CSF2RB

Chr 22

colony stimulating factor 2 receptor subunit beta

Also known as: CD131, CDw131, IL3RB, IL5RB, SMDP5, betaGMR

NCBI Gene: 1439 ENSG00000100368 UniProt: P32927

The protein functions as the common beta chain of high-affinity receptors for interleukin-3, interleukin-5, and granulocyte-macrophage colony-stimulating factor, controlling hematopoietic cell production and differentiation through JAK-STAT signaling pathways. Mutations cause autosomal recessive surfactant metabolism dysfunction, pulmonary type 5, presenting as pulmonary alveolar proteinosis. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.44), indicating some intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPulmonary surfactant metabolism dysfunction 5

Clinical highlights

Gene-disease validity (ClinGen)

surfactant metabolism dysfunction, pulmonary, 5 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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