Interleukin-2 receptor subunit β | IL-2 receptor family | IUPHAR Guide to IMMUNOPHARMACOLOGY

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Interleukin-2 receptor subunit β

  Target has curated data in GtoImmuPdb

Target id: 1696

Nomenclature: Interleukin-2 receptor subunit β

Family: IL-2 receptor family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Quaternary Structure: Complexes
Interleukin-2 receptor
Interleukin-15 receptor
Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 1 551 22q12.3 IL2RB interleukin 2 receptor subunit beta
Mouse 1 539 Il2rb interleukin 2 receptor, beta chain
Rat 1 537 Il2rb interleukin 2 receptor subunit beta
Previous and Unofficial Names
CD122 | IL15RB | interleukin 15 receptor, beta | IL-2R subunit beta | high affinity IL-2 receptor subunit beta | IL-15 receptor beta chain | IL-2/15Rbeta | interleukin 2 receptor
Database Links
CATH/Gene3D
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Immunopharmacology Comments
IL2RB is a ligand binding component of the IL-2R and is required to elevate ligand affinity. It also a component of the IL-15R.
Immuno Process Associations
Immuno Process:  Cytokine production & signalling
GO Annotations:  Associated to 5 GO processes
GO:0004911 interleukin-2 receptor activity IDA
GO:0019221 cytokine-mediated signaling pathway IDA
GO:0035723 interleukin-15-mediated signaling pathway IMP
GO:0038110 interleukin-2-mediated signaling pathway TAS
GO:0042010 interleukin-15 receptor activity IDA
Immuno Process:  Inflammation
GO Annotations:  Associated to 1 GO processes
GO:0050766 positive regulation of phagocytosis IMP
Biologically Significant Variants
Type:  Missense mutation
Species:  Human
Description:  A homozygous missense mutation that decreases IL2Rβ response to IL-2, likely due to disruption of the receptor/ligand interaction site. This mutant allele was identified in a kindred of Saudi Arabian origin.
Amino acid change:  Ser40Leu
References:  2
Type:  Truncation
Species:  Human
Description:  A mutation that introduces a premature stop codon which severly truncates the IL2Rβ protein and results in complete loss of expression of functional receptor, and subsequently no IL-2 signalling. This mutant allele was identified in a kindred of Romany origin. It is associated with a severe phenotype including failure of fetal development, perinatal death and fetal loss in utero.
Amino acid change:  Gln96STOP
References:  2
Type:  Missense mutation
Species:  Human
Description:  A homozygous missense mutation that causes nascent IL2Rβ protein to be sequestered in the endoplasmic reticulum and results in loss of receptor expression at the cell membrane. This mutant allele was identified in two separate kindreds of Pakistani and south Asian origin. Phenotypically the homozygotes with this variant exhibit reduced T cell function, but retain some NK cell-responsiveness to IL-2.
Amino acid change:  Leu77Pro
References:  2
Type:  In-frame deletion
Species:  Human
Description:  A homozygous 9-nucleotide in-frame deletion that results in the loss of three amino acids in the highly conserved WSXWS extracellular motif of IL2Rβ. The WSXWS motif affects receptor protein folding, trafficking, binding and signalling. The homozygous individuals have reduced expression of functional IL2Rβ and dysregulated IL-2/15 signalling. This causes a severe primary immune deficiency that is characterised by reduced circulating Treg cells and a higher than normal frequency of immature NK cells. This mutation was identified in two infant siblings of consanguineous parents from Tajikistan.
Amino acid change:  Pro222_Gln225del
References:  1
Biologically Significant Variant Comments
Mutations in the human IL2RB gene have been identified as causing life-threatening immune dysregulation in a number of patients. In two independent studies (both published in the same 2019 issue of the Journal of Experimental Medicine), several loss-of-function mutations were discovered in patients suffering from primary immune deficiency, and which were characterised by a similar constellation of clinical manifestations (including bowel inflammation, dermatological abnormalities, lymphadenopathy, cytomegalovirus viremia, hypergammaglobulinemia and autoantibody production) [1-2].

References

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1. Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J et al.. (2019) A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J. Exp. Med., [Epub ahead of print]. DOI: 10.1084/jem.20182015 [PMID:31040184]

2. Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W et al.. (2019) Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance. J. Exp. Med., [Epub ahead of print]. [PMID:31040185]

How to cite this page

IL-2 receptor family: Interleukin-2 receptor subunit β. Last modified on 08/05/2019. Accessed on 21/07/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetoimmunopharmacology.org/GRAC/ObjectDisplayForward?objectId=1696.