INVS

inversin

Ensembl:
ENSG00000119509
UniProt:
Q9Y283
OMIM:
243305
Synonyms:
NPHP2

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

Subcellular localization

basal body, nucleus

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)

Model organism evidence

Danio rerio (1 reference)

The invssa36157 line exhibits mild ciliopathy phenotypes and increased glomerular and cloaca cyst formation.

PMIDs: 37352572

Mus musculus (1 reference)

Nephronophthisis (NPHP) is a ciliopathy characterized by renal fibrosis and cyst formation, and accounts for a significant portion of end stage renal disease in children and young adults.

PMIDs: 36920028