RTTN

Cilia effects upon perturbation of RTTN

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
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.09) PMID:41160700

Phenotypes

Mouse phenotype:

small heart, abnormal spleen morphology, abnormal stomach morphology, preweaning lethality, complete penetrance, enlarged uriry bladder, embryonic growth retardation, abnormal embryo size, abnormal skin morphology, decreased bone mineral content, pretal lethality prior to heart atrial septation

Human ciliopathy phenotype:

Bilateral generalized polymicrogyria with microcephalic primordial dwarfism and lateral ventricle dilatation (RTTN; Kheradmand Kia et al. 2012).

Ciliopathy associations

• Polymicrogyria

References: PMID:22939636

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:22939636, PMID:28811500, PMID:30879067, PMID:29967526

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Regulates early embryonic axial rotation, anteroposterior and dorsoventral patterning in mice and is required for maintenance of a normal ciliary structure (22939636). Required for assembly of full-length centrioles through its STIL- RTTN interaction, it also serves as an upstream effector of CEP295 (28811500). Centrosomal protein possibly involved in centriolar elongation and ciliogenesis. Mutations cause polymicrogyria (30879067) and missense or splicing variants have been found in patients with microcephaly (29967526).