IL5RA

Chr 3

interleukin 5 receptor subunit alpha

Also known as: CD125, CDw125, HSIL5R3, IL5R

The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
20
Pubs (1 yr)
P/LP submissions
P/LP missense
1.05
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.36
OE 0.69 (0.461.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.59Z-score
OE missense 1.11 (1.001.24)
247 obs / 222.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.69 (0.461.05)
00.351.4
Missense OE?1.11 (1.001.24)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 15 / 21.9Missense obs/exp: 247 / 222.1Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IL5RA · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →