Gene Gene information from NCBI Gene database.
Entrez ID 50615
Gene name Interleukin 21 receptor
Gene symbol IL21R
Synonyms (NCBI Gene)
CD360IMD56NILR
Chromosome 16
Chromosome location 16p12.1
Summary 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.
3
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.
377
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605383 6006 ENSG00000103522
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cryptosporidiosis-chronic cholangitis-liver disease syndrome Pathogenic; Likely pathogenic rs2141313155, rs2141318549, rs2543384162, rs2141306468, rs2543346495, rs886037632, rs397514685, rs2087297703 RCV001805747
RCV002251177
RCV002585932
RCV002919106
RCV003041893
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 39457093 Associate
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 11821949
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 15638850
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 28836555
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31540511
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 25447400
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 17032244, 26482544 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24757284, 37107636 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 23628948, 30654048
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 31811869
★☆☆☆☆
Found in Text Mining only