RIPOR2

Chr 6

RHO family interacting cell polarization regulator 2

Also known as: C6orf32, DFNA21, DFNB104, DIFF40, DIFF48, FAM65B, MYONAP, PL48

NCBI Gene: 9750 ENSG00000111913 UniProt: Q9Y4F9

The protein acts as an inhibitor of the small GTPase RHOA and is essential for normal development and structural organization of hair cell stereocilia within the cochlea, which is required for normal hearing. Mutations cause autosomal recessive deafness (DFNB104) or autosomal dominant deafness (DFNA21). The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 104

UniProtDeafness, autosomal dominant, 21

Clinical highlights

Gene-disease validity (ClinGen)

autosomal dominant nonsyndromic hearing loss · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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