Aliases for RIPOR2 Gene
External Ids for RIPOR2 Gene
Previous HGNC Symbols for RIPOR2 Gene
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]
GeneCards Summary for RIPOR2 Gene
RIPOR2 (RHO Family Interacting Cell Polarization Regulator 2) is a Protein Coding gene. Diseases associated with RIPOR2 include Deafness, Autosomal Recessive 104 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. An important paralog of this gene is RIPOR1.
UniProtKB/Swiss-Prot for RIPOR2 Gene
Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).
Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).