TNR
tenascin R
- Ensembl:
- ENSG00000116147
- OMIM:
- 601995
Cilia effects upon perturbation of TNR
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.20) PMID:26167766
- Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.47) PMID:20393562
Phenotypes
- Mouse phenotype:
- abnormal circulating phosphate level; abnormal locomotor activation; increased spleen weight
Ciliopathy associations
- Juvenile Myoclonic Epilepsy
Subcellular localization
Ciliary associated gene
Functional category
- Motile cilium & axoneme
Function
Mutations in TNR cause Juvenile Myoclonic Epilepsy (PMID: 39616287).