RAC2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)6.13981079
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.60082332
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.51389923
4antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.51389923
5positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.21803841
6antigen processing and presentation of endogenous antigen (GO:0019883)5.21237075
7regulation of B cell receptor signaling pathway (GO:0050855)5.20354508
8negative thymic T cell selection (GO:0045060)4.73311198
9negative T cell selection (GO:0043383)4.71843753
10positive thymic T cell selection (GO:0045059)4.67383291
11regulation of gamma-delta T cell differentiation (GO:0045586)4.59849519
12modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.54198859
13positive regulation by organism of defense response of other organism involved in symbiotic interact4.54198859
14modulation by symbiont of host immune response (GO:0052553)4.54198859
15positive regulation by symbiont of host defense response (GO:0052509)4.54198859
16modulation by symbiont of host defense response (GO:0052031)4.54198859
17modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.54198859
18negative regulation of cell killing (GO:0031342)4.52467731
19negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.52467731
20T cell migration (GO:0072678)4.48007267
21* leukocyte aggregation (GO:0070486)4.47290444
22detection of bacterium (GO:0016045)4.39242147
23detection of other organism (GO:0098543)4.32531119
24cellular response to interleukin-15 (GO:0071350)4.32231007
25regulation of gamma-delta T cell activation (GO:0046643)4.30275113
26Arp2/3 complex-mediated actin nucleation (GO:0034314)4.18702192
27response to interleukin-15 (GO:0070672)4.18191287
28regulation of B cell differentiation (GO:0045577)4.16538027
29sequestering of actin monomers (GO:0042989)4.01656357
30regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.00787265
31negative regulation of phagocytosis (GO:0050765)3.98163435
32B cell receptor signaling pathway (GO:0050853)3.96788629
33mast cell activation (GO:0045576)3.93437896
34thymic T cell selection (GO:0045061)3.90101950
35negative regulation of lymphocyte mediated immunity (GO:0002707)3.88132700
36interferon-gamma production (GO:0032609)3.87059507
37positive T cell selection (GO:0043368)3.79466322
38cellular response to zinc ion (GO:0071294)3.79433713
39regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.74534098
40regulation of isotype switching to IgG isotypes (GO:0048302)3.73346691
41macrophage activation involved in immune response (GO:0002281)3.72742573
42negative regulation of interleukin-12 production (GO:0032695)3.71882665
43immunoglobulin mediated immune response (GO:0016064)3.68432372
44negative regulation of T cell mediated immunity (GO:0002710)3.64691630
45antigen processing and presentation via MHC class Ib (GO:0002475)3.63642127
46positive regulation of B cell differentiation (GO:0045579)3.61588262
47respiratory burst (GO:0045730)3.60271809
48negative regulation of leukocyte mediated immunity (GO:0002704)3.56460082
49T cell selection (GO:0045058)3.54374572
50antigen receptor-mediated signaling pathway (GO:0050851)3.53044756
51regulation of T cell receptor signaling pathway (GO:0050856)3.51912008
52T cell costimulation (GO:0031295)3.50493684
53neutrophil activation involved in immune response (GO:0002283)3.48653526
54lymphocyte costimulation (GO:0031294)3.47736154
55T cell receptor signaling pathway (GO:0050852)3.41276792
56positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.39386455
57ribosomal small subunit assembly (GO:0000028)3.38222544
58defense response to protozoan (GO:0042832)3.37279639
59myeloid cell activation involved in immune response (GO:0002275)3.34572982
60detection of external biotic stimulus (GO:0098581)3.34352858
61response to type I interferon (GO:0034340)3.33523948
62cellular response to type I interferon (GO:0071357)3.32588289
63type I interferon signaling pathway (GO:0060337)3.32588289
64regulation of alpha-beta T cell proliferation (GO:0046640)3.31924456
65positive regulation of T cell mediated cytotoxicity (GO:0001916)3.31397052
66regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.29567492
67cellular extravasation (GO:0045123)3.28707568
68response to host immune response (GO:0052572)3.27477833
69response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.27477833
70regulation of tolerance induction (GO:0002643)3.27206534
71positive regulation of alpha-beta T cell proliferation (GO:0046641)3.25192793
72response to protozoan (GO:0001562)3.23579383
73DNA deamination (GO:0045006)3.22322829
74B cell mediated immunity (GO:0019724)3.20924165
75positive regulation of granulocyte differentiation (GO:0030854)3.19777804
76regulation of antigen processing and presentation (GO:0002577)3.18532299
77regulation of dendritic cell antigen processing and presentation (GO:0002604)3.18147515
78positive regulation of isotype switching (GO:0045830)3.16955906
79regulation of interferon-beta biosynthetic process (GO:0045357)3.16771626
80regulation of mast cell degranulation (GO:0043304)3.16368411
81T cell homeostasis (GO:0043029)3.16076500
82regulation of regulatory T cell differentiation (GO:0045589)3.14975981
83interferon-gamma-mediated signaling pathway (GO:0060333)3.12654849
84negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.10841106
85actin nucleation (GO:0045010)3.07695987
86negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.07127654
87positive regulation of antigen processing and presentation (GO:0002579)3.06097116
88negative regulation of erythrocyte differentiation (GO:0045647)3.05072444
89positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.05063725
90tolerance induction (GO:0002507)3.03842286
91positive regulation of macrophage differentiation (GO:0045651)3.03302054
92response to host defenses (GO:0052200)3.00875181
93response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.00875181
94response to host (GO:0075136)3.00875181
95natural killer cell activation (GO:0030101)2.99824179
96mast cell activation involved in immune response (GO:0002279)2.97730182
97mast cell degranulation (GO:0043303)2.97730182
98myeloid dendritic cell activation (GO:0001773)2.97431420
99activated T cell proliferation (GO:0050798)2.97140209
100response to muramyl dipeptide (GO:0032495)2.95862922
101regulation of B cell mediated immunity (GO:0002712)2.95790424
102* leukocyte cell-cell adhesion (GO:0007159)2.95584558
103regulation of response to interferon-gamma (GO:0060330)2.94773298
104negative regulation of innate immune response (GO:0045824)2.92891006
105detection of biotic stimulus (GO:0009595)2.92176430
106positive regulation of immunoglobulin mediated immune response (GO:0002891)2.91578057
107positive regulation of B cell mediated immunity (GO:0002714)2.91578057
108neutrophil activation (GO:0042119)2.91133949
109regulation of type I interferon-mediated signaling pathway (GO:0060338)2.90943977
110positive regulation of tolerance induction (GO:0002645)2.90846469
111regulation of T cell tolerance induction (GO:0002664)2.88504851
112regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.87966298
113regulation of immunoglobulin mediated immune response (GO:0002889)2.87399030
114regulation of mast cell activation involved in immune response (GO:0033006)2.87257065
115NIK/NF-kappaB signaling (GO:0038061)2.87038620
116cellular response to interferon-beta (GO:0035458)2.86277675
117regulation of natural killer cell mediated immunity (GO:0002715)2.85849112
118regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.85849112
119positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.85824954
120germinal center formation (GO:0002467)2.84352046
121response to peptidoglycan (GO:0032494)2.82171770
122regulation of isotype switching (GO:0045191)2.80071763
123lymphocyte homeostasis (GO:0002260)2.79977435
124regulation of interleukin-12 biosynthetic process (GO:0045075)2.78981377
125immune response-activating cell surface receptor signaling pathway (GO:0002429)2.77709668
126negative regulation of T cell receptor signaling pathway (GO:0050860)2.77181563
127positive regulation of DNA recombination (GO:0045911)2.76658626
128positive regulation of natural killer cell mediated immunity (GO:0002717)2.74111838
129positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.74111838
130leukocyte degranulation (GO:0043299)2.73403340
131regulation of leukocyte mediated cytotoxicity (GO:0001910)2.71692170
132cellular defense response (GO:0006968)2.71651736
133regulation of T cell mediated cytotoxicity (GO:0001914)2.71492661
134positive regulation of interleukin-2 production (GO:0032743)2.71154542
135granulocyte activation (GO:0036230)2.65088458
136telomere maintenance via semi-conservative replication (GO:0032201)2.64584444
137regulation of interleukin-2 biosynthetic process (GO:0045076)2.64260324
138positive regulation of immunoglobulin production (GO:0002639)2.61507588
139regulation of necroptotic process (GO:0060544)2.60990803

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.12838746
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.75557247
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.22308608
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.90480228
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.78549770
6* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.77441080
7* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.45145466
8SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.23685555
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.88770469
10* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.85680630
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.85220661
12SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.79797608
13RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.73788426
14MYC_22102868_ChIP-Seq_BL_Human2.72063183
15ELF1_17652178_ChIP-ChIP_JURKAT_Human2.67196517
16* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.56508747
17* MYB_26560356_Chip-Seq_TH2_Human2.54756743
18MYB_21317192_ChIP-Seq_ERMYB_Mouse2.49834820
19VDR_21846776_ChIP-Seq_THP-1_Human2.43052522
20* SPI1_23547873_ChIP-Seq_NB4_Human2.42904311
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.38747465
22* MAF_26560356_Chip-Seq_TH1_Human2.37475095
23* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.30334558
24IRF8_27001747_Chip-Seq_BMDM_Mouse2.29013771
25* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.28884035
26SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.25309892
27RUNX_20019798_ChIP-Seq_JUKART_Human2.25034626
28* SCL_19346495_ChIP-Seq_HPC-7_Human2.18674162
29* MYB_26560356_Chip-Seq_TH1_Human2.18011300
30* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.16597288
31EGR1_19374776_ChIP-ChIP_THP-1_Human2.16113706
32* UTX_26944678_Chip-Seq_JUKART_Human2.13565570
33RUNX1_22412390_ChIP-Seq_EML_Mouse2.05541891
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.00077311
35TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.98352054
36VDR_24763502_ChIP-Seq_THP-1_Human1.91307598
37BRD4_27068464_Chip-Seq_AML-cells_Mouse1.85343313
38NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.84535339
39* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.81564867
40SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.80081646
41FOXM1_23109430_ChIP-Seq_U2OS_Human1.78917616
42E2F4_17652178_ChIP-ChIP_JURKAT_Human1.77956121
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.77758815
44NOTCH1_21737748_ChIP-Seq_TLL_Human1.71046185
45* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.69474433
46* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.65017200
47HOXB4_20404135_ChIP-ChIP_EML_Mouse1.60884956
48SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.55672936
49* MAF_26560356_Chip-Seq_TH2_Human1.53697945
50* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.53503508
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.53415447
52ERG_20887958_ChIP-Seq_HPC-7_Mouse1.53270563
53* VDR_23849224_ChIP-Seq_CD4+_Human1.48882689
54* GATA3_27048872_Chip-Seq_THYMUS_Human1.48040623
55FOXP3_21729870_ChIP-Seq_TREG_Human1.45992303
56* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.45153043
57CIITA_25753668_ChIP-Seq_RAJI_Human1.43539514
58GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.42725698
59LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.42270499
60GABP_17652178_ChIP-ChIP_JURKAT_Human1.40116633
61* SPI1_23127762_ChIP-Seq_K562_Human1.39854614
62FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.38110568
63* TCF7_22412390_ChIP-Seq_EML_Mouse1.37316902
64BCL6_27268052_Chip-Seq_Bcells_Human1.36461829
65LXR_22292898_ChIP-Seq_THP-1_Human1.29401948
66* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.27103672
67VDR_24787735_ChIP-Seq_THP-1_Human1.26997237
68CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.26692480
69EST1_17652178_ChIP-ChIP_JURKAT_Human1.24258755
70PU_27001747_Chip-Seq_BMDM_Mouse1.22554298
71MYC_18555785_ChIP-Seq_MESCs_Mouse1.20454989
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.19218159
73GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.18849279
74BCOR_27268052_Chip-Seq_Bcells_Human1.17275435
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.15915284
76JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.15674514
77* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15535723
78* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12974123
79PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11916274
80Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.11582294
81KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.08290860
82* GATA3_26560356_Chip-Seq_TH2_Human1.07911121
83* GATA1_19941826_ChIP-Seq_K562_Human1.06410305
84MYC_18358816_ChIP-ChIP_MESCs_Mouse1.05710677
85VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.05383926
86NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.05083217
87CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03444301
88GATA1_22025678_ChIP-Seq_K562_Human1.02720995
89PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02703825
90RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.01273089
91KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.01075480
92IKZF1_21737484_ChIP-ChIP_HCT116_Human1.00776754
93KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.00737139
94* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00698302
95SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.00422313
96THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98764416
97ETS1_20019798_ChIP-Seq_JURKAT_Human0.97973368
98* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97002470
99ELK1_19687146_ChIP-ChIP_HELA_Human0.96948615
100NCOR1_26117541_ChIP-Seq_K562_Human0.96644154
101PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96326695
102SPI1_20517297_ChIP-Seq_HL60_Human0.96144991
103GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95959336
104* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95678819
105GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92684568
106XRN2_22483619_ChIP-Seq_HELA_Human0.92527383
107CTCF_27219007_Chip-Seq_ERYTHROID_Human0.92360664
108CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.91742959
109* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91287257
110KDM2B_26808549_Chip-Seq_JURKAT_Human0.91067257
111P300_27268052_Chip-Seq_Bcells_Human0.90993490
112E2F1_21310950_ChIP-Seq_MCF-7_Human0.90657330
113HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.89529779
114NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89241024
115* GATA1_19941827_ChIP-Seq_MEL_Mouse0.88448237
116TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88365119
117GABP_19822575_ChIP-Seq_HepG2_Human0.87570167
118MYC_19030024_ChIP-ChIP_MESCs_Mouse0.86203379
119SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85918651
120KDM2B_26808549_Chip-Seq_DND41_Human0.84969455
121* ELK3_25401928_ChIP-Seq_HUVEC_Human0.84632325
122CTCF_26484167_Chip-Seq_Bcells_Mouse0.84490079
123SA1_27219007_Chip-Seq_ERYTHROID_Human0.84386160
124PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82388218

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.40712032
2MP0005671_abnormal_response_to4.21588946
3MP0003763_abnormal_thymus_physiology3.74160981
4MP0009785_altered_susceptibility_to3.69412983
5MP0000685_abnormal_immune_system3.54472249
6MP0001800_abnormal_humoral_immune3.22496446
7MP0005000_abnormal_immune_tolerance3.04115360
8MP0001790_abnormal_immune_system3.02242954
9MP0005387_immune_system_phenotype3.02242954
10MP0003436_decreased_susceptibility_to3.01742974
11* MP0005025_abnormal_response_to2.93658031
12* MP0002420_abnormal_adaptive_immunity2.89066803
13* MP0001819_abnormal_immune_cell2.85483038
14MP0002452_abnormal_antigen_presenting2.84779561
15* MP0002723_abnormal_immune_serum2.79986431
16* MP0002398_abnormal_bone_marrow2.67585247
17MP0002148_abnormal_hypersensitivity_rea2.59514255
18MP0002166_altered_tumor_susceptibility2.59077470
19MP0002396_abnormal_hematopoietic_system2.58760819
20* MP0002419_abnormal_innate_immunity2.55652194
21MP0002405_respiratory_system_inflammati2.42614592
22* MP0000716_abnormal_immune_system2.41111287
23MP0006082_CNS_inflammation2.40211508
24MP0003724_increased_susceptibility_to2.38805065
25MP0009333_abnormal_splenocyte_physiolog2.22893521
26MP0000689_abnormal_spleen_morphology2.20831980
27MP0002722_abnormal_immune_system2.20055308
28MP0003303_peritoneal_inflammation2.19970320
29MP0002006_tumorigenesis2.18204814
30MP0005464_abnormal_platelet_physiology2.12104731
31MP0010155_abnormal_intestine_physiology2.08344254
32* MP0002429_abnormal_blood_cell2.03462000
33MP0001853_heart_inflammation1.97941509
34MP0001873_stomach_inflammation1.94451026
35MP0000703_abnormal_thymus_morphology1.94217251
36MP0001845_abnormal_inflammatory_respons1.84438262
37MP0003866_abnormal_defecation1.78772341
38MP0004947_skin_inflammation1.71921965
39MP0002933_joint_inflammation1.63607797
40MP0004808_abnormal_hematopoietic_stem1.61461309
41MP0000858_altered_metastatic_potential1.58248350
42MP0005397_hematopoietic_system_phenotyp1.55981775
43MP0001545_abnormal_hematopoietic_system1.55981775
44MP0000465_gastrointestinal_hemorrhage1.52796212
45MP0000490_abnormal_crypts_of1.47605761
46MP0001533_abnormal_skeleton_physiology1.42954997
47MP0003300_gastrointestinal_ulcer1.38550429
48MP0005174_abnormal_tail_pigmentation1.36050166
49* MP0008469_abnormal_protein_level1.33169904
50MP0005310_abnormal_salivary_gland1.30643439
51MP0008057_abnormal_DNA_replication1.28548591
52MP0003693_abnormal_embryo_hatching1.27465657
53MP0010094_abnormal_chromosome_stability1.24261636
54MP0003448_altered_tumor_morphology1.23880342
55MP0004510_myositis1.22596720
56MP0002019_abnormal_tumor_incidence1.22556505
57MP0002132_abnormal_respiratory_system1.19475923
58MP0005451_abnormal_body_composition1.17040696
59MP0005075_abnormal_melanosome_morpholog1.15176987
60MP0003806_abnormal_nucleotide_metabolis1.13370534
61MP0009278_abnormal_bone_marrow1.12794398
62MP0008260_abnormal_autophagy1.11168019
63MP0009764_decreased_sensitivity_to1.10069421
64MP0003077_abnormal_cell_cycle1.05309453
65MP0002138_abnormal_hepatobiliary_system1.00655022
66MP0001851_eye_inflammation0.99665254
67MP0002277_abnormal_respiratory_mucosa0.98495959
68MP0000343_altered_response_to0.98001690
69MP0000015_abnormal_ear_pigmentation0.96386361
70MP0002095_abnormal_skin_pigmentation0.93543331
71MP0003172_abnormal_lysosome_physiology0.91556211
72MP0010352_gastrointestinal_tract_polyps0.90974591
73MP0008058_abnormal_DNA_repair0.89880278
74MP0005058_abnormal_lysosome_morphology0.88835093
75MP0003183_abnormal_peptide_metabolism0.87337647
76MP0008007_abnormal_cellular_replicative0.85810746
77MP0003111_abnormal_nucleus_morphology0.84507947
78MP0004957_abnormal_blastocyst_morpholog0.82690798
79MP0004883_abnormal_blood_vessel0.81549198
80* MP0009763_increased_sensitivity_to0.76222316
81MP0010307_abnormal_tumor_latency0.75081036
82MP0004381_abnormal_hair_follicle0.73976396
83MP0002998_abnormal_bone_remodeling0.70673258
84MP0000604_amyloidosis0.69521670
85MP0005166_decreased_susceptibility_to0.69132028
86MP0001663_abnormal_digestive_system0.67342200
87MP0000313_abnormal_cell_death0.66453261
88MP0005164_abnormal_response_to0.64959524
89MP0003656_abnormal_erythrocyte_physiolo0.62897506
90MP0009765_abnormal_xenobiotic_induced0.60517728
91MP0003191_abnormal_cellular_cholesterol0.60502565
92MP0009840_abnormal_foam_cell0.59527927
93MP0002693_abnormal_pancreas_physiology0.58475462
94MP0006054_spinal_hemorrhage0.57011165
95MP0000477_abnormal_intestine_morphology0.56965828
96MP0003828_pulmonary_edema0.56776722
97MP0008874_decreased_physiological_sensi0.56370513
98MP0008004_abnormal_stomach_pH0.54148340
99MP0005390_skeleton_phenotype0.52365984
100MP0003795_abnormal_bone_structure0.52140717
101* MP0000249_abnormal_blood_vessel0.51737716
102MP0002009_preneoplasia0.50460746
103MP0003690_abnormal_glial_cell0.49997142
104MP0005381_digestive/alimentary_phenotyp0.49458729
105MP0001191_abnormal_skin_condition0.49283596
106MP0005319_abnormal_enzyme/_coenzyme0.48059313
107MP0008873_increased_physiological_sensi0.47560964
108MP0003075_altered_response_to0.46983901
109MP0000609_abnormal_liver_physiology0.46303226
110MP0002136_abnormal_kidney_physiology0.45710474
111MP0003186_abnormal_redox_activity0.43404500
112MP0001986_abnormal_taste_sensitivity0.43337349
113MP0003045_fibrosis0.42190481
114MP0000371_diluted_coat_color0.41004985
115MP0003786_premature_aging0.38130590
116MP0005584_abnormal_enzyme/coenzyme_acti0.37076054
117* MP0009642_abnormal_blood_homeostasis0.36612383
118MP0000598_abnormal_liver_morphology0.36358033
119MP0002083_premature_death0.36207022
120MP0005083_abnormal_biliary_tract0.35855265

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.55275370
2Eczematoid dermatitis (HP:0000976)5.40351516
3Elevated erythrocyte sedimentation rate (HP:0003565)5.12865925
4IgM deficiency (HP:0002850)4.74020774
5Recurrent bronchitis (HP:0002837)4.66521965
6Recurrent bacterial skin infections (HP:0005406)4.59327642
7T lymphocytopenia (HP:0005403)4.54919880
8Recurrent fungal infections (HP:0002841)4.48331978
9Abnormality of T cell number (HP:0011839)4.46790918
10Stomatitis (HP:0010280)4.43244120
11Severe combined immunodeficiency (HP:0004430)4.27633782
12Myositis (HP:0100614)4.21891475
13Abnormality of T cells (HP:0002843)4.17767470
14Chronic otitis media (HP:0000389)4.17669751
15IgG deficiency (HP:0004315)4.08490730
16Recurrent cutaneous fungal infections (HP:0011370)4.06302212
17Chronic mucocutaneous candidiasis (HP:0002728)4.06302212
18Combined immunodeficiency (HP:0005387)3.99711093
19Recurrent viral infections (HP:0004429)3.97465879
20Agammaglobulinemia (HP:0004432)3.90299645
21Meningitis (HP:0001287)3.84875965
22Panhypogammaglobulinemia (HP:0003139)3.82218380
23Thyroiditis (HP:0100646)3.79966986
24Chronic obstructive pulmonary disease (HP:0006510)3.79963414
25Obstructive lung disease (HP:0006536)3.79963414
26Recurrent skin infections (HP:0001581)3.70221895
27Mediastinal lymphadenopathy (HP:0100721)3.64911769
28Abnormality of T cell physiology (HP:0011840)3.63789445
29Lymphopenia (HP:0001888)3.52486970
30Thrombocytosis (HP:0001894)3.48838245
31Recurrent gram-negative bacterial infections (HP:0005420)3.46739164
32Abnormality of cells of the lymphoid lineage (HP:0012140)3.44074137
33Abnormal delayed hypersensitivity skin test (HP:0002963)3.37336140
34Increased IgM level (HP:0003496)3.34995916
35Abnormality of B cell number (HP:0010975)3.30344837
36B lymphocytopenia (HP:0010976)3.30344837
37Cellulitis (HP:0100658)3.27955447
38Nasal polyposis (HP:0100582)3.18996662
39Vasculitis (HP:0002633)3.18549689
40Recurrent sinusitis (HP:0011108)3.16181200
41Abnormality of macrophages (HP:0004311)3.14483296
42Abnormality of eosinophils (HP:0001879)3.11204959
43Leukocytosis (HP:0001974)3.02388898
44Chronic diarrhea (HP:0002028)2.99541615
45Gingivitis (HP:0000230)2.98104714
46Petechiae (HP:0000967)2.92869227
47Hypoplasia of the thymus (HP:0000778)2.89734775
48Autoimmune hemolytic anemia (HP:0001890)2.85363829
49Abnormality of the nasal mucosa (HP:0000433)2.81729720
50Pustule (HP:0200039)2.81463299
51IgA deficiency (HP:0002720)2.81306338
52Orchitis (HP:0100796)2.80834938
53Eosinophilia (HP:0001880)2.80694113
54Inflammation of the large intestine (HP:0002037)2.80645521
55Retrobulbar optic neuritis (HP:0100654)2.79484381
56Optic neuritis (HP:0100653)2.79484381
57Hypergammaglobulinemia (HP:0010702)2.75177629
58Gastrointestinal inflammation (HP:0004386)2.74577773
59Autoimmune thrombocytopenia (HP:0001973)2.72454339
60Hypochromic anemia (HP:0001931)2.71359218
61Granulocytopenia (HP:0001913)2.68492698
62Encephalitis (HP:0002383)2.62891379
63Lymphoma (HP:0002665)2.62618775
64Spontaneous hematomas (HP:0007420)2.60337641
65Bronchitis (HP:0012387)2.60276528
66Gastrointestinal stroma tumor (HP:0100723)2.58544429
67Abnormality of the prostate (HP:0008775)2.56148391
68Hypochromic microcytic anemia (HP:0004840)2.52661951
69Hemoptysis (HP:0002105)2.51288560
70Gingival bleeding (HP:0000225)2.50167605
71Recurrent pneumonia (HP:0006532)2.43460233
72Pulmonary embolism (HP:0002204)2.43317859
73Pulmonary infiltrates (HP:0002113)2.41958134
74Sepsis (HP:0100806)2.38686711
75Aplastic anemia (HP:0001915)2.37734150
76Episodic fever (HP:0001954)2.36509086
77Chronic sinusitis (HP:0011109)2.34606392
78Purpura (HP:0000979)2.34453612
79Anorexia (HP:0002039)2.33570681
80Abnormality of the pleura (HP:0002103)2.32409418
81Colitis (HP:0002583)2.31867661
82Prolonged bleeding time (HP:0003010)2.31450214
83Epistaxis (HP:0000421)2.30390432
84Urticaria (HP:0001025)2.29025460
85Abnormality of the fingertips (HP:0001211)2.27298714
86Recurrent lower respiratory tract infections (HP:0002783)2.26662628
87Vacuolated lymphocytes (HP:0001922)2.25015911
88Keratoconjunctivitis sicca (HP:0001097)2.24012158
89Hepatosplenomegaly (HP:0001433)2.23260647
90Gangrene (HP:0100758)2.22963003
91Reticulocytopenia (HP:0001896)2.21540097
92Osteomyelitis (HP:0002754)2.21159141
93Verrucae (HP:0200043)2.20707446
94Papilloma (HP:0012740)2.20707446
95Gastrointestinal infarctions (HP:0005244)2.15368674
96Skin ulcer (HP:0200042)2.14670168
97Interstitial pulmonary disease (HP:0006530)2.13200608
98Increased IgE level (HP:0003212)2.12957429
99Acute hepatic failure (HP:0006554)2.12211498
100Neutropenia (HP:0001875)2.11941820
101Skin rash (HP:0000988)2.11640737
102Poikiloderma (HP:0001029)2.10954811
103Periodontitis (HP:0000704)2.10626944
104Chest pain (HP:0100749)2.09469222
105Glomerulopathy (HP:0100820)2.09138950
106Increased serum ferritin (HP:0003281)2.08800520
107Hypertensive crisis (HP:0100735)2.08612506
108Keratoconjunctivitis (HP:0001096)2.08510529
109Restrictive lung disease (HP:0002091)2.01733164
110Joint swelling (HP:0001386)2.01295446
111Microcytic anemia (HP:0001935)2.00620788
112Premature loss of primary teeth (HP:0006323)1.97140064
113Arthralgia (HP:0002829)1.96194797
114Recurrent otitis media (HP:0000403)1.95203190
115Increased cerebral lipofuscin (HP:0011813)1.94973835
116Arterial thrombosis (HP:0004420)1.94900929
117Basal ganglia calcification (HP:0002135)1.94399820
118Aplasia/Hypoplasia of the thymus (HP:0010515)1.91811606

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.17314645
2TXK4.11655715
3BLK2.85807960
4IRAK42.77895634
5ZAP702.73444470
6TESK22.48818361
7BTK2.47558264
8IKBKE2.46893822
9TYK22.43030997
10JAK32.40039275
11KIT2.38285445
12PRPF4B2.36733849
13TEC2.35863900
14KDR2.21091463
15TBK12.13911716
16ITK2.08695047
17STK101.99491440
18SYK1.98365831
19MAP3K141.91623136
20MAP3K121.89099051
21GRK61.82595273
22NME21.75178728
23LCK1.69518865
24CLK11.65772876
25CSF1R1.62994995
26CSK1.62107123
27JAK11.50727360
28FES1.45937347
29HCK1.44574765
30LYN1.39314665
31FGFR41.37114929
32ERN11.25621009
33RIPK41.24573223
34IKBKB1.20061749
35TAOK11.19934221
36NLK1.18331873
37MAP3K31.17517011
38EIF2AK11.16175528
39BUB11.15615567
40LRRK21.14365661
41FGR1.10514894
42FLT31.09516349
43EIF2AK31.09277699
44SMG11.06169583
45TAOK21.06168436
46BMPR21.03329871
47EEF2K1.03180041
48PIM21.02670511
49PIM11.00570293
50FGFR30.99289945
51MAP3K100.98843116
52RPS6KA40.98167589
53MAP3K10.96970197
54ACVR1B0.95826046
55IRAK30.95697397
56TESK10.92440323
57STK160.87955932
58MAP2K30.86887834
59MST40.84590587
60TNK20.79848537
61TAOK30.79250008
62PRKCQ0.77455855
63STK40.76969406
64CDC70.74269606
65CDK190.72700336
66TGFBR20.72413919
67BCKDK0.71395740
68TLK10.70457846
69SIK30.67715081
70MAPK120.66377984
71NEK20.62396274
72CDK40.59348552
73TGFBR10.59206708
74JAK20.58975889
75PRKD20.56736659
76GRK70.56318853
77MARK30.56011236
78SIK20.55631355
79NEK90.53881197
80MAP3K130.53540764
81TRPM70.53195909
82CHUK0.52033539
83ATR0.51715822
84MAP3K110.50996006
85KSR20.50752194
86PIK3CG0.47872937
87PTK60.46549246
88PKN20.46493217
89PASK0.45894200
90MAPK110.45574321
91SCYL20.45557752
92PDPK10.45531545
93YES10.45491892
94EPHB10.45039528
95MAPK70.45014394
96PRKCH0.44834933
97VRK10.44599098
98WEE10.44510347
99PRKCD0.43479000
100IRAK10.43365960
101MAPK40.43350120
102CAMKK10.42946311
103MAP2K60.41653440
104RPS6KA60.41183320
105MAP3K50.41150457
106MARK20.41004032
107VRK20.40300436
108CDC42BPA0.39610088
109MAP3K70.39394490
110MAP2K20.38468502
111CAMKK20.37887635
112TRIB30.37256522
113RAF10.37098812
114MAP3K80.36291196
115FYN0.35107458
116EIF2AK20.34842887
117CCNB10.33720528
118MAPKAPK20.33496915
119MATK0.32966798
120MOS0.32804372
121ABL10.32785735
122RPS6KC10.31027217
123RPS6KL10.31027217
124CDK70.29863118
125ADRBK20.29545109
126DAPK10.29491929
127RPS6KB20.28088739
128AURKB0.25468119
129HIPK20.24566253
130MYLK0.24315893
131PRKG20.23397988
132PDK10.22937197
133ILK0.22039665

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.99182320
2DNA replication_Homo sapiens_hsa030302.71027910
3Intestinal immune network for IgA production_Homo sapiens_hsa046722.64661648
4* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.60338994
5Leishmaniasis_Homo sapiens_hsa051402.58771161
6Antigen processing and presentation_Homo sapiens_hsa046122.46276392
7Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.45545329
8Measles_Homo sapiens_hsa051622.42383762
9Graft-versus-host disease_Homo sapiens_hsa053322.42251359
10Allograft rejection_Homo sapiens_hsa053302.39803310
11NF-kappa B signaling pathway_Homo sapiens_hsa040642.37890700
12T cell receptor signaling pathway_Homo sapiens_hsa046602.20878388
13Hematopoietic cell lineage_Homo sapiens_hsa046402.20339959
14Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.15411342
15Mismatch repair_Homo sapiens_hsa034302.00033348
16* B cell receptor signaling pathway_Homo sapiens_hsa046621.96809586
17Ribosome_Homo sapiens_hsa030101.86430217
18Base excision repair_Homo sapiens_hsa034101.86247863
19Osteoclast differentiation_Homo sapiens_hsa043801.86131252
20Asthma_Homo sapiens_hsa053101.77993408
21RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.77212013
22Herpes simplex infection_Homo sapiens_hsa051681.71872003
23Jak-STAT signaling pathway_Homo sapiens_hsa046301.46406578
24Toll-like receptor signaling pathway_Homo sapiens_hsa046201.43992237
25Autoimmune thyroid disease_Homo sapiens_hsa053201.41573143
26Homologous recombination_Homo sapiens_hsa034401.41182219
27Shigellosis_Homo sapiens_hsa051311.38680874
28Other glycan degradation_Homo sapiens_hsa005111.36366410
29Legionellosis_Homo sapiens_hsa051341.35137825
30Nucleotide excision repair_Homo sapiens_hsa034201.31610775
31* Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.31312222
32Non-homologous end-joining_Homo sapiens_hsa034501.29493824
33Malaria_Homo sapiens_hsa051441.27120315
34Proteasome_Homo sapiens_hsa030501.25924725
35NOD-like receptor signaling pathway_Homo sapiens_hsa046211.23665143
36Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.21994226
37Staphylococcus aureus infection_Homo sapiens_hsa051501.20559798
38Pertussis_Homo sapiens_hsa051331.18399451
39Tuberculosis_Homo sapiens_hsa051521.18135111
40Toxoplasmosis_Homo sapiens_hsa051451.16969927
41Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.16603575
42Influenza A_Homo sapiens_hsa051641.16155342
43Hepatitis B_Homo sapiens_hsa051611.14291565
44Apoptosis_Homo sapiens_hsa042101.12277372
45* Leukocyte transendothelial migration_Homo sapiens_hsa046701.11695757
46* Chemokine signaling pathway_Homo sapiens_hsa040621.10017832
47Spliceosome_Homo sapiens_hsa030401.09674173
48* Viral myocarditis_Homo sapiens_hsa054161.08693271
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02179282
50* Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.99679798
51Acute myeloid leukemia_Homo sapiens_hsa052210.99454184
52Salmonella infection_Homo sapiens_hsa051320.97508798
53Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.95204656
54Epstein-Barr virus infection_Homo sapiens_hsa051690.89438157
55Pyrimidine metabolism_Homo sapiens_hsa002400.87885250
56p53 signaling pathway_Homo sapiens_hsa041150.87480255
57Type I diabetes mellitus_Homo sapiens_hsa049400.85778846
58TNF signaling pathway_Homo sapiens_hsa046680.85704643
59Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.84576224
60Platelet activation_Homo sapiens_hsa046110.84315522
61Pentose phosphate pathway_Homo sapiens_hsa000300.81833048
62HTLV-I infection_Homo sapiens_hsa051660.81072511
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79990216
64Fanconi anemia pathway_Homo sapiens_hsa034600.78437672
65Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77198225
66Cell cycle_Homo sapiens_hsa041100.74187923
67Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.72440827
68Viral carcinogenesis_Homo sapiens_hsa052030.71837424
69RNA degradation_Homo sapiens_hsa030180.69143562
70Hepatitis C_Homo sapiens_hsa051600.62700205
71Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.60974524
72RNA polymerase_Homo sapiens_hsa030200.55165732
73Lysosome_Homo sapiens_hsa041420.54888445
74Glycosaminoglycan degradation_Homo sapiens_hsa005310.53494236
75Rheumatoid arthritis_Homo sapiens_hsa053230.52173900
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51890796
77Protein export_Homo sapiens_hsa030600.51749769
78Chronic myeloid leukemia_Homo sapiens_hsa052200.51495336
79* Pancreatic cancer_Homo sapiens_hsa052120.47481550
80Basal transcription factors_Homo sapiens_hsa030220.46435075
81Caffeine metabolism_Homo sapiens_hsa002320.44365724
82* VEGF signaling pathway_Homo sapiens_hsa043700.43978421
83African trypanosomiasis_Homo sapiens_hsa051430.43839081
84AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.42173890
85Systemic lupus erythematosus_Homo sapiens_hsa053220.41280434
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.40607855
87N-Glycan biosynthesis_Homo sapiens_hsa005100.40188300
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38025812
89Non-small cell lung cancer_Homo sapiens_hsa052230.37667178
90RNA transport_Homo sapiens_hsa030130.37328060
91Phagosome_Homo sapiens_hsa041450.35906845
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35607463
93* Sphingolipid signaling pathway_Homo sapiens_hsa040710.34474545
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34297404
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33418957
96Regulation of autophagy_Homo sapiens_hsa041400.33040688
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.31701382
98Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30275125
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.29753112
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.29653453
101Phosphatidylinositol signaling system_Homo sapiens_hsa040700.28398689
102Prolactin signaling pathway_Homo sapiens_hsa049170.28286987
103Renal cell carcinoma_Homo sapiens_hsa052110.28141710
104Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.28025341
105Small cell lung cancer_Homo sapiens_hsa052220.27423935
106Phospholipase D signaling pathway_Homo sapiens_hsa040720.26973961
107Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26620855
108Purine metabolism_Homo sapiens_hsa002300.26062990
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24629863
110FoxO signaling pathway_Homo sapiens_hsa040680.24332519
111HIF-1 signaling pathway_Homo sapiens_hsa040660.23673973
112Amoebiasis_Homo sapiens_hsa051460.23265579
113Endocytosis_Homo sapiens_hsa041440.22709656
114* MAPK signaling pathway_Homo sapiens_hsa040100.21137631
115Insulin resistance_Homo sapiens_hsa049310.20042387
116Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.19690453
117Notch signaling pathway_Homo sapiens_hsa043300.17746186
118Inositol phosphate metabolism_Homo sapiens_hsa005620.17092275
119* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.16911993
120Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.14949914
121Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.14016524
122Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.12590648
123Endometrial cancer_Homo sapiens_hsa052130.12269351
124GnRH signaling pathway_Homo sapiens_hsa049120.11755817
125mTOR signaling pathway_Homo sapiens_hsa041500.11021917
126Arachidonic acid metabolism_Homo sapiens_hsa005900.10986307
127* Colorectal cancer_Homo sapiens_hsa052100.08481934
128* Choline metabolism in cancer_Homo sapiens_hsa052310.07157070

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