Peripherin 2 (PRPH2) Associated conditions: 1. Retinitis pigmentosa 2. Stargardt disease
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000322.5 | NP_000313.2 | NC_000006.12 | (42696597..42722596, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | XR_007059288.1 | - | NC_000006.12 | (42696597..42722596, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Peripherin 2 (PRPH2) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | IEA | located_in | photoreceptor inner segment | Component | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 32814053 |
| 4 | Homo sapiens | IBA | is_active_in | plasma membrane | Component | - |
| 5 | Homo sapiens | IEA | involved_in | cell adhesion | Process | - |
| 6 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 7 | Homo sapiens | TAS | involved_in | visual perception | Process | 1749427 |
| 8 | Homo sapiens | IEA | involved_in | response to low light intensity stimulus | Process | - |
| 9 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 10 | Homo sapiens | TAS | located_in | membrane | Component | 1749427 |
| 11 | Homo sapiens | IEA | enables | protein homodimerization activity | Function | - |
| 12 | Homo sapiens | IBA | involved_in | protein maturation | Process | - |
| 13 | Homo sapiens | IBA | involved_in | protein localization to plasma membrane | Process | - |