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    IL21 interleukin 21 [ Homo sapiens (human) ]

    Gene ID: 59067, updated on 5-Mar-2024

    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
    NEW
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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_000004.12Genomic Context describing neighboring genes Neighboring gene adenosine deaminase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21874 Neighboring gene Sharpr-MPRA regulatory region 4201 Neighboring gene interleukin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 Neighboring gene IL21 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21875 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
    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
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog
    Newly identified genetic risk variants for celiac disease related to the immune response.
    EBI GWAS Catalog

    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

    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 

    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_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
      A5J0L4, Q9HBE4
      UniProtKB/TrEMBL
      A0A224B028
      Related
      ENSP00000497915.1, ENST00000648588.1

    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_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      125914209..125925168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)