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    IL21R interleukin 21 receptor [ Homo sapiens (human) ]

    Gene ID: 50615, updated on 3-Dec-2024

    Summary

    Official Symbol
    IL21Rprovided by HGNC
    Official Full Name
    interleukin 21 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6006
    See related
    Ensembl:ENSG00000103522 MIM:605383; AllianceGenome:HGNC:6006
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NILR; CD360; IMD56
    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 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]
    Expression
    Biased expression in lymph node (RPKM 10.1), appendix (RPKM 5.4) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IL21R in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (27402174..27452042)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (27680921..27730794)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27413495..27463363)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7299 Neighboring gene NSE1 homolog, SMC5-SMC6 complex component Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:27282975-27283523 Neighboring gene NSMCE1 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27324508-27325238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:27335787-27336641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:27338789-27339453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27374892-27375392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27375393-27375893 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10617 Neighboring gene MPRA-validated peak2541 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10618 Neighboring gene interleukin 4 receptor Neighboring gene Sharpr-MPRA regulatory region 7417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27413572-27414114 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:27416784-27417372 and GRCh37_chr16:27417373-27417961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10623 Neighboring gene MPRA-validated peak2542 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27449769-27450714 Neighboring gene uncharacterized LOC124903668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27460829-27461706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10632 Neighboring gene IL21R antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27482643-27483144 Neighboring gene general transcription factor IIIC subunit 1 Neighboring gene MPRA-validated peak2546 silencer Neighboring gene Sharpr-MPRA regulatory regions 5680 and 15498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10634 Neighboring gene katanin interacting protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:27644974-27645660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27648141-27648641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:27652441-27653082 Neighboring gene uncharacterized LOC107984874

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cryptosporidiosis-chronic cholangitis-liver disease syndrome
    MedGen: C3554687 OMIM: 615207 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables interleukin-21 receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in interleukin-21-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in natural killer cell activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    interleukin-21 receptor
    Names
    IL-21 receptor
    novel interleukin receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012222.1 RefSeqGene

      Range
      4773..54641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_731

    mRNA and Protein(s)

    1. NM_021798.4NP_068570.1  interleukin-21 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_068570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate 5' UTR exon, as compared to variant 2. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC002303, AW576566, BC004348, BQ215949
      Consensus CDS
      CCDS10630.1
      UniProtKB/Swiss-Prot
      A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5
      UniProtKB/TrEMBL
      B2R735
      Related
      ENSP00000379103.4, ENST00000395754.4
      Conserved Domains (1) summary
      cd00063
      Location:120225
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. NM_181078.3NP_851564.1  interleukin-21 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_851564.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the dominant isoform (1).
      Source sequence(s)
      AC002303, AK292663, AW576566, BC004348
      Consensus CDS
      CCDS10630.1
      UniProtKB/Swiss-Prot
      A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5
      UniProtKB/TrEMBL
      B2R735
      Related
      ENSP00000338010.3, ENST00000337929.8
      Conserved Domains (1) summary
      cd00063
      Location:120225
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    3. NM_181079.5NP_851565.4  interleukin-21 receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_851565.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon in the 5' region, resulting in an upstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a longer N-terminus.
      Source sequence(s)
      AC002303, AF269133, AK292663, AW576566, BC004348, DB115361
      UniProtKB/TrEMBL
      B2R735
      Conserved Domains (1) summary
      cd00063
      Location:142247
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      27402174..27452042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545857.4XP_011544159.1  interleukin-21 receptor isoform X1

      See identical proteins and their annotated locations for XP_011544159.1

      UniProtKB/TrEMBL
      B2R735
      Conserved Domains (1) summary
      cd00063
      Location:142247
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    2. XM_017023257.3XP_016878746.1  interleukin-21 receptor isoform X2

      UniProtKB/Swiss-Prot
      A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5
      UniProtKB/TrEMBL
      B2R735
      Conserved Domains (1) summary
      cd00063
      Location:120225
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    3. XM_047434180.1XP_047290136.1  interleukin-21 receptor isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      27680921..27730794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380409.1XP_054236384.1  interleukin-21 receptor isoform X2

      UniProtKB/Swiss-Prot
      A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5
      UniProtKB/TrEMBL
      B2R735
    2. XM_054380410.1XP_054236385.1  interleukin-21 receptor isoform X3