IL2RG Chromosome X
Interleukin 2 receptor subunit gamma
Upload your DNA to see your personal genotypes for variants in IL2RG.
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 |
|---|---|---|---|
| RS1015272346 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, IL2RG-related disorder |
| RS1389116834 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency |
| RS200239526 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS2092261278 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147749578 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647963 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS370007902 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS374102717 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS375921454 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS751455361 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS758693125 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS760735556 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, Inborn genetic diseases, X-linked severe combined immunodeficiency |
| RS768291371 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS775704953 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, IL2RG-related disorder |
| RS7885041 | Health Risk | Conflicting classifications of pathogenicity | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1057520293 | Health Risk | Likely pathogenic | — |
| RS1057521062 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1064794027 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1064794631 | Health Risk | Likely pathogenic | — |
| RS111033618 | Health Risk | Likely pathogenic | Combined immunodeficiency, X-linked, Inborn genetic diseases |
| RS111033621 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS141707292 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556330755 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1556331272 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1569479994 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1569480082 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS193922349 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092255386 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092258151 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2092260648 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261313 | Health Risk | Likely pathogenic | Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency |
| RS2092262517 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147748189 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750291 | Health Risk | Likely pathogenic | — |
| RS2147750359 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750927 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751146 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751859 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, Combined immunodeficiency, X-linked |
| RS2519645527 | Health Risk | Likely pathogenic | — |
| RS2519645536 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519645541 | Health Risk | Likely pathogenic | — |
| RS2519645571 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519645580 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646609 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646646 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646713 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646723 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646730 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647063 | Health Risk | Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647255 | Health Risk | Likely pathogenic | See cases, See cases |