IL21R

Domain

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

The box 1 motif is required for JAK interaction and/or activation.

Function

This is a receptor for interleukin-21.

Involvement in disease

Immunodeficiency 56

IMD56

An autosomal recessive primary immunodeficiency 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Chromosomal aberrations involving IL21R is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;16)(q27;p11), with BCL6.

Post-translational modifications

C-mannosylated at Trp-214 in the WSXWS motif, the sugar chain makes extensive hydrogen bonds with Asn-73 sugar, and bridges the two fibronectin domains transforming the V-shaped receptor into an A-frame.

Sequence Similarities

Belongs to the type I cytokine receptor family. Type 4 subfamily.

Tissue Specificity

Selectively expressed in lymphoid tissues. Most highly expressed in thymus and spleen.

Cellular localization

• Membrane
• Single-pass type I membrane protein

Alternative names

CD360, NILR, UNQ3121/PRO10273, IL21R, Interleukin-21 receptor, IL-21 receptor, IL-21R, Novel interleukin receptor

Database links

swissprot:Q9HBE5 omim:605383 entrezGene:50615

Other research areas

• Immuno-oncology