RXFP2

Cilia effects upon perturbation of RXFP2

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.97) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

increased pulmory respiratory rate, increased circulating alkaline phosphatase level, uriry bladder obstruction, increased circulating lipase level, abnormal optic disk morphology, increased erythrocyte cell number, decreased locomotor activity, increased hematocrit, increased circulating sodium level, increased hemoglobin content, increased circulating calcium level

Mouse ciliopathy phenotype:

male infertility, abnormal liver morphology, small testis, increased circulating aspartate transamise level

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).

Model organism evidence