Aliases for RIPOR2 Gene
- RHO Family Interacting Cell Polarization Regulator 2 2 3 5
- Family With Sequence Similarity 65 Member B 2 3
- C6orf32 3 4
- FAM65B 3 4
- DIFF48 3 4
- PL48 3 4
- Myogenesis-Related And NCAM-Associated Protein Homolog (Chicken) 2
- Myogenesis-Related And NCAM-Associated Protein Homolog 3
- Rho Family-Interacting Cell Polarization Regulator 2 3
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
Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:24687993, PubMed:23241886, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875).
Isoform 2: Acts as an inhibitor of the small GTPase RHOA (PubMed:25588844). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state (PubMed:27556504).