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IL21R interleukin 21 receptor [ Homo sapiens (human) ]

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

Summary

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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
mouse all
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Genomic context

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See IL21R in Genome Data Viewer
Location:
16p12.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (27402174..27452042)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (27680921..27730794)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behcet's disease.
    Title: Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease.
  2. IL-21 (rs2055979 and rs2221903)/IL-21R (rs3093301) Polymorphism and High Levels of IL-21 Are Associated with Rheumatoid Arthritis in Mexican Patients.
    Title: IL-21 (rs2055979 and rs2221903)/IL-21R (rs3093301) Polymorphism and High Levels of IL-21 Are Associated with Rheumatoid Arthritis in Mexican Patients.
  3. Expression of Interleukin-21 and Interleukin-21 receptor in lymphocytes derived from tumor-draining lymph nodes of breast cancer.
    Title: Expression of Interleukin-21 and Interleukin-21 receptor in lymphocytes derived from tumor-draining lymph nodes of breast cancer.
  4. Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
    Title: Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
  5. WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides.
    Title: WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides.
  6. HIV-1 infection and the lack of viral control are associated with greater expression of interleukin-21 receptor on CD8+ T cells.
    Title: HIV-1 infection and the lack of viral control are associated with greater expression of interleukin-21 receptor on CD8+ T cells.
  7. The IL21/IL21R axis reduced the growth and invasion of NSCLC cells via inhibiting Wnt/betacatenin signaling and PDL1 expression. The present results may provide a novel molecular target for NSCLC diagnosis and therapy.
    Title: IL‑21/IL‑21R inhibit tumor growth and invasion in non‑small cell lung cancer cells via suppressing Wnt/β‑catenin signaling and PD‑L1 expression.
  8. IL-21R rs2285452 AA genotype increases the risk of hepatitis B-related hepatocellular carcinoma in Chinese patients.
    Title: Interleukin-21 receptor gene polymorphism is associated with hepatitis B virus-related hepatocellular carcinoma in Chinese patients.
  9. in IL-21R (rs3093390C/T) gene polymorphism, allele frequency of T is statistically different in the hepatitis B virus spontaneous clearance group compared to chronic hepatitis B virus infection cases
    Title: Association between Interleukin-21 and Interleukin-21 receptor gene polymorphisms with susceptibility to chronic hepatitis B virus infection and HBV spontaneous clearance in Iranian population.
  10. Results showed the upregulation of IL-21R in gastric cancer (GC) associated with tumor size and lymphatic metastasis and acted as an independent prognostic factor of a poor survival and recurrence in GC. IL-21R functioned as an oncogenic factor and alleviated the suppressive effects of miR-125a in GC cells.
    Title: IL-21R functions as an oncogenic factor and is regulated by the lncRNA MALAT1/miR-125a-3p axis in gastric cancer.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 immunoglobulin mediated immune response 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

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

NCBI Reference Sequences (RefSeq)

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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_021798.4 → NP_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:120 → 225
    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_181078.3 → NP_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:120 → 225
    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_181079.5 → NP_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:142 → 247
    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_2023_10

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_011545857.4 → XP_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:142 → 247
    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_017023257.3 → XP_016878746.1  interleukin-21 receptor isoform X2

    UniProtKB/Swiss-Prot
    A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5
    UniProtKB/TrEMBL
    B2R735
    Conserved Domains (1) summary
    cd00063
    Location:120 → 225
    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_047434180.1 → XP_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_054380409.1 → XP_054236384.1  interleukin-21 receptor isoform X2

    UniProtKB/Swiss-Prot
    A8K9E8, D3DWF7, Q96HZ1, Q9HB91, Q9HBE5

  2. XM_054380410.1 → XP_054236385.1  interleukin-21 receptor isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HBE5.1 GenPept UniProtKB/Swiss-Prot:Q9HBE5

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