Interleukin 2 Receptor, Gamma

Alternative Names

  • IL2RG
  • Interleukin Receptor, Common Gamma Chain
  • Interleukin Receptor, Gamma-C
  • CD132 Antigen
  • CD132
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OMIM Number

308380

NCBI Gene ID

3561

Uniprot ID

P31785

Length

4,174 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Cytokine receptor common subunit gamma

Molecular Mass

42287 Da

Amino Acid Count

369

Genomic Location

chrX:71,107,403-71,111,576

Gene Map Locus
Xq13.1

Description

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000206.2:c.820_823dupUnited Arab EmiratesNC_000023.11:g.71108630_71108633dupSevere Combined Immunodeficiency, X-LinkedNG_021141.1:g.3156_3159dup; NM_000206.2:c.820_823dup; NP_000197.1:p.Ser275AsnfsTer29
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