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

Mouse ciliopathy phenotype:

abnormal reti blood vessel morphology, abnormal lens morphology, cataract, persistence of hyaloid vascular system, abnormal reti vasculature morphology

Subcellular localization

basal body, cilia

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-sig ling pathways in the primary cilium, and is required for cilium-dependent Shh sig l 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).

Model organism evidence