TMEM72

Cilia effects upon perturbation of TMEM72

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased grip strength; abnormal coat/hair pigmentation; decreased blood urea nitrogen level; decreased bone mineral density; increased hematocrit; increased lean body mass; increased startle reflex; increased erythrocyte cell number; increased hemoglobin content; decreased total body fat amount; increased circulating phosphate level

Ciliopathy associations

• Nephronophthisis

Subcellular localization

cilia, transition zone

Function

Immunohistochemistry staining of kidney biopsies revealed altered localization and expression of TMEM72 in cases compared to controls. In human-derived tubuloids, we showed that TMEM72 localizes to the cilium. Furthermore, using an affinity proteomics approach, we found an association of TMEM72 and ciliary function, more specifically in selective ciliary cholesterol transport(41308066).