IL21R interleukin 21 receptor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
Title: ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
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.
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.
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.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
Title: Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (51)

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 EBI GWAS CatalogPubMed
IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IL21R_763 (e-PCR)
- UniSTS:277374

SHGC-60659 (e-PCR)
- UniSTS:66722

RH47993 (e-PCR)
- UniSTS:16627

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

NG_012222.1 RefSeqGene

Range

4773..54641

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_731

mRNA and Protein(s)

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 ...
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 ...
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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

27402174..27452042

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
XM_047434180.1 → XP_047290136.1 interleukin-21 receptor isoform X3