ZC3H8

Cilia effects upon perturbation of ZC3H8

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=164, lfc=-1.54) PMID:30270045

Phenotypes

Mouse phenotype:

abnormal skin morphology; lordosis; enlarged spleen; embryonic lethality prior to tooth bud stage; decreased CD8-positive; naive alpha-beta T cell number; preweaning lethality; complete penetrance; abnormal digit morphology; embryonic lethality prior to organogenesis; increased circulating total protein level; enlarged liver; abnormal spleen morphology

Mouse ciliopathy phenotype:

abnormal heart morphology; enlarged kidney; single kidney; enlarged heart; abnormal liver morphology; abnormal kidney morphology

Subcellular localization

cilia associated gene, nuclear bodies, nucleoplasm

Function

Introduction of the SCNM1 WT protein into SCNM1−/− cells restored the expression of TMEM107, CIBAR1, DERL2, ZC3H8 and C17orf75, both at the transcript and protein levels, as well as the ciliary defects associated with the loss of SCNM1 (FPMID: 41291844).