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Aliases for IL21R Gene

Aliases for IL21R Gene

  • Interleukin 21 Receptor 2 3 5
  • Novel Interleukin Receptor 3 4
  • IL-21 Receptor 3 4
  • NILR 3 4
  • Interleukin-21 Receptor 3
  • CD360 Antigen 4
  • IL-21R 4
  • CD360 3

External Ids for IL21R Gene

Previous GeneCards Identifiers for IL21R Gene

  • GC16P026842
  • GC16P027512
  • GC16P027341
  • GC16P027380
  • GC16P027321
  • GC16P025501

Summaries for IL21R Gene

Entrez Gene Summary for IL21R 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 receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

GeneCards Summary for IL21R Gene

IL21R (Interleukin 21 Receptor) is a Protein Coding gene. Diseases associated with IL21R include Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related and Il21r-Related Immunodeficiency. Among its related pathways are IL-4 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types and Jak-STAT signaling pathway (KEGG). GO annotations related to this gene include interleukin-21 receptor activity.

UniProtKB/Swiss-Prot for IL21R Gene

  • This is a receptor for interleukin-21.

Gene Wiki entry for IL21R Gene

Additional gene information for IL21R Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL21R Gene

Genomics for IL21R Gene

Regulatory Elements for IL21R Gene

Enhancers for IL21R Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H027372 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.9 -28.0 -27953 3.6 HDGF PKNOX1 SIN3A ARID4B ZNF143 ATF7 FOS RUNX3 NFYC REST IL21R C16orf82 IL4R PIR58561
GH16H027400 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +2.6 2599 8.8 HDGF PKNOX1 FOXA2 SIN3A ARID4B SLC30A9 ZNF143 ZNF207 FOS ATF7 IL21R KDM8 IL21R-AS1
GH16H027363 1.6 Ensembl ENCODE dbSUPER 12.5 -35.3 -35270 7.1 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 IL21R IL4R PIR58561
GH16H027425 1.4 Ensembl ENCODE dbSUPER 12.6 +24.5 24510 1.7 HDAC1 HDGF PKNOX1 TBL1XR1 ARNT BATF ZNF143 ZNF207 FOS ATF7 IL21R IL21R-AS1
GH16H027429 1.2 ENCODE dbSUPER 12.6 +29.5 29474 3.3 PKNOX1 ARNT TCF12 GTF3C2 GATA2 ZNF143 FOS ATF7 RUNX3 NCOA1 IL21R KDM8 EIF3CL IL21R-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL21R on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the IL21R gene promoter:

Genomic Locations for IL21R Gene

Genomic Locations for IL21R Gene
49,881 bases
Plus strand

Genomic View for IL21R Gene

Genes around IL21R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL21R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL21R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL21R Gene

Proteins for IL21R Gene

  • Protein details for IL21R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Interleukin-21 receptor
    Protein Accession:
    Secondary Accessions:
    • A8K9E8
    • D3DWF7
    • Q96HZ1
    • Q9HB91

    Protein attributes for IL21R Gene

    538 amino acids
    Molecular mass:
    59130 Da
    Quaternary structure:
    • Heterodimer with the common gamma subunit. Associates with JAK1.

    Three dimensional structures from OCA and Proteopedia for IL21R Gene

neXtProt entry for IL21R Gene

Post-translational modifications for IL21R Gene

  • C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.
  • Glycosylation at isoforms=73, isoforms=97, isoforms=104, isoforms=125, isoforms=135, and posLast=214214
  • Modification sites at PhosphoSitePlus

Other Protein References for IL21R Gene

No data available for DME Specific Peptides for IL21R Gene

Domains & Families for IL21R Gene

Gene Families for IL21R Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for IL21R Gene

Suggested Antigen Peptide Sequences for IL21R Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with IL21R: view

Function for IL21R Gene

Molecular function for IL21R Gene

UniProtKB/Swiss-Prot Function:
This is a receptor for interleukin-21.

Phenotypes From GWAS Catalog for IL21R Gene

Gene Ontology (GO) - Molecular Function for IL21R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001532 interleukin-21 receptor activity NAS 11081504
GO:0004896 cytokine receptor activity IEA --
genes like me logo Genes that share ontologies with IL21R: view
genes like me logo Genes that share phenotypes with IL21R: view

Human Phenotype Ontology for IL21R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IL21R Gene

MGI Knock Outs for IL21R:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IL21R Gene

Localization for IL21R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL21R Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL21R gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytosol 2
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IL21R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 11081504
genes like me logo Genes that share ontologies with IL21R: view

Pathways & Interactions for IL21R Gene

genes like me logo Genes that share pathways with IL21R: view

SIGNOR curated interactions for IL21R Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IL21R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019221 cytokine-mediated signaling pathway IEA --
GO:0030101 natural killer cell activation NAS 11081504
GO:0038114 interleukin-21-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with IL21R: view

Drugs & Compounds for IL21R Gene

(1) Drugs for IL21R Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Denenicokin Investigational Pharma 0
genes like me logo Genes that share compounds with IL21R: view

Transcripts for IL21R Gene

Unigene Clusters for IL21R Gene

Interleukin 21 receptor:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL21R Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - - - - - -
SP3: - - -
SP4: - - - - - -
SP7: -

Relevant External Links for IL21R Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for IL21R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL21R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IL21R Gene

This gene is overexpressed in Whole Blood (x5.8).

NURSA nuclear receptor signaling pathways regulating expression of IL21R Gene:


SOURCE GeneReport for Unigene cluster for IL21R Gene:


mRNA Expression by UniProt/SwissProt for IL21R Gene:

Tissue specificity: Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.

Evidence on tissue expression from TISSUES for IL21R Gene

  • Blood(2.6)
  • Lymph node(2.2)
  • Spleen(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IL21R Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • salivary gland
  • sinus
  • skull
  • breast
  • bronchus
  • esophagus
  • lung
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • anus
  • rectum
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IL21R: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for IL21R Gene

Orthologs for IL21R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL21R Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia IL21R 33 34
  • 98.99 (n)
(Canis familiaris)
Mammalia IL21R 33 34
  • 79.82 (n)
(Bos Taurus)
Mammalia IL21R 33 34
  • 76.8 (n)
(Rattus norvegicus)
Mammalia Il21r 33
  • 73.78 (n)
(Mus musculus)
Mammalia Il21r 16 34 33
  • 73.52 (n)
(Monodelphis domestica)
Mammalia IL21R 34
  • 38 (a)
(Ornithorhynchus anatinus)
Mammalia IL21R 34
  • 36 (a)
(Gallus gallus)
Aves IL21R 34 33
  • 50.88 (n)
(Anolis carolinensis)
Reptilia IL21R 34
  • 28 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia il21r 33
  • 44.49 (n)
(Danio rerio)
Actinopterygii il21r 33 34
  • 40.87 (n)
il21rl 34
  • 32 (a)
Species where no ortholog for IL21R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IL21R Gene

Gene Tree for IL21R (if available)
Gene Tree for IL21R (if available)

Paralogs for IL21R Gene

No data available for Paralogs for IL21R Gene

Variants for IL21R Gene

Sequence variations from dbSNP and Humsavar for IL21R Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs397514685 Pathogenic, IL21R immunodeficiency (IL21RID) [MIM:615207] 27,444,636(+) GGTGC(G/T)GGCAG reference, missense
rs886037632 Pathogenic 27,437,576(+) ACACC(-/TGCCAC)ATGGA cds-indel
rs745372589 Likely pathogenic 27,443,076(+) TCAGT(A/G)TGAGC intron-variant, reference, missense
rs52822694 Uncertain significance 27,446,045(+) TGAGC(A/G/T)GTTCT reference, missense
rs56148525 Uncertain significance 27,448,699(+) CTGAC(A/G)GTGTG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for IL21R Gene

Variant ID Type Subtype PubMed ID
nsv833179 CNV loss 17160897
nsv1773 CNV insertion 18451855
nsv1059454 CNV gain 25217958
esv3638325 CNV loss 21293372
esv3404624 CNV insertion 20981092
esv2663164 CNV deletion 23128226

Variation tolerance for IL21R Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL21R Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL21R Gene

Disorders for IL21R Gene

MalaCards: The human disease database

(8) MalaCards diseases for IL21R Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, primary, autosomal recessive, il21r-related
  • cryptosporidiosis-chronic cholangitis-liver disease syndrome
il21r-related immunodeficiency
  • immunodeficiency, primary, autosomal recessive, il21r-related
beta-lactam allergy
chronic cholangitis
smoldering myeloma
- elite association - COSMIC cancer census association via MalaCards
Search IL21R in MalaCards View complete list of genes associated with diseases


  • IL21R immunodeficiency (IL21RID) [MIM:615207]: An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. {ECO:0000269 PubMed:23440042}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.

Relevant External Links for IL21R

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with IL21R: view

No data available for Genatlas for IL21R Gene

Publications for IL21R Gene

  1. IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. (PMID: 19874204) Guo Y … Deng HW (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010) 3 22 45 60
  2. A polymorphism within IL21R confers risk for systemic lupus erythematosus. (PMID: 19644854) Webb R … Sawalha AH (Arthritis and rheumatism 2009) 3 22 45 60
  3. Molecular scanning of interleukin-21 gene and genetic susceptibility to type 1 diabetes. (PMID: 17462506) Asano K … Ogihara T (Human immunology 2007) 3 22 45 60
  4. IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women. (PMID: 16867043) Guglielmi L … Demoly P (Allergy 2006) 3 22 45 60
  5. Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females. (PMID: 12700598) Hecker M … Hackstein H (Genes and immunity 2003) 3 22 45 60

Products for IL21R Gene

Sources for IL21R Gene

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