IL2RB Chromosome 22
Interleukin 2 receptor subunit beta
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What This Gene Does
The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"CD molecules|Interleukin receptors"
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100385
Associated Conditions (3)
IL2RB-related disorder
Ichthyosis
Immunodeficiency 63 with lymphoproliferation and autoimmunity
Key Variants
RS143330463
Conflicting classifications of pathogenicity
IL2RB-related disorder, IL2RB-related disorder
Health Risk
RS146173891
Conflicting classifications of pathogenicity
Health Risk
RS149258462
Conflicting classifications of pathogenicity
IL2RB-related disorder, IL2RB-related disorder
Health Risk
RS541405891
Conflicting classifications of pathogenicity
Health Risk
RS748309662
Conflicting classifications of pathogenicity
Health Risk
RS751144068
Conflicting classifications of pathogenicity
Health Risk
RS769877535
Conflicting classifications of pathogenicity
Health Risk
RS1428720238
Likely pathogenic
Health Risk
RS1922018671
Likely pathogenic
Health Risk
RS2517835875
Likely pathogenic
Health Risk
RS2517835887
Likely pathogenic
Health Risk
RS2517844908
Likely pathogenic
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143330463 | Health Risk | Conflicting classifications of pathogenicity | IL2RB-related disorder, IL2RB-related disorder |
| RS146173891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149258462 | Health Risk | Conflicting classifications of pathogenicity | IL2RB-related disorder, IL2RB-related disorder |
| RS541405891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748309662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751144068 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769877535 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1428720238 | Health Risk | Likely pathogenic | — |
| RS1922018671 | Health Risk | Likely pathogenic | — |
| RS2517835875 | Health Risk | Likely pathogenic | — |
| RS2517835887 | Health Risk | Likely pathogenic | — |
| RS2517844908 | Health Risk | Likely pathogenic | — |
| RS747978443 | Health Risk | Likely pathogenic | — |
| RS1569044747 | Health Risk | Pathogenic | Ichthyosis, Ichthyosis |
| RS1921773433 | Health Risk | Pathogenic | — |
| RS1922072844 | Health Risk | Pathogenic | Immunodeficiency 63 with lymphoproliferation and autoimmunity, Immunodeficiency 63 with lymphoproliferation and autoimmunity |
| RS2517838673 | Health Risk | Pathogenic | — |
| RS2517845076 | Health Risk | Pathogenic | — |
| RS758275711 | Health Risk | Pathogenic | — |
| RS934523851 | Health Risk | Pathogenic | Immunodeficiency 63 with lymphoproliferation and autoimmunity, Immunodeficiency 63 with lymphoproliferation and autoimmunity |