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IL21 interleukin 21 [ Homo sapiens (human) ]

Gene ID: 59067, updated on 20-Jun-2021

Summary

Official Symbol
IL21provided by HGNC
Official Full Name
interleukin 21provided by HGNC
Primary source
HGNC:HGNC:6005
See related
Ensembl:ENSG00000138684 MIM:605384
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
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Genomic context

See IL21 in Genome Data Viewer
Location:
4q27
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (122610108..122621066, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123531263..123542221, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene adenosine deaminase domain containing 1 Neighboring gene interleukin 2 Neighboring gene IL21 antisense RNA 1 Neighboring gene Bardet-Biedl syndrome 12 Neighboring gene DNA damage regulated autophagy modulator 1 pseudogene Neighboring gene centrin 4, pseudogene

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
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
GeneReviews: Not available
Common variable immunodeficiency 11
MedGen: C4014258 OMIM: 615767 GeneReviews: Not available
Compare labs
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
GeneReviews: Not available
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
Newly identified genetic risk variants for celiac disease related to the immune response.
GeneReviews: Not available

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
involved_in interleukin-21-mediated signaling pathway TAS
Traceable Author Statement
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 interferon-gamma production NAS
Non-traceable Author Statement
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
PubMed 
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 
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 

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_031966.2 RefSeqGene

    Range
    5001..15959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1263

mRNA and Protein(s)

  1. NM_001207006.3NP_001193935.1  interleukin-21 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001193935.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) retains an intron compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC053545, AF254069, BC069124, CD559613, DQ645417
    Consensus CDS
    CCDS75189.1
    UniProtKB/Swiss-Prot
    Q9HBE4
    Related
    ENSP00000477555.1, ENST00000611104.2
  2. NM_021803.4NP_068575.1  interleukin-21 isoform 1 precursor

    See identical proteins and their annotated locations for NP_068575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC053545, AF254069, BC069124, LC133256
    Consensus CDS
    CCDS3727.1
    UniProtKB/Swiss-Prot
    Q9HBE4
    UniProtKB/TrEMBL
    A0A224B028
    Related
    ENSP00000497915.1, ENST00000648588.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    122610108..122621066 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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