Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IL4R (interleukin 4 receptor)

Identity

Alias_symbol (synonym)CD124
Other aliasIL-4RA
IL4RA
HGNC (Hugo) IL4R
LocusID (NCBI) 3566
Atlas_Id 43873
Location 16p12.1  [Link to chromosome band 16p12]
Location_base_pair Starts at 27313909 and ends at 27364778 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FKBP15 (9q32) / IL4R (16p12.1)IL4R (16p12.1) / FCHO1 (19p13.11)IL4R (16p12.1) / NSMCE1 (16p12.1)
IL4R (16p12.1) / S100A16 (1q21.3)NSMCE1 (16p12.1) / IL4R (16p12.1)ZNF207 (17q11.2) / IL4R (16p12.1)
IL4R 16p12.1 / NSMCE1 16p12.1NSMCE1 16p12.1 / IL4R 16p12.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  IL4R/NSMCE1 (16p12)
NSMCE1/IL4R (16p12)

External links

Nomenclature
HGNC (Hugo)IL4R   6015
Cards
Entrez_Gene (NCBI)IL4R  3566  interleukin 4 receptor
AliasesCD124; IL-4RA; IL4RA
GeneCards (Weizmann)IL4R
Ensembl hg19 (Hinxton)ENSG00000077238 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077238 [Gene_View]  ENSG00000077238 [Sequence]  chr16:27313909-27364778 [Contig_View]  IL4R [Vega]
ICGC DataPortalENSG00000077238
TCGA cBioPortalIL4R
AceView (NCBI)IL4R
Genatlas (Paris)IL4R
WikiGenes3566
SOURCE (Princeton)IL4R
Genetics Home Reference (NIH)IL4R
Genomic and cartography
GoldenPath hg38 (UCSC)IL4R  -     chr16:27313909-27364778 +  16p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IL4R  -     16p12.1   [Description]    (hg19-Feb_2009)
GoldenPathIL4R - 16p12.1 [CytoView hg19]  IL4R - 16p12.1 [CytoView hg38]
ImmunoBaseENSG00000077238
Mapping of homologs : NCBIIL4R [Mapview hg19]  IL4R [Mapview hg38]
OMIM147050   147781   609423   
Gene and transcription
Genbank (Entrez)AA838318 AB102798 AK223591 AK303255 AK314863
RefSeq transcript (Entrez)NM_000418 NM_001008699 NM_001257406 NM_001257407 NM_001257997
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IL4R
Cluster EST : UnigeneHs.742121 [ NCBI ]
CGAP (NCI)Hs.742121
Alternative Splicing GalleryENSG00000077238
Gene ExpressionIL4R [ NCBI-GEO ]   IL4R [ EBI - ARRAY_EXPRESS ]   IL4R [ SEEK ]   IL4R [ MEM ]
Gene Expression Viewer (FireBrowse)IL4R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3566
GTEX Portal (Tissue expression)IL4R
Human Protein AtlasENSG00000077238-IL4R [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24394   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24394  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24394
Splice isoforms : SwissVarP24394
PhosPhoSitePlusP24394
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_S_F1 (PS01355)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Hempt_rcpt_S_F1_CS    Ig-like_fold    IL-4_rcpt-alpha_N   
Domain families : Pfam (Sanger)IL4Ra_N (PF09238)   
Domain families : Pfam (NCBI)pfam09238   
Conserved Domain (NCBI)IL4R
DMDM Disease mutations3566
Blocks (Seattle)IL4R
PDB (RSDB)1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
PDB Europe1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
PDB (PDBSum)1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
PDB (IMB)1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
Structural Biology KnowledgeBase1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
SCOP (Structural Classification of Proteins)1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
CATH (Classification of proteins structures)1IAR    1IRS    1ITE    3BPL    3BPN    3BPO    5E4E   
SuperfamilyP24394
Human Protein Atlas [tissue]ENSG00000077238-IL4R [tissue]
Peptide AtlasP24394
HPRD00990
IPIIPI00444383   IPI00444384   IPI01011246   IPI01011686   IPI00554553   
Protein Interaction databases
DIP (DOE-UCLA)P24394
IntAct (EBI)P24394
FunCoupENSG00000077238
BioGRIDIL4R
STRING (EMBL)IL4R
ZODIACIL4R
Ontologies - Pathways
QuickGOP24394
Ontology : AmiGOproduction of molecular mediator involved in inflammatory response  positive regulation of immunoglobulin production  interleukin-4 receptor activity  protein binding  extracellular space  plasma membrane  integral component of plasma membrane  immune response  signal transduction  immunoglobulin mediated immune response  cytokine-mediated signaling pathway  ovulation  interleukin-4-mediated signaling pathway  regulation of cell proliferation  defense response to protozoan  positive regulation of macrophage activation  receptor complex  positive regulation of mast cell degranulation  response to estrogen  negative regulation of T-helper 1 cell differentiation  positive regulation of T-helper 2 cell differentiation  positive regulation of chemokine secretion  positive regulation of cold-induced thermogenesis  positive regulation of myoblast fusion  response to odorant  
Ontology : EGO-EBIproduction of molecular mediator involved in inflammatory response  positive regulation of immunoglobulin production  interleukin-4 receptor activity  protein binding  extracellular space  plasma membrane  integral component of plasma membrane  immune response  signal transduction  immunoglobulin mediated immune response  cytokine-mediated signaling pathway  ovulation  interleukin-4-mediated signaling pathway  regulation of cell proliferation  defense response to protozoan  positive regulation of macrophage activation  receptor complex  positive regulation of mast cell degranulation  response to estrogen  negative regulation of T-helper 1 cell differentiation  positive regulation of T-helper 2 cell differentiation  positive regulation of chemokine secretion  positive regulation of cold-induced thermogenesis  positive regulation of myoblast fusion  response to odorant  
Pathways : KEGGCytokine-cytokine receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway    Hematopoietic cell lineage    Inflammatory bowel disease (IBD)   
NDEx NetworkIL4R
Atlas of Cancer Signalling NetworkIL4R
Wikipedia pathwaysIL4R
Orthology - Evolution
OrthoDB3566
GeneTree (enSembl)ENSG00000077238
Phylogenetic Trees/Animal Genes : TreeFamIL4R
HOGENOMP24394
Homologs : HomoloGeneIL4R
Homology/Alignments : Family Browser (UCSC)IL4R
Gene fusions - Rearrangements
Fusion : MitelmanIL4R/NSMCE1 [16p12.1/16p12.1]  
Fusion : MitelmanNSMCE1/IL4R [16p12.1/16p12.1]  [t(16;16)(p12;p12)]  
Fusion PortalIL4R 16p12.1 NSMCE1 16p12.1 SKCM
Fusion PortalNSMCE1 16p12.1 IL4R 16p12.1 SKCM
Fusion : QuiverIL4R
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIL4R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL4R
dbVarIL4R
ClinVarIL4R
1000_GenomesIL4R 
Exome Variant ServerIL4R
ExAC (Exome Aggregation Consortium)ENSG00000077238
GNOMAD BrowserENSG00000077238
Varsome BrowserIL4R
Genetic variants : HAPMAP3566
Genomic Variants (DGV)IL4R [DGVbeta]
DECIPHERIL4R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIL4R 
Mutations
ICGC Data PortalIL4R 
TCGA Data PortalIL4R 
Broad Tumor PortalIL4R
OASIS PortalIL4R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL4R  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIL4R
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IL4R
DgiDB (Drug Gene Interaction Database)IL4R
DoCM (Curated mutations)IL4R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL4R (select a term)
intoGenIL4R
Cancer3DIL4R(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147050    147781    609423   
Orphanet
DisGeNETIL4R
MedgenIL4R
Genetic Testing Registry IL4R
NextProtP24394 [Medical]
TSGene3566
GENETestsIL4R
Target ValidationIL4R
Huge Navigator IL4R [HugePedia]
snp3D : Map Gene to Disease3566
BioCentury BCIQIL4R
ClinGenIL4R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3566
Chemical/Pharm GKB GenePA29832
Clinical trialIL4R
Miscellaneous
canSAR (ICR)IL4R (select the gene name)
DataMed IndexIL4R
Probes
Litterature
PubMed423 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL4R
EVEXIL4R
GoPubMedIL4R
iHOPIL4R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Jul 8 11:24:38 CEST 2019
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