NPHP4

Cilia effects upon perturbation of NPHP4

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.36) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

nephronophthisis; Senior-Loken syndrome; Nephronophthisis; nephronophthisis 4; Senior-Loken syndrome 4

Ciliopathy associations

• Nephronophthisis
• Senior-Løken Syndrome

References: PMID:11920287, PMID:33512896, PMID:40725491

Subcellular localization

centrosome, cilia, cytosol

References: PMID:25150219, PMID:15661758

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Involved in familial juvenile nephronophthisis and retinitis pigmentosa. Component of the transition zone barrier that controls the movement of proteins between the flagellar and cytoplasmic compartments. Potentially interacts with MKS/B9 proteins to prevent ciliary membrane proteins from diffusing out of the cilium (25150219). Probably involved in actin and microtubule organisation in cell–cell and cell–matrix adhesion signaling (15661758).