Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50615
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 21 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL21R
Synonyms (NCBI Gene) Gene synonyms aliases
CD360, IMD56, NILR
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.
The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs52822694 G>A,T Benign-likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397514685 G>A,T Pathogenic Missense variant, coding sequence variant
rs886037632 TGCCAC>- Pathogenic Inframe deletion, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018475 hsa-miR-335-5p Microarray 18185580
MIRT019448 hsa-miR-148b-3p Microarray 17612493
MIRT025813 hsa-miR-7-5p Microarray 17612493
MIRT142654 hsa-miR-8485 HITS-CLIP 23824327
MIRT142636 hsa-miR-4789-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001532 Function Interleukin-21 receptor activity NAS 11081504
GO:0004888 Function Transmembrane signaling receptor activity IDA 11016959
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IDA 11016959
GO:0004896 Function Cytokine receptor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605383 6006 ENSG00000103522
Protein
UniProt ID Q9HBE5
Protein name Interleukin-21 receptor (IL-21 receptor) (IL-21R) (Novel interleukin receptor) (CD antigen CD360)
Protein function This is a receptor for interleukin-21.
PDB 3TGX , 4NZD , 6PLH , 7KQ7 , 8ENT
Family and domains
Tissue specificity TISSUE SPECIFICITY: Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.
Sequence
MPRGWAAPLLLLLLQGGWGCPDLVCYTDYLQTVICILEMWNLHPSTLTLTWQDQYEELKD
EATSCSLHRSAHNATHATYTCHMDVFHFMADDIFSVNITDQSGNYSQECGSFLLAESIKP
APPFNVTVTFSGQYNISWRSDYEDPAFYMLKGKLQYELQYRNRGDPWAVSPRRKLISVDS
RSVSLLPLEFRKDSSYELQVRAGPMPGSSYQGTWSEWSDPVIFQTQSEELKEGWNPHLLL
LLLLVIVFIPAFWSLKTHPLWRLWKKIWAVPSPERFFMPLYKGCSGDFKKWVGAPFTGSS
LELGPWSPEVPSTLEVYSCHPPRSPAKRLQLTELQEPAELVESDGVPKPSFWPTAQNSGG
SAYSEERDRPYGLVSIDTVTVLDAEGPCTWPCSCEDDGYPALDLDAGLEPSPGLEDPLLD
AGTTVLSCGCVSAGSPGLGGPLGSLLDRLKPPLADGEDWAGGLPWGGRSPGGVSESEAGS
PLAGLDMDTFDSGFVGSDCSSPVECDFTSPGDEGPPRSYLRQWVVIPPPLSSPGPQAS
Sequence length 538
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Th17 cell differentiation
Inflammatory bowel disease
  Interleukin-21 signaling
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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 Asthma in any disease, Asthma, Asthma (childhood onset), Atopic asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Cholangitis cryptosporidiosis-chronic cholangitis-liver disease syndrome N/A N/A GenCC
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 39457093
Arthritis Rheumatoid Stimulate 17032244, 26482544
Arthritis Rheumatoid Associate 24757284, 37107636
Brain Ischemia Associate 26705256
Breast Neoplasms Associate 36189580
Carcinoma Hepatocellular Associate 30758075
Carcinoma Non Small Cell Lung Associate 31573051
Chronic Disease Associate 24757284
Colitis Ulcerative Associate 37843347
Common Variable Immunodeficiency Associate 18254984, 35570134