RFX2

Cilia effects upon perturbation of RFX2

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

Subcellular localization

basal body, cilia, nucleus

References: PMID:41410385, PMID:41005307, PMID:20381594, PMID:24424412, PMID:22227339

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Reproduction & sperm
• Transition zone
• ECM & connective tissue

Function

Involved in regulation of ALMS1 in vivo, by binding its promoter (20381594). Coordinates multiple, distinct gene expression programs in MCCs, regulating genes encoding axonemal dynein subunits, components of the transition zone anb BBSome, centriolar genes and planar cell polarity (PCP) effector fritz/wdpcp. It also regulates the extracellular matrix component dag1, which is a regulator of MCC insertion (24424412). Critical regulator of vertebrate ciliogenesis. Knockdown results in phenotypes associated with defective cilia, such as disruption of neural tube closure and left–right asymmetry (22227339).