RFX2
regulatory factor X2
- Ensembl:
- ENSG00000087903
- UniProt:
- P48378
- OMIM:
- 142765
- Synonyms:
- FLJ14226
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
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). Coordi tes multiple, distinct gene expression programs in MCCs, regulating genes encoding axonemal dynein subunits, components of the transition zone anb BBSome, centriolar genes and pla r 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鈥搑ight asymmetry (22227339).
Model organism evidence
We demonstrate that the depletion of multiple components of the switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex induces ciliopathy-like phenotypes in zebrafish embryos.
PMIDs: 41213452
Foxn3 is required to suppress aberrant ciliogenesis in nonphotoreceptor retinal neurons.
Existence of cilia in the last eukaryotic common ancestor raises a fundamental question in biology: how the transcriptional regulation of ciliogenesis has evolved?
Ciliome gene mutations underlie a group of pleiotropic genetic diseases known as ciliopathies.
PMIDs: 37449480