NFATC2

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 is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of cell killing (GO:0031342)7.67688136
2negative regulation of leukocyte mediated cytotoxicity (GO:0001911)7.67688136
3positive regulation of gamma-delta T cell activation (GO:0046645)6.49664634
4positive thymic T cell selection (GO:0045059)6.25869237
5negative T cell selection (GO:0043383)5.73894664
6positive T cell selection (GO:0043368)5.63772027
7regulation of gamma-delta T cell differentiation (GO:0045586)5.62324372
8negative thymic T cell selection (GO:0045060)5.59606644
9response to interleukin-15 (GO:0070672)5.45210613
10interferon-gamma production (GO:0032609)5.17029829
11tolerance induction (GO:0002507)5.08156774
12regulation of gamma-delta T cell activation (GO:0046643)5.08115803
13thymic T cell selection (GO:0045061)5.06832500
14regulation of B cell receptor signaling pathway (GO:0050855)5.03609236
15cellular response to interleukin-15 (GO:0071350)5.00599274
16T cell selection (GO:0045058)4.73900831
17regulation of isotype switching to IgG isotypes (GO:0048302)4.71979534
18positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.64270783
19positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.57128447
20antigen processing and presentation of endogenous antigen (GO:0019883)4.30842663
21antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.30357259
22antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.30357259
23positive regulation of granulocyte differentiation (GO:0030854)4.29593048
24antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.28981569
25regulation of interleukin-12 biosynthetic process (GO:0045075)4.18057283
26T cell migration (GO:0072678)4.10483477
27positive regulation of isotype switching (GO:0045830)3.89652441
28leukocyte aggregation (GO:0070486)3.87491169
29regulation of interleukin-2 biosynthetic process (GO:0045076)3.81020364
30positive regulation of interleukin-2 production (GO:0032743)3.53007664
31regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.52460502
32T cell receptor signaling pathway (GO:0050852)3.52051872
33regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.47275910
34regulation of natural killer cell mediated immunity (GO:0002715)3.47275910
35activated T cell proliferation (GO:0050798)3.44078798
36negative regulation of bone resorption (GO:0045779)3.43159018
37regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.42947417
38regulation of B cell differentiation (GO:0045577)3.42519037
39positive regulation of DNA recombination (GO:0045911)3.42474190
40regulation of T cell tolerance induction (GO:0002664)3.41640590
41tyrosine phosphorylation of STAT protein (GO:0007260)3.41606483
42Peyers patch development (GO:0048541)3.36114768
43mucosal-associated lymphoid tissue development (GO:0048537)3.36114768
44JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.36059928
45T cell costimulation (GO:0031295)3.35635997
46negative regulation of T cell mediated immunity (GO:0002710)3.35443576
47CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.34894824
48negative regulation of interleukin-12 production (GO:0032695)3.32302339
49detection of bacterium (GO:0016045)3.31439686
50lymphocyte costimulation (GO:0031294)3.30535921
51positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.28923590
52positive regulation of natural killer cell mediated immunity (GO:0002717)3.28923590
53negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.27555056
54detection of other organism (GO:0098543)3.22866847
55defense response to protozoan (GO:0042832)3.22843723
56regulation of alpha-beta T cell proliferation (GO:0046640)3.20789960
57negative regulation of T-helper cell differentiation (GO:0045623)3.19992187
58negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.19992187
59regulation of isotype switching (GO:0045191)3.19878314
60positive regulation of interleukin-17 production (GO:0032740)3.17979575
61* antigen receptor-mediated signaling pathway (GO:0050851)3.14998266
62regulation of granulocyte differentiation (GO:0030852)3.14755820
63positive regulation by symbiont of host defense response (GO:0052509)3.12883306
64modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.12883306
65regulation of tolerance induction (GO:0002643)3.12247274
66negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.10467596
67regulation of leukocyte mediated cytotoxicity (GO:0001910)3.06370300
68response to type I interferon (GO:0034340)3.06304923
69type I interferon signaling pathway (GO:0060337)3.04388567
70cellular response to type I interferon (GO:0071357)3.04388567
71mature B cell differentiation (GO:0002335)3.03472474
72regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)3.02169007
73positive regulation of humoral immune response (GO:0002922)3.00509259
74positive regulation of immunoglobulin mediated immune response (GO:0002891)3.00406800
75positive regulation of B cell mediated immunity (GO:0002714)3.00406800
76immunoglobulin mediated immune response (GO:0016064)2.99533357
77T cell proliferation (GO:0042098)2.98951661
78positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.98041694
79response to protozoan (GO:0001562)2.96431784
80positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.96227315
81negative regulation of adaptive immune response (GO:0002820)2.95905953
82positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.95243261
83lymph node development (GO:0048535)2.95169071
84negative regulation of lymphocyte mediated immunity (GO:0002707)2.94974771
85regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.93816593
86positive regulation of alpha-beta T cell proliferation (GO:0046641)2.93749091
87regulation of cell killing (GO:0031341)2.93709878
88positive regulation of natural killer cell differentiation (GO:0032825)2.93371506
89germinal center formation (GO:0002467)2.93043431
90cellular extravasation (GO:0045123)2.92300746
91neutrophil activation involved in immune response (GO:0002283)2.91673008
92positive regulation of alpha-beta T cell activation (GO:0046635)2.89997819
93regulation of T cell receptor signaling pathway (GO:0050856)2.88419004
94T-helper cell differentiation (GO:0042093)2.86263835
95CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.86263835
96myeloid dendritic cell activation (GO:0001773)2.84795588
97regulation of interleukin-2 production (GO:0032663)2.81118812
98positive regulation of B cell differentiation (GO:0045579)2.81089121
99negative regulation of erythrocyte differentiation (GO:0045647)2.80765982
100* B cell receptor signaling pathway (GO:0050853)2.77870444
101myeloid dendritic cell differentiation (GO:0043011)2.75780037
102regulation of regulatory T cell differentiation (GO:0045589)2.75112307
103negative regulation of leukocyte mediated immunity (GO:0002704)2.73601117
104alpha-beta T cell activation (GO:0046631)2.72841912
105positive regulation of tolerance induction (GO:0002645)2.71770509
106T cell homeostasis (GO:0043029)2.71289725
107negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.70548082
108natural killer cell activation (GO:0030101)2.70165781
109response to muramyl dipeptide (GO:0032495)2.69603316
110regulation of immunoglobulin mediated immune response (GO:0002889)2.69569545
111leukocyte cell-cell adhesion (GO:0007159)2.69489807
112regulation of interferon-beta biosynthetic process (GO:0045357)2.68726420
113T cell differentiation (GO:0030217)2.68471365
114mast cell activation (GO:0045576)2.68438228
115antigen processing and presentation via MHC class Ib (GO:0002475)2.67342557
116positive regulation of cell killing (GO:0031343)2.67337542
117alpha-beta T cell differentiation (GO:0046632)2.66766086
118positive regulation of interferon-gamma production (GO:0032729)2.66476939
119negative regulation of bone remodeling (GO:0046851)2.66204008
120regulation of T cell mediated cytotoxicity (GO:0001914)2.66072417
121regulation of B cell mediated immunity (GO:0002712)2.65053345
122regulation of alpha-beta T cell activation (GO:0046634)2.64127256
123lymphocyte homeostasis (GO:0002260)2.60887430
124alpha-beta T cell differentiation involved in immune response (GO:0002293)2.58067489
125alpha-beta T cell activation involved in immune response (GO:0002287)2.58067489
126T cell differentiation involved in immune response (GO:0002292)2.58067489
127positive regulation of T cell mediated cytotoxicity (GO:0001916)2.56600209
128regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.56229122
129positive regulation of T cell differentiation (GO:0045582)2.54263189
130modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.52719737
131positive regulation by organism of defense response of other organism involved in symbiotic interact2.52719737
132modulation by symbiont of host immune response (GO:0052553)2.52719737
133modulation by symbiont of host defense response (GO:0052031)2.52719737

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_20620947_ChIP-Seq_CD4_POS_T_Human6.34486071
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.99800010
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.76296879
4STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.78488618
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.64114804
6RUNX_20019798_ChIP-Seq_JUKART_Human3.47415695
7FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.30052284
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.09072348
9EGR1_19374776_ChIP-ChIP_THP-1_Human3.04862602
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.85023125
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.71279454
12* MYC_22102868_ChIP-Seq_BL_Human2.71007574
13* MYB_26560356_Chip-Seq_TH2_Human2.66475726
14STAT4_19710469_ChIP-ChIP_TH1__Mouse2.63017910
15VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.62762091
16* IRF8_27001747_Chip-Seq_BMDM_Mouse2.48078623
17SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.44002001
18STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.43674452
19SCL_19346495_ChIP-Seq_HPC-7_Human2.40341540
20* MAF_26560356_Chip-Seq_TH1_Human2.31681757
21IRF8_21731497_ChIP-ChIP_J774_Mouse2.28975561
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.27368465
23TCF7_22412390_ChIP-Seq_EML_Mouse2.26809467
24MYB_26560356_Chip-Seq_TH1_Human2.23926771
25CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.23126360
26NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.20085745
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.14000362
28SMAD_19615063_ChIP-ChIP_OVARY_Human2.13717188
29NOTCH1_21737748_ChIP-Seq_TLL_Human2.12657478
30UTX_26944678_Chip-Seq_JUKART_Human2.06006996
31KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.96278827
32SPI1_23127762_ChIP-Seq_K562_Human1.93633624
33VDR_21846776_ChIP-Seq_THP-1_Human1.93330006
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.89481991
35AR_21572438_ChIP-Seq_LNCaP_Human1.85431559
36GATA3_27048872_Chip-Seq_THYMUS_Human1.82715179
37* VDR_24763502_ChIP-Seq_THP-1_Human1.82627030
38KDM2B_26808549_Chip-Seq_DND41_Human1.81889763
39KDM2B_26808549_Chip-Seq_SUP-B15_Human1.79668052
40* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.77046545
41KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.76523468
42E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.74923045
43RUNX1_22412390_ChIP-Seq_EML_Mouse1.69726570
44MYB_21317192_ChIP-Seq_ERMYB_Mouse1.61725943
45* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.55232118
46VDR_24787735_ChIP-Seq_THP-1_Human1.48815189
47MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.46518580
48MAF_26560356_Chip-Seq_TH2_Human1.43671234
49SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.40799001
50SPI1_23547873_ChIP-Seq_NB4_Human1.37501132
51NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.37341039
52PU_27001747_Chip-Seq_BMDM_Mouse1.35421536
53LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.31401813
54RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.28716464
55KDM2B_26808549_Chip-Seq_JURKAT_Human1.28453180
56RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.26333199
57DROSHA_22980978_ChIP-Seq_HELA_Human1.24244745
58* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18927932
59NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.18708596
60Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.18420556
61GATA3_26560356_Chip-Seq_TH2_Human1.17989157
62LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.16578534
63ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.13654975
64PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13277500
65* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09105547
66GATA1_19941827_ChIP-Seq_MEL_Mouse1.08979720
67TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.06462709
68PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.05130740
69* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.03925872
70THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.02992268
71STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00925382
72GATA2_21666600_ChIP-Seq_HMVEC_Human0.99190444
73GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98582490
74CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98118591
75SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.96875938
76IKZF1_21737484_ChIP-ChIP_HCT116_Human0.96486254
77GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.96006274
78GATA1_22025678_ChIP-Seq_K562_Human0.95996568
79CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93062537
80ELK3_25401928_ChIP-Seq_HUVEC_Human0.93042527
81TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.92778088
82PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92045865
83* GATA1_19941826_ChIP-Seq_K562_Human0.91534149
84PU.1_20513432_ChIP-Seq_Bcells_Mouse0.88829515
85BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.87381378
86* GATA2_19941826_ChIP-Seq_K562_Human0.86679512
87SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.86041158
88* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.84788718
89PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84012173
90CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.83422767
91DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.82770835
92NCOR1_26117541_ChIP-Seq_K562_Human0.81583459
93GATA2_22383799_ChIP-Seq_G1ME_Mouse0.81542382
94* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.81342088
95* RUNX1_27514584_Chip-Seq_MCF-7_Human0.80324825
96SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.78592628
97FOXO3_23340844_ChIP-Seq_DLD1_Human0.76339206
98SMRT_27268052_Chip-Seq_Bcells_Human0.75542508
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75430118
100* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73988677
101ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.73783581
102VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.73621245
103GATA3_26560356_Chip-Seq_TH1_Human0.73332061
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.73180445
105* KDM2B_26808549_Chip-Seq_K562_Human0.72928428
106* TBX20_22080862_ChIP-Seq_HEART_Mouse0.72748366
107* TBX20_22328084_ChIP-Seq_HEART_Mouse0.72748366
108LXR_22292898_ChIP-Seq_THP-1_Human0.72199704
109SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.70942670
110GATA1_19941827_ChIP-Seq_MEL86_Mouse0.70875851
111STAT6_21828071_ChIP-Seq_BEAS2B_Human0.69944298
112CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.69774059
113GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.68909875
114FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.68668928
115* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.68066696
116* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65045954
117CIITA_25753668_ChIP-Seq_RAJI_Human0.64757627
118SPI1_20517297_ChIP-Seq_HL60_Human0.64600972
119NFIB_24661679_ChIP-Seq_LUNG_Mouse0.63958521
120TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.62922619

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0003763_abnormal_thymus_physiology3.90374482
2MP0005671_abnormal_response_to3.80309670
3MP0000685_abnormal_immune_system3.45877424
4MP0001835_abnormal_antigen_presentation3.16087458
5* MP0005387_immune_system_phenotype3.12615246
6* MP0001790_abnormal_immune_system3.12615246
7MP0004510_myositis3.08230247
8MP0003300_gastrointestinal_ulcer2.94924394
9* MP0001800_abnormal_humoral_immune2.85434032
10MP0005000_abnormal_immune_tolerance2.73689467
11MP0006082_CNS_inflammation2.65854248
12MP0001873_stomach_inflammation2.62702584
13MP0003866_abnormal_defecation2.58185003
14* MP0002723_abnormal_immune_serum2.55258144
15MP0003436_decreased_susceptibility_to2.46821306
16* MP0002420_abnormal_adaptive_immunity2.41856831
17* MP0002452_abnormal_antigen_presenting2.39469973
18* MP0001819_abnormal_immune_cell2.39341372
19* MP0002405_respiratory_system_inflammati2.33775861
20* MP0002398_abnormal_bone_marrow2.15615880
21MP0002933_joint_inflammation2.12188280
22MP0003045_fibrosis2.11118393
23MP0010155_abnormal_intestine_physiology2.05636926
24MP0003183_abnormal_peptide_metabolism2.04508084
25* MP0000703_abnormal_thymus_morphology2.03182868
26MP0008961_abnormal_basal_metabolism2.02934482
27MP0005025_abnormal_response_to2.01297225
28MP0009785_altered_susceptibility_to1.99845917
29MP0002148_abnormal_hypersensitivity_rea1.99290657
30MP0000716_abnormal_immune_system1.97129166
31MP0002419_abnormal_innate_immunity1.94450148
32MP0003303_peritoneal_inflammation1.92060085
33MP0009333_abnormal_splenocyte_physiolog1.90654149
34MP0002166_altered_tumor_susceptibility1.83291744
35MP0003172_abnormal_lysosome_physiology1.76890363
36* MP0002722_abnormal_immune_system1.74607440
37MP0005310_abnormal_salivary_gland1.69373058
38* MP0000689_abnormal_spleen_morphology1.69145210
39MP0002138_abnormal_hepatobiliary_system1.64790334
40MP0002396_abnormal_hematopoietic_system1.62979920
41MP0005174_abnormal_tail_pigmentation1.59867565
42MP0004947_skin_inflammation1.59198153
43MP0005464_abnormal_platelet_physiology1.57137080
44MP0001853_heart_inflammation1.56549162
45MP0005645_abnormal_hypothalamus_physiol1.54544819
46* MP0001845_abnormal_inflammatory_respons1.52661758
47MP0002006_tumorigenesis1.51366974
48MP0002429_abnormal_blood_cell1.50728336
49MP0002877_abnormal_melanocyte_morpholog1.50098379
50MP0004808_abnormal_hematopoietic_stem1.46351892
51MP0000465_gastrointestinal_hemorrhage1.38848099
52MP0001533_abnormal_skeleton_physiology1.34901170
53MP0002998_abnormal_bone_remodeling1.34480020
54* MP0001851_eye_inflammation1.25718415
55MP0000015_abnormal_ear_pigmentation1.23764971
56MP0003191_abnormal_cellular_cholesterol1.16305877
57MP0005408_hypopigmentation1.10894698
58MP0003724_increased_susceptibility_to1.09905255
59MP0003448_altered_tumor_morphology1.08838384
60MP0009278_abnormal_bone_marrow1.08130200
61MP0000858_altered_metastatic_potential1.06553693
62MP0008057_abnormal_DNA_replication1.05287013
63MP0002693_abnormal_pancreas_physiology1.02451024
64MP0002132_abnormal_respiratory_system1.02400886
65MP0005451_abnormal_body_composition1.01529335
66MP0002254_reproductive_system_inflammat0.99289763
67MP0000569_abnormal_digit_pigmentation0.99084628
68MP0005409_darkened_coat_color0.98285514
69MP0002909_abnormal_adrenal_gland0.97074411
70MP0003656_abnormal_erythrocyte_physiolo0.92944542
71MP0005058_abnormal_lysosome_morphology0.91389581
72MP0002095_abnormal_skin_pigmentation0.89591081
73MP0003795_abnormal_bone_structure0.89472009
74MP0005076_abnormal_cell_differentiation0.88213177
75MP0005166_decreased_susceptibility_to0.86587544
76MP0003828_pulmonary_edema0.86391897
77MP0004883_abnormal_blood_vessel0.83878120
78MP0009764_decreased_sensitivity_to0.83851531
79MP0008469_abnormal_protein_level0.83604986
80MP0009763_increased_sensitivity_to0.83600745
81MP0005670_abnormal_white_adipose0.82151594
82MP0002019_abnormal_tumor_incidence0.80650763
83MP0004084_abnormal_cardiac_muscle0.76650808
84MP0004381_abnormal_hair_follicle0.76268659
85MP0003787_abnormal_imprinting0.71252716
86MP0005075_abnormal_melanosome_morpholog0.70772094
87MP0005397_hematopoietic_system_phenotyp0.69029502
88MP0001545_abnormal_hematopoietic_system0.69029502
89MP0001663_abnormal_digestive_system0.68841398
90MP0000371_diluted_coat_color0.68796252
91MP0000343_altered_response_to0.67043685
92MP0002837_dystrophic_cardiac_calcinosis0.66844392
93MP0001502_abnormal_circadian_rhythm0.66277428
94MP0005390_skeleton_phenotype0.65292769
95MP0005646_abnormal_pituitary_gland0.65117576
96MP0001348_abnormal_lacrimal_gland0.64798672
97MP0008004_abnormal_stomach_pH0.63905951
98MP0003279_aneurysm0.63593109
99MP0000372_irregular_coat_pigmentation0.62327699
100MP0000003_abnormal_adipose_tissue0.62197005
101MP0005164_abnormal_response_to0.61745905
102MP0005257_abnormal_intraocular_pressure0.60937988
103MP0000490_abnormal_crypts_of0.60650669
104MP0003566_abnormal_cell_adhesion0.59642089
105MP0009840_abnormal_foam_cell0.58576576
106MP0008569_lethality_at_weaning0.57019045
107MP0008260_abnormal_autophagy0.57002930
108MP0002009_preneoplasia0.56769465
109MP0009115_abnormal_fat_cell0.55148307
110MP0002928_abnormal_bile_duct0.53415089
111MP0005381_digestive/alimentary_phenotyp0.53321363
112MP0000609_abnormal_liver_physiology0.53126696
113MP0000013_abnormal_adipose_tissue0.52554057
114MP0002136_abnormal_kidney_physiology0.52119497
115MP0009765_abnormal_xenobiotic_induced0.51370740
116MP0000733_abnormal_muscle_development0.50814184
117MP0005171_absent_coat_pigmentation0.50545339
118MP0003091_abnormal_cell_migration0.49860796
119MP0002822_catalepsy0.48598956
120MP0002168_other_aberrant_phenotype0.48450421
121MP0004484_altered_response_of0.47082689
122MP0000249_abnormal_blood_vessel0.46351211
123MP0002277_abnormal_respiratory_mucosa0.45613115
124MP0005375_adipose_tissue_phenotype0.44675938

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)4.92547961
2Abnormality of T cell number (HP:0011839)4.64017168
3Myositis (HP:0100614)4.43364662
4Recurrent fungal infections (HP:0002841)4.15177782
5Chronic mucocutaneous candidiasis (HP:0002728)3.93800114
6Recurrent cutaneous fungal infections (HP:0011370)3.93800114
7Abnormal delayed hypersensitivity skin test (HP:0002963)3.82438810
8Retrobulbar optic neuritis (HP:0100654)3.82097014
9Optic neuritis (HP:0100653)3.82097014
10Abnormality of the fingertips (HP:0001211)3.77409220
11Eczematoid dermatitis (HP:0000976)3.77028273
12IgM deficiency (HP:0002850)3.53919481
13Abnormality of T cells (HP:0002843)3.49351514
14Panhypogammaglobulinemia (HP:0003139)3.49242829
15Nasal polyposis (HP:0100582)3.40071017
16Gastrointestinal infarctions (HP:0005244)3.38678785
17Recurrent viral infections (HP:0004429)3.36727082
18Orchitis (HP:0100796)3.32548178
19Recurrent bronchitis (HP:0002837)3.29494120
20Recurrent abscess formation (HP:0002722)3.09010029
21Pulmonary infiltrates (HP:0002113)3.08550010
22Stomatitis (HP:0010280)3.08386681
23Elevated erythrocyte sedimentation rate (HP:0003565)3.06610146
24Epiphyseal dysplasia (HP:0002656)3.02281939
25Abnormality of macrophages (HP:0004311)3.00172758
26Severe combined immunodeficiency (HP:0004430)3.00119696
27Inflammation of the large intestine (HP:0002037)2.98786511
28Persistence of primary teeth (HP:0006335)2.95936190
29Abnormality of the nasal mucosa (HP:0000433)2.89365646
30Chronic diarrhea (HP:0002028)2.88783504
31Increased IgE level (HP:0003212)2.88457264
32Gastrointestinal inflammation (HP:0004386)2.83249513
33Chronic otitis media (HP:0000389)2.83198934
34Gingival bleeding (HP:0000225)2.82673219
35Increased IgM level (HP:0003496)2.78312881
36Arterial thrombosis (HP:0004420)2.76340798
37Increased density of long bones (HP:0006392)2.76079107
38Abnormality of eosinophils (HP:0001879)2.74768766
39Papilloma (HP:0012740)2.74729124
40Verrucae (HP:0200043)2.74729124
41Papilledema (HP:0001085)2.68552647
42Thyroiditis (HP:0100646)2.68451705
43Cellulitis (HP:0100658)2.56830594
44Keratoconjunctivitis (HP:0001096)2.54944570
45Pulmonary embolism (HP:0002204)2.53939988
46Eosinophilia (HP:0001880)2.53808216
47Recurrent bacterial skin infections (HP:0005406)2.51148977
48Hemoptysis (HP:0002105)2.49172448
49Mediastinal lymphadenopathy (HP:0100721)2.47098870
50Meningitis (HP:0001287)2.46110458
51Colitis (HP:0002583)2.45239753
52IgA deficiency (HP:0002720)2.44457248
53Recurrent skin infections (HP:0001581)2.43443985
54Keratoconjunctivitis sicca (HP:0001097)2.41987115
55Gastrointestinal stroma tumor (HP:0100723)2.41172546
56Combined immunodeficiency (HP:0005387)2.40961075
57Recurrent gram-negative bacterial infections (HP:0005420)2.39114059
58Urticaria (HP:0001025)2.37715989
59Leukocytosis (HP:0001974)2.35098216
60Dysostosis multiplex (HP:0000943)2.31479922
61Vasculitis (HP:0002633)2.31461984
62Autoimmune thrombocytopenia (HP:0001973)2.31043614
63Hypochromic anemia (HP:0001931)2.28953779
64Hypergammaglobulinemia (HP:0010702)2.26912124
65Pustule (HP:0200039)2.24944622
66Abnormality of T cell physiology (HP:0011840)2.24683129
67Lymphoma (HP:0002665)2.24069237
68Gangrene (HP:0100758)2.22596685
69Abnormality of the endocardium (HP:0004306)2.21263746
70Anorexia (HP:0002039)2.20930481
71Abnormality of the pleura (HP:0002103)2.18979551
72Spondylolisthesis (HP:0003302)2.18042785
73Abnormality of the prostate (HP:0008775)2.18023916
74B lymphocytopenia (HP:0010976)2.17876188
75Abnormality of B cell number (HP:0010975)2.17876188
76Acute hepatic failure (HP:0006554)2.16270966
77Hypoplastic ischia (HP:0003175)2.15669347
78Abnormal platelet volume (HP:0011876)2.15498089
79Prolonged bleeding time (HP:0003010)2.14592682
80Petechiae (HP:0000967)2.14533542
81Cheilitis (HP:0100825)2.14372181
82Lymphopenia (HP:0001888)2.13494595
83Severe short stature (HP:0003510)2.12291872
84Spontaneous hematomas (HP:0007420)2.10649868
85Osteomyelitis (HP:0002754)2.10077823
86IgG deficiency (HP:0004315)2.08084095
87Viral hepatitis (HP:0006562)2.06189706
88Skin rash (HP:0000988)2.06108390
89Hypoproteinemia (HP:0003075)2.04723914
90Chronic obstructive pulmonary disease (HP:0006510)2.03519758
91Obstructive lung disease (HP:0006536)2.03519758
92Menorrhagia (HP:0000132)2.00157725
93Abnormality of cells of the lymphoid lineage (HP:0012140)1.97598122
94Granulocytopenia (HP:0001913)1.97007814
95Polyneuropathy (HP:0001271)1.96575779
96Glomerulopathy (HP:0100820)1.96496576
97Abnormal platelet function (HP:0011869)1.95255736
98Impaired platelet aggregation (HP:0003540)1.95255736
99Autoimmune hemolytic anemia (HP:0001890)1.94683767
100Basal cell carcinoma (HP:0002671)1.93101868
101Increased cerebral lipofuscin (HP:0011813)1.92275637
102Joint swelling (HP:0001386)1.92118952
103Aortic aneurysm (HP:0004942)1.91024761
104Chest pain (HP:0100749)1.90498012
105Chronic sinusitis (HP:0011109)1.89092252
106Agammaglobulinemia (HP:0004432)1.88817329
107Arterial tortuosity (HP:0005116)1.88734154
108Sepsis (HP:0100806)1.88723236
109Subaortic stenosis (HP:0001682)1.84742918
110Abnormality of the left ventricular outflow tract (HP:0011103)1.84742918
111Arthralgia (HP:0002829)1.82969854
112Increased neuronal autofluorescent lipopigment (HP:0002074)1.81603178
113Absent frontal sinuses (HP:0002688)1.81301541
114Thrombocytosis (HP:0001894)1.80460862
115Fatigue (HP:0012378)1.80191110
116Metaphyseal cupping (HP:0003021)1.80174256
117Encephalitis (HP:0002383)1.78792536
118Emphysema (HP:0002097)1.77263235
119Abnormality of the ischium (HP:0003174)1.75353556
120Keratitis (HP:0000491)1.74743688
121Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.73827436
122Interstitial pulmonary disease (HP:0006530)1.73030910
123Asymmetric septal hypertrophy (HP:0001670)1.71531367
124Gingivitis (HP:0000230)1.71016591
125Frequent falls (HP:0002359)1.70437118
126Periodontitis (HP:0000704)1.68424114
127Joint stiffness (HP:0001387)1.67217707
128Acute myeloid leukemia (HP:0004808)1.66779716
129Bronchitis (HP:0012387)1.66627286
130Recurrent sinusitis (HP:0011108)1.65987133
131Spinal canal stenosis (HP:0003416)1.64632135
132Epistaxis (HP:0000421)1.63268515
133Mucopolysacchariduria (HP:0008155)1.62973698

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.80589268
2TXK4.57092959
3JAK32.92477661
4ITK2.79560841
5TYK22.48280988
6TAOK32.29947145
7PRPF4B2.26196821
8JAK12.20142420
9FGFR42.09666620
10ZAP702.06560349
11EPHA32.03796649
12IRAK32.01214047
13EEF2K1.92617624
14MAP3K141.82180075
15MAPK151.79572683
16NLK1.74035149
17FGFR31.73673385
18EPHB11.72279219
19TBK11.71674122
20IKBKE1.69841820
21TGFBR21.69827727
22SIK21.62846610
23LCK1.53815689
24SIK31.53635148
25HCK1.52146988
26TEC1.51895594
27ERN11.43881361
28CSK1.43543350
29MAP3K101.36880686
30STK101.35865491
31BTK1.33570178
32SYK1.31771244
33MAP3K131.29710865
34DMPK1.29480074
35MAP3K71.29336863
36KIT1.25876788
37TRIB31.25708881
38MARK31.24737618
39FES1.22856448
40IKBKB1.10932289
41BRD41.10879228
42CAMK1G1.09836377
43RIPK41.06888317
44HIPK21.06292019
45PRKCH1.05601660
46PKN21.04609422
47TRPM71.04573220
48CHUK1.01418927
49CSF1R1.00707465
50CAMK1D0.99221382
51IRAK40.99132277
52MAP2K30.95853572
53JAK20.95517306
54TTN0.94930049
55PRKCQ0.94068633
56GRK60.93196383
57PIK3CG0.92428510
58BLK0.91350570
59CDK120.89551235
60CDK90.85249050
61CDK40.82726498
62PDGFRB0.80460628
63PTK60.80280226
64MAPK110.79466595
65STK240.76230159
66MAP3K30.76088775
67TNK20.74859086
68GRK70.73820894
69TAOK10.73009004
70IRAK10.72672837
71NEK90.72313869
72SMG10.69223644
73RET0.69084913
74LYN0.67307387
75MAPK70.64003011
76RPS6KA40.59767935
77FLT30.59527015
78ADRBK20.56862529
79PIM10.56486496
80PDGFRA0.54653405
81PRKD20.54429901
82SGK30.53879972
83INSRR0.53724877
84ALK0.53291514
85FGR0.52701580
86SGK20.51122275
87EIF2AK30.50551949
88SCYL20.48630098
89MAP3K10.48075583
90PTK2B0.46705990
91PDK10.46077261
92MELK0.45062201
93TSSK60.43103926
94MAP3K110.43070609
95CLK10.42704645
96MAP2K60.42408761
97LRRK20.41567642
98TAOK20.40556117
99MAPK120.40533512
100CDK60.40131573
101CAMKK20.39503966
102MARK20.39471110
103IGF1R0.38967189
104FYN0.38875368
105MAPK30.38405189
106SIK10.38055752
107PDPK10.37303540
108PRKG20.35900203
109PRKAA20.35827958
110MST40.35634619
111MAP3K20.35604409
112KDR0.35543837
113NUAK10.34857137
114CDK30.33673964
115BMPR20.33043336
116MAPKAPK20.32885013
117CDC42BPA0.31789883
118CAMKK10.31739292
119OBSCN0.31411590
120PASK0.31153812
121GSK3A0.31054286
122CAMK40.30951443
123WNK10.30883108
124TESK20.30298198
125RPS6KC10.28706803
126RPS6KL10.28706803
127STK40.28416424

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.33598349
2Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.04950620
3* T cell receptor signaling pathway_Homo sapiens_hsa046602.64861500
4* Osteoclast differentiation_Homo sapiens_hsa043802.21673663
5* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.15359869
6Measles_Homo sapiens_hsa051622.06795022
7* B cell receptor signaling pathway_Homo sapiens_hsa046622.03452525
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.00691435
9Jak-STAT signaling pathway_Homo sapiens_hsa046301.79988246
10Leishmaniasis_Homo sapiens_hsa051401.79833913
11Intestinal immune network for IgA production_Homo sapiens_hsa046721.79113821
12Antigen processing and presentation_Homo sapiens_hsa046121.72562697
13Allograft rejection_Homo sapiens_hsa053301.65513116
14Hematopoietic cell lineage_Homo sapiens_hsa046401.51072615
15Chemokine signaling pathway_Homo sapiens_hsa040621.43609317
16Type I diabetes mellitus_Homo sapiens_hsa049401.42771126
17Acute myeloid leukemia_Homo sapiens_hsa052211.40645113
18Toll-like receptor signaling pathway_Homo sapiens_hsa046201.37336002
19Graft-versus-host disease_Homo sapiens_hsa053321.36347481
20Prolactin signaling pathway_Homo sapiens_hsa049171.32401637
21Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.30864485
22Toxoplasmosis_Homo sapiens_hsa051451.30114426
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.28222597
24Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.26344702
25Viral myocarditis_Homo sapiens_hsa054161.24453644
26Other glycan degradation_Homo sapiens_hsa005111.21406106
27Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.20848850
28Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.19958879
29Chronic myeloid leukemia_Homo sapiens_hsa052201.17797297
30TNF signaling pathway_Homo sapiens_hsa046681.14761552
31Autoimmune thyroid disease_Homo sapiens_hsa053201.11540644
32* Hepatitis B_Homo sapiens_hsa051611.11398717
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.10795382
34Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.08871692
35Pancreatic cancer_Homo sapiens_hsa052121.06648578
36Influenza A_Homo sapiens_hsa051641.06164751
37Type II diabetes mellitus_Homo sapiens_hsa049301.04993961
38RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.04275768
39Platelet activation_Homo sapiens_hsa046111.02151943
40Herpes simplex infection_Homo sapiens_hsa051681.02061447
41AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.96077991
42Neurotrophin signaling pathway_Homo sapiens_hsa047220.94114169
43Leukocyte transendothelial migration_Homo sapiens_hsa046700.93787661
44Tuberculosis_Homo sapiens_hsa051520.93101920
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.89973866
46Glycosaminoglycan degradation_Homo sapiens_hsa005310.89185579
47Phosphatidylinositol signaling system_Homo sapiens_hsa040700.86657250
48Apoptosis_Homo sapiens_hsa042100.86207352
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.85966313
50Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.85065467
51MAPK signaling pathway_Homo sapiens_hsa040100.82737785
52* HTLV-I infection_Homo sapiens_hsa051660.82143880
53Malaria_Homo sapiens_hsa051440.80627474
54Colorectal cancer_Homo sapiens_hsa052100.80414028
55African trypanosomiasis_Homo sapiens_hsa051430.80035889
56Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79047176
57Asthma_Homo sapiens_hsa053100.77956894
58Viral carcinogenesis_Homo sapiens_hsa052030.76924299
59Notch signaling pathway_Homo sapiens_hsa043300.74800102
60Circadian rhythm_Homo sapiens_hsa047100.74004166
61Renal cell carcinoma_Homo sapiens_hsa052110.73218369
62Dilated cardiomyopathy_Homo sapiens_hsa054140.73048880
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.71508229
64Non-small cell lung cancer_Homo sapiens_hsa052230.69755656
65Lysosome_Homo sapiens_hsa041420.69704787
66Renin secretion_Homo sapiens_hsa049240.68444465
67Olfactory transduction_Homo sapiens_hsa047400.67693496
68Insulin resistance_Homo sapiens_hsa049310.66366967
69* VEGF signaling pathway_Homo sapiens_hsa043700.65828649
70Rheumatoid arthritis_Homo sapiens_hsa053230.64980374
71Cocaine addiction_Homo sapiens_hsa050300.64925423
72Insulin secretion_Homo sapiens_hsa049110.64750863
73Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.64348138
74Pertussis_Homo sapiens_hsa051330.63946789
75Aldosterone synthesis and secretion_Homo sapiens_hsa049250.63633284
76Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.61939105
77FoxO signaling pathway_Homo sapiens_hsa040680.61551611
78Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.61297830
79Hepatitis C_Homo sapiens_hsa051600.60867580
80Estrogen signaling pathway_Homo sapiens_hsa049150.60512228
81Salmonella infection_Homo sapiens_hsa051320.60036623
82Shigellosis_Homo sapiens_hsa051310.59715207
83Legionellosis_Homo sapiens_hsa051340.59570293
84Inositol phosphate metabolism_Homo sapiens_hsa005620.59053916
85Prostate cancer_Homo sapiens_hsa052150.58936223
86* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.58924151
87Epstein-Barr virus infection_Homo sapiens_hsa051690.57506017
88Staphylococcus aureus infection_Homo sapiens_hsa051500.57482295
89Regulation of actin cytoskeleton_Homo sapiens_hsa048100.56222614
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.56073220
91Endocytosis_Homo sapiens_hsa041440.55981544
92Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.55578296
93cAMP signaling pathway_Homo sapiens_hsa040240.55508646
94Glioma_Homo sapiens_hsa052140.54241538
95Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53377068
96Dorso-ventral axis formation_Homo sapiens_hsa043200.53314471
97Cholinergic synapse_Homo sapiens_hsa047250.52836502
98Adipocytokine signaling pathway_Homo sapiens_hsa049200.52050687
99Calcium signaling pathway_Homo sapiens_hsa040200.51813837
100* Oxytocin signaling pathway_Homo sapiens_hsa049210.51736450
101GnRH signaling pathway_Homo sapiens_hsa049120.50987107
102Choline metabolism in cancer_Homo sapiens_hsa052310.50443666
103Long-term potentiation_Homo sapiens_hsa047200.50392113
104Morphine addiction_Homo sapiens_hsa050320.49998900
105Endometrial cancer_Homo sapiens_hsa052130.46095499
106Phagosome_Homo sapiens_hsa041450.45228993
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.44277834
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43617033
109mTOR signaling pathway_Homo sapiens_hsa041500.43349109
110ABC transporters_Homo sapiens_hsa020100.37314536
111HIF-1 signaling pathway_Homo sapiens_hsa040660.36245260
112Systemic lupus erythematosus_Homo sapiens_hsa053220.33120722
113Small cell lung cancer_Homo sapiens_hsa052220.32765242
114Vascular smooth muscle contraction_Homo sapiens_hsa042700.32324541
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.32159243
116Thyroid cancer_Homo sapiens_hsa052160.30225344
117ErbB signaling pathway_Homo sapiens_hsa040120.29555242
118Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29457731
119Ras signaling pathway_Homo sapiens_hsa040140.27677947
120alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.26908254
121Linoleic acid metabolism_Homo sapiens_hsa005910.18431697

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