Disease table of IGE RESPONSIVENESS, ATOPIC OMIM ID: 147050

Gene-disease associations table

GeneAssociated with IGE RESPONSIVENESS, ATOPIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PHF11OMIMHGNC link13q14.22147050, 600807
SELPOMIMHGNC link1q24.21147050
IL21ROMIMHGNC link16p12.12147050, 615207
PLA2G7OMIMHGNC link6p12.33600807, 147050, 614278
SPINK5OMIMHGNC link5q323256500, 600807, 147050
MS4A2OMIMHGNC link11q12.11147050
HAVCR1OMIMHGNC link5q33.31147050
IL4ROMIMHGNC link16p12.12147050, 609423

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
16p12.12IL4R, IL21R
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
16p122IL4R, IL21R
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
16p12IL4R, IL21R
5q32HAVCR1, SPINK5
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
5q2HAVCR1, SPINK5
16p2IL4R, IL21R
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162IL4R, IL21R
52HAVCR1, SPINK5
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SELPYES2STAT6, NFKB20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
IL21RIL4RNo1JAK1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SELPIL4RNo-1STAT6
IL21RMS4A2No-2CBLB, CBL
IL21RIL4RNo-67IL2, TYK2, OSM, IFNA5, PRL, IL12A, IL28A, IFNA13, IFNG, EPO, IL6, CBLC, IL20, SOCS2, CBLB, IL29, CSF2, CSF3, IFNA14, GH2, CTF1, TPO, SOCS4, JAK1, SOCS3, IFNA17, IL15, IFNA7, IFNA2, LEP, CLCF1, CSH2, IFNE, IL7, IFNA21, IFNB1, IFNA10, IFNA1, IL10, IL28B, IL26, IL13, IFNA6, JAK2, SOCS5, IL9, CNTF, SOCS1, IFNA4, IL19, IFNW1, IL24, IL4, SOCS7, IL3, IL23A, IFNK, IL21, IL5, GH1, TSLP, IFNA8, IL11, IFNA16, CBL, IL22, CSH1
MS4A2IL4RNo-7CBL, PIK3CA, SHC1, PIK3R1, INPP5D, GRB2, CBLB

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Inflammatory bowel disease (IBD)hsa053216.432IL21R, IL4R
Cytokine-cytokine receptor interactionhsa040604.672IL21R, IL4R
Jak-STAT signaling pathwayhsa046305.442IL21R, IL4R

NET-GE enrichment

Term New enriched termICP valueGenes
Immune diseasesNEW4.470.021IL21R, MS4A2, SELP, IL4R
Inflammatory bowel disease (IBD) (hsa05321) -6.430.033IL21R, IL4R
Jak-STAT signaling pathway (hsa04630) -5.440.014IL21R, IL4R, SELP
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185PHF11, PLA2G7, MS4A2, SELP, IL4R
molecular transducer activity (GO:0060089) 2.323IL21R, HAVCR1, IL4R
receptor activity (GO:0004872) 2.323IL21R, IL4R, HAVCR1
protein binding (GO:0005515) 0.463MS4A2, SELP, IL4R
signaling receptor activity (GO:0038023) 2.492IL21R, IL4R
lipid binding (GO:0008289) 3.262PLA2G7, SELP
ion binding (GO:0043167) 1.362PHF11, SELP
transmembrane signaling receptor activity (GO:0004888) 2.572IL21R, IL4R
signal transducer activity (GO:0004871) 2.282IL21R, IL4R
transmembrane receptor activity (GO:0099600) 2.532IL21R, IL4R
cytokine receptor activity (GO:0004896) 5.242IL21R, IL4R

NET-GE enrichment

Term New enriched termICP valueGenes
cytokine receptor activity (GO:0004896) -5.240.039IL21R, IL4R
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.397MS4A2, IL21R, SELP, SPINK5, IL4R, PHF11, PLA2G7
regulation of biological process (GO:0050789) 0.457MS4A2, IL21R, SELP, SPINK5, IL4R, PHF11, PLA2G7
regulation of cellular process (GO:0050794) 0.57MS4A2, IL21R, SELP, SPINK5, IL4R, PHF11, PLA2G7
cellular process (GO:0009987) 0.266IL21R, SELP, SPINK5, PHF11, PLA2G7, HAVCR1
regulation of response to stimulus (GO:0048583) 1.545SELP, PLA2G7, SPINK5, MS4A2, IL4R
regulation of immune system process (GO:0002682) 2.55MS4A2, PLA2G7, SPINK5, SELP, IL4R
single-organism process (GO:0044699) 0.485PLA2G7, IL21R, SPINK5, SELP, IL4R
immune system process (GO:0002376) 2.294IL21R, MS4A2, SELP, IL4R
single-organism cellular process (GO:0044763) 0.654PLA2G7, IL21R, SPINK5, SELP
signal transduction (GO:0007165) 1.284IL21R, SELP, MS4A2, IL4R
regulation of localization (GO:0032879) 1.943PLA2G7, IL4R, SELP
cell surface receptor signaling pathway (GO:0007166) 2.093IL21R, IL4R, MS4A2
regulation of response to external stimulus (GO:0032101) 3.063PLA2G7, SPINK5, SELP
regulation of cell activation (GO:0050865) 3.533SPINK5, IL4R, SELP
response to stimulus (GO:0050896) 1.223SELP, MS4A2, IL4R
positive regulation of response to stimulus (GO:0048584) 2.183PLA2G7, IL4R, SELP
response to stress (GO:0006950) 1.83SELP, MS4A2, IL4R
defense response (GO:0006952) 2.783MS4A2, SELP, IL4R
positive regulation of immune system process (GO:0002684) 2.963PLA2G7, IL4R, SELP
regulation of immune response (GO:0050776) 2.983SPINK5, IL4R, MS4A2
regulation of multicellular organismal process (GO:0051239) 1.873SPINK5, IL4R, SELP
positive regulation of biological process (GO:0048518) 1.23PLA2G7, IL4R, SELP
regulation of cell adhesion (GO:0030155) 3.273SPINK5, IL4R, SELP
positive regulation of cellular process (GO:0048522) 1.33PLA2G7, IL4R, SELP
regulation of response to stress (GO:0080134) 2.533PLA2G7, SPINK5, SELP
multi-organism process (GO:0051704) 2.653HAVCR1, IL4R, SELP
cytokine-mediated signaling pathway (GO:0019221) 3.62IL21R, IL4R
regulation of metabolic process (GO:0019222) 1.022PHF11, SPINK5
regulation of anatomical structure morphogenesis (GO:0022603) 2.792SPINK5, IL4R
positive regulation of cell activation (GO:0050867) 3.972IL4R, SELP
immune response (GO:0006955) 2.862IL4R, MS4A2
regulation of cellular metabolic process (GO:0031323) 1.072PHF11, SPINK5
regulation of T cell activation (GO:0050863) 4.052SPINK5, IL4R
regulation of cellular component organization (GO:0051128) 2.012IL4R, SELP
regulation of T cell differentiation (GO:0045580) 5.072SPINK5, IL4R
regulation of cell-cell adhesion (GO:0022407) 3.792SPINK5, IL4R
regulation of cell migration (GO:0030334) 3.232PLA2G7, SELP
regulation of production of molecular mediator of immune response (GO:0002700) 5.12SPINK5, IL4R
cellular component organization or biogenesis (GO:0071840) 1.222PLA2G7, SPINK5
single-multicellular organism process (GO:0044707) 1.782PLA2G7, IL4R
regulation of defense response (GO:0031347) 3.112PLA2G7, SPINK5
regulation of primary metabolic process (GO:0080090) 1.082PHF11, SPINK5
regulation of lymphocyte activation (GO:0051249) 3.732SPINK5, IL4R
response to external biotic stimulus (GO:0043207) 3.132IL4R, SELP
positive regulation of cell adhesion (GO:0045785) 3.792IL4R, SELP
response to other organism (GO:0051707) 3.482IL4R, SELP
positive regulation of multicellular organismal process (GO:0051240) 2.492IL4R, SELP
negative regulation of multicellular organismal process (GO:0051241) 2.842SPINK5, IL4R
regulation of immune effector process (GO:0002697) 3.712SPINK5, IL4R
cellular component organization (GO:0016043) 1.242PLA2G7, SPINK5
positive regulation of leukocyte migration (GO:0002687) 5.052PLA2G7, SELP
regulation of leukocyte migration (GO:0002685) 4.722PLA2G7, SELP
negative regulation of immune system process (GO:0002683) 3.852SPINK5, IL4R
regulation of cell motility (GO:2000145) 3.162PLA2G7, SELP
negative regulation of response to stimulus (GO:0048585) 2.522SPINK5, IL4R
regulation of leukocyte cell-cell adhesion (GO:1903037) 4.012SPINK5, IL4R
positive regulation of cell migration (GO:0030335) 3.772PLA2G7, SELP
multicellular organismal process (GO:0032501) 1.452PLA2G7, IL4R
metabolic process (GO:0008152) 0.582PHF11, PLA2G7
primary metabolic process (GO:0044238) 0.692PHF11, PLA2G7
regulation of developmental process (GO:0050793) 2.12SPINK5, IL4R
organic substance metabolic process (GO:0071704) 0.632PHF11, PLA2G7
regulation of cell differentiation (GO:0045595) 2.422SPINK5, IL4R
regulation of locomotion (GO:0040012) 3.122PLA2G7, SELP
defense response to other organism (GO:0098542) 3.752IL4R, SELP
inflammatory response (GO:0006954) 3.642SELP, MS4A2
negative regulation of biological process (GO:0048519) 1.332SPINK5, IL4R
regulation of hemopoiesis (GO:1903706) 4.02SPINK5, IL4R
negative regulation of developmental process (GO:0051093) 3.172SPINK5, IL4R
positive regulation of cellular component movement (GO:0051272) 3.712PLA2G7, SELP
negative regulation of immune response (GO:0050777) 4.942SPINK5, IL4R
regulation of cellular component movement (GO:0051270) 3.082PLA2G7, SELP
response to biotic stimulus (GO:0009607) 3.092IL4R, SELP
positive regulation of locomotion (GO:0040017) 3.712PLA2G7, SELP
response to external stimulus (GO:0009605) 2.552IL4R, SELP
regulation of macromolecule metabolic process (GO:0060255) 1.082PHF11, SPINK5
cellular metabolic process (GO:0044237) 0.692PHF11, PLA2G7
macromolecule metabolic process (GO:0043170) 0.832PHF11, PLA2G7
regulation of leukocyte activation (GO:0002694) 3.62SPINK5, IL4R
regulation of leukocyte differentiation (GO:1902105) 4.262SPINK5, IL4R
regulation of multicellular organismal development (GO:2000026) 2.312SPINK5, IL4R
regulation of lymphocyte differentiation (GO:0045619) 4.842SPINK5, IL4R
positive regulation of cell motility (GO:2000147) 3.742PLA2G7, SELP
negative regulation of immune effector process (GO:0002698) 5.12SPINK5, IL4R
negative regulation of cellular process (GO:0048523) 1.412SPINK5, IL4R

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of cell activation (GO:0050865) -3.530.007SPINK5, MS4A2, SELP, IL4R
positive regulation of inflammatory response (GO:0050729) NEW4.980.048PLA2G7, IL21R, SELP
regulation of immune system process (GO:0002682) -2.50.035SPINK5, PLA2G7, SELP, MS4A2, IL4R
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.117MS4A2, SELP, SPINK5, IL4R, PHF11, PLA2G7, HAVCR1
membrane part (GO:0044425) 0.956MS4A2, IL21R, SELP, SPINK5, IL4R, HAVCR1
membrane (GO:0016020) 0.686MS4A2, IL21R, SELP, SPINK5, IL4R, HAVCR1
integral component of membrane (GO:0016021) 1.145HAVCR1, IL21R, MS4A2, SELP, IL4R
intrinsic component of membrane (GO:0031224) 1.135HAVCR1, IL21R, SELP, MS4A2, IL4R
intracellular part (GO:0044424) 0.284PHF11, PLA2G7, SPINK5, SELP
extracellular region part (GO:0044421) 1.574PLA2G7, SPINK5, SELP, IL4R
cytoplasm (GO:0005737) 1.013PLA2G7, SPINK5, SELP
macromolecular complex (GO:0032991) 1.353PLA2G7, IL4R, MS4A2
extracellular space (GO:0005615) 2.633PLA2G7, IL4R, SELP
plasma membrane part (GO:0044459) 1.953SELP, MS4A2, IL4R
extracellular region (GO:0005576) 2.183PLA2G7, SPINK5, IL4R
integral component of plasma membrane (GO:0005887) 2.573SELP, MS4A2, IL4R
plasma membrane (GO:0005886) 1.393MS4A2, SELP, IL4R
intrinsic component of plasma membrane (GO:0031226) 2.533MS4A2, SELP, IL4R
organelle (GO:0043226) 0.43PHF11, SPINK5, HAVCR1
protein complex (GO:0043234) 1.512IL4R, MS4A2
external side of plasma membrane (GO:0009897) 4.462MS4A2, SELP
intracellular membrane-bounded organelle (GO:0043231) 0.62PHF11, SPINK5
cytoplasmic part (GO:0044444) 0.822SPINK5, SELP
intracellular organelle part (GO:0044446) 0.812SPINK5, SELP
intracellular organelle (GO:0043229) 0.512PHF11, SPINK5
side of membrane (GO:0098552) 4.222MS4A2, SELP
membrane-bounded organelle (GO:0043227) 0.472PHF11, SPINK5
organelle part (GO:0044422) 0.792SPINK5, SELP