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IL2RB

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

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).

Involvement in disease

Immunodeficiency 63 with lymphoproliferation and autoimmunity

IMD63

An autosomal recessive disorder characterized by immune dysregulation resulting in lymphoid proliferation, dermatitis, enteropathy, autoantibodies, hypergammaglobulinemia, and immunodeficiency with recurrent infections. Patients show increased susceptibility to viral infections, particularly cytomegalovirus disease.

None

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

Sequence Similarities

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

Cellular localization

Alternative names

CD122, IL15RB, IL2RB, Interleukin-2 receptor subunit beta, IL-2 receptor subunit beta, IL-2R subunit beta, IL-2RB, High affinity IL-2 receptor subunit beta, Interleukin-15 receptor subunit beta, p70-75, p75

swissprot:P14784 omim:146710 entrezGene:3560

Other research areas