RIPOR2

RHO family interacting cell polarization regulator 2

Ensembl:
ENSG00000111913
UniProt:
Q9Y4F9
OMIM:
611410
Synonyms:
C6ORF32, DIFF48, FAM65B, KIAA0386, MYONAP

Cilia effects upon perturbation of RIPOR2

Phenotypes

Human ciliopathy phenotype:
hearing loss, autosomal recessive

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • T cell biology
  • Cell migration & adhesion
  • Cardiac & muscle development

Function

Mutations cause deafness. Interacts with Myh9, which is related to deafness. Regulates the abundance and post translatio l modifications of proteins highly expressed within the kinocilium , which suggestes a role in hair bundle morphogenesis (30280293).

Model organism evidence

Mus musculus (1 reference)

In Ripor2-deficient mice, kinocilium shows an aberrant localization which associates with a reduced content of phosphorylated Myh9.

PMIDs: 30280293