IL2RA Chromosome 10

Interleukin 2 receptor subunit alpha
28 variants 28 Health Risk

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What This Gene Does
The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
"CD molecules|Interleukin receptors|Sushi domain containing"
Locus Type
gene with protein product
Location
10p15.1
Ensembl
ENSG00000134460
Associated Conditions (4)
Immunodeficiency due to CD25 deficiency
Type 1 diabetes mellitus 10
IL2RA-related disorder
Malignant tumor of esophagus
Key Variants
RS1034684102
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS139266750
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS145428184
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS201675947
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS2132853580
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS41295061
Conflicting classifications of pathogenicity
Type 1 diabetes mellitus 10, IL2RA-related disorder, Type 1 diabetes mellitus 10
Health Risk
RS536344946
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS539966138
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS554680869
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS72650666
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, IL2RA-related disorder, Immunodeficiency due to CD25 deficiency
Health Risk
RS74162093
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
Health Risk
RS74162097
Conflicting classifications of pathogenicity
Immunodeficiency due to CD25 deficiency, Malignant tumor of esophagus, Immunodeficiency due to CD25 deficiency
Health Risk
All Variants (28)
RSID Category Clinical Significance Conditions
RS1034684102 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS139266750 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS145428184 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS201675947 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2132853580 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS41295061 Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 10, IL2RA-related disorder, Type 1 diabetes mellitus 10
RS536344946 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS539966138 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS554680869 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS72650666 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, IL2RA-related disorder, Immunodeficiency due to CD25 deficiency
RS74162093 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS74162097 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Malignant tumor of esophagus, Immunodeficiency due to CD25 deficiency
RS748515506 Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 10, Immunodeficiency due to CD25 deficiency, Type 1 diabetes mellitus 10
RS750468923 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS763613912 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS773957702 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS929482812 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS1250584991 Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2132853537 Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2539643473 Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS1554829311 Health Risk Pathogenic
RS2539649661 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS774803573 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS796051887 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS796051888 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041032 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041037 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS886041038 Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
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