Gene: IL21R

Alternate names for this Gene: CD360|IMD56|NILR

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.1

Description of this Gene: interleukin 21 receptor

Type of Gene: protein-coding

rs397514685 in IL21R gene and IMMUNODEFICIENCY 56 PMID 23440042 2013 Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.

rs2189521 in IL21R gene and Primary biliary cirrhosis PMID 28425483 2017 A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.