TMEM107

Cilia effects upon perturbation of TMEM107

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.64) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.65) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=111, lfc=-2.47) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Meckel syndrome; leukoencephalopathy with calcifications and cysts; Meckel syndrome 13

Ciliopathy associations

• Joubert Syndrome
• Meckel-Gruber Syndrome
• Orofaciodigital Syndrome

References: PMID:26595381, PMID:26123494, PMID:26518474, PMID:35361766, PMID:38158857

Subcellular localization

basal body, cilia, lysosomes

References: PMID:26518474, PMID:26595381, PMID:28954202, PMID:22698544, PMID:31887266

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Transition zone

Function

Critical regulator of cilia formation and morphology (26518474). Controls ciliary proteincomposition. Functions redundantly with NPHP4 to regulate cilium integrity, transition zone docking and assembly of membrane to microtubule Y- link connectors. Recruits ciliopathy proteins MKS1, TMEM231 and TMEM237. Mutated in OFD and JBTS patients (26595381). In mice, mutations decrease cilia number and disrupt Hh signaling. Essential for craniofacial development (28954202). Acts synergistically with Gli2 as a positive mediator of Shh and ciliogenesis (22698544). Loss of Tmem107 results in disruption in early L- R patterning events at the node (31887266).