RSPH9

Cilia effects upon perturbation of RSPH9

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.12) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.40) PMID:41160700

Phenotypes

Mouse phenotype:

abnormal behavior, increased thigmotaxis, hyperactivity, preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia, lysosomes

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Cell migration & adhesion

Function

Component of the axonemal radial spoke head. Mutations cause PCD with defects of the central microtubular pair, where altered function of the radial spoke heads causes 9+2 cilia motility to resemble the rotary 9+0 cilia movement (19200523). Essential for ciliary structure and motility in mouse ependymal cilia, deletion causes hydrocephalus. Dysfunction of RSPH9 changes the motion pattern of motile cilia. (32709945). Required for RS head assembly and centrail pair mainte nce in mammalian ependimal cilia (30383886).