IL17RA Chromosome 22

Interleukin 17 receptor A
64 variants 64 Health Risk

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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
All Variants (64)
RSID Category Clinical Significance Conditions
RS113571926 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS139412425 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS140221307 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
RS142199303 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS143008696 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
RS143239201 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder, Familial cancer of breast
RS143897670 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS144085995 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS145378071 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, See cases, Immunodeficiency 51
RS146478431 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
RS148692192 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS151166583 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS201410617 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS2517176017 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS369723943 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS373070776 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS374537654 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS41396346 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS41529049 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS527593084 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS534399492 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS534512644 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS550947413 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS552425210 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS554211497 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS558799480 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS559058243 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS572837622 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS577217331 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder, Immunodeficiency 51
RS746817140 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS754989357 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS755993710 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS763664351 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS767714232 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS770597137 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS774719700 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS775839180 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS776536038 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS778995730 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS781731675 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS886057200 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS990617336 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS201128237 Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2123797291 Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517159112 Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS2517164324 Health Risk Likely pathogenic Chronic mucocutaneous candidiasis, Chronic mucocutaneous candidiasis
RS2517166028 Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS759315432 Health Risk Likely pathogenic Immunodeficiency 51, Immunodeficiency 51
RS761716238 Health Risk Likely pathogenic Psoriasis, Psoriasis
RS1057518744 Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
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