Alt. symbols: CD360

Approved name: interleukin 21 receptor
Alt. names: interleukin21 receptor | IL21 receptor | novel interleukin receptor

Location: 16p12.1: 27402174 - 27452042 (+)
Gene type: protein_coding, 6 transcripts.

Scores: LoFtool: 0.168000 | pLI: 0.84636784 | LOEUF: 0.205

HGNC: 6006

NCBI: 50615, RefSeq: NG_012222.1

Ensembl: ENSG00000103522.17

LRG_731 | Status: public

OMIM: 605383

Expression | ProteinAtlas

This gene encodes a cytokine receptor for interleukin 21 (IL21). IL21R 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 it 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 an orthologous gene in mice suggest a role for this gene in regulating immunoglobulin production.

Biallelic loss-of-function mutations in IL21R cause a primary immunodeficiency (PID) known as Immunodeficiency 56 (IMD56) [MIM:615207]. IMD56 is an autosomal recessive PID characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013). In addition, Hecker et al. (200 3) identified a SNP in the promoter region of the IL21R gene, -83T-C (605383.0001), that was significantly associated with elevated IgE levels in females, but not in males [MIM:147050]. [Load More]