Gene Symbol: Tctn2
Description: tectonic family member 2
Alias: 4432405B04Rik, Tect2, tectonic-2
Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al
. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
..Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes, and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects...
Li C, Jensen V, Park K, Kennedy J, Garcia Gonzalo F, Romani M, et al
. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol. 2016;14:e1002416 pubmed publisher
..Together, our findings expand the repertoire of MKS module-associated proteins--including the previously uncharacterised mammalian Tmem80--and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional TZ. ..
Wang C, Li J, Meng Q, Wang B. Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse. Dev Biol. 2017;430:156-165 pubmed publisher
Tctn1, Tctn2, and Tctn3 are membrane proteins that localize at the transition zone of primary cilia. Tctn1 and Tctn2 mutations have been reported in both humans and mice, but Tctn3 mutations have been reported only in humans...
Chih B, Liu P, Chinn Y, Chalouni C, Komuves L, Hass P, et al
. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14:61-72 pubmed publisher
..The complex that we have described is essential for normal cilia function and acts as a diffusion barrier to maintain the cilia membrane as a compartmentalized signalling organelle. ..
Yee L, Garcia Gonzalo F, Bowie R, Li C, Kennedy J, Ashrafi K, et al
. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015;11:e1005627 pubmed publisher
..Thus, we demonstrate that ciliary complexes act in parallel to support ciliary function and suggest that human ciliopathy phenotypes are altered by genetic interactions between different ciliary biochemical complexes. ..