IL2RB Chromosome 22

Interleukin 2 receptor subunit beta
20 variants 20 Health Risk

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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
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
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