TBC1D32

Cilia effects upon perturbation of TBC1D32

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (2 screens)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.34) PMID:41160700

Phenotypes

Mouse phenotype:

cleft palate, abnormal embryo size, anophthalmia, facial cleft, abnormal body wall morphology, hemorrhage, edema, preweaning lethality, complete penetrance

Mouse ciliopathy phenotype:

polydactyly, abnormal facial morphology

Ciliopathy associations

• Orofaciodigital Syndrome
• RHYNS Syndrome
• Retinal Dystrophy/Degeneration
• Usher Syndrome

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly
• Ciliary membrane

Function

Mutations have been found in patients with a severe ciliopathy phenotype, including autosomal recessive OFD (24285566, 32573025). Interacts with Dzip1l to regulate neural tube patterning and ciliogenesis before the docking of ciliary vesicle to the basal body (29487109). Ciliary gene implicated in SHH sig ling, controls ciliary morphology and Gli2 localisation within the cilium. Required for proper association between the ciliary membrane and axoneme and axonemal shape (20159594).

Model organism evidence