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IL21 interleukin 21 [ Homo sapiens (human) ]

Gene ID: 59067, updated on 25-Jan-2015
Official Symbol
IL21provided by HGNC
Official Full Name
interleukin 21provided by HGNC
Primary source
HGNC:HGNC:6005
See related
Ensembl:ENSG00000138684; HPRD:05650; MIM:605384; Vega:OTTHUMG00000133073
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]
Orthologs
See IL21 in MapViewer
Location:
4q26-q27
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (122612628..122621057, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123533783..123542212, complement)

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Common variable immunodeficiency 11
MedGen: CN186320 OMIM: 615767 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
NHGRI GWA Catalog
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
NHGRI GWA Catalog
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
    Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
    Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
cytokine receptor binding TAS
Traceable Author Statement
more info
PubMed 
interleukin-2 receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell maturation IDA
Inferred from Direct Assay
more info
PubMed 
immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of B cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of inflammatory response IC
Inferred by Curator
more info
PubMed 
positive regulation of interferon-gamma biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of interleukin-10 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-17 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of natural killer cell cytokine production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tissue remodeling IC
Inferred by Curator
more info
PubMed 
positive regulation of tyrosine phosphorylation of Stat1 protein IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tyrosine phosphorylation of Stat3 protein IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular space NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
interleukin-21
Names
interleukin-21
interleukin-21 isoform

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_031966.1 

    Range
    5001..13430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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)
    AF254069, BC069124, CD559613, DQ645417
    Consensus CDS
    CCDS75189.1
    UniProtKB/Swiss-Prot
    Q9HBE4
    Related
    ENSP00000477555, ENST00000611104
    Conserved Domains (1) summary
    pfam02372
    Location:42146
    IL15; Interleukin 15
  2. NM_021803.3NP_068575.1  interleukin-21 isoform 1 precursor

    See proteins identical to NP_068575.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF254069, BC069124
    Consensus CDS
    CCDS3727.1
    UniProtKB/Swiss-Prot
    Q9HBE4
    Related
    ENSP00000264497, OTTHUMP00000164088, ENST00000264497, OTTHUMT00000256713
    Conserved Domains (1) summary
    pfam02372
    Location:42148
    IL15; Interleukin 15

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    122612628..122621057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    123510250..123518679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    119260228..119268550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)