Prph2 Gene Summary [Mouse]
Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study partial central choroid dystrophy; patterned macular dystrophy 1; and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Prph2 |
| Official Name | peripherin 2 [Source:MGI Symbol;Acc:MGI:102791] |
| Ensembl ID | ENSMUSG00000023978 |
| Bio databases IDs | |
| Aliases | peripherin 2 |
| Synonyms | AOFMD, AVMD, CACD2, DS, MDBS1, Nmf193, Peripherin2, peripherin/RDS, PRPH, Rd-2, RDS, RP7, RSRDS, TSPAN22 |
| Species | Mouse, Mus musculus |
| 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 mouse Prph2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tetraspanin_LEL
- protein homodimerization
- protein binding
- Tetraspanin family
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- patterned macular dystrophy type 1
- retinal dystrophy
- retinitis pigmentosa
- adult-onset vitelliform macular dystrophy
- retinitis pigmentosa type 7
- fundus albipunctatus
- fundus flavimaculatus
- central areolar choroidal dystrophy type 2
- multifocal Best vitelliform macular dystrophy
- vitelliform macular dystrophy type 3
role in cell
- function
- morphology
- cell death
- quantity
- formation
- length
- number
- activation
- binding in
- swelling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- Golgi Apparatus
- photoreceptor outer segments
- rod outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Prph2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detection of light stimulus involved in visual perception
- retina development in camera-type eye
- protein homooligomerization
- photoreceptor cell outer segment organization
- protein maturation
- protein heterooligomerization
- cell adhesion
- visual perception
- protein localization in plasma membrane
- response to low light intensity stimulus
Cellular Component
Where in the cell the gene product is active
- membrane
- photoreceptor inner segment
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding