Identity
HGNC
LOCATION
6p21.1
LOCUSID
ALIAS
AOFMD,AVMD,CACD2,DS,MDBS1,PRPH,RDS,RP7,TSPAN22,rd2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5961
MIM: 179605
HGNC: 9942
Ensembl: ENSG00000112619
Variants:
dbSNP: 5961
ClinVar: 5961
TCGA: ENSG00000112619
COSMIC: PRPH2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112619 | ENST00000230381 | P23942 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38474159 | 2024 | PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. | 1 |
| 38474159 | 2024 | PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. | 1 |
| 34127626 | 2023 | NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT. | 0 |
| 36563963 | 2023 | PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations. | 6 |
| 37047703 | 2023 | New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. | 1 |
| 37164409 | 2023 | Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. | 0 |
| 34127626 | 2023 | NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT. | 0 |
| 36563963 | 2023 | PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations. | 6 |
| 37047703 | 2023 | New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. | 1 |
| 37164409 | 2023 | Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. | 0 |
| 34906036 | 2022 | PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation. | 2 |
| 35344225 | 2022 | Prph2 disease mutations lead to structural and functional defects in the RPE. | 2 |
| 35353811 | 2022 | Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. | 5 |
| 35861669 | 2022 | Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2. | 2 |
| 36088804 | 2022 | PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. | 1 |
Citation
Dessen P
PRPH2 (peripherin 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49883/prph2
