IL17RA Chromosome 22
Interleukin 17 receptor A
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What This Gene Does
Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"CD molecules|Interleukin receptors"
Locus Type
gene with protein product
Location
22q11.1
Ensembl
ENSG00000177663
Associated Conditions (6)
Immunodeficiency 51
IL17RA-related disorder
Familial cancer of breast
See cases
Chronic mucocutaneous candidiasis
Psoriasis
Key Variants
RS113571926
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS139412425
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS140221307
Conflicting classifications of pathogenicity
Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
Health Risk
RS142199303
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS143008696
Conflicting classifications of pathogenicity
Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
Health Risk
RS143239201
Conflicting classifications of pathogenicity
Immunodeficiency 51, IL17RA-related disorder, Familial cancer of breast
Health Risk
RS143897670
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS144085995
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS145378071
Conflicting classifications of pathogenicity
Immunodeficiency 51, See cases, Immunodeficiency 51
Health Risk
RS146478431
Conflicting classifications of pathogenicity
Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
Health Risk
RS148692192
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
RS151166583
Conflicting classifications of pathogenicity
Immunodeficiency 51, Immunodeficiency 51
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518745 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1057518746 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1057518747 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1057519079 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1321690789 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1330723939 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS1601340933 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS2061394463 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS2123798029 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS2517158918 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS2517164580 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS387906913 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS753878546 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |
| RS778624945 | Health Risk | Pathogenic | Immunodeficiency 51, Immunodeficiency 51 |