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IL21R interleukin 21 receptor [ Homo sapiens (human) ]

Gene ID: 50615, updated on 26-May-2016
Official Symbol
IL21Rprovided by HGNC
Official Full Name
interleukin 21 receptorprovided by HGNC
Primary source
HGNC:HGNC:6006
See related
Ensembl:ENSG00000103522 HPRD:05649; MIM:605383; Vega:OTTHUMG00000131675
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
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]
Orthologs
Location:
16p11
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (27402162..27452042)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27413483..27463363)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NSE1 homolog, SMC5-SMC6 complex component Neighboring gene uncharacterized LOC400512 Neighboring gene interleukin 4 receptor Neighboring gene IL21R antisense RNA 1 Neighboring gene general transcription factor IIIC subunit 1 Neighboring gene KIAA0556 Neighboring gene uncharacterized LOC100128079

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ige responsiveness, atopic
MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
Compare labs
IL21R immunodeficiency
MedGen: C3554687 OMIM: 615207 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.
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

Clone Names

  • MGC10967

Gene Ontology Provided by GOA

Function Evidence Code Pubs
interleukin-21 receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
interleukin-21-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
natural killer cell activation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
interleukin-21 receptor
Names
IL-21 receptor
novel interleukin receptor

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_012222.1 RefSeqGene

    Range
    4761..54641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021798.3NP_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
    Q9HBE5
    Related
    ENSP00000379103, OTTHUMP00000255083, ENST00000395754, OTTHUMT00000433720
    Conserved Domains (1) summary
    cd00063
    Location:120225
    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 ...
  2. NM_181078.2NP_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
    Q9HBE5
    Related
    ENSP00000338010, OTTHUMP00000162453, ENST00000337929, OTTHUMT00000254578
    Conserved Domains (1) summary
    cd00063
    Location:120225
    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 ...
  3. NM_181079.4NP_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/Swiss-Prot
    Q9HBE5
    Conserved Domains (1) summary
    cd00063
    Location:142247
    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: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    27402162..27452042
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545857.1XP_011544159.1  

    See identical proteins and their annotated locations for XP_011544159.1

    Conserved Domains (1) summary
    cd00063
    Location:142247
    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 ...
  2. XM_011545858.1XP_011544160.1  

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    28425032..28475081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)