Gene: PRPH2

Alternate names for this Gene: AOFMD|AVMD|CACD2|DS|MDBS1|PRPH|RDS|RP7|TSPAN22|rd2

Gene Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: peripherin 2

Type of Gene: protein-coding

rs61748432 in PRPH2 gene and Adult-Onset Vitelliform Macular Dystrophy PMID 17653047 2007 High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

PMID 9338584 1997 Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PMID 15370544 2004 A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

rs6931385 in PRPH2 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121918567 in PRPH2 gene and CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

PMID 19038374 2009 Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PMID 16832026 2006 Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.

rs121918567 in PRPH2 gene and Cone-Rod Dystrophies PMID 14557183 2003 Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.

PMID 22183351 2012 Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

PMID 15779916 2005 Role of the second intradiscal loop of peripherin/rds in homo and hetero associations.

rs61755802 in PRPH2 gene and MACULAR DYSTROPHY, PATTERNED, 1 PMID 9443872 1998 Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

PMID 8485574 1993 Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

PMID 16024869 2005 A novel mutation in the RDS gene in an Italian family with pattern dystrophy.

PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

rs139185976 in PRPH2 gene and Macular dystrophy PMID 9279751 1997 RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs61755783 in PRPH2 gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1554270834 in PRPH2 gene and Retinal Dystrophies PMID 24608669 2014 Prph2 mutations as a cause of electronegative ERG.

rs61755793 in PRPH2 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 8449524 1993 Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

rs121918563 in PRPH2 gene and Retinitis Pigmentosa 7 PMID 11485765 2001 Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.

PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

PMID 1684223 1991 Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

PMID 10627133 1998 Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

PMID 1749427 1991 A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

PMID 16799052 2006 Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

PMID 8020945 1994 A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

PMID 19038374 2009 Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

PMID 22334370 2012 Next-generation genetic testing for retinitis pigmentosa.

PMID 7862413 1995 A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

PMID 1427912 1992 Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

rs61755797 in PRPH2 gene and Vitelliform Macular Dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.