GRK2

Cilia effects upon perturbation of GRK2

Cilia number / % ciliated:

Decrease

Loss-of-function effect:

Decrease

Ciliogenesis screen results (1 screens)

• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.16) PMID:29459680

Ciliopathy associations

• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

References: PMID:33200460, PMID:38647386

Subcellular localization

cilia

References: PMID:21695114, PMID:21659505

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Viral interactions
• Signaling (Hedgehog, GPCRs, ion channels)
• Cardiac & muscle development
• Muscle contraction & physiology

Function

Positive regulation of Sonic Hedgehog signaling, regulating phosphorylation events required for ciliary accumulation and activation of smoothened (21695114 ). Modulates dynamic intracellular trafficking of Smo and contributes to the positive effect of Gas8 on Smo signaling. Modulates microtubule organisation through the phosphorylation of cytoplasmic tubulin or other proteins (21659505). GRK2 homozygous variants cause Jeune ATD/Short-Rib Thoracic Dysplasia. Novel variant with Morgagni hernia phenotype extension. G protein-coupled receptor kinase subfamily involved in ciliary signaling.