SEPTIN2

Cilia effects upon perturbation of SEPTIN2

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Longer cilia

Phenotypes

Mouse phenotype:

decreased prepulse inhibition, increased monocyte cell number, preweaning lethality, complete penetrance

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:20558667, PMID:24317785, PMID:23572511

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Component of a diffusion barrier at the ciliary base, essential for retaining receptor-signaling pathways in the primary cilium, and is required for cilium-dependent Shh signal transduction. Depletion inhibits ciliogenesis (20558667). Ciliary localisation of SEPT2, suggest that it is involved in organization of the axonemal microtubular structure, controling ciliogenesis and ciliary length (24317785). Forms a complex with SEPT7 and SEPT9 to positively control ciliogenesis and the length of cilia (23572511).