CRTC2

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 transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1daunorubicin metabolic process (GO:0044597)5.78315409
2polyketide metabolic process (GO:0030638)5.78315409
3doxorubicin metabolic process (GO:0044598)5.78315409
4positive regulation of gamma-delta T cell activation (GO:0046645)5.43304261
5antigen processing and presentation of endogenous antigen (GO:0019883)5.25624127
6antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.22924988
7antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.22924988
8positive thymic T cell selection (GO:0045059)4.69561477
9regulation of gamma-delta T cell differentiation (GO:0045586)4.36372401
10regulation of gamma-delta T cell activation (GO:0046643)4.27819291
11response to peptidoglycan (GO:0032494)4.22007492
12regulation of interleukin-12 biosynthetic process (GO:0045075)4.15687162
13detection of bacterium (GO:0016045)4.01163997
14detection of other organism (GO:0098543)3.97059933
15detection of molecule of bacterial origin (GO:0032490)3.95290464
16aminoglycoside antibiotic metabolic process (GO:0030647)3.80359649
17thymic T cell selection (GO:0045061)3.64526494
18neutrophil activation involved in immune response (GO:0002283)3.63272472
19regulation of B cell receptor signaling pathway (GO:0050855)3.57840253
20leukocyte aggregation (GO:0070486)3.49399112
21positive T cell selection (GO:0043368)3.43682325
22NIK/NF-kappaB signaling (GO:0038061)3.43229608
23negative thymic T cell selection (GO:0045060)3.40425739
24positive regulation of B cell differentiation (GO:0045579)3.38760784
25cellular response to zinc ion (GO:0071294)3.38694128
26antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.37052341
27positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.36944530
28JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.29664620
29negative T cell selection (GO:0043383)3.28694443
30regulation of B cell differentiation (GO:0045577)3.28405580
31negative regulation of lymphocyte mediated immunity (GO:0002707)3.28269077
32T cell selection (GO:0045058)3.26947230
33response to interleukin-15 (GO:0070672)3.26860134
34T cell migration (GO:0072678)3.24904528
35response to type I interferon (GO:0034340)3.24117458
36negative regulation of interleukin-12 production (GO:0032695)3.23814149
37negative regulation of T cell mediated immunity (GO:0002710)3.17381006
38type I interferon signaling pathway (GO:0060337)3.15018822
39cellular response to type I interferon (GO:0071357)3.15018822
40positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.12610366
41B cell receptor signaling pathway (GO:0050853)3.12526761
42modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.11720048
43modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.11720048
44positive regulation by organism of defense response of other organism involved in symbiotic interact3.11720048
45modulation by symbiont of host immune response (GO:0052553)3.11720048
46positive regulation by symbiont of host defense response (GO:0052509)3.11720048
47modulation by symbiont of host defense response (GO:0052031)3.11720048
48positive regulation of histone deacetylation (GO:0031065)3.11703222
49response to muramyl dipeptide (GO:0032495)3.09761925
50cellular extravasation (GO:0045123)3.09658810
51negative regulation of erythrocyte differentiation (GO:0045647)3.09373378
52negative regulation of leukocyte mediated immunity (GO:0002704)3.09051427
53interferon-gamma production (GO:0032609)3.08901523
54regulation of dendritic cell antigen processing and presentation (GO:0002604)3.08868532
55mannose metabolic process (GO:0006013)3.05904116
56antigen processing and presentation via MHC class Ib (GO:0002475)3.05699209
57response to host immune response (GO:0052572)3.05378455
58response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.05378455
59natural killer cell differentiation (GO:0001779)3.04409051
60regulation of mast cell degranulation (GO:0043304)3.04037120
61regulation of interferon-beta biosynthetic process (GO:0045357)2.98574742
62response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.98134890
63response to host (GO:0075136)2.98134890
64response to host defenses (GO:0052200)2.98134890
65regulation of T-helper 2 cell differentiation (GO:0045628)2.95968611
66positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.92773276
67negative regulation of cytokine production involved in immune response (GO:0002719)2.90836756
68tolerance induction (GO:0002507)2.90598136
69regulation of type I interferon-mediated signaling pathway (GO:0060338)2.90397505
70negative regulation of innate immune response (GO:0045824)2.90159729
71mature B cell differentiation (GO:0002335)2.85017120
72positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.84299720
73positive regulation of natural killer cell differentiation (GO:0032825)2.83529775
74regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.83124062
75regulation of tolerance induction (GO:0002643)2.82247498
76regulation of leukocyte degranulation (GO:0043300)2.81829523
77negative regulation of granulocyte differentiation (GO:0030853)2.79702139
78positive regulation of interferon-alpha production (GO:0032727)2.78876336
79lymph node development (GO:0048535)2.75705750
80regulation of myeloid leukocyte mediated immunity (GO:0002886)2.73720337
81regulation of mast cell activation involved in immune response (GO:0033006)2.73591801
82regulation of natural killer cell mediated immunity (GO:0002715)2.72934539
83regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.72934539
84detection of external biotic stimulus (GO:0098581)2.72848156
85myeloid cell activation involved in immune response (GO:0002275)2.72371984
86modulation by virus of host process (GO:0019054)2.71668259
87positive regulation of cytokine biosynthetic process (GO:0042108)2.70349944
88positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.70089038
89negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.69925004
90negative regulation of cell killing (GO:0031342)2.69925004
91negative regulation of interleukin-6 production (GO:0032715)2.69747200
92cellular response to interleukin-15 (GO:0071350)2.68630103
93immunoglobulin mediated immune response (GO:0016064)2.67777640
94positive regulation of type 2 immune response (GO:0002830)2.67479031
95regulation of interferon-alpha production (GO:0032647)2.67404954
96response to laminar fluid shear stress (GO:0034616)2.65819507
97negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.65736177
98lymphocyte homeostasis (GO:0002260)2.65264644
99B cell homeostasis (GO:0001782)2.64409870
100respiratory burst (GO:0045730)2.64398858
101regulation of antigen processing and presentation (GO:0002577)2.63553876
102B cell mediated immunity (GO:0019724)2.63443667
103T cell homeostasis (GO:0043029)2.62069266
104CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.62031094
105positive regulation of humoral immune response (GO:0002922)2.60678673
1063-UTR-mediated mRNA stabilization (GO:0070935)2.60323225
107negative regulation of phagocytosis (GO:0050765)2.59259320
108germinal center formation (GO:0002467)2.58911911
109regulation of T cell mediated cytotoxicity (GO:0001914)2.57822317
110detection of biotic stimulus (GO:0009595)2.57219170
111interferon-gamma-mediated signaling pathway (GO:0060333)2.57074056
112modulation by symbiont of host cellular process (GO:0044068)2.55924218
113granulocyte activation (GO:0036230)2.55459004
114regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.54963762
115neutrophil activation (GO:0042119)2.53769653
116positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.53220558
117myeloid dendritic cell differentiation (GO:0043011)2.51621202
118positive regulation of interleukin-2 production (GO:0032743)2.50652218
119post-embryonic morphogenesis (GO:0009886)2.49375806
120natural killer cell activation (GO:0030101)2.48348416
121leukocyte cell-cell adhesion (GO:0007159)2.46788207
122positive regulation of antigen processing and presentation (GO:0002579)2.46657441
123macrophage activation involved in immune response (GO:0002281)2.46644114
124antigen receptor-mediated signaling pathway (GO:0050851)2.46272834
125growth hormone receptor signaling pathway (GO:0060396)2.46058051
126I-kappaB phosphorylation (GO:0007252)2.44333867
127regulation of T cell tolerance induction (GO:0002664)2.43902102
128regulation of alpha-beta T cell proliferation (GO:0046640)2.42810086
129negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.41955138
130regulation of interleukin-12 production (GO:0032655)2.41840530
131defense response to protozoan (GO:0042832)2.40948568
132response to protozoan (GO:0001562)2.40043816
133myeloid dendritic cell activation (GO:0001773)2.39306174
134positive regulation of cellular amide metabolic process (GO:0034250)2.37996017
135regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.37894739
136negative regulation of toll-like receptor signaling pathway (GO:0034122)2.37760297
137leukocyte homeostasis (GO:0001776)2.37610035
138lipopolysaccharide-mediated signaling pathway (GO:0031663)2.36399613

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.53504495
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.22828539
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.17428050
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.07680164
5MYC_22102868_ChIP-Seq_BL_Human3.32641639
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.19998868
7IRF8_21731497_ChIP-ChIP_J774_Mouse2.89976643
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.84927569
9VDR_21846776_ChIP-Seq_THP-1_Human2.84890932
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.84567559
11SCL_19346495_ChIP-Seq_HPC-7_Human2.83986465
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.80870592
13SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.75597946
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.65992444
15IRF8_27001747_Chip-Seq_BMDM_Mouse2.65182292
16RUNX_20019798_ChIP-Seq_JUKART_Human2.50829568
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.47567729
18STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.46454255
19TCF7_22412390_ChIP-Seq_EML_Mouse2.43480264
20* MAF_26560356_Chip-Seq_TH1_Human2.32189783
21RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.31797641
22STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.30727466
23FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.28663416
24* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.28428120
25RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.12744295
26* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.11438392
27E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.10635626
28VDR_24763502_ChIP-Seq_THP-1_Human2.09509889
29MYB_26560356_Chip-Seq_TH2_Human2.02227397
30MYB_26560356_Chip-Seq_TH1_Human2.01824110
31SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.01133158
32UTX_26944678_Chip-Seq_JUKART_Human1.96907461
33MYB_21317192_ChIP-Seq_ERMYB_Mouse1.96406732
34VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.94240040
35STAT4_19710469_ChIP-ChIP_TH1__Mouse1.91959487
36* KDM2B_26808549_Chip-Seq_DND41_Human1.90248247
37* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.89068811
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.88884746
39NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.86741459
40* ELK3_25401928_ChIP-Seq_HUVEC_Human1.86289291
41* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.82431535
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.76719296
43STAT6_21828071_ChIP-Seq_BEAS2B_Human1.76076042
44BRD4_27068464_Chip-Seq_AML-cells_Mouse1.75770694
45* RXR_22158963_ChIP-Seq_LIVER_Mouse1.74882444
46LXR_22292898_ChIP-Seq_THP-1_Human1.72558182
47RUNX1_22412390_ChIP-Seq_EML_Mouse1.67244030
48SPI1_23127762_ChIP-Seq_K562_Human1.61920507
49Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.53132770
50MAF_26560356_Chip-Seq_TH2_Human1.48740927
51SPI1_23547873_ChIP-Seq_NB4_Human1.47077342
52LXR_22158963_ChIP-Seq_LIVER_Mouse1.43526997
53NOTCH1_21737748_ChIP-Seq_TLL_Human1.42147707
54TP63_17297297_ChIP-ChIP_HaCaT_Human1.40711783
55GATA1_19941827_ChIP-Seq_MEL_Mouse1.40003953
56* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.32534940
57* SA1_27219007_Chip-Seq_ERYTHROID_Human1.32068680
58P68_20966046_ChIP-Seq_HELA_Human1.29980671
59MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.29556687
60LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.25770387
61LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.25584067
62* BCOR_27268052_Chip-Seq_Bcells_Human1.24067503
63GATA2_21666600_ChIP-Seq_HMVEC_Human1.23679482
64VDR_24787735_ChIP-Seq_THP-1_Human1.23363600
65ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.21801305
66PU.1_20513432_ChIP-Seq_Bcells_Mouse1.21447119
67ELF1_20517297_ChIP-Seq_JURKAT_Human1.21267029
68GATA1_19941826_ChIP-Seq_K562_Human1.20818208
69PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20692646
70BCL6_27268052_Chip-Seq_Bcells_Human1.20616161
71CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19968640
72GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.18946115
73* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17931409
74PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17599712
75IKZF1_21737484_ChIP-ChIP_HCT116_Human1.17340980
76* KDM2B_26808549_Chip-Seq_JURKAT_Human1.17034822
77NCOR1_26117541_ChIP-Seq_K562_Human1.16080707
78NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.14940932
79GATA3_27048872_Chip-Seq_THYMUS_Human1.14427645
80PU_27001747_Chip-Seq_BMDM_Mouse1.13372355
81* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.12249452
82CIITA_25753668_ChIP-Seq_RAJI_Human1.11029174
83KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.10672923
84SMC4_20622854_ChIP-Seq_HELA_Human1.09818695
85TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.09218903
86TET1_21451524_ChIP-Seq_MESCs_Mouse1.08619288
87FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.07704313
88RACK7_27058665_Chip-Seq_MCF-7_Human1.07430774
89* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05051359
90GATA2_22383799_ChIP-Seq_G1ME_Mouse1.03944741
91* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.02896822
92GATA1_22025678_ChIP-Seq_K562_Human1.02722905
93TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02636394
94CREB1_26743006_Chip-Seq_LNCaP_Human1.02588719
95GATA2_19941826_ChIP-Seq_K562_Human1.01213043
96* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.00893589
97GATA1_22383799_ChIP-Seq_G1ME_Mouse1.00832446
98DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00470767
99CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00044801
100TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.99982936
101ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99520990
102NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.99447340
103* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.98313919
104SRY_22984422_ChIP-ChIP_TESTIS_Rat0.97461978
105RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.97274788
106PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.97152090
107KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97053181
108* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.96020646
109CTCF_27219007_Chip-Seq_ERYTHROID_Human0.94176242
110* KDM2B_26808549_Chip-Seq_K562_Human0.91593767
111TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91470831
112GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91448657
113STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.91107125
114CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89758769
115RARG_19884340_ChIP-ChIP_MEFs_Mouse0.89523530
116SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87800314
117ESR2_21235772_ChIP-Seq_MCF-7_Human0.86794690
118CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.85774470
119* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.84440866
120EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.82155747
121SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.81735069
122NFIB_24661679_ChIP-Seq_LUNG_Mouse0.81684782
123ZFP281_27345836_Chip-Seq_ESCs_Mouse0.81309152
124GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79410770

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.60286368
2MP0001790_abnormal_immune_system3.37884483
3MP0005387_immune_system_phenotype3.37884483
4MP0000685_abnormal_immune_system3.37856870
5MP0001800_abnormal_humoral_immune3.09087378
6MP0005671_abnormal_response_to2.87848166
7MP0003303_peritoneal_inflammation2.84800438
8MP0003436_decreased_susceptibility_to2.83791404
9MP0009278_abnormal_bone_marrow2.67821634
10MP0005000_abnormal_immune_tolerance2.57957118
11MP0002452_abnormal_antigen_presenting2.55642238
12MP0002723_abnormal_immune_serum2.44578997
13MP0005025_abnormal_response_to2.30546778
14MP0003763_abnormal_thymus_physiology2.28099305
15MP0009785_altered_susceptibility_to2.26785980
16MP0003300_gastrointestinal_ulcer2.25304659
17MP0004510_myositis2.24276158
18MP0002420_abnormal_adaptive_immunity2.22494134
19MP0001819_abnormal_immune_cell2.21309150
20MP0002419_abnormal_innate_immunity2.16291640
21MP0005451_abnormal_body_composition2.14351892
22MP0002148_abnormal_hypersensitivity_rea2.07768576
23MP0002396_abnormal_hematopoietic_system2.06312225
24MP0002398_abnormal_bone_marrow2.00779866
25MP0005464_abnormal_platelet_physiology1.99961533
26MP0004947_skin_inflammation1.99654530
27MP0002405_respiratory_system_inflammati1.97676558
28MP0003724_increased_susceptibility_to1.94359543
29MP0006082_CNS_inflammation1.90958466
30MP0008260_abnormal_autophagy1.89978908
31MP0000716_abnormal_immune_system1.88262763
32MP0001853_heart_inflammation1.86144062
33MP0001545_abnormal_hematopoietic_system1.73905716
34MP0005397_hematopoietic_system_phenotyp1.73905716
35MP0010155_abnormal_intestine_physiology1.68408130
36MP0000689_abnormal_spleen_morphology1.66740853
37MP0001845_abnormal_inflammatory_respons1.66520267
38MP0002722_abnormal_immune_system1.60675250
39MP0001873_stomach_inflammation1.57773275
40MP0002429_abnormal_blood_cell1.55697105
41MP0002254_reproductive_system_inflammat1.55693448
42MP0008961_abnormal_basal_metabolism1.55065937
43MP0003566_abnormal_cell_adhesion1.50845997
44MP0004381_abnormal_hair_follicle1.49785047
45MP0004808_abnormal_hematopoietic_stem1.48856544
46MP0003172_abnormal_lysosome_physiology1.48017066
47MP0009333_abnormal_splenocyte_physiolog1.47080123
48MP0002166_altered_tumor_susceptibility1.45024089
49MP0003866_abnormal_defecation1.42087934
50MP0001533_abnormal_skeleton_physiology1.41876327
51MP0002933_joint_inflammation1.38675332
52MP0005377_hearing/vestibular/ear_phenot1.38309510
53MP0003878_abnormal_ear_physiology1.38309510
54MP0000703_abnormal_thymus_morphology1.37159682
55MP0002138_abnormal_hepatobiliary_system1.36025691
56MP0003705_abnormal_hypodermis_morpholog1.34041440
57MP0005310_abnormal_salivary_gland1.33873179
58MP0003191_abnormal_cellular_cholesterol1.33204621
59MP0009764_decreased_sensitivity_to1.31248092
60MP0008469_abnormal_protein_level1.30093849
61MP0009840_abnormal_foam_cell1.29764113
62MP0002998_abnormal_bone_remodeling1.24500700
63MP0005365_abnormal_bile_salt1.23373487
64MP0003045_fibrosis1.20230331
65MP0003183_abnormal_peptide_metabolism1.17237730
66MP0008004_abnormal_stomach_pH1.17088974
67MP0005076_abnormal_cell_differentiation1.13497395
68MP0002006_tumorigenesis1.09791696
69MP0003828_pulmonary_edema1.07012005
70MP0001348_abnormal_lacrimal_gland1.04699038
71* MP0000609_abnormal_liver_physiology1.03010254
72MP0000858_altered_metastatic_potential1.02911989
73MP0001851_eye_inflammation0.96958091
74MP0000465_gastrointestinal_hemorrhage0.93001527
75MP0005083_abnormal_biliary_tract0.91231554
76MP0003252_abnormal_bile_duct0.90927367
77MP0005360_urolithiasis0.90341266
78MP0003091_abnormal_cell_migration0.89241594
79MP0003453_abnormal_keratinocyte_physiol0.89172688
80MP0001663_abnormal_digestive_system0.87030418
81MP0002928_abnormal_bile_duct0.86914385
82MP0002139_abnormal_hepatobiliary_system0.85916826
83MP0005174_abnormal_tail_pigmentation0.85740790
84MP0002136_abnormal_kidney_physiology0.85563349
85MP0000490_abnormal_crypts_of0.84951127
86MP0005166_decreased_susceptibility_to0.84846042
87MP0001849_ear_inflammation0.83999573
88MP0002132_abnormal_respiratory_system0.82162180
89MP0003448_altered_tumor_morphology0.81279822
90MP0005058_abnormal_lysosome_morphology0.81151152
91MP0009763_increased_sensitivity_to0.80785912
92MP0000604_amyloidosis0.80440998
93MP0003656_abnormal_erythrocyte_physiolo0.79651970
94MP0005670_abnormal_white_adipose0.77411970
95MP0004185_abnormal_adipocyte_glucose0.77164568
96MP0004858_abnormal_nervous_system0.75673692
97MP0002877_abnormal_melanocyte_morpholog0.75216771
98MP0000249_abnormal_blood_vessel0.75205913
99MP0005666_abnormal_adipose_tissue0.74884894
100MP0008874_decreased_physiological_sensi0.74693504
101MP0003075_altered_response_to0.73573024
102MP0000767_abnormal_smooth_muscle0.73534454
103MP0002277_abnormal_respiratory_mucosa0.73499580
104MP0000678_abnormal_parathyroid_gland0.73385806
105MP0005390_skeleton_phenotype0.72648981
106MP0003795_abnormal_bone_structure0.72463660
107MP0004883_abnormal_blood_vessel0.71991119
108MP0003279_aneurysm0.71932387
109MP0005023_abnormal_wound_healing0.71371030
110MP0005085_abnormal_gallbladder_physiolo0.70977941
111MP0010329_abnormal_lipoprotein_level0.70288174
112MP0000569_abnormal_digit_pigmentation0.68893833
113MP0001879_abnormal_lymphatic_vessel0.67814082
114MP0000343_altered_response_to0.66792121
115MP0005164_abnormal_response_to0.64303130
116MP0004019_abnormal_vitamin_homeostasis0.63992787
117MP0009115_abnormal_fat_cell0.63904543
118MP0005375_adipose_tissue_phenotype0.62896282
119MP0003690_abnormal_glial_cell0.60849690
120MP0009931_abnormal_skin_appearance0.58418545

Predicted human phenotypes

RankGene SetZ-score
1Chronic otitis media (HP:0000389)4.87272165
2Eczematoid dermatitis (HP:0000976)4.09722140
3Abnormal delayed hypersensitivity skin test (HP:0002963)3.91873738
4Recurrent fungal infections (HP:0002841)3.88705399
5Elevated erythrocyte sedimentation rate (HP:0003565)3.78549233
6Agammaglobulinemia (HP:0004432)3.68069195
7Panhypogammaglobulinemia (HP:0003139)3.63417957
8Recurrent viral infections (HP:0004429)3.58283977
9Colitis (HP:0002583)3.42956914
10Recurrent abscess formation (HP:0002722)3.42734183
11Recurrent bacterial skin infections (HP:0005406)3.40359476
12Recurrent cutaneous fungal infections (HP:0011370)3.35430879
13Chronic mucocutaneous candidiasis (HP:0002728)3.35430879
14Myositis (HP:0100614)3.33790186
15Cheilitis (HP:0100825)3.32973943
16Inflammation of the large intestine (HP:0002037)3.31016346
17Gastrointestinal inflammation (HP:0004386)3.30313688
18Mediastinal lymphadenopathy (HP:0100721)3.20945845
19Gastrointestinal stroma tumor (HP:0100723)3.17055697
20Vasculitis (HP:0002633)3.15917564
21Cellulitis (HP:0100658)3.10757372
22Autoimmune thrombocytopenia (HP:0001973)3.08726280
23Recurrent gram-negative bacterial infections (HP:0005420)3.06298280
24Recurrent skin infections (HP:0001581)3.00327206
25Abnormality of the fingertips (HP:0001211)2.92904929
26Meningitis (HP:0001287)2.92672413
27Recurrent bronchitis (HP:0002837)2.92147843
28Alopecia of scalp (HP:0002293)2.90515180
29IgM deficiency (HP:0002850)2.86872266
30Lymphopenia (HP:0001888)2.79544141
31Orchitis (HP:0100796)2.76961205
32Bilateral sensorineural hearing impairment (HP:0008619)2.74531342
33Pustule (HP:0200039)2.74387087
34Emphysema (HP:0002097)2.70927919
35Nasal polyposis (HP:0100582)2.70212244
36Unilateral renal agenesis (HP:0000122)2.69922566
37Chronic sinusitis (HP:0011109)2.69895943
38Abnormality of cells of the lymphoid lineage (HP:0012140)2.69210775
39Prolonged bleeding time (HP:0003010)2.68262090
40Abnormality of the nasal mucosa (HP:0000433)2.66869476
41Gingival bleeding (HP:0000225)2.65217799
42Mitral stenosis (HP:0001718)2.62863579
43Myocardial infarction (HP:0001658)2.61536616
44Keratoconjunctivitis sicca (HP:0001097)2.55824225
45Obstructive sleep apnea (HP:0002870)2.53833632
46Spontaneous hematomas (HP:0007420)2.50957931
47Abnormality of glycolipid metabolism (HP:0010969)2.46615531
48Abnormality of liposaccharide metabolism (HP:0010968)2.46615531
49Abnormality of glycosphingolipid metabolism (HP:0004343)2.46615531
50Arterial thrombosis (HP:0004420)2.46399270
51Dysostosis multiplex (HP:0000943)2.46393190
52Periodontitis (HP:0000704)2.45952130
53Abnormal platelet function (HP:0011869)2.43880214
54Impaired platelet aggregation (HP:0003540)2.43880214
55Interstitial pulmonary disease (HP:0006530)2.42597502
56Chronic diarrhea (HP:0002028)2.40893283
57Epistaxis (HP:0000421)2.40330652
58Abnormality of T cell physiology (HP:0011840)2.39216526
59Recurrent sinusitis (HP:0011108)2.36641532
60Abnormality of T cells (HP:0002843)2.36254318
61Loss of speech (HP:0002371)2.36228980
62Retrobulbar optic neuritis (HP:0100654)2.36039582
63Optic neuritis (HP:0100653)2.36039582
64Stomatitis (HP:0010280)2.35451015
65Abnormality of macrophages (HP:0004311)2.34856125
66Urticaria (HP:0001025)2.34460220
67Pulmonary infiltrates (HP:0002113)2.33682375
68Gingivitis (HP:0000230)2.33467251
69Abnormality of T cell number (HP:0011839)2.29929910
70T lymphocytopenia (HP:0005403)2.26743157
71Purpura (HP:0000979)2.26109723
72Increased IgM level (HP:0003496)2.25746986
73Increased cerebral lipofuscin (HP:0011813)2.25175710
74Keratoconjunctivitis (HP:0001096)2.24704969
75Hematochezia (HP:0002573)2.23061330
76Hypertensive crisis (HP:0100735)2.22334939
77Segmental peripheral demyelination/remyelination (HP:0003481)2.22124733
78Slow saccadic eye movements (HP:0000514)2.16525366
79Hypochromic anemia (HP:0001931)2.15689972
80Restrictive lung disease (HP:0002091)2.13398442
81Increased IgE level (HP:0003212)2.13373980
82Gastrointestinal infarctions (HP:0005244)2.11961773
83Systemic lupus erythematosus (HP:0002725)2.11205756
84Ulnar bowing (HP:0003031)2.10305858
85Granulocytopenia (HP:0001913)2.10216472
86Increased serum ferritin (HP:0003281)2.10150526
87Joint swelling (HP:0001386)2.09326458
88Hypergammaglobulinemia (HP:0010702)2.09127580
89Hemoptysis (HP:0002105)2.07742595
90Thrombocytosis (HP:0001894)2.05854603
91Leukocytosis (HP:0001974)2.04061549
92Menorrhagia (HP:0000132)2.02714043
93Tetraparesis (HP:0002273)2.02438973
94Abnormality of polysaccharide metabolism (HP:0011012)2.01532705
95Abnormality of glycosaminoglycan metabolism (HP:0004371)2.01532705
96Abnormality of mucopolysaccharide metabolism (HP:0011020)2.01532705
97Sepsis (HP:0100806)1.99592643
98IgA deficiency (HP:0002720)1.99493463
99Episodic fever (HP:0001954)1.97518973
100Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.97248402
101Hemorrhage of the eye (HP:0011885)1.96654708
102Eosinophilia (HP:0001880)1.95031976
103Abnormality of proline metabolism (HP:0010907)1.95001669
104Hydroxyprolinuria (HP:0003080)1.95001669
105Chest pain (HP:0100749)1.94949426
106Obstructive lung disease (HP:0006536)1.94850107
107Chronic obstructive pulmonary disease (HP:0006510)1.94850107
108Broad face (HP:0000283)1.93971572
109Polygenic inheritance (HP:0010982)1.93647253
110Joint hemorrhage (HP:0005261)1.90996400
111Fatigue (HP:0012378)1.90732540
112Pulmonary embolism (HP:0002204)1.90318394
113Recurrent lower respiratory tract infections (HP:0002783)1.89868897
114Anorexia (HP:0002039)1.89837545
115Mucopolysacchariduria (HP:0008155)1.89836574
116Urinary glycosaminoglycan excretion (HP:0003541)1.89836574
117Increased neuronal autofluorescent lipopigment (HP:0002074)1.89710370
118Papilledema (HP:0001085)1.88417230
119Abnormality of the peritoneum (HP:0002585)1.88127740
120Osteomyelitis (HP:0002754)1.87274554
121Abnormality of the pleura (HP:0002103)1.87063122
122Rectal prolapse (HP:0002035)1.85275959
123Papilloma (HP:0012740)1.85245017
124Verrucae (HP:0200043)1.85245017
125Premature loss of primary teeth (HP:0006323)1.84842684
126Amyloidosis (HP:0011034)1.84339772
127Skin ulcer (HP:0200042)1.84006668
128Vertebral arch anomaly (HP:0008438)1.83796838
129Easy fatigability (HP:0003388)1.83739593
130Arthralgia (HP:0002829)1.82833416
131Encephalitis (HP:0002383)1.81625743
132Recurrent pneumonia (HP:0006532)1.77287573
133Polycythemia (HP:0001901)1.76192627
134Parakeratosis (HP:0001036)1.75832766
135Cerebral aneurysm (HP:0004944)1.75540407
136Keratitis (HP:0000491)1.73573273
137IgG deficiency (HP:0004315)1.71950859
138Petechiae (HP:0000967)1.71889115

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.27656590
2PRPF4B3.76904273
3ERN13.53901128
4MAP3K142.69640226
5JAK32.58631405
6TYK22.36283088
7CDK122.35613974
8TBK12.32600873
9TRIB32.27741407
10TXK2.16709045
11MAP3K102.04736083
12TGFBR22.03745002
13EPHB12.03230426
14FGFR42.01224013
15IRAK32.00370610
16BLK1.88531048
17SMG11.87626368
18IKBKE1.87478661
19ZAP701.86970475
20JAK11.84273217
21STK101.82314259
22KIT1.71680433
23MAP3K131.66779460
24BTK1.64590845
25EEF2K1.64455572
26IKBKB1.62541863
27TAOK21.61064838
28CSF1R1.60864416
29GRK61.55605270
30RIPK41.53185622
31IRAK41.52087051
32RPS6KA41.46722433
33CHUK1.46684980
34ICK1.40551758
35ITK1.36118359
36CSK1.34826977
37SYK1.34345503
38KDR1.34167619
39PTK61.29330593
40MAP3K11.27493187
41FGFR31.26771100
42CAMK1D1.26171677
43HCK1.24326039
44CDC42BPA1.17413326
45CAMK1G1.16456198
46TAOK31.15473151
47MAP2K31.12031817
48TESK21.10667380
49LCK1.08690123
50TEC1.07680499
51HIPK21.06500485
52LRRK21.02478905
53KSR21.02311518
54NLK1.00464498
55PAK40.96157054
56EPHA30.95270356
57IRAK20.95192291
58PIM10.94747969
59FGR0.94638129
60PKN20.94293615
61MAP3K70.93868740
62JAK20.89499849
63FES0.89241814
64LYN0.87443787
65* MARK20.86661100
66NME20.86451201
67PDPK10.83725963
68RIPK10.81909988
69BRD40.80175032
70PDK10.80079872
71FLT30.76193268
72BMX0.74653128
73CDK60.74124658
74CAMKK10.71191298
75CAMK40.70452571
76CDK40.68964079
77ADRBK20.68655944
78TTN0.67960056
79SGK30.66090521
80CLK10.65008435
81MAPK110.64099928
82TAOK10.62330966
83TYRO30.60473086
84MATK0.60035363
85ALK0.59558192
86MAP2K20.59234683
87RPS6KA20.58200070
88PRKD20.58134331
89PRKAA20.56925155
90TNK20.55673844
91PIM20.53191508
92PRKCH0.52911185
93MAP3K110.52183694
94BMPR20.52166463
95IRAK10.51913348
96MTOR0.51795817
97DYRK1B0.50355455
98DMPK0.50158770
99TIE10.50059953
100MAPK120.49471901
101MAP3K30.48752493
102MAPKAPK20.48392925
103MAP3K60.48143710
104RPS6KA60.47784257
105MAPK40.47043351
106* SIK10.46711321
107ARAF0.45938262
108PRKCQ0.44253995
109ABL10.43989268
110PDGFRB0.43817554
111RET0.43420184
112PRKG20.43277452
113MAPK70.42091948
114MAP3K80.40903256
115MAP2K60.39669838
116STK380.39658412
117RPS6KC10.39489207
118RPS6KL10.39489207
119TGFBR10.39233537
120FYN0.38204275
121MAPK30.38099263
122YES10.37562875
123CDK90.36552992
124MAPK150.36356528
125EGFR0.35906394
126INSR0.35598707
127INSRR0.33575013

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.58875715
2NF-kappa B signaling pathway_Homo sapiens_hsa040642.77525839
3B cell receptor signaling pathway_Homo sapiens_hsa046622.60598019
4Leishmaniasis_Homo sapiens_hsa051402.40045453
5Osteoclast differentiation_Homo sapiens_hsa043802.34767418
6Intestinal immune network for IgA production_Homo sapiens_hsa046722.16635809
7Toll-like receptor signaling pathway_Homo sapiens_hsa046202.15885735
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.13267082
9Measles_Homo sapiens_hsa051622.11639202
10Staphylococcus aureus infection_Homo sapiens_hsa051502.02476474
11Hematopoietic cell lineage_Homo sapiens_hsa046401.95166927
12T cell receptor signaling pathway_Homo sapiens_hsa046601.81613426
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.72796646
14Acute myeloid leukemia_Homo sapiens_hsa052211.72024500
15Jak-STAT signaling pathway_Homo sapiens_hsa046301.66067417
16TNF signaling pathway_Homo sapiens_hsa046681.62197821
17Lysine degradation_Homo sapiens_hsa003101.61314124
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.58490018
19Toxoplasmosis_Homo sapiens_hsa051451.54436025
20Antigen processing and presentation_Homo sapiens_hsa046121.51513936
21Type I diabetes mellitus_Homo sapiens_hsa049401.51242779
22Influenza A_Homo sapiens_hsa051641.44363832
23Herpes simplex infection_Homo sapiens_hsa051681.42152755
24NOD-like receptor signaling pathway_Homo sapiens_hsa046211.41743655
25Chronic myeloid leukemia_Homo sapiens_hsa052201.40407352
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.40109517
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.37218665
28Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.33363886
29Allograft rejection_Homo sapiens_hsa053301.32071367
30Tuberculosis_Homo sapiens_hsa051521.31288314
31Chemokine signaling pathway_Homo sapiens_hsa040621.30509072
32Notch signaling pathway_Homo sapiens_hsa043301.28535926
33Malaria_Homo sapiens_hsa051441.26668500
34Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.24000667
35Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.21509179
36Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.19455876
37Hepatitis B_Homo sapiens_hsa051611.19400793
38Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.18842807
39Apoptosis_Homo sapiens_hsa042101.17674346
40AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.17317426
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.15504208
42Complement and coagulation cascades_Homo sapiens_hsa046101.14924852
43Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.14867495
44Pertussis_Homo sapiens_hsa051331.11991309
45African trypanosomiasis_Homo sapiens_hsa051431.10207723
46Legionellosis_Homo sapiens_hsa051341.05351506
47Shigellosis_Homo sapiens_hsa051311.04609979
48Viral myocarditis_Homo sapiens_hsa054161.03080856
49Transcriptional misregulation in cancer_Homo sapiens_hsa052021.01670189
50Pancreatic cancer_Homo sapiens_hsa052120.97037162
51Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.95900231
52* Insulin resistance_Homo sapiens_hsa049310.94369652
53Graft-versus-host disease_Homo sapiens_hsa053320.94303647
54Adipocytokine signaling pathway_Homo sapiens_hsa049200.92661503
55Prolactin signaling pathway_Homo sapiens_hsa049170.91208986
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.90728289
57Small cell lung cancer_Homo sapiens_hsa052220.90604275
58Hepatitis C_Homo sapiens_hsa051600.89593506
59Glycosaminoglycan degradation_Homo sapiens_hsa005310.88854022
60Endometrial cancer_Homo sapiens_hsa052130.88795985
61Platelet activation_Homo sapiens_hsa046110.88220798
62Arginine biosynthesis_Homo sapiens_hsa002200.84794190
63Bladder cancer_Homo sapiens_hsa052190.83796249
64Phagosome_Homo sapiens_hsa041450.82418696
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.80772758
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.78514307
67Viral carcinogenesis_Homo sapiens_hsa052030.77823320
68ABC transporters_Homo sapiens_hsa020100.76862789
69Prion diseases_Homo sapiens_hsa050200.76282690
70Choline metabolism in cancer_Homo sapiens_hsa052310.76250106
71Asthma_Homo sapiens_hsa053100.75113346
72GnRH signaling pathway_Homo sapiens_hsa049120.74184916
73* HTLV-I infection_Homo sapiens_hsa051660.74005549
74Endocytosis_Homo sapiens_hsa041440.73930772
75Other glycan degradation_Homo sapiens_hsa005110.73181401
76Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.71947845
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.71746592
78ErbB signaling pathway_Homo sapiens_hsa040120.71176371
79Type II diabetes mellitus_Homo sapiens_hsa049300.68583433
80Colorectal cancer_Homo sapiens_hsa052100.67890776
81Sulfur relay system_Homo sapiens_hsa041220.67497975
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67232221
83Salmonella infection_Homo sapiens_hsa051320.65423091
84Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.65159933
85Amoebiasis_Homo sapiens_hsa051460.62722904
86Caffeine metabolism_Homo sapiens_hsa002320.61453174
87Inositol phosphate metabolism_Homo sapiens_hsa005620.60022080
88HIF-1 signaling pathway_Homo sapiens_hsa040660.59695284
89Glioma_Homo sapiens_hsa052140.59044038
90Autoimmune thyroid disease_Homo sapiens_hsa053200.56861569
91Insulin signaling pathway_Homo sapiens_hsa049100.56551049
92Estrogen signaling pathway_Homo sapiens_hsa049150.55869883
93Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.55347347
94Tryptophan metabolism_Homo sapiens_hsa003800.55286182
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54387802
96Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52954173
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52541487
98Thyroid cancer_Homo sapiens_hsa052160.52076228
99Lysosome_Homo sapiens_hsa041420.50498133
100Proteoglycans in cancer_Homo sapiens_hsa052050.50471342
101VEGF signaling pathway_Homo sapiens_hsa043700.50106352
102FoxO signaling pathway_Homo sapiens_hsa040680.50026027
103mTOR signaling pathway_Homo sapiens_hsa041500.47542738
104Non-small cell lung cancer_Homo sapiens_hsa052230.46635656
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46623483
106PPAR signaling pathway_Homo sapiens_hsa033200.45707264
107MicroRNAs in cancer_Homo sapiens_hsa052060.42836985
108Adherens junction_Homo sapiens_hsa045200.41629282
109Nitrogen metabolism_Homo sapiens_hsa009100.40593346
110Rheumatoid arthritis_Homo sapiens_hsa053230.40211262
111Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39900355
112MAPK signaling pathway_Homo sapiens_hsa040100.39156638
113Phosphatidylinositol signaling system_Homo sapiens_hsa040700.38591917
114Fatty acid degradation_Homo sapiens_hsa000710.38318810
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36774351
116Focal adhesion_Homo sapiens_hsa045100.36232367
117Pathways in cancer_Homo sapiens_hsa052000.36165082
118Epstein-Barr virus infection_Homo sapiens_hsa051690.35965810
119Steroid hormone biosynthesis_Homo sapiens_hsa001400.35727202
120Prostate cancer_Homo sapiens_hsa052150.33909394
121Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.32934456
122Renal cell carcinoma_Homo sapiens_hsa052110.31598600
123Rap1 signaling pathway_Homo sapiens_hsa040150.31430608
124Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.29522674

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