IL21R Chromosome 16

Interleukin 21 receptor
19 variants 19 Health Risk

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What This Gene Does
The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"CD molecules|Interleukin receptors"
Locus Type
gene with protein product
Location
16p12.1
Ensembl
ENSG00000103522
Associated Conditions (6)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
IgE responsiveness
atopic
IL21R-related disorder
Inborn genetic diseases
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Key Variants
RS117535117
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IgE responsiveness, atopic
Health Risk
RS137946070
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IL21R-related disorder, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS144751116
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS201496200
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS2087444941
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS3093370
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS371659579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
Health Risk
RS52822694
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, IgE responsiveness
Health Risk
RS56148525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IgE responsiveness
Health Risk
RS573484984
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS748354630
Conflicting classifications of pathogenicity
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
RS2087297703
Likely pathogenic
Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
Health Risk
All Variants (19)
RSID Category Clinical Significance Conditions
RS117535117 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IgE responsiveness, atopic
RS137946070 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IL21R-related disorder, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS144751116 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS201496200 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2087444941 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS3093370 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS371659579 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
RS52822694 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, IgE responsiveness
RS56148525 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IgE responsiveness
RS573484984 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS748354630 Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2087297703 Health Risk Likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2141318549 Health Risk Likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2543384162 Health Risk Likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2141306468 Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2141313155 Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2543346495 Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS397514685 Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS886037632 Health Risk Pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
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