RIPOR2
Function
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:23241886, PubMed:24687993, 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).
Involvement in disease
Deafness, autosomal recessive, 104
DFNB104
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
None
The disease is caused by variants affecting the gene represented in this entry.
Deafness, autosomal dominant, 21
DFNA21
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated. Isoform 2 is phosphorylated in T cells (PubMed:27556504). Chemokine-induced phosphorylation of isoform 2 in neutrophils occurs in a PKC- and AKT-dependent manner, resulting in RIPOR2 interaction with YWHAB and stabilization (PubMed:25588844). Isoform 2 is phosphorylated by PKCA, AKT1 and MAPKAPK1A; in vitro (PubMed:25588844).
Acetylated during myogenic differentiation.
Sequence Similarities
Belongs to the RIPOR family.
Tissue Specificity
Expressed in primary fetal mononuclear myoblast (PubMed:17150207). Expressed strongly in naive T lymphocytes (PubMed:27556504). Expressed weakly in activated T lymphocytes (at protein level) (PubMed:27556504). Expressed in blood cells and adult tissues of hematopoietic origin, such as the secondary lymphoid organs (PubMed:23241886). Expressed in cytotrophoblast (PubMed:9055809).
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cell projection
- Filopodium
- Cell projection
- Stereocilium
- Cell projection
- Stereocilium membrane
- Apical cell membrane
- Localized in the cytoplasm in cells undergoing mitosis (PubMed:17150207). Colocalized with F-actin (PubMed:17150207). Localized with RHOC within the basal domain of hair cell stereocilia, near the taper region (By similarity). Detected in punctate pattern forming a circumferential ring at the stereocilia base (By similarity). Localized to the apical stereocilia of inner and outer hair cells (By similarity). Not detected as a membrane-associated protein in stereocilia (By similarity).
- Isoform 1
- Cytoplasm
- Isoform 2
- Cytoplasm
- Accumulates at the leading edge of polarized neutrophils in a chemokine-dependent manner (PubMed:25588844).
Alternative names
C6orf32, DIFF48, FAM65B, KIAA0386, PL48, RIPOR2, Rho family-interacting cell polarization regulator 2