Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants

Mutations of human TBC1D24 are associated with deafness, epilepsy, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, cognitive disability, and seizures). The causal relationships between TBC1D24 variants and the different clinical phenotypes are not understood. Our hypothesis is that phenotypic heterogeneity of missense mutations of TBC1D24 results, in part, from perturbed binding of different protein partners. To discover novel protein partners of TBC1D24, we conducted yeast two-hybrid (Y2H) screen using mouse full-length TBC1D24 as bait. Kidney and brain protein (KIBRA), a scaffold protein encoded by Wwc1, was identified as a partner of TBC1D24. KIBRA functions in the Hippo signaling pathway and is important for human cognition and memory. The TBC1D24 TLDc domain binds to KIBRA full-length and to its C2 domain, confirmed by Y2H assays. No interaction was detected with Y2H assays between the KIBRA C2 domain and TLDc domains of NCOA7, MEAK7..., , This folder contains the data files for the article:

Tona, R., Inagaki, S., Ishibashi, Y., Faridi, R., Yousaf, R., Roux, I., Wilson, E., Fenollar-Ferrer, C., Chien, W.W., Belyantseva, I.A. and Friedman, T.B. (2024). Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants. *Journal of Biological Chemistry*, 300, 107725.\
DOI: 10.1016/j.jbc.2024.107725

This dataset contains previously unpublished data collected by the Laboratory of Molecular Genetics, National Institute on Deafness and Communication Disorders, National Institutes of Health, and associated with published data in Journal of Biological Chemistry (DOI: 10.1016/j.jbc.2024.107725). If you use any of the data in this dataset, please cite the associated publication

**Description of the data**

Yeast two-hybrid (Y2H) assays presented here show our published results are reproducible and verified by a separate source, Hybrigenics Service in France [Link...,