IRAK3

Chr 12

interleukin 1 receptor associated kinase 3

Also known as: ASRT5, IRAKM

This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAsthma-related traits 5
0
Active trials
30
Pubs (1 yr)
P/LP submissions
P/LP missense
1.55
LOEUF
GOF
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?
1.55LOEUF
pLI 0.000
Z-score -0.64
OE 1.14 (0.851.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.921.11)
315 obs / 311.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.14 (0.851.55)
00.351.4
Missense OE?1.01 (0.921.11)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 29 / 25.5Missense obs/exp: 315 / 311.3Syn Z: 0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IRAK3 · 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.

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