IL-2RG

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.

Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).

Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative

XSCID

A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

None

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

X-linked combined immunodeficiency

XCID

Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.

None

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

Belongs to the type I cytokine receptor family. Type 5 subfamily.

• Cell membrane
• Single-pass type I membrane protein
• Cell surface

CD132, Cytokine receptor common subunit gamma, Interleukin-2 receptor subunit gamma, gammaC, p64, IL-2 receptor subunit gamma, IL-2R subunit gamma, IL-2RG, IL2RG

• entrezGene:3561
• omim:308380
• swissprot:P31785

Proteins

Immunology & Infectious Disease

42287Da