AlphaFold predicted structure
PRPH2 · P23942
Mean pLDDT
87.0/ 100
Confident
346 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)20%
- Low(50–70)9%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PRPH2
Chr 6p21.1peripherin 2
- Aliases:
- TSPAN22, rd2, CACD2
- MANE:
- ENST00000230381.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disease associations (Open Targets)
retinitis pigmentosa
0.82patterned macular dystrophy 1
0.77vitelliform macular dystrophy 3
0.75choroidal dystrophy, central areolar 2
0.72Butterfly-shaped pigment dystrophy
0.72retinal disorder
0.69Cone rod dystrophy
0.63cone-rod dystrophy
0.63macular degeneration
0.60Macular dystrophy
0.60
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Peripherin-2
Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity)
Diseases associated with PRPH2
Curated MONDO disease pages that list PRPH2 among their top associated genes.