IL21R

Chr 16

interleukin 21 receptor

Also known as: CD360, IMD56, NILR

NCBI Gene: 50615 ENSG00000103522 UniProt: Q9HBE5

The IL21R protein is a cytokine receptor that forms a complex with the common gamma-chain to transduce IL-21 signaling, which is essential for T cell, B cell, and natural killer cell proliferation and differentiation. Mutations cause autosomal recessive immunodeficiency 56, a primary immunodeficiency affecting adaptive immune responses. This gene is highly constrained against loss-of-function variants (pLI = 0.998, LOEUF = 0.205), indicating that complete loss of IL21R function is likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 56

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency disease · ARDefinitivesufficient evidence for diagnostic panels

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

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P/LP missense

0.20

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

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