PRPH2 Gene: Peripherin 2 (Retinal Degeneration, Slow)
Essential structural protein for photoreceptor outer segment discs; mutations cause inherited retinal dystrophies.
Gene Information Card
| Symbol | PRPH2 |
|---|---|
| Full Name | Peripherin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 5961 ncbi.nlm.nih.gov/gene/5961 |
| Ensembl ID | ENSG00000112619 |
| UniProt ID | P23942 |
| OMIM ID | 179605 |
| HGNC ID | 9949 |
| Aliases | RDS, RP7, AVMD, CACD2, PRPH, rd2, TSPAN22 |
Description
The PRPH2 gene encodes peripherin 2, a transmembrane glycoprotein essential for the formation and maintenance of photoreceptor outer segment discs. It is expressed in rod and cone photoreceptors and interacts with ROM1 to form tetramers that stabilize disc rim structures. Mutations in PRPH2 are a common cause of autosomal dominant retinitis pigmentosa (adRP) and various macular dystrophies, including pattern dystrophy and adult vitelliform macular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal dominant) | Dominant negative or haploinsufficiency leading to photoreceptor degeneration | ClinVar, OMIM |
| Macular dystrophy, pattern (including adult vitelliform) | Dominant negative effect disrupting disc structure in macula | ClinVar, OMIM |
| Cone-rod dystrophy | Loss of function or dominant negative affecting cone survival | ClinVar |
| Retinitis pigmentosa (autosomal recessive) | Biallelic loss-of-function mutations | OMIM, ClinVar |
| Fundus flavimaculatus (atypical) | Specific missense mutations altering protein function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (retina) | Not available (nTPM from GTEx) | High (retina-specific) |
| Other tissues | Not detected | Low/None |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not available | Low expression; not primary site |
| Y79 (retinoblastoma) | Not available | May express but not typical |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.828+3A>T | Splice site | Rare | Splicing defect leading to truncated protein |
| p.Pro216Leu | Missense | Common in adRP | Disrupts disulfide bonding, dominant negative |
| p.Arg172Trp | Missense | Reported | Alters protein folding, causes pattern dystrophy |
| p.Leu185Pro | Missense | Rare | Severe photoreceptor degeneration |
| c.514C>T (p.Arg172Ter) | Nonsense | Rare | Premature stop, haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Biallelic null mutations cause recessive retinitis pigmentosa; haploinsufficiency may contribute to dominant forms.
Gain of Function (GOF)
Not typically described; some missense mutations may exert toxic gain-of-function effects.
Dominant Negative (DN)
Most common mechanism; mutant peripherin 2 interferes with wild-type protein in disc formation.
View complete mutation data：
Gene Ontology (GO)
| • photoreceptor outer segment | • integral component of membrane |
| • protein homodimerization activity | • identical protein binding |
| • visual perception | • phototransduction |
Pathways
• Photoreceptor outer segment morphogenesis
• Retinol metabolism (visual cycle)
• Cell-cell adhesion (via tetraspanin family)
Protein Summary
Peripherin 2 is a 346-amino acid tetraspanin membrane protein localized to the rim region of photoreceptor outer segment discs. It forms disulfide-linked homodimers and heterotetramers with ROM1, providing structural stability and curvature to the discs. The protein is critical for the renewal of outer segments; defects lead to progressive retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPH2 Knockout HEK293 Cell Line | EDJ-KQ4900 | Human | 5961 | Details Get a Quote |
| PRPH2 Knockout HeLa Cell Line | EDJ-KQ54306 | Human | 5961 | Details Get a Quote |
| PRPH2 Knockout A-549 Cell Line | EDJ-KQ62800 | Human | 5961 | Details Get a Quote |
| PRPH2 Knockout HCT 116 Cell Line | EDJ-KQ71266 | Human | 5961 | Details Get a Quote |
| PRPH2 Overexpression HEK293T Stable Cell Line | EDC90339 | Human | 5961 | Details Get a Quote |
