INVS

Cilia effects upon perturbation of INVS

Cilia number / % ciliated:

No effect

Loss-of-function effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.00) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

preweaning lethality, complete penetrance, hemorrhage, edema

Human ciliopathy phenotype:

nephronophthisis 2; Nephronophthisis; nephronophthisis; Infantile nephronophthisis; Senior-Loken syndrome

Ciliopathy associations

• Caroli Disease
• Nephronophthisis

References: PMID:12872123, PMID:23559409

Subcellular localization

basal body, nucleus, cilia

References: PMID:41005307, PMID:12872123, PMID:15213257, PMID:36920028, PMID:31895004, PMID:27220846

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Cilia length regulation

Function

Mutations cause infantile nephronophthisis type 2. Role in left-right axis specification (12872123). Forms a stable complex with the cytoskeletal molecule tubulin and may be involved during early microtubule assembly in microtubule-organizing centers (15213257). Ciliation frequency and cilia length were not affected by loss of INVS … (12872123) INVS localizes to the proximal segment / Inv compartment of cilia, mutations cause nephronophthisis (ciliopathy). (36920028) INVS is suggested to cause malfunctioning of primary cilia in NPHP2. (31895004) (27220846)