IL17RA

Chr 22

interleukin 17 receptor A

Also known as: CANDF5, CD217, CDw217, IL-17RA, IL17R, IMD51, hIL-17R

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 51
1
Active trials
47
Pubs (1 yr)
P/LP submissions
P/LP missense
0.63
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.000
Z-score 3.08
OE 0.38 (0.240.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.79Z-score
OE missense 1.10 (1.021.18)
562 obs / 511.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.240.63)
00.351.4
Missense OE?1.10 (1.021.18)
00.61.4
Synonymous OE?1.16
01.21.6
LoF obs/exp: 11 / 28.8Missense obs/exp: 562 / 511.4Syn Z: -1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IL17RA · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.