VANGL2

Cilia effects upon perturbation of VANGL2

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• 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
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=657, lfc=0.95) PMID:30270045

Phenotypes

Mouse phenotype:

decreased circulating hdl cholesterol level, kinked tail, preweaning lethality, complete penetrance, decreased circulating cholesterol level, exencephaly, abnormal tail movements, embryonic growth retardation, abnormal placenta morphology, abnormal tail morphology, abnormal craniofacial morphology, curly tail, cleft palate, increased circulating glucose level, abnormal snout morphology, decreased circulating phosphate level

Mouse ciliopathy phenotype:

abnormal head shape, abnormal reti morphology, persistence of hyaloid vascular system, microphthalmia

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Neurogenesis & migration
• Signaling (Hedgehog, GPCRs, ion channels)
• Axon guidance & growth

Function

Pla r cell polarity protein, equired for Kupffer's vesicle function and establishment of asymmetry. Interacts with BBS8 to establish and maintain the left鈥搑ight asymmetry during early embryogenesis in zebrafish. Required for nuclear positioning, centrosome migration and regulation of the number and length of cilia (20643117). Cooperates with cofilin to target Rab11+ vesicles containing pla r pla r cell polarity proteins to the apical membrane (23406901). Interacts with Arl13b to regulate cilia and photoreceptor outer segment length in Zebrafish. Mutations cause neural tube defects (27571019).

Model organism evidence