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 |
|---|---|---|---|
| RS2147746709 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147746826 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147747293 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Nonpapillary renal cell carcinoma, X-linked severe combined immunodeficiency |
| RS2147747375 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147748109 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147748142 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147748344 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147748363 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147749701 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750252 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750311 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750382 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147750934 | Health Risk | Pathogenic | — |
| RS2147751090 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751144 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751760 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751762 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751877 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147751892 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646504 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519646510 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647139 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647207 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647217 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519647893 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519648050 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519648083 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519648692 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2519648782 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2521700334 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2521700357 | Health Risk | Pathogenic | — |
| RS2521702130 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2521702222 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2521703323 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS587776729 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS775127703 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS869320658 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Combined immunodeficiency, X-linked |
| RS869320659 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, Combined immunodeficiency, X-linked |
| RS869320660 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS886041333 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS886041334 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS886042051 | Health Risk | Pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS1057517950 | Health Risk | Pathogenic/Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS193922346 | Health Risk | Pathogenic/Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2092261347 | Health Risk | Pathogenic/Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS2147747509 | Health Risk | Pathogenic/Likely pathogenic | X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency |
| RS763359860 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency, X-linked, X-linked severe combined immunodeficiency |