TCTN2

Cilia effects upon perturbation of TCTN2

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.13) PMID:29459680

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome; Meckel syndrome; Joubert syndrome and related disorders

Ciliopathy associations

• Joubert Syndrome
• Meckel-Gruber Syndrome

References: PMID:25118024, PMID:21462283, PMID:30286481, PMID:32655147

Subcellular localization

cilia, lysosomes, transition zone

References: PMID:41410385, PMID:41005307, PMID:21725307, PMID:28800946, PMID:29725084, PMID:21565611, PMID:32655147, PMID:29866362

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Ciliary membrane
• Transition zone

Function

Form a complex with Tctn3, Mks1, Tmem216, Tmem67, Cep290, Cc2d2a, B9d1 and Tctn1 to regulate ciliogenesis and ciliary membrane composition (21725307). Mutations disrupts ciliogenesis, Hh signaling (28800946) and neural tube patterning (29725084). Regulator of Shh pathway. Role in selective trafficking of ciliary proteins to cilia, required for ciliogenesis (29725084). Indispensible for ciliogenesis in the neural tube (21565611). Mutations have also been identified as cause of Meckel–Gruber syndrome (32655147).