RIPOR2

RHO family interacting cell polarization regulator 2

Tier: Gold Standard Ciliary Genes

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

Phenotypes

Human ciliopathy phenotype:: hearing loss, autosomal recessive

Subcellular localization

cilia

References: PMID:30280293

Functional category

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

Function

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

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