RIPOR2 Gene - RHO Family Interacting Cell Polarization Regulator 2
Comprehensive genomic, functional, and clinical overview of RIPOR2 (formerly FAM65B) in hearing loss and cellular polarity.
Gene Information Card
| Symbol | RIPOR2 |
|---|---|
| Full Name | RHO Family Interacting Cell Polarization Regulator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 122830 ncbi.nlm.nih.gov/gene/122830 |
| Ensembl ID | ENSG00000112763 |
| UniProt ID | Q9Y4F3 |
| OMIM ID | 611410 |
| HGNC ID | 30442 |
| Aliases | FAM65B, C6orf32, DFNB104, bA65N13.2 |
Description
RIPOR2 (RHO Family Interacting Cell Polarization Regulator 2), previously known as FAM65B, encodes a protein involved in cell polarity, cytoskeletal organization, and RHO signaling. It is essential for hair cell stereocilia maintenance in the inner ear. Loss-of-function mutations cause autosomal recessive non-syndromic hearing loss DFNB104. RIPOR2 is also expressed in immune cells and implicated in myoblast fusion and T-cell polarization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive non-syndromic hearing loss DFNB104 | Loss-of-function mutations disrupt stereocilia maintenance in cochlear hair cells, leading to progressive hearing loss. | ClinVar, OMIM #611410 |
| Hearing loss, age-related (potential modifier) | RIPOR2 variants may contribute to susceptibility to age-related hearing loss. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Inner ear (cochlea) | — | High |
| Lung | — | Moderate |
| Spleen | — | Moderate |
| Testis | — | Low |
| Brain | — | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | — | Low endogenous expression |
| K562 | — | Moderate |
| Hair cell lines (cochlear) | — | High |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1582C>T (p.Arg528*) | Nonsense | Rare | Loss-of-function; associated with DFNB104 |
| c.1687C>T (p.Arg563*) | Nonsense | Rare | Loss-of-function; associated with DFNB104 |
| c.1975C>T (p.Arg659*) | Nonsense | Rare | Loss-of-function; associated with DFNB104 |
| c.2200C>T (p.Arg734*) | Nonsense | Rare | Loss-of-function; associated with DFNB104 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RIPOR2 lead to truncated protein, loss of stereocilia maintenance, and autosomal recessive hearing loss DFNB104.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RHO GTPase signaling
• Cell polarity and migration
• Hair cell stereocilia maintenance
Protein Summary
The RIPOR2 protein (UniProt Q9Y4F3) is a 1,088-amino-acid intracellular protein localized to the plasma membrane and actin cytoskeleton. It contains a RHO-binding domain and regulates cell polarity by interacting with RHO family GTPases. In the inner ear, RIPOR2 is critical for the maintenance of stereocilia bundles in hair cells. It also plays roles in T-cell polarization and myoblast fusion. The protein is expressed in multiple tissues, with highest levels in the cochlea.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPOR2 Knockout HEK293 Cell Line | EDJ-KQ6070 | Human | 9750 | Details Get a Quote |
| RIPOR2 Knockout HeLa Cell Line | EDJ-KQ55245 | Human | 9750 | Details Get a Quote |
| RIPOR2 Knockout A-549 Cell Line | EDJ-KQ63724 | Human | 9750 | Details Get a Quote |
| RIPOR2 Knockout HCT 116 Cell Line | EDJ-KQ72185 | Human | 9750 | Details Get a Quote |
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