GLIS3

Cilia effects upon perturbation of GLIS3

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Ciliopathy associations

• Neonatal Diabetes and Hypothyroidism Syndrome

References: PMID:19273592, PMID:27148679, PMID:41457180

Subcellular localization

cilia, nucleus

References: PMID:41005307, PMID:17618285, PMID:16715098, PMID:19273592, PMID:19609364

Functional category

• Ciliary assembly/disassembly

Function

Loss of Glis2 function in mice and mutations in GLIS2 have been associated with nephronophthisis (17618285), while genetic alterations in the GLIS3 gene have been linked to a syndrome characterized by neonatal diabetes and congenital hypothyroidism (NDH) (16715098). Dysfunction of Glis3 leads to the development of cystic renal disease, suggesting that Glis3 plays a critical role in maintaining normal renal functions. Glis3 signaling pathway have localization to the primary cilium and interaction with Wwtr1(19273592). Glis3 mutant mice form normal primary cilia, but the percentage of cells with a primary cilium in dilated and cystic renal tubules is reduced (19273592) GLIS3 deficiency does not affect the length of the primary cilium in mice, but mutation of Glis3 in Medaka results in shorter cilia (32693112). Glis3 deficiency also resulted in a medaka mutant with shortened renal cilia and caused polycystic kidney disease (Hashimoto et al. 2009).