IL2RB

Chr 22

interleukin 2 receptor subunit beta

NCBI Gene: 3560 ENSG00000100385 UniProt: P14784

This gene encodes the beta subunit of the interleukin-2 receptor, which transduces mitogenic signals from IL-2 and mediates receptor-mediated endocytosis in T cell-mediated immune responses. Biallelic mutations cause autosomal recessive immunodeficiency 63 with lymphoproliferation and autoimmunity. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.496), reflecting its important role in immune system function.

ResearchSummary from RefSeq, OMIM, UniProt

Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770, PubMed:31040185)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 63 with lymphoproliferation and autoimmunity

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency 63 with lymphoproliferation and autoimmunity · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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