IL21 interleukin 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL21provided by HGNC
Official Full Name: interleukin 21provided by HGNC
Primary source: HGNC:HGNC:6005
See related: Ensembl:ENSG00000138684 MIM:605384; AllianceGenome:HGNC:6005
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: Za11; IL-21; CVID11
Summary: This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression: Biased expression in lymph node (RPKM 3.2), testis (RPKM 0.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q27

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (122610108..122621066, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (125914209..125925168, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (123531263..123542221, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Therapeutic potential of interleukin-21 in cancer.
Title: Therapeutic potential of interleukin-21 in cancer.
The role of Interleukin-21 in autoimmune Diseases: Mechanisms, therapeutic Implications, and future directions.
Title: The role of Interleukin-21 in autoimmune Diseases: Mechanisms, therapeutic Implications, and future directions.
IL-21 collaborates with anti-TIGIT to restore NK cell function in chronic HBV infection.
Title: IL-21 collaborates with anti-TIGIT to restore NK cell function in chronic HBV infection.
Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers.
Title: Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers.
Interleukin-21 modulates balance between regulatory T cells and T-helper 17 cells in chronic hepatitis B virus infection.
Title: Interleukin-21 modulates balance between regulatory T cells and T-helper 17 cells in chronic hepatitis B virus infection.
A structural blueprint for interleukin-21 signal modulation.
Title: A structural blueprint for interleukin-21 signal modulation.
Interleukin-21 Influences Glioblastoma Course: Biological Mechanisms and Therapeutic Potential.
Title: Interleukin-21 Influences Glioblastoma Course: Biological Mechanisms and Therapeutic Potential.
Interleukin-21 promotes Type-1 activation and cytotoxicity of CD56[dim]CD16[bright] natural killer cells during kidney allograft antibody-mediated rejection showing a new link between adaptive and innate humoral allo-immunity.
Title: Interleukin-21 promotes Type-1 activation and cytotoxicity of CD56(dim)CD16(bright) natural killer cells during kidney allograft antibody-mediated rejection showing a new link between adaptive and innate humoral allo-immunity.
T Follicular Helper Cells in Tertiary Lymphoid Structure Contribute to Renal Fibrosis by IL-21.
Title: T Follicular Helper Cells in Tertiary Lymphoid Structure Contribute to Renal Fibrosis by IL-21.
Evaluation of plasma IL-21 as a potential biomarker for type 1 diabetes progression.
Title: Evaluation of plasma IL-21 as a potential biomarker for type 1 diabetes progression.

Submit: New GeneRIF Correction See all GeneRIFs (358)

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
IL21-related infantile inflammatory bowel disease MedGen: C5567788 OMIM: 615767 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified genetic risk variants for celiac disease related to the immune response. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 upregulates the expression of IL-21 in CD4+ T cells in a Nef-dependent manner	PubMed
Pr55(Gag)	gag	GAG-specific CD4+ T follicular helper (TFH) cells are detected at significantly higher levels in the lymph nodes compared with those of GP120-specific TFH cells and show preferential secretion of the helper cytokine IL-21	PubMed

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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

D4S1279 (e-PCR)
- UniSTS:58549

NoName (e-PCR)
- UniSTS:480965

G33978 (e-PCR)
- UniSTS:56026

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables cytokine receptor binding	TAS Traceable Author Statement more info	PubMed
enables interleukin-2 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T follicular helper cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to virus	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within defense response to virus	TAS Traceable Author Statement more info	PubMed
involved_in germinal center B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of B cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of immunoglobulin production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inflammatory response	IC Inferred by Curator more info	PubMed
involved_in positive regulation of interleukin-17 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tissue remodeling	IC Inferred by Curator more info	PubMed
involved_in positive regulation of type II interferon production	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: interleukin-21

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.