IL2RG Chromosome X
Interleukin 2 receptor subunit gamma
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Interleukin receptors"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000147168
Associated Conditions (11)
X-linked severe combined immunodeficiency
Inborn genetic diseases
IL2RG-related disorder
Combined immunodeficiency
X-linked
See cases
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
SCID with features of gamma chain deficiency
Key Variants
RS1015272346
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, IL2RG-related disorder
Health Risk
RS1389116834
Conflicting classifications of pathogenicity
Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency
Health Risk
RS200239526
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS2092261278
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
Health Risk
RS2147749578
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
Health Risk
RS2519647963
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
Health Risk
RS370007902
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS374102717
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS375921454
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS751455361
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS758693125
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
RS760735556
Conflicting classifications of pathogenicity
X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519647922 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519648777 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2521700282 | Health Risk | Likely pathogenic | — |
| RS879253742 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1057517747 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1057520644 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Combined immunodeficiency, X-linked |
| RS1064793338 | Health Risk | Pathogenic | — |
| RS1064793347 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Combined immunodeficiency, X-linked |
| RS111033617 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Nonpapillary renal cell carcinoma, X-linked severe combined immunodeficiency |
| RS111033619 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033620 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS111033622 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1131691652 | Health Risk | Pathogenic | — |
| RS1282558220 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852507 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852508 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852509 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS137852510 | Health Risk | Pathogenic | Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency |
| RS1556329779 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556329822 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Thyroid cancer, nonmedullary |
| RS1556329954 | Health Risk | Pathogenic | — |
| RS1556330234 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330249 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330286 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330552 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330562 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330568 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330710 | Health Risk | Pathogenic | — |
| RS1556330713 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330940 | Health Risk | Pathogenic | — |
| RS1556330963 | Health Risk | Pathogenic | — |
| RS1569479913 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1569480018 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1569480047 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602288051 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602289183 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602289411 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602289631 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602289649 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1602289943 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS193922347 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS193922348 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS193922350 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092258288 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092260520 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092260728 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261618 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092262300 | Health Risk | Pathogenic | Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency |
| RS2092262555 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147746685 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |