Peripherin 2

Peripherin 2 (retinal degeneration, slow)
Identifiers
Symbols	PRPH2 ; PRPH; AOFMD; AVMD; RDS; RP7; TSPAN22; rd2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 273
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PRPH2 206625 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Peripherin 2 (retinal degeneration, slow), also known as PRPH2, is a human gene.

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.

Further reading

• Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell. Sci. 114 (Pt 23): 4143–51. PMID 11739647.
• Boesze-Battaglia K, Goldberg AF (2002). "Photoreceptor renewal: a role for peripherin/rds". Int. Rev. Cytol. 217: 183–225. PMID 12019563.
• Farrar GJ, Kenna P, Jordan SA; et al. (1992). "Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree". Genomics. 14 (3): 805–7. PMID 1427912.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jordan SA, Farrar GJ, Kumar-Singh R; et al. (1992). "Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin". Am. J. Hum. Genet. 50 (3): 634–9. PMID 1539599.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Travis GH, Christerson L, Danielson PE; et al. (1991). "The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA". Genomics. 10 (3): 733–9. PMID 1679750.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kajiwara K, Hahn LB, Mukai S; et al. (1992). "Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa". Nature. 354 (6353): 480–3. doi:10.1038/354480a0. PMID 1684223.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Farrar GJ, Kenna P, Jordan SA; et al. (1992). "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa". Nature. 354 (6353): 478–80. doi:10.1038/354478a0. PMID 1749427.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davies K (1991). "Human genetics. Mapping the way forward". Nature. 353 (6347): 798–9. doi:10.1038/353798a0. PMID 1944554.
• Connell G, Bascom R, Molday L; et al. (1991). "Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse". Proc. Natl. Acad. Sci. U.S.A. 88 (3): 723–6. PMID 1992463.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Travis GH, Brennan MB, Danielson PE; et al. (1989). "Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)". Nature. 338 (6210): 70–3. doi:10.1038/338070a0. PMID 2918924.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reig C, Serra A, Gean E; et al. (1996). "A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy". Ophthalmic Genet. 16 (2): 39–44. PMID 7493155.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Feist RM, White MF, Skalka H, Stone EM (1994). "Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)". Am. J. Ophthalmol. 118 (2): 259–60. PMID 7519821.CS1 maint: Multiple names: authors list (link)
• Gorin MB, Jackson KE, Ferrell RE; et al. (1995). "A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration". Ophthalmology. 102 (2): 246–55. PMID 7862413.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grüning G, Millan JM, Meins M; et al. (1994). "Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa". Hum. Mutat. 3 (3): 321–3. doi:10.1002/humu.1380030326. PMID 8019570.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kikawa E, Nakazawa M, Chida Y; et al. (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". Genomics. 20 (1): 137–9. doi:10.1006/geno.1994.1142. PMID 8020945.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Farrar GJ, Kenna P, Jordan SA; et al. (1993). "Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree". Genomics. 15 (2): 466. PMID 8449524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nichols BE, Sheffield VC, Vandenburgh K; et al. (1993). "Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene". Nat. Genet. 3 (3): 202–7. doi:10.1038/ng0393-202. PMID 8485574.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wells J, Wroblewski J, Keen J; et al. (1993). "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy". Nat. Genet. 3 (3): 213–8. doi:10.1038/ng0393-213. PMID 8485576.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Keen TJ, Inglehearn CF (1997). "Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration". Hum. Mutat. 8 (4): 297–303. doi:10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5. PMID 8956033.
• Felbor U, Schilling H, Weber BH (1997). "Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene". Hum. Mutat. 10 (4): 301–9. doi:10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J. PMID 9338584.CS1 maint: Multiple names: authors list (link)