SPAG6

Cilia effects upon perturbation of SPAG6

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

• Primary Ciliary Dyskinesia

References: PMID:32124190

Subcellular localization

cilia, nucleus

References: PMID:41410385, PMID:42010243, PMID:12167721, PMID:25333478, PMID:32124190

Functional category

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

Function

Orthologue of Chlamydomonas PF16. Axoneme central apparatus protein, essential for sperm flagellar motility and motility of ependymal cilia, as well as maintenance of the structural integrity of the sperm flagella by serving as a scaffold protein (12167721). Role in ciliogenesis, axoneme orientation, and cell polarity. Spag6-deficient epithelial cells in the brain and trachea lose rotational polarity and Spag6-eficient mice suffer hydrocephalus and are sterile because of sperm motility defects (25333478). Mutated in PCD with male infertility with severe asthenoteratospermia (32124190)