of glycolipid metabolism (HP:0010969)3.50273935
28Abnormality of liposaccharide metabolism (HP:0010968)3.50273935
29Abnormality of glycosphingolipid metabolism (HP:0004343)3.50273935
30Recurrent fungal infections (HP:0002841)3.41828187
31Basal ganglia calcification (HP:0002135)3.37257810
32Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.34613853
33Glomerulonephritis (HP:0000099)3.31499729
34Thick nail (HP:0001805)3.24167534
35Encephalitis (HP:0002383)3.20006334
36Vasculitis (HP:0002633)3.17866777
37Urinary glycosaminoglycan excretion (HP:0003541)3.09529671
38Mucopolysacchariduria (HP:0008155)3.09529671
39Myocardial infarction (HP:0001658)3.03604387
40Interstitial pulmonary disease (HP:0006530)2.98679451
41Pustule (HP:0200039)2.95949781
42Abnormal delayed hypersensitivity skin test (HP:0002963)2.93837103
43Hematochezia (HP:0002573)2.92230891
44Abnormality of mucopolysaccharide metabolism (HP:0011020)2.91482758
45Abnormality of polysaccharide metabolism (HP:0011012)2.91482758
46Abnormality of glycosaminoglycan metabolism (HP:0004371)2.91482758
47Pulmonary infiltrates (HP:0002113)2.90758996
48Periodontitis (HP:0000704)2.89720252
49T lymphocytopenia (HP:0005403)2.88119421
50Urticaria (HP:0001025)2.87610767
51Increased IgE level (HP:0003212)2.85677177
52Episodic fever (HP:0001954)2.84079692
53Recurrent viral infections (HP:0004429)2.83361895
54Agnosia (HP:0010524)2.83292512
55Cellulitis (HP:0100658)2.79915177
56Chest pain (HP:0100749)2.79656604
57Abnormality of T cell number (HP:0011839)2.73326785
58Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.67254169
59Joint hemorrhage (HP:0005261)2.66086269
60Prolonged bleeding time (HP:0003010)2.63001613
61Tetraparesis (HP:0002273)2.62349988
62Peritonitis (HP:0002586)2.62278062
63Pulmonary embolism (HP:0002204)2.58946234
64Recurrent cutaneous fungal infections (HP:0011370)2.58681631
65Chronic mucocutaneous candidiasis (HP:0002728)2.58681631
66Gangrene (HP:0100758)2.56911816
67Osteomyelitis (HP:0002754)2.51220319
68Epistaxis (HP:0000421)2.50699868
69Arterial thrombosis (HP:0004420)2.46860702
70Osteolytic defects of the hand bones (HP:0009699)2.46631195
71Osteolytic defects of the phalanges of the hand (HP:0009771)2.46631195
72Keratoconjunctivitis sicca (HP:0001097)2.44099596
73Increased serum ferritin (HP:0003281)2.37412421
74Leukocytosis (HP:0001974)2.37395238
75Increased IgM level (HP:0003496)2.36578550
76Meningitis (HP:0001287)2.34510043
77Hypochromic microcytic anemia (HP:0004840)2.32498073
78Recurrent pneumonia (HP:0006532)2.32179828
79Nephritis (HP:0000123)2.30221548
80Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.27232408
81Bone pain (HP:0002653)2.26689536
82Pathologic fracture (HP:0002756)2.26660039
83Purpura (HP:0000979)2.26357478
84Hepatosplenomegaly (HP:0001433)2.25618974
85Vertebral compression fractures (HP:0002953)2.24795769
86Inflammation of the large intestine (HP:0002037)2.22435993
87Hemoptysis (HP:0002105)2.22188811
88Upper motor neuron abnormality (HP:0002127)2.22168731
89Abnormality of the endocardium (HP:0004306)2.19821600
90Keratoconjunctivitis (HP:0001096)2.19443892
91Loss of speech (HP:0002371)2.17855635
92Vertigo (HP:0002321)2.17353983
93Polyneuropathy (HP:0001271)2.17346418
94Nausea (HP:0002018)2.17102876
95Premature loss of primary teeth (HP:0006323)2.13290617
96Abnormality of iron homeostasis (HP:0011031)2.12837941
97Hypochromic anemia (HP:0001931)2.12831504
98Glomerulopathy (HP:0100820)2.10667596
99Esophageal neoplasm (HP:0100751)2.09708116
100Neoplasm of head and neck (HP:0012288)2.09708116
101Abnormality of T cells (HP:0002843)2.09140223
102Gastrointestinal inflammation (HP:0004386)2.09047054
103Granulocytopenia (HP:0001913)2.06798884
104Abnormality of the peritoneum (HP:0002585)2.06470103
105Mutism (HP:0002300)2.05407789
106Peripheral demyelination (HP:0011096)2.04363480
107Apathy (HP:0000741)2.02693591
108Amyloidosis (HP:0011034)2.02306576
109Sepsis (HP:0100806)2.01949256
110Slow saccadic eye movements (HP:0000514)2.01819877
111Acne (HP:0001061)2.00869613
112Diminished motivation (HP:0000745)1.99785570
113Hypergammaglobulinemia (HP:0010702)1.98221030
114Recurrent lower respiratory tract infections (HP:0002783)1.97824596
115Gingival bleeding (HP:0000225)1.96534579
116Progressive visual loss (HP:0000529)1.96131902
117Abnormality of the vasculature of the conjunctiva (HP:0008054)1.95236675
118Spontaneous hematomas (HP:0007420)1.92691479
119Keratitis (HP:0000491)1.92646680
120Colitis (HP:0002583)1.90498096
121Abnormality of the pericardium (HP:0001697)1.88675076
122Anorexia (HP:0002039)1.88506747
123Abnormality of the prostate (HP:0008775)1.87418457
124Eosinophilia (HP:0001880)1.87388094
125Arthralgia (HP:0002829)1.85897976
126Cheilitis (HP:0100825)1.85489779
127J-shaped sella turcica (HP:0002680)1.84982686
128Abnormality of complement system (HP:0005339)1.84322981
129Retinal atrophy (HP:0001105)1.82516396
130Petechiae (HP:0000967)1.81505134
131Poor head control (HP:0002421)1.80951699
132Chronic otitis media (HP:0000389)1.73958140
133Inappropriate behavior (HP:0000719)1.73882262
134Abnormality of the pleura (HP:0002103)1.73745923
135Skin ulcer (HP:0200042)1.73171991

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.51446934
2MAP3K144.19527643
3TBK13.77375738
4IRAK33.74659694
5IRAK43.33865087
6BLK3.18385959
7TYK23.04787851
8MAP4K12.91798100
9IKBKE2.56817000
10ERN12.56217501
11TGFBR22.39311039
12IKBKB2.36779201
13TXK2.24554865
14PRPF4B2.08131913
15KIT2.01390824
16JAK31.91778441
17JAK11.84743403
18TAOK11.84173779
19CSK1.76709497
20FGR1.66253375
21TNK21.55941671
22PBK1.54003785
23GRK61.51905186
24PIM21.49026578
25CHUK1.40215068
26MAP3K131.38112000
27CSF1R1.35709304
28HCK1.35449101
29ZAP701.35138284
30RPS6KA41.32826567
31NME21.30988370
32EPHB11.25803271
33MATK1.24602408
34STK101.22310300
35SYK1.21246249
36RIPK11.17910098
37LYN1.17247346
38MARK31.14982703
39JAK21.13897123
40GRK71.08538015
41PIM11.08159299
42MAP3K31.06985978
43SIK31.06295443
44CAMK1D1.04598026
45ABL21.03949430
46LCK1.02775661
47FES1.01565838
48NEK90.98701295
49MAP3K100.98018222
50MAP2K30.97414350
51BMX0.92522959
52EIF2AK20.91918112
53BTK0.89107587
54CDC42BPA0.86233420
55MAP3K110.85709447
56MAP3K20.84704560
57TAOK30.84656025
58MAP3K60.84446860
59MST40.83559977
60PRKCD0.81462229
61IRAK10.79069677
62MARK20.78325525
63EGFR0.75635611
64MAP3K50.74059998
65MOS0.73816665
66IRAK20.73664329
67BMPR20.73298690
68STK30.72637280
69TTN0.69305531
70TEC0.68700898
71ABL10.68235208
72CAMKK20.64464020
73MST1R0.63739677
74TRIB30.61412283
75YES10.61395867
76PTK60.60172746
77KSR10.57831319
78LRRK20.57370581
79FGFR30.56052275
80ITK0.54765390
81DDR20.54481917
82CLK10.54248185
83TAOK20.54228078
84PKN20.52991409
85ARAF0.52506537
86ACVR1B0.52319957
87TESK20.52266272
88SGK30.52179331
89MAPK70.51447957
90PAK40.50093955
91MAPK120.49870306
92DAPK20.49598609
93PRKD20.49578852
94MAP3K10.48824674
95MAP2K60.48722362
96STK240.48460809
97TRPM70.47368262
98HIPK20.46033109
99RPS6KA60.45485802
100RAF10.44862451
101SIK20.44688276
102MAP2K40.44681795
103STK40.42152274
104KSR20.41988398
105PTK2B0.41363074
106CAMK1G0.39951323
107DYRK1B0.39815897
108DAPK30.39755129
109FYN0.39565288
110MAPKAPK20.39440145
111GSK3A0.36608287
112SCYL20.36064140
113FGFR40.36054272
114CDK60.34837785
115PDK10.34194401
116PIK3CG0.34085882
117STK110.33987908
118SGK20.33853313
119PDGFRB0.33264717
120DYRK30.33095400
121PRKG20.32907213
122RPS6KC10.31224772
123RPS6KL10.31224772
124PRKCQ0.31192922
125PDPK10.31161778
126RET0.31009920
127ERBB40.30819154
128CAMKK10.30741505
129EPHA30.28846563
130MAPK40.28656567
131INSR0.27954126

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051503.62095295
2* Leishmaniasis_Homo sapiens_hsa051403.42447570
3Graft-versus-host disease_Homo sapiens_hsa053322.99083047
4* Toll-like receptor signaling pathway_Homo sapiens_hsa046202.90051059
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.75239876
6Osteoclast differentiation_Homo sapiens_hsa043802.65572602
7* Legionellosis_Homo sapiens_hsa051342.60307471
8Pertussis_Homo sapiens_hsa051332.56113497
9NOD-like receptor signaling pathway_Homo sapiens_hsa046212.42237157
10* Tuberculosis_Homo sapiens_hsa051522.38331392
11* Malaria_Homo sapiens_hsa051442.32697007
12Lysosome_Homo sapiens_hsa041422.26709756
13* Rheumatoid arthritis_Homo sapiens_hsa053232.26037447
14TNF signaling pathway_Homo sapiens_hsa046682.05796947
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.05275083
16Allograft rejection_Homo sapiens_hsa053302.01696881
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.99741642
18* Phagosome_Homo sapiens_hsa041451.94545527
19Asthma_Homo sapiens_hsa053101.91425179
20Glycosaminoglycan degradation_Homo sapiens_hsa005311.90125089
21Influenza A_Homo sapiens_hsa051641.82141017
22Salmonella infection_Homo sapiens_hsa051321.81522820
23* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.81272797
24* Measles_Homo sapiens_hsa051621.78441381
25African trypanosomiasis_Homo sapiens_hsa051431.76574871
26Type I diabetes mellitus_Homo sapiens_hsa049401.75895075
27Other glycan degradation_Homo sapiens_hsa005111.67191210
28Hematopoietic cell lineage_Homo sapiens_hsa046401.62663024
29* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.61471003
30B cell receptor signaling pathway_Homo sapiens_hsa046621.61235020
31Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.44235981
32* Toxoplasmosis_Homo sapiens_hsa051451.41633775
33Apoptosis_Homo sapiens_hsa042101.32981737
34Shigellosis_Homo sapiens_hsa051311.31645703
35Intestinal immune network for IgA production_Homo sapiens_hsa046721.31160560
36Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.27944715
37Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.22772918
38* Herpes simplex infection_Homo sapiens_hsa051681.22733908
39Antigen processing and presentation_Homo sapiens_hsa046121.21535150
40Chemokine signaling pathway_Homo sapiens_hsa040621.20382347
41AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.11381465
42Jak-STAT signaling pathway_Homo sapiens_hsa046301.08284443
43Hepatitis C_Homo sapiens_hsa051601.06850900
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.01864449
45Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.00653550
46* Amoebiasis_Homo sapiens_hsa051461.00472024
47Complement and coagulation cascades_Homo sapiens_hsa046100.98931220
48* Hepatitis B_Homo sapiens_hsa051610.98623202
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.98362454
50Prion diseases_Homo sapiens_hsa050200.96060882
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.88331415
52Non-small cell lung cancer_Homo sapiens_hsa052230.85053343
53Viral myocarditis_Homo sapiens_hsa054160.80444607
54Autoimmune thyroid disease_Homo sapiens_hsa053200.78325128
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76189370
56Adipocytokine signaling pathway_Homo sapiens_hsa049200.75396117
57T cell receptor signaling pathway_Homo sapiens_hsa046600.74442011
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70866572
59Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69582998
60Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.69157351
61Collecting duct acid secretion_Homo sapiens_hsa049660.68657350
62Chronic myeloid leukemia_Homo sapiens_hsa052200.66648959
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.66041176
64Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61858198
65Acute myeloid leukemia_Homo sapiens_hsa052210.61792891
66Pancreatic cancer_Homo sapiens_hsa052120.60368895
67Type II diabetes mellitus_Homo sapiens_hsa049300.59601157
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.58113429
69Bladder cancer_Homo sapiens_hsa052190.57587628
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.57292770
71GnRH signaling pathway_Homo sapiens_hsa049120.54605909
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.54311498
73Prolactin signaling pathway_Homo sapiens_hsa049170.53193204
74Platelet activation_Homo sapiens_hsa046110.52806286
75Caffeine metabolism_Homo sapiens_hsa002320.51885792
76Epstein-Barr virus infection_Homo sapiens_hsa051690.50369592
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48220904
78Sphingolipid metabolism_Homo sapiens_hsa006000.42841299
79HIF-1 signaling pathway_Homo sapiens_hsa040660.42115406
80Endometrial cancer_Homo sapiens_hsa052130.41023644
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39924437
82Mineral absorption_Homo sapiens_hsa049780.39388214
83Small cell lung cancer_Homo sapiens_hsa052220.39363226
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38791879
85VEGF signaling pathway_Homo sapiens_hsa043700.38346694
86mTOR signaling pathway_Homo sapiens_hsa041500.38202030
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37631351
88Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37568386
89Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37484761
90Viral carcinogenesis_Homo sapiens_hsa052030.37231092
91Choline metabolism in cancer_Homo sapiens_hsa052310.35836357
92* Proteoglycans in cancer_Homo sapiens_hsa052050.35324616
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35059546
94Primary immunodeficiency_Homo sapiens_hsa053400.33592497
95Renal cell carcinoma_Homo sapiens_hsa052110.32836539
96Insulin resistance_Homo sapiens_hsa049310.32805025
97Phosphatidylinositol signaling system_Homo sapiens_hsa040700.32042138
98Endocytosis_Homo sapiens_hsa041440.31968084
99ErbB signaling pathway_Homo sapiens_hsa040120.31836392
100Renin-angiotensin system_Homo sapiens_hsa046140.29459651
101Dorso-ventral axis formation_Homo sapiens_hsa043200.28856315
102Estrogen signaling pathway_Homo sapiens_hsa049150.28836819
103Notch signaling pathway_Homo sapiens_hsa043300.26475775
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25543397
105Systemic lupus erythematosus_Homo sapiens_hsa053220.24241977
106HTLV-I infection_Homo sapiens_hsa051660.22010162
107Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.19790054
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.19236182
109MicroRNAs in cancer_Homo sapiens_hsa052060.18154638
110FoxO signaling pathway_Homo sapiens_hsa040680.18009529
111Vibrio cholerae infection_Homo sapiens_hsa051100.17524865
112Pentose and glucuronate interconversions_Homo sapiens_hsa000400.17524324
113MAPK signaling pathway_Homo sapiens_hsa040100.16755829
114Focal adhesion_Homo sapiens_hsa045100.16515264

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