TMEM80
transmembrane protein 80
- Ensembl:
- ENSG00000177042
- UniProt:
- Q96HE8
- OMIM:
- 620248
- Synonyms:
- FLJ38216
Cilia effects upon perturbation of TMEM80
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.66) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Subcellular localization
transition zone
Functional category
- Ciliary assembly/disassembly
- Transition zone
Function
Repertoire of MKS module-associated proteins—mammalian Tmem80—and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional TZ(PMID: 26982032).
Model organism evidence
Mus musculus (1 reference)
TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis.
PMIDs: 38261656
Danio rerio (3 references)
TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis.
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.
C. elegans (1 reference)
Ciliopathies are inherited disorders caused by defects in motile and non-motile (primary) cilia.
PMIDs: 33234550