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IL21R Gene

protein-coding   GIFtS: 63
GCID: GC16P027413

Interleukin 21 Receptor

  See IL21R-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interleukin 21 Receptor1 2     CD3602
Novel Interleukin Receptor2 3     Interleukin-21 Receptor2
NILR2 3     IL-21R3
IL-21 Receptor2 3     CD360 Antigen3

External Ids:    HGNC: 60061   Entrez Gene: 506152   Ensembl: ENSG000001035227   OMIM: 6053835   UniProtKB: Q9HBE53   

Export aliases for IL21R gene to outside databases

Previous GC identifers: GC16P026842 GC16P027512 GC16P027341 GC16P027380 GC16P027321 GC16P025501


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 chronic cholangitis. GO annotations related to this gene include interleukin-21 receptor activity.

UniProtKB/Swiss-Prot: IL21R_HUMAN, Q9HBE5
Function: This is a receptor for interleukin-21

Gene Wiki entry for IL21R (Interleukin-21 receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the IL21R gene promoter:
         Sp1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IL21R promoter sequence
   Search Chromatin IP Primers for IL21R

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IL21R


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11   Ensembl cytogenetic band:  16p12.1   HGNC cytogenetic band: 16p11

IL21R Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL21R gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P027413:  view genomic region     (about GC identifiers)

Start:
27,413,483 bp from pter      End:
27,463,363 bp from pter
Size:
49,881 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IL21R_HUMAN, Q9HBE5 (See protein sequence)
Recommended Name: Interleukin-21 receptor precursor  
Size: 538 amino acids; 59130 Da
Subunit: Heterodimer with the common gamma subunit. Associates with JAK1
1 PDB 3D structure from and Proteopedia for IL21R:
3TGX (3D)    
Secondary accessions: A8K9E8 D3DWF7 Q96HZ1 Q9HB91

Explore the universe of human proteins at neXtProt for IL21R: NX_Q9HBE5

Explore proteomics data for IL21R at MOPED

Post-translational modifications: 

  • 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-frame1
  • Glycosylation2 at Asn73, Asn97, Asn104, Asn125, Asn135, Trp214
  • Modification sites at PhosphoSitePlus

  • See IL21R Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_068570.1  NP_851564.1  NP_851565.4  

    ENSEMBL proteins: 
     ENSP00000338010   ENSP00000456707   ENSP00000379103   ENSP00000379104  

    IL21R Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for IL21R
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    Novus Biologicals IL21R Lysates
    Sino Biological Recombinant Protein for IL21R
    Sino Biological Cell Lysate for IL21R
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    Cloud-Clone Corp. Proteins for IL21R

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IL: Interleukins and interleukin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Interleukin 21 receptor
    IL-2 receptor family

    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold
     IPR003531 Hempt_rcpt_S_F1_CS

    Graphical View of Domain Structure for InterPro Entry Q9HBE5

    ProtoNet protein and cluster: Q9HBE5

    1 Blocks protein domain: IPB003531 Short hematopoietin receptor

    UniProtKB/Swiss-Prot: IL21R_HUMAN, Q9HBE5
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 4 subfamily
    Similarity: Contains 2 fibronectin type-III domains


    Find genes that share domains with IL21R           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IL21R_HUMAN, Q9HBE5
    Function: This is a receptor for interleukin-21

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001532interleukin-21 receptor activity NAS11081504
    GO:0005515protein binding ----
         
    Find genes that share ontologies with IL21R           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Il21r):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    Find genes that share phenotypes with IL21R           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for IL21R: Il21rtm1Wjl Il21rtm1Lex Il21rtm1Day Il21rtm1Kopf

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IL21R
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    miRNA
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    hsa-mir-148b-3p (MIRT019448), hsa-mir-335-5p (MIRT018475), hsa-mir-7-5p (MIRT025813)

    Block miRNA regulation of human, mouse, rat IL21R using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IL21R (see all 15):
    hsa-miR-140-3p hsa-miR-875-3p hsa-miR-4254 hsa-miR-130a* hsa-miR-23c hsa-miR-548aa hsa-miR-570 hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmidIL21R 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IL21R

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL21R


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IL21R_HUMAN, Q9HBE5: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular2
    cytosol1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane NAS11081504

    Find genes that share ontologies with IL21R           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IL21R About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Th17 Differentiation
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types0.47
    Th17 Differentiation0.47
    2IL-9 Signaling Pathways
    IL-21 Signaling Pathways0.90
    3Cytokine production by Th17 cells in CF
    Cytokine production by Th17 cells in CF Mouse model 0.72
    4PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    5Leishmaniasis
    Inflammatory bowel disease (IBD)0.34


    Find genes that share SuperPaths with IL21R           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 R&D Systems Pathways for IL21R
        IL-21 Signaling Pathways
    IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation


    1 GeneGo (Thomson Reuters) Pathway for IL21R
        Cytokine production by Th17 cells in CF (Mouse model)



    3 Kegg Pathways  (Kegg details for IL21R):
        Cytokine-cytokine receptor interaction
    Jak-STAT signaling pathway
    Inflammatory bowel disease (IBD)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL21R: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IL21R

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for IL21R (Q9HBE53 ENSP000003380104) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL21Q9HBE43, ENSP000002644974I2D: score=2 STRING: ENSP00000264497
    IL2P605683, ENSP000002267304I2D: score=1 STRING: ENSP00000226730
    JAK1P234583, ENSP000003432044I2D: score=3 STRING: ENSP00000343204
    CBLENSP000002640334STRING: ENSP00000264033
    CBLBENSP000002641224STRING: ENSP00000264122
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030101natural killer cell activation NAS11081504
    GO:0038114interleukin-21-mediated signaling pathway NAS11081504

    Find genes that share ontologies with IL21R           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IL21R



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IL21R gene (3 alternative transcripts): 
    NM_021798.3  NM_181078.2  NM_181079.4  

    Unigene Cluster for IL21R:

    Interleukin 21 receptor
    Hs.210546  [show with all ESTs]
    Unigene Representative Sequence: NM_181079
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337929(uc002dor.2 uc002doq.2) ENST00000564089 ENST00000395754
    ENST00000561953 ENST00000564583 ENST00000395755(uc002dos.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat IL21R using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IL21R (see all 15):
    hsa-miR-140-3p hsa-miR-875-3p hsa-miR-4254 hsa-miR-130a* hsa-miR-23c hsa-miR-548aa hsa-miR-570 hsa-miR-4261
    SwitchGear 3'UTR luciferase reporter plasmidIL21R 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat IL21R
      QuantiFast Probe-based Assays in human, mouse, rat IL21R

    Additional mRNA sequence: 

    AF254067.1 AF269133.1 AK292663.1 AK312825.1 AY358826.1 BC004348.1 BC007946.2 

    7 DOTS entries:

    DT.427597  DT.91698043  DT.100778313  DT.40297197  DT.40126445  DT.438858  DT.100690154 

    Selected AceView cDNA sequences (see all 50):

    BC007946 AA689310 AW629191 BQ018238 AW576566 NM_181079 AF254067 BE269215 
    NM_021798 BX280799 BC004348 NM_181078 BQ215949 AW504569 AI308959 AA897200 
    CA433219 AW469887 BF797852 AA827947 AI826233 BE514271 AW575528 AF269133 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IL21R (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
    SP1:                                                              -           -                                       
    SP2:                    -     -     -     -                       -           -                                       
    SP3:                                      -                       -           -                                       
    SP4:                    -     -     -     -                       -           -                                       
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for IL21R

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IL21R expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IL21R Expression
    About this image

    IL21R Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IL21R Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.210546

    UniProtKB/Swiss-Prot: IL21R_HUMAN, Q9HBE5
    Tissue specificity: Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IL21R: 
              Interferons & Receptors in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for IL21R
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    QuantiFast Probe-based Assays in human, mouse, rat IL21R
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL21R

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IL21R gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Il21r1 , 5 interleukin 21 receptor1, 5 73.52(n)1
    64.76(a)1
      7 (68.98 cM)5
    605041  NM_021887.21  NP_068687.11 
     1256034295 
    chicken
    (Gallus gallus)
    Aves IL21R1 interleukin 21 receptor 50.88(n)
    38.53(a)
      416586  NM_001030640.1  NP_001025811.1 
    lizard
    (Anolis carolinensis)
    Reptilia IL21R6
    interleukin 21 receptor
    28(a)
    1 ↔ 1
    GL343612.1(190696-201302)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia il21r1 interleukin 21 receptor 44.49(n)
    34.09(a)
      100492452  XM_002938413.2  XP_002938459.2 
    zebrafish
    (Danio rerio)
    Actinopterygii il21r1 interleukin 21 receptor 40.87(n)
    29.64(a)
      100134976  NM_001113510.1  NP_001106982.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IL21R (see all 1259)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0698994
    IL21R immunodeficiency (IL21RID)4--see VAR_0698992 R L mis40--------
    rs106823341,2
    C--25509358(+) GAAAACAT/-CATGT 2 -- cds11Minor allele frequency- -:0.00CSA 2
    rs350561521,2
    C--25509361(+) AACAT-/CATGTTTT 2 -- cds10--------
    rs1135344481,2
    C--25517402(+) GCCTATTGC/-  
            
    ATAAT
    2 -- int11Minor allele frequency- -:0.00CSA 2
    rs1841472941,2
    --25517817(+) TTTATG/TTTATT 2 -- int10--------
    rs30932881,2
    C,F--25526844(+) AAAAAA/-TCTCA 3 -- int1 us2k1 trp34Minor allele frequency- -:0.08NS NA 96
    rs30932931,2
    C,F--25527944(+) CTCAC-/AAGAAGCC 3 -- cds12Minor allele frequency- AAG:0.40NS 94
    rs342795841,2
    C--25527945(+) TCACA-/A/AAG 
            
    AGCCT
    6 -- int1 cds10--------
    rs350563141,2
    C--25527947(+) ACAAG-/A/    
       AAG
    /G
    CCTGG
    6 -- int1 cds10--------
    rs1429775241,2
    C--25542002(+) GCACA-/TGTGTGT 3 -- int10--------

    HapMap Linkage Disequilibrium report for IL21R (27413483 - 27463363 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IL21R:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2663164CNV Deletion23128226
    nsv1773CNV Insertion18451855
    nsv833179CNV Loss17160897

    Human Gene Mutation Database (HGMD): IL21R
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IL21R
    DNA2.0 Custom Variant and Variant Library Synthesis for IL21R

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605383   
    OMIM disorders: 147050  615207  
    UniProtKB/Swiss-Prot: IL21R_HUMAN, Q9HBE5
  • 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. 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

  • 2 diseases for IL21R:    
    About MalaCards
    immunodeficiency, primary, autosomal recessive, il21r-related    chronic cholangitis

    1 disease from the University of Copenhagen DISEASES database for IL21R:
    Chronic cholangitis

    Find genes that share disorders with IL21R           About GenesLikeMe

    8 Novoseek inferred disease relationships for IL21R gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 42.9 5 16142394 (2), 19644854 (2), 19774453 (1)
    inflammatory bowel diseases 22 1 19322899 (1)
    rheumatoid arthritis 15.9 4 15146416 (2), 17032244 (1), 17393408 (1)
    genetic susceptibility 15.1 1 17462506 (1)
    necrosis 9.77 1 11986233 (1)
    osteoarthritis 3.78 1 15146416 (1)
    inflammation 0 1 17241869 (1)
    tumors 0 2 11986233 (1), 19608866 (1)

    Genetic Association Database (GAD): IL21R
    Human Genome Epidemiology (HuGE) Navigator: IL21R (12 documents)

    Export disorders for IL21R gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IL21R gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with IL21R)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function. (PubMed id 11081504)1, 2, 3 Parrish-Novak J.... Foster D. (Nature 2000)
    2. A polymorphism within IL21R confers risk for systemic lupus erythematosus. (PubMed id 19644854)1, 4, 9 Webb R....Sawalha A.H. (Arthritis Rheum. 2009)
    3. Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females. (PubMed id 12700598)1, 4, 9 Hecker M....Hackstein H. (Genes Immun. 2003)
    4. Molecular scanning of interleukin-21 gene and genetic susceptibility to type 1 diabetes. (PubMed id 17462506)1, 4, 9 Asano K....Ogihara T. (Hum. Immunol. 2007)
    5. IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. (PubMed id 19874204)1, 4, 9 Guo Y....Deng H.W. (J. Bone Miner. Res. 2010)
    6. IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women. (PubMed id 16867043)1, 4, 9 Guglielmi L....Demoly P. (Allergy 2006)
    7. Cloning of a type I cytokine receptor most related to the IL-2 receptor beta chain. (PubMed id 11016959)1, 2, 9 Ozaki K.... Leonard W.J. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    8. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. (PubMed id 23440042)1, 2 Kotlarz D....Klein C. (J. Exp. Med. 2013)
    9. Crystal structure of interleukin-21 receptor (IL-21R) bound to IL-21 reveals that sugar chain interacting with WSXWS motif is integral part of IL-21R. (PubMed id 22235133)1, 2 Hamming O.J.... Hartmann R. (J. Biol. Chem. 2012)
    10. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50615 HGNC: 6006 AceView: IL21R Ensembl:ENSG00000103522 euGenes: HUgn50615
    ECgene: IL21R Kegg: 50615 H-InvDB: IL21R

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IL21R Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IL21R Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/il21r/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for IL21R gene:
    Search GeneIP for patents involving IL21R

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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