IL4R (interleukin 4 receptor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3566
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 4 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL4R
Synonyms (NCBI Gene) Gene synonyms aliases
CD124, IL-4RA, IL4RA
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 ce
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs1801275 A>G Risk-factor Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1805010 A>C,G,T Protective, pathogenic Missense variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs6413500 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance 3 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(58)
miRTarBase ID miRNA Experiments Reference
MIRT043562 hsa-miR-331-3p CLASH 23622248
MIRT497252 hsa-miR-4724-5p PAR-CLIP 22291592
MIRT497251 hsa-miR-4780 PAR-CLIP 22291592
MIRT497250 hsa-miR-2277-3p PAR-CLIP 22291592
MIRT497252 hsa-miR-4724-5p PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002532 Process Production of molecular mediator involved in inflammatory response IEA
GO:0002639 Process Positive regulation of immunoglobulin production IEA
GO:0004896 Function Cytokine receptor activity IEA
GO:0004913 Function Interleukin-4 receptor activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147781 6015 ENSG00000077238
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P24394
Protein name Interleukin-4 receptor subunit alpha (IL-4 receptor subunit alpha) (IL-4R subunit alpha) (IL-4R-alpha) (IL-4RA) (CD antigen CD124) [Cleaved into: Soluble interleukin-4 receptor subunit alpha (Soluble IL-4 receptor subunit alpha) (Soluble IL-4R-alpha) (sIL
Protein function Receptor for both interleukin 4 and interleukin 13 (PubMed:17030238). Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, che
PDB 1IAR , 1IRS , 3BPL , 3BPN , 3BPO , 5E4E , 6OEL , 6WGL , 8K4Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09238 IL4Ra_N 28 → 121 Interleukin-4 receptor alpha chain, N-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are highly expressed in activated T-cells.
Sequence 
MGWLCSGLLFPVSCLVLLQVASSGNMKVLQEPTCVSDYMSISTCEWKMNGPTNCSTELRL
LYQLVFLLSEAHTCIPENNGGAGCVCHLLMDDVVSADNYTLDLWAGQQLLWKGSFKPSEH
VKPRAPGNLTVHTNVSDTLLLTWSNPYPPDNYLYNHLTYAVNIWSENDPADFRIYNVTYL
EPSLRIAASTLKSGISYRARVRAWAQCYNTTWSEWSPSTKWHNSYREPFEQHLLLGVSVS
CIVILAVCLLCYVSITKIKKEWWDQIPNPARSRLVAIIIQDAQGSQWEKRSRGQEPAKCP
HWKNCLTKLLPCFLEHNMKRDEDPHKAAKEMPFQGSGKSAWCPVEISKTVLWPESISVVR
CVELFEAPVECEEEEEVEEEKGSFCASPESSRDDFQEGREGIVARLTESLFLDLLGEENG
GFCQQDMGESCLLPPSGSTSAHMPWDEFPSAGPKEAPPWGKEQPLHLEPSPPASPTQSPD
NLTCTETPLVIAGNPAYRSFSNSLSQSPCPRELGPDPLLARHLEEVEPEMPCVPQLSEPT
TVPQPEPETWEQILRRNVLQHGAAAAPVSAPTSGYQEFVHAVEQGGTQASAVVGLGPPGE
AGYKAFSSLLASSAVSPEKCGFGASSGEEGYKPFQDLIPGCPGDPAPVPVPLFTFGLDRE
PPRSPQSSHLPSSSPEHLGLEPGEKVEDMPKPPLPQEQATDPLVDSLGSGIVYSALTCHL
CGHLKQCHGQEDGGQTPVMASPCCGCCCGDRSSPPTTPLRAPDPSPGGVPLEASLCPASL
APSGISEKSKSSSSFHPAPGNAQSSSQTPKIVNFVSVGPTYMRVS
Sequence length 825
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Pathways in cancer
Inflammatory bowel disease 		  Interleukin-4 and Interleukin-13 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Pediatric asthma, Asthma (time to onset), Asthma, Asthma (childhood onset), Age of onset of childhood onset asthma, Nonatopic asthma, Atopic asthma, Asthma in any disease, Asthma (adult onset), Asthma onset (childhood vs adult) N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (138)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 22705603
AIDS related Kaposi sarcoma Associate 9205948
Alopecia Areata Associate 33099386
Alzheimer Disease Associate 30193587
Anthracosis Associate 21857939
Arthritis Juvenile Associate 20444266
Arthritis Psoriatic Associate 12445201
Arthritis Rheumatoid Associate 15497451, 16646030, 20444266, 21294892, 23983153, 30890897
Asthma Associate 10677312, 11258628, 11709756, 12133990, 16024651, 16757160, 17170387, 17303794, 17392323, 20128416, 21103062, 21324477, 22533235, 22541248, 23527710
View all (13 more)
Astrocytoma Associate 10946814, 27495027