RIPOR2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RIPOR2 |
| Official Name | RHO family interacting cell polarization regulator 2 [Source:HGNC Symbol;Acc:HGNC:13872] |
| Ensembl ID | ENSG00000111913 |
| Bio databases IDs | |
| Aliases | RHO family interacting cell polarization regulator 2, myogenesis-related and NCAM-associated protein homolog (chicken) |
| Synonyms | Ab2-162, Al225904, C6orf32, DFNA21, DFNB104, DIFF40, DIFF48, E430013J17Rik, FAM65B, LOC101928642, MYONAP, PL48, RGD1306939, RHO family interacting cell polarization regulator 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RIPOR2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ferritin-like domain
- protein binding
- identical protein binding
- Ferritin-like superfamily of diiron-containing four-helix-bundle proteins
- Filopodia upregulated, FAM65
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gout
- survival
- asthma
- autosomal dominant deafness type 21
- idiopathic scoliosis
- non-insulin-dependent diabetes mellitus
- insulin-dependent diabetes mellitus
- androgenic alopecia
- dementia
- autosomal recessive deafness type 104
role in cell
- proliferation
- migration
- cell viability
- assembly
- adhesion
- differentiation
- response by
- cell cycle progression
- migration by
- polarization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- cytosol
- stereocilia
- apical membrane
- neurites
- filopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RIPOR2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of neutrophil extravasation
- negative regulation of Rho protein signal transduction
- positive regulation of neutrophil chemotaxis
- negative regulation of cell adhesion
- positive regulation of filopodium assembly
- positive regulation of myoblast differentiation
- cell adhesion
- sensory perception of sound
- muscle organ development
- chemotaxis
- negative regulation of T cell migration
- cell differentiation
- negative regulation of Rho guanyl-nucleotide exchange factor activity
- regulation of establishment of cell polarity
Cellular Component
Where in the cell the gene product is active
- cytoskeleton
- cytoplasm
- filopodium
- stereocilium
- stereocilium membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- 14-3-3 protein binding