SH2B3

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 SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. 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
1antigen processing and presentation of endogenous antigen (GO:0019883)5.44377296
2positive regulation of gamma-delta T cell activation (GO:0046645)5.10244924
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.04441646
4antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.04441646
5positive regulation of B cell differentiation (GO:0045579)4.95771983
6regulation of interferon-beta biosynthetic process (GO:0045357)4.81602819
7response to peptidoglycan (GO:0032494)4.78351996
8regulation of interleukin-12 biosynthetic process (GO:0045075)4.57105944
9regulation of B cell receptor signaling pathway (GO:0050855)4.50379067
10regulation of gamma-delta T cell differentiation (GO:0045586)4.32353901
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.32044404
12B cell receptor signaling pathway (GO:0050853)4.28620014
13regulation of B cell differentiation (GO:0045577)4.15790953
14regulation of gamma-delta T cell activation (GO:0046643)3.94279553
15positive regulation by symbiont of host defense response (GO:0052509)3.78469602
16modulation by symbiont of host defense response (GO:0052031)3.78469602
17modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.78469602
18modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.78469602
19positive regulation by organism of defense response of other organism involved in symbiotic interact3.78469602
20modulation by symbiont of host immune response (GO:0052553)3.78469602
21positive thymic T cell selection (GO:0045059)3.71893101
22negative regulation of granulocyte differentiation (GO:0030853)3.69964695
23detection of molecule of bacterial origin (GO:0032490)3.56517662
24detection of other organism (GO:0098543)3.55203731
25lipopolysaccharide-mediated signaling pathway (GO:0031663)3.49905203
26positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.49381204
27NIK/NF-kappaB signaling (GO:0038061)3.44720899
28immunoglobulin mediated immune response (GO:0016064)3.43568114
29macrophage activation involved in immune response (GO:0002281)3.42746690
30positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.38636884
31negative regulation of phagocytosis (GO:0050765)3.36473323
32positive regulation of interferon-alpha production (GO:0032727)3.35552889
33regulation of mast cell degranulation (GO:0043304)3.33021912
34endothelial tube morphogenesis (GO:0061154)3.23550121
35morphogenesis of an endothelium (GO:0003159)3.23550121
36detection of bacterium (GO:0016045)3.23026632
37detection of external biotic stimulus (GO:0098581)3.21659066
38positive regulation of mast cell activation (GO:0033005)3.17797937
39regulation of interferon-alpha production (GO:0032647)3.15156820
40myeloid cell activation involved in immune response (GO:0002275)3.06203510
41regulation of mast cell activation involved in immune response (GO:0033006)3.06017132
42antigen processing and presentation via MHC class Ib (GO:0002475)3.05398792
43response to host immune response (GO:0052572)3.04413051
44response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.04413051
45positive regulation of histone deacetylation (GO:0031065)3.04145201
46detection of biotic stimulus (GO:0009595)3.02510436
47mature B cell differentiation (GO:0002335)3.01390245
48regulation of leukocyte degranulation (GO:0043300)3.01257755
49Arp2/3 complex-mediated actin nucleation (GO:0034314)3.00631230
50JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.99955614
51positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.99141223
52response to host (GO:0075136)2.98237410
53response to host defenses (GO:0052200)2.98237410
54response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.98237410
55cellular extravasation (GO:0045123)2.97872612
56natural killer cell differentiation (GO:0001779)2.96727389
57negative regulation of cell killing (GO:0031342)2.96272786
58negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.96272786
59myeloid dendritic cell differentiation (GO:0043011)2.94838170
60regulation of mast cell activation (GO:0033003)2.92837515
61regulation of myeloid leukocyte mediated immunity (GO:0002886)2.92641417
62pinocytosis (GO:0006907)2.89771624
63microglial cell activation (GO:0001774)2.88441960
64cellular response to zinc ion (GO:0071294)2.87658085
65granulocyte activation (GO:0036230)2.87536612
66myeloid dendritic cell activation (GO:0001773)2.86657128
67negative regulation of interleukin-12 production (GO:0032695)2.86431415
68negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.86293544
69positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.85783841
70response to laminar fluid shear stress (GO:0034616)2.85546465
71cellular response to thyroid hormone stimulus (GO:0097067)2.84504694
72positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.84262520
73tolerance induction (GO:0002507)2.81988970
74negative regulation of erythrocyte differentiation (GO:0045647)2.81666572
75mannose metabolic process (GO:0006013)2.80447687
76positive regulation of antigen processing and presentation (GO:0002579)2.78486347
77positive regulation of mast cell activation involved in immune response (GO:0033008)2.76424970
78positive regulation of mast cell degranulation (GO:0043306)2.76424970
79protein localization to endosome (GO:0036010)2.75209426
80negative regulation of B cell proliferation (GO:0030889)2.74371914
81neutrophil activation involved in immune response (GO:0002283)2.69897195
82positive regulation of isotype switching (GO:0045830)2.69841816
83I-kappaB phosphorylation (GO:0007252)2.69322505
84regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.68953225
85regulation of tolerance induction (GO:0002643)2.68010562
86response to muramyl dipeptide (GO:0032495)2.67479351
87regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.66870179
88positive regulation of macrophage cytokine production (GO:0060907)2.66154078
89regulation of platelet aggregation (GO:0090330)2.64333228
90defense response to protozoan (GO:0042832)2.62066000
91positive regulation of cellular amide metabolic process (GO:0034250)2.61231631
92regulation of T cell tolerance induction (GO:0002664)2.60579398
93thymic T cell selection (GO:0045061)2.60294977
94regulation of type I interferon-mediated signaling pathway (GO:0060338)2.59748537
95negative regulation of interleukin-6 production (GO:0032715)2.59445552
96positive regulation of leukocyte degranulation (GO:0043302)2.58805505
97regulation of antigen processing and presentation (GO:0002577)2.58535761
98germinal center formation (GO:0002467)2.57061403
99regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.56926754
100regulation of interleukin-17 production (GO:0032660)2.56734520
101mature B cell differentiation involved in immune response (GO:0002313)2.56586442
102angiogenesis involved in wound healing (GO:0060055)2.56493743
103regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.56246169
104positive regulation of interferon-beta production (GO:0032728)2.56120326
105positive regulation of macrophage differentiation (GO:0045651)2.55819971
106B cell homeostasis (GO:0001782)2.55212156
107positive regulation of chemokine biosynthetic process (GO:0045080)2.54442443
108T cell migration (GO:0072678)2.54069315
109B cell mediated immunity (GO:0019724)2.53866495
110dendritic cell differentiation (GO:0097028)2.53625085
111regulation of T-helper 2 cell differentiation (GO:0045628)2.53585448
112positive regulation of natural killer cell differentiation (GO:0032825)2.53466211
113response to protozoan (GO:0001562)2.52989017
114positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.52816937
115lymphocyte homeostasis (GO:0002260)2.51877956
116positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.51863174
117interferon-gamma-mediated signaling pathway (GO:0060333)2.51628471
118germ cell migration (GO:0008354)2.51508709
119myeloid leukocyte activation (GO:0002274)2.51118753
120positive regulation of protein deacetylation (GO:0090312)2.50812121
121negative thymic T cell selection (GO:0045060)2.50591692
122T-helper 1 type immune response (GO:0042088)2.50543679
123T cell homeostasis (GO:0043029)2.49458510
124negative regulation of bone resorption (GO:0045779)2.48591783
125regulation of B cell proliferation (GO:0030888)2.48558576
126response to interleukin-15 (GO:0070672)2.47993961
127positive regulation of interleukin-17 production (GO:0032740)2.47370760
128neutrophil mediated immunity (GO:0002446)2.46811892
129positive regulation of B cell activation (GO:0050871)2.46605908
130lymph node development (GO:0048535)2.46138470
131vascular endothelial growth factor signaling pathway (GO:0038084)2.44661697
132macrophage activation (GO:0042116)2.43951455
133leukocyte aggregation (GO:0070486)2.43008445
134B cell proliferation (GO:0042100)2.42077475
135growth hormone receptor signaling pathway (GO:0060396)2.39950443
136positive regulation of lamellipodium assembly (GO:0010592)2.39062179
137regulation of macrophage cytokine production (GO:0010935)2.37364895
138regulation of necroptotic process (GO:0060544)2.37143852
139regulation of granulocyte differentiation (GO:0030852)2.37021636
140respiratory burst (GO:0045730)2.36810340
141regulation of B cell apoptotic process (GO:0002902)2.35450306
142regulation of interleukin-12 production (GO:0032655)2.35154992
143regulation of response to interferon-gamma (GO:0060330)2.34858441
144positive regulation of cell adhesion mediated by integrin (GO:0033630)2.34824115
145neutrophil activation (GO:0042119)2.33490595
146positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.33392456
147regulation of dendritic cell antigen processing and presentation (GO:0002604)2.32101731
148negative T cell selection (GO:0043383)2.31272675

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.33228106
2EGR1_19374776_ChIP-ChIP_THP-1_Human3.64947795
3MYC_22102868_ChIP-Seq_BL_Human3.38587967
4IRF8_21731497_ChIP-ChIP_J774_Mouse3.24234817
5NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.18504886
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.11543339
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.03085416
8* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.91393212
9VDR_21846776_ChIP-Seq_THP-1_Human2.90937195
10* IRF8_27001747_Chip-Seq_BMDM_Mouse2.86986456
11* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.70951297
12SCL_19346495_ChIP-Seq_HPC-7_Human2.62502368
13NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.57752551
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.56641318
15IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.55639840
16SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.50694904
17TCF7_22412390_ChIP-Seq_EML_Mouse2.42158284
18E2F7_22180533_ChIP-Seq_HELA_Human2.34498094
19* MAF_26560356_Chip-Seq_TH1_Human2.33568565
20SMAD_19615063_ChIP-ChIP_OVARY_Human2.31426650
21* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.23532064
22BP1_19119308_ChIP-ChIP_Hs578T_Human2.17811399
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.17070945
24* VDR_24763502_ChIP-Seq_THP-1_Human2.11228523
25* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.10640853
26FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.08050010
27* MYB_26560356_Chip-Seq_TH2_Human2.04408018
28RUNX_20019798_ChIP-Seq_JUKART_Human2.03824241
29* ELK3_25401928_ChIP-Seq_HUVEC_Human2.03511083
30UTX_26944678_Chip-Seq_JUKART_Human2.01966498
31* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.01234950
32* MYB_26560356_Chip-Seq_TH1_Human1.99166874
33STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.98287864
34* STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.97868016
35ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.97818104
36FOXM1_23109430_ChIP-Seq_U2OS_Human1.96227000
37* SPI1_23547873_ChIP-Seq_NB4_Human1.91047520
38* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.89652042
39IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.89580339
40RUNX1_22412390_ChIP-Seq_EML_Mouse1.89341610
41KDM2B_26808549_Chip-Seq_DND41_Human1.88388574
42SPI1_23127762_ChIP-Seq_K562_Human1.86310269
43* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.78981915
44* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.78968989
45* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.77051505
46STAT4_19710469_ChIP-ChIP_TH1__Mouse1.75906687
47STAT6_21828071_ChIP-Seq_BEAS2B_Human1.72185019
48TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62548835
49RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.59444084
50MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.47766741
51MAF_26560356_Chip-Seq_TH2_Human1.46362709
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.45643178
53GATA1_22025678_ChIP-Seq_K562_Human1.44386751
54PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.41961224
55Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.40933357
56TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.39835217
57TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.37908130
58PU_27001747_Chip-Seq_BMDM_Mouse1.37836512
59NOTCH1_21737748_ChIP-Seq_TLL_Human1.37199614
60GATA1_22383799_ChIP-Seq_G1ME_Mouse1.35116441
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.35078614
62THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33763150
63* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31420007
64* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.30014972
65* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.27475419
66NCOR1_26117541_ChIP-Seq_K562_Human1.26410131
67SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25400166
68GATA3_27048872_Chip-Seq_THYMUS_Human1.24874254
69* LXR_22292898_ChIP-Seq_THP-1_Human1.21112554
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.19358673
71NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.18859431
72GATA2_21666600_ChIP-Seq_HMVEC_Human1.17579130
73GATA1_19941827_ChIP-Seq_MEL_Mouse1.16612736
74PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.16255599
75CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14578824
76TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14511141
77PPARA_22158963_ChIP-Seq_LIVER_Mouse1.13200081
78GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10616785
79FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.09164907
80RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.07842075
81ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.06129291
82* TFEB_21752829_ChIP-Seq_HELA_Human1.05970961
83CLOCK_20551151_ChIP-Seq_293T_Human1.05573537
84CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.05342913
85* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04822196
86CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04715261
87EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.03652480
88CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02261244
89CIITA_25753668_ChIP-Seq_RAJI_Human1.00423939
90KDM2B_26808549_Chip-Seq_JURKAT_Human0.99847119
91VDR_24787735_ChIP-Seq_THP-1_Human0.95565555
92PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95421750
93VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.95233704
94CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.95144544
95* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94735252
96* GATA1_19941826_ChIP-Seq_K562_Human0.94052459
97SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.93635993
98TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93128594
99RARG_19884340_ChIP-ChIP_MEFs_Mouse0.92701843
100LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.92380209
101GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.91886018
102SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90168680
103* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88763220
104SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.88596449
105SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.88596449
106* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.88527115
107SPI1_20517297_ChIP-Seq_HL60_Human0.87651959
108RACK7_27058665_Chip-Seq_MCF-7_Human0.86990746
109* GATA3_26560356_Chip-Seq_TH2_Human0.86821221
110PU.1_20513432_ChIP-Seq_Bcells_Mouse0.86746959
111* GATA2_19941826_ChIP-Seq_K562_Human0.85322073
112* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84895330
113RXR_22158963_ChIP-Seq_LIVER_Mouse0.83312846
114PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83127224
115PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82492221

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.72568466
2MP0003303_peritoneal_inflammation3.17843772
3MP0000685_abnormal_immune_system2.96131955
4MP0001790_abnormal_immune_system2.74468645
5MP0005387_immune_system_phenotype2.74468645
6MP0001800_abnormal_humoral_immune2.74244477
7MP0003300_gastrointestinal_ulcer2.57770762
8MP0003436_decreased_susceptibility_to2.53608263
9MP0002452_abnormal_antigen_presenting2.41023369
10MP0004510_myositis2.30096122
11MP0009278_abnormal_bone_marrow2.27006586
12MP0005000_abnormal_immune_tolerance2.23105943
13MP0002723_abnormal_immune_serum2.14415470
14MP0002419_abnormal_innate_immunity2.06438915
15MP0002420_abnormal_adaptive_immunity2.04613055
16MP0002396_abnormal_hematopoietic_system2.04154011
17MP0001819_abnormal_immune_cell2.02446813
18MP0005671_abnormal_response_to2.01688937
19MP0002166_altered_tumor_susceptibility1.95967394
20MP0005025_abnormal_response_to1.93344107
21* MP0002398_abnormal_bone_marrow1.92432171
22MP0005464_abnormal_platelet_physiology1.88037565
23MP0003191_abnormal_cellular_cholesterol1.85572394
24MP0002405_respiratory_system_inflammati1.81720354
25* MP0004808_abnormal_hematopoietic_stem1.80851847
26MP0009785_altered_susceptibility_to1.80454250
27MP0009840_abnormal_foam_cell1.80197556
28MP0010368_abnormal_lymphatic_system1.78593315
29* MP0000716_abnormal_immune_system1.75571202
30* MP0000689_abnormal_spleen_morphology1.74635570
31MP0005058_abnormal_lysosome_morphology1.68659039
32MP0001873_stomach_inflammation1.68087224
33MP0001853_heart_inflammation1.67590462
34MP0000465_gastrointestinal_hemorrhage1.66613801
35MP0005451_abnormal_body_composition1.65738009
36MP0001545_abnormal_hematopoietic_system1.65322898
37MP0005397_hematopoietic_system_phenotyp1.65322898
38MP0006082_CNS_inflammation1.62790115
39MP0002148_abnormal_hypersensitivity_rea1.62429113
40MP0003705_abnormal_hypodermis_morpholog1.58753559
41* MP0002722_abnormal_immune_system1.57941873
42MP0003763_abnormal_thymus_physiology1.56025585
43MP0003828_pulmonary_edema1.55277158
44MP0009333_abnormal_splenocyte_physiolog1.54733917
45MP0002138_abnormal_hepatobiliary_system1.53824603
46* MP0002429_abnormal_blood_cell1.51508936
47MP0001879_abnormal_lymphatic_vessel1.50702647
48MP0003566_abnormal_cell_adhesion1.44968913
49MP0001845_abnormal_inflammatory_respons1.44520273
50MP0010155_abnormal_intestine_physiology1.43464656
51MP0004947_skin_inflammation1.43438243
52MP0003279_aneurysm1.39787516
53MP0008260_abnormal_autophagy1.37530211
54MP0003172_abnormal_lysosome_physiology1.35945381
55MP0008004_abnormal_stomach_pH1.35008057
56MP0001533_abnormal_skeleton_physiology1.33876436
57MP0010352_gastrointestinal_tract_polyps1.32584575
58MP0003656_abnormal_erythrocyte_physiolo1.31135537
59MP0010307_abnormal_tumor_latency1.30779225
60MP0002006_tumorigenesis1.26149954
61MP0000703_abnormal_thymus_morphology1.24788394
62MP0003724_increased_susceptibility_to1.24737658
63MP0005164_abnormal_response_to1.23264006
64MP0005076_abnormal_cell_differentiation1.18484363
65MP0000767_abnormal_smooth_muscle1.17133712
66MP0008469_abnormal_protein_level1.14775135
67MP0002933_joint_inflammation1.13279688
68MP0000343_altered_response_to1.11220531
69MP0000604_amyloidosis1.08118648
70MP0003448_altered_tumor_morphology1.05366382
71MP0000249_abnormal_blood_vessel1.03512606
72MP0005174_abnormal_tail_pigmentation1.01403179
73MP0003866_abnormal_defecation1.01008070
74MP0003950_abnormal_plasma_membrane0.98844845
75MP0005023_abnormal_wound_healing0.98203457
76MP0005390_skeleton_phenotype0.96393665
77MP0003091_abnormal_cell_migration0.96197137
78MP0005310_abnormal_salivary_gland0.94381307
79MP0008438_abnormal_cutaneous_collagen0.93758315
80MP0000858_altered_metastatic_potential0.92832956
81MP0000733_abnormal_muscle_development0.92660548
82MP0005165_increased_susceptibility_to0.92633318
83MP0000490_abnormal_crypts_of0.92582453
84MP0000569_abnormal_digit_pigmentation0.91556306
85MP0010630_abnormal_cardiac_muscle0.89936751
86MP0005670_abnormal_white_adipose0.88181913
87MP0002332_abnormal_exercise_endurance0.85326329
88MP0001851_eye_inflammation0.85290749
89MP0004130_abnormal_muscle_cell0.84410211
90MP0005167_abnormal_blood-brain_barrier0.84328331
91MP0006054_spinal_hemorrhage0.83997889
92MP0000609_abnormal_liver_physiology0.83086633
93MP0002998_abnormal_bone_remodeling0.81707786
94MP0000015_abnormal_ear_pigmentation0.81303151
95MP0003795_abnormal_bone_structure0.80938130
96MP0008961_abnormal_basal_metabolism0.80547641
97MP0001663_abnormal_digestive_system0.80054345
98MP0001915_intracranial_hemorrhage0.79888473
99MP0003183_abnormal_peptide_metabolism0.79856386
100MP0004084_abnormal_cardiac_muscle0.79272913
101MP0002019_abnormal_tumor_incidence0.78839662
102MP0002928_abnormal_bile_duct0.76317629
103MP0003453_abnormal_keratinocyte_physiol0.75873377
104MP0001958_emphysema0.74197849
105MP0009764_decreased_sensitivity_to0.74011299
106MP0000598_abnormal_liver_morphology0.73694098
107MP0003075_altered_response_to0.71393950
108MP0002877_abnormal_melanocyte_morpholog0.71208867
109MP0003690_abnormal_glial_cell0.70608074
110MP0002136_abnormal_kidney_physiology0.70571645
111MP0001542_abnormal_bone_strength0.70522487
112MP0005166_decreased_susceptibility_to0.70369862
113MP0002132_abnormal_respiratory_system0.68091763
114MP0002128_abnormal_blood_circulation0.67057618
115MP0009763_increased_sensitivity_to0.64367563
116MP0000371_diluted_coat_color0.63518777
117MP0004883_abnormal_blood_vessel0.62454202

Predicted human phenotypes

RankGene SetZ-score
1Colitis (HP:0002583)4.27748859
2Cellulitis (HP:0100658)4.08529224
3Agammaglobulinemia (HP:0004432)4.08463181
4Recurrent abscess formation (HP:0002722)4.06981854
5Abnormality of liposaccharide metabolism (HP:0010968)3.97972863
6Abnormality of glycosphingolipid metabolism (HP:0004343)3.97972863
7Abnormality of glycolipid metabolism (HP:0010969)3.97972863
8Eczematoid dermatitis (HP:0000976)3.93914192
9Inflammation of the large intestine (HP:0002037)3.85080460
10Gastrointestinal inflammation (HP:0004386)3.79276415
11Recurrent bacterial skin infections (HP:0005406)3.74385077
12Abnormality of the nasal mucosa (HP:0000433)3.66729315
13Hematochezia (HP:0002573)3.66467245
14Recurrent viral infections (HP:0004429)3.65554719
15Recurrent bronchitis (HP:0002837)3.49845764
16Nasal polyposis (HP:0100582)3.42122985
17Spontaneous hematomas (HP:0007420)3.41391126
18Abnormal delayed hypersensitivity skin test (HP:0002963)3.38741673
19Stomatitis (HP:0010280)3.33202630
20Chronic otitis media (HP:0000389)3.30453849
21Cerebral aneurysm (HP:0004944)3.22991383
22Recurrent fungal infections (HP:0002841)3.22393174
23Systemic lupus erythematosus (HP:0002725)3.21345893
24Myositis (HP:0100614)3.18885497
25IgM deficiency (HP:0002850)3.14625940
26Panhypogammaglobulinemia (HP:0003139)3.09792261
27Gastrointestinal stroma tumor (HP:0100723)3.02182015
28Elevated erythrocyte sedimentation rate (HP:0003565)3.01329126
29Papilloma (HP:0012740)2.94418205
30Verrucae (HP:0200043)2.94418205
31Meningitis (HP:0001287)2.93748895
32Petechiae (HP:0000967)2.79129391
33Amyloidosis (HP:0011034)2.77163715
34Autoimmune thrombocytopenia (HP:0001973)2.73202913
35Osteomyelitis (HP:0002754)2.67766933
36Mediastinal lymphadenopathy (HP:0100721)2.66264171
37Recurrent skin infections (HP:0001581)2.64647882
38Aortic aneurysm (HP:0004942)2.63213092
39Vasculitis (HP:0002633)2.62976111
40Emphysema (HP:0002097)2.61104441
41Orchitis (HP:0100796)2.57164498
42Abnormality of the fingertips (HP:0001211)2.56515359
43Recurrent gram-negative bacterial infections (HP:0005420)2.55833593
44Hemoptysis (HP:0002105)2.50169117
45Glomerulonephritis (HP:0000099)2.50037787
46Interstitial pulmonary disease (HP:0006530)2.44032040
47Abnormal platelet volume (HP:0011876)2.42910037
48Chronic mucocutaneous candidiasis (HP:0002728)2.42229159
49Recurrent cutaneous fungal infections (HP:0011370)2.42229159
50Recurrent sinusitis (HP:0011108)2.39715689
51Increased density of long bones (HP:0006392)2.39442189
52Purpura (HP:0000979)2.38799608
53Pustule (HP:0200039)2.35202261
54Vacuolated lymphocytes (HP:0001922)2.34969658
55* Myocardial infarction (HP:0001658)2.34940801
56Urticaria (HP:0001025)2.33105336
57T lymphocytopenia (HP:0005403)2.30038681
58Abnormality of T cell physiology (HP:0011840)2.29877410
59Prolonged bleeding time (HP:0003010)2.28825926
60Increased cerebral lipofuscin (HP:0011813)2.28483446
61Osteolytic defects of the phalanges of the hand (HP:0009771)2.27910368
62Osteolytic defects of the hand bones (HP:0009699)2.27910368
63Abnormality of the vasculature of the conjunctiva (HP:0008054)2.24401674
64Lymphopenia (HP:0001888)2.22180363
65Dysostosis multiplex (HP:0000943)2.21138325
66Abnormality of macrophages (HP:0004311)2.20906587
67Abnormality of T cell number (HP:0011839)2.20651819
68Keratoconjunctivitis sicca (HP:0001097)2.18187547
69Abnormality of cells of the lymphoid lineage (HP:0012140)2.16824641
70Bicuspid aortic valve (HP:0001647)2.11594580
71Increased IgE level (HP:0003212)2.11379334
72Leukocytosis (HP:0001974)2.11178288
73Asymmetric septal hypertrophy (HP:0001670)2.10424208
74Increased mean platelet volume (HP:0011877)2.10271672
75Retrobulbar optic neuritis (HP:0100654)2.09086975
76Optic neuritis (HP:0100653)2.09086975
77Bronchitis (HP:0012387)2.08964169
78Abnormality of T cells (HP:0002843)2.07865570
79Periodontitis (HP:0000704)2.07861064
80Complement deficiency (HP:0004431)2.07715021
81Thoracic kyphosis (HP:0002942)2.06766434
82Restrictive lung disease (HP:0002091)2.06624420
83Increased serum ferritin (HP:0003281)2.06175844
84Encephalitis (HP:0002383)2.05817455
85Epistaxis (HP:0000421)2.05675682
86Chronic sinusitis (HP:0011109)2.05459521
87* Chest pain (HP:0100749)2.04472579
88Vertebral compression fractures (HP:0002953)2.03946832
89Mitral stenosis (HP:0001718)2.03866285
90Pulmonary infiltrates (HP:0002113)2.03815550
91Dilatation of the ascending aorta (HP:0005111)2.03476679
92* Arterial thrombosis (HP:0004420)2.03284517
93Peritonitis (HP:0002586)2.02352574
94Recurrent lower respiratory tract infections (HP:0002783)2.02220244
95B lymphocytopenia (HP:0010976)1.99862931
96Abnormality of B cell number (HP:0010975)1.99862931
97IgA deficiency (HP:0002720)1.99786111
98Obstructive lung disease (HP:0006536)1.98490953
99Chronic obstructive pulmonary disease (HP:0006510)1.98490953
100Mucopolysacchariduria (HP:0008155)1.98204593
101Urinary glycosaminoglycan excretion (HP:0003541)1.98204593
102Loss of speech (HP:0002371)1.98167070
103Gingival bleeding (HP:0000225)1.97233035
104Viral hepatitis (HP:0006562)1.97145333
105Glomerulopathy (HP:0100820)1.96682427
106Gingivitis (HP:0000230)1.96504074
107Menorrhagia (HP:0000132)1.96441687
108Disproportionate tall stature (HP:0001519)1.96139413
109Conjunctival telangiectasia (HP:0000524)1.95298784
110Increased IgM level (HP:0003496)1.94439003
111Hepatosplenomegaly (HP:0001433)1.94301188
112Gastrointestinal infarctions (HP:0005244)1.94258942
113Spondylolisthesis (HP:0003302)1.93977441
114Abnormality of complement system (HP:0005339)1.93533787
115Episodic fever (HP:0001954)1.92864976
116Keratoconjunctivitis (HP:0001096)1.92624038
117Pulmonary embolism (HP:0002204)1.91694416
118* Polycythemia (HP:0001901)1.87090460
119Abnormality of the thoracic spine (HP:0100711)1.86258068
120Thyroiditis (HP:0100646)1.86181994
121Abnormality of mucopolysaccharide metabolism (HP:0011020)1.85444618
122Abnormality of polysaccharide metabolism (HP:0011012)1.85444618
123Abnormality of glycosaminoglycan metabolism (HP:0004371)1.85444618
124Protrusio acetabuli (HP:0003179)1.85248456
125Nephritis (HP:0000123)1.84125694
126Esophageal varix (HP:0002040)1.83967418
127Increased neuronal autofluorescent lipopigment (HP:0002074)1.83869515
128Spinal cord lesions (HP:0100561)1.83153329
129Syringomyelia (HP:0003396)1.83153329
130Striae distensae (HP:0001065)1.82117300
131Hypertensive crisis (HP:0100735)1.81376748
132Skin ulcer (HP:0200042)1.81150277
133Abnormality of the peritoneum (HP:0002585)1.81003412
134Recurrent pneumonia (HP:0006532)1.80987121
135Increased CSF protein (HP:0002922)1.80527453
136* Impaired platelet aggregation (HP:0003540)1.79521116
137* Abnormal platelet function (HP:0011869)1.79521116
138Increased connective tissue (HP:0009025)1.79294154
139Mucosal telangiectasiae (HP:0100579)1.78124409
140Premature rupture of membranes (HP:0001788)1.77529200

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.37347680
2PRPF4B3.37181070
3ERN13.22744589
4TRIB33.00934505
5MAP3K102.94236709
6TGFBR22.93178892
7PKN22.57193999
8EEF2K2.36617782
9TYK22.31981115
10CSF1R2.11126902
11BTK2.02173258
12MAP2K32.01834563
13STK102.01444546
14KIT1.99189691
15BLK1.92452486
16JAK31.85049408
17TBK11.82837153
18CDK121.82707727
19BMPR21.79832810
20SIK31.71519721
21LRRK21.67377900
22TTN1.63354045
23TIE11.59919914
24EPHB11.54758540
25MAP3K141.51049429
26KDR1.50508973
27TAOK21.50369529
28JAK11.47511048
29MOS1.45558783
30SIK21.45240103
31SYK1.43917900
32IRAK41.43162164
33IKBKB1.38512937
34PTK61.37983270
35HCK1.37228500
36FGR1.35947045
37GRK61.32355619
38CSK1.28889050
39FLT31.26461467
40NEK21.25793474
41* ZAP701.18338522
42FGFR41.18060157
43TEC1.15151145
44IRAK31.14440717
45ITK1.13739538
46PIK3CG1.12868234
47MAP3K11.12115427
48MAP3K131.11674609
49CAMK1D1.11592584
50IKBKE1.10867882
51KSR21.09384917
52RIPK41.07839839
53RPS6KA41.06023917
54RIPK11.05392562
55TGFBR11.04684698
56PIM11.02816786
57CHUK1.02154697
58CAMK1G0.99369962
59CDC42BPA0.97718421
60TRPM70.95751843
61MAP3K30.95413373
62* LCK0.92280377
63PAK40.90058027
64CDK40.87415753
65CDK60.87276950
66SIK10.85986064
67FES0.85059154
68LYN0.84647108
69FGFR30.84612075
70NEK90.84239072
71MAPK70.83142033
72IRAK20.79800023
73CLK10.79587345
74DDR20.79323780
75IRAK10.78357415
76TAOK30.77713029
77MARK30.77548189
78PDPK10.76672169
79KSR10.75548901
80SMG10.74725563
81JAK20.73706043
82STK40.71426876
83GRK70.69572024
84CDK90.67477814
85MAP3K80.66862460
86BRD40.65483942
87PDGFRA0.64479843
88MAP3K70.63031926
89MAP3K60.62677195
90YES10.62023517
91STK30.61643399
92TAOK10.61102881
93MAP3K110.57446524
94MAPK120.56608823
95DMPK0.56546284
96SCYL20.56145121
97PIM20.55905374
98MAP3K50.55573910
99MTOR0.54655777
100PTK2B0.54600073
101TNK20.54332628
102PAK20.52401657
103ABL10.51686209
104PDK10.51317582
105MAPKAPK20.49898741
106MATK0.49361567
107PRKG20.47937962
108HIPK20.47066330
109NLK0.46456697
110MAPK110.46015888
111PRKD10.46014812
112EGFR0.45812511
113ALK0.45775247
114PDGFRB0.43630815
115TXK0.42824189
116RPS6KC10.42212201
117RPS6KL10.42212201
118ERBB40.41770492
119SGK30.41535470
120MARK20.41212891
121MAPK40.41078472
122DYRK1B0.40573176
123PRKAA20.40355428
124MAP3K20.39067209
125MELK0.38930445
126PRKD20.38871931
127RPS6KA60.38706570
128ICK0.38206528
129PRKCH0.37301477
130NME20.37026184
131EPHA30.32710426
132MAPKAPK30.32655537
133BMX0.32495880

Predicted pathways (KEGG)

RankGene SetZ-score
1B cell receptor signaling pathway_Homo sapiens_hsa046623.45230160
2Primary immunodeficiency_Homo sapiens_hsa053402.83775247
3Osteoclast differentiation_Homo sapiens_hsa043802.67289298
4Leishmaniasis_Homo sapiens_hsa051402.63664633
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.44854781
6Staphylococcus aureus infection_Homo sapiens_hsa051502.20166987
7Antigen processing and presentation_Homo sapiens_hsa046122.11507514
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.03893001
9Autoimmune thyroid disease_Homo sapiens_hsa053202.03485009
10Toxoplasmosis_Homo sapiens_hsa051451.90929432
11Measles_Homo sapiens_hsa051621.87890968
12Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.85443826
13Toll-like receptor signaling pathway_Homo sapiens_hsa046201.81049270
14Intestinal immune network for IgA production_Homo sapiens_hsa046721.73020148
15Hematopoietic cell lineage_Homo sapiens_hsa046401.71008434
16Chronic myeloid leukemia_Homo sapiens_hsa052201.68265788
17Other glycan degradation_Homo sapiens_hsa005111.55714327
18Rheumatoid arthritis_Homo sapiens_hsa053231.54826649
19Acute myeloid leukemia_Homo sapiens_hsa052211.54321166
20Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.52753935
21Type I diabetes mellitus_Homo sapiens_hsa049401.52339949
22Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.50996349
23Tuberculosis_Homo sapiens_hsa051521.47557025
24Leukocyte transendothelial migration_Homo sapiens_hsa046701.44868720
25Pertussis_Homo sapiens_hsa051331.43255596
26Herpes simplex infection_Homo sapiens_hsa051681.43136669
27T cell receptor signaling pathway_Homo sapiens_hsa046601.41571059
28Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.39004856
29Legionellosis_Homo sapiens_hsa051341.38202713
30Jak-STAT signaling pathway_Homo sapiens_hsa046301.37525927
31Influenza A_Homo sapiens_hsa051641.36838971
32Apoptosis_Homo sapiens_hsa042101.34503505
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.33384684
34AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.33324640
35Platelet activation_Homo sapiens_hsa046111.31621253
36Shigellosis_Homo sapiens_hsa051311.31046890
37Phagosome_Homo sapiens_hsa041451.29331960
38Viral myocarditis_Homo sapiens_hsa054161.26840219
39Hepatitis B_Homo sapiens_hsa051611.25319986
40Malaria_Homo sapiens_hsa051441.25087112
41Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.23603678
42Small cell lung cancer_Homo sapiens_hsa052221.23511958
43Pancreatic cancer_Homo sapiens_hsa052121.21164495
44NOD-like receptor signaling pathway_Homo sapiens_hsa046211.20849725
45TNF signaling pathway_Homo sapiens_hsa046681.20552198
46Chemokine signaling pathway_Homo sapiens_hsa040621.14257661
47RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.14007668
48Lysosome_Homo sapiens_hsa041421.12433592
49Transcriptional misregulation in cancer_Homo sapiens_hsa052021.11365709
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10698945
51Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.08134996
52Bladder cancer_Homo sapiens_hsa052191.01128418
53Insulin resistance_Homo sapiens_hsa049311.01124782
54Salmonella infection_Homo sapiens_hsa051320.97613583
55Notch signaling pathway_Homo sapiens_hsa043300.94414388
56Epstein-Barr virus infection_Homo sapiens_hsa051690.92807407
57VEGF signaling pathway_Homo sapiens_hsa043700.91752373
58HTLV-I infection_Homo sapiens_hsa051660.91573955
59Complement and coagulation cascades_Homo sapiens_hsa046100.88628166
60Caffeine metabolism_Homo sapiens_hsa002320.87212116
61Lysine degradation_Homo sapiens_hsa003100.87120543
62Adipocytokine signaling pathway_Homo sapiens_hsa049200.87055944
63Non-small cell lung cancer_Homo sapiens_hsa052230.86958588
64Viral carcinogenesis_Homo sapiens_hsa052030.84659376
65* Neurotrophin signaling pathway_Homo sapiens_hsa047220.84519619
66HIF-1 signaling pathway_Homo sapiens_hsa040660.78160729
67Proteoglycans in cancer_Homo sapiens_hsa052050.77517455
68Amoebiasis_Homo sapiens_hsa051460.77192080
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.76619663
70Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.74433103
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73801613
72Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.72751670
73Focal adhesion_Homo sapiens_hsa045100.72652958
74Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.72631845
75Prolactin signaling pathway_Homo sapiens_hsa049170.70243594
76MicroRNAs in cancer_Homo sapiens_hsa052060.67957323
77Allograft rejection_Homo sapiens_hsa053300.67382489
78Hepatitis C_Homo sapiens_hsa051600.65848152
79mTOR signaling pathway_Homo sapiens_hsa041500.65393745
80Phospholipase D signaling pathway_Homo sapiens_hsa040720.64564280
81Endocytosis_Homo sapiens_hsa041440.61876389
82GnRH signaling pathway_Homo sapiens_hsa049120.59658786
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59393222
84p53 signaling pathway_Homo sapiens_hsa041150.59146365
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.57942141
86Pentose phosphate pathway_Homo sapiens_hsa000300.57682393
87Prion diseases_Homo sapiens_hsa050200.56967577
88Adherens junction_Homo sapiens_hsa045200.55971643
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55444482
90Endometrial cancer_Homo sapiens_hsa052130.55288102
91FoxO signaling pathway_Homo sapiens_hsa040680.53410129
92Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.52587524
93Colorectal cancer_Homo sapiens_hsa052100.52224590
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50980444
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46053379
96Glioma_Homo sapiens_hsa052140.45721164
97ABC transporters_Homo sapiens_hsa020100.45219964
98Rap1 signaling pathway_Homo sapiens_hsa040150.45074813
99Thyroid cancer_Homo sapiens_hsa052160.44267468
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43960715
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43016018
102Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42922373
103Base excision repair_Homo sapiens_hsa034100.42694754
104Renin-angiotensin system_Homo sapiens_hsa046140.42469815
105Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42385007
106Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41342675
107Renal cell carcinoma_Homo sapiens_hsa052110.39723115
108African trypanosomiasis_Homo sapiens_hsa051430.39594557
109Dorso-ventral axis formation_Homo sapiens_hsa043200.38345114
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38323296
111Pathways in cancer_Homo sapiens_hsa052000.37813350
112Prostate cancer_Homo sapiens_hsa052150.36313102
113Graft-versus-host disease_Homo sapiens_hsa053320.36131898
114MAPK signaling pathway_Homo sapiens_hsa040100.35673801
115Insulin signaling pathway_Homo sapiens_hsa049100.35281319
116Central carbon metabolism in cancer_Homo sapiens_hsa052300.34953941
117Inositol phosphate metabolism_Homo sapiens_hsa005620.33326649
118Asthma_Homo sapiens_hsa053100.32050598

Most similar genes based on co-expression Upload to Enrichr

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