RSPH10B2

Chr 7

radial spoke head 10 homolog B2

NCBI Gene: 728194 ENSG00000169402 UniProt: B2RC85

The protein functions as a component of the axonemal radial spoke complex 3, which regulates dynein motor activity essential for ciliary motility. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory tract, male fertility, and organ lateralization due to defective motile cilia function. The condition follows autosomal recessive inheritance and typically presents in early childhood with recurrent respiratory infections and chronic cough.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Clinical highlights

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

0.60

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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