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PRPH2
Identifiers
Aliases	PRPH2, AOFMD, AVMD, CACD2, DS, PRPH, RDS, RP7, TSPAN22, rd2, MDBS1, Peripherin 2, peripherin 2 (retinal degeneration, slow)
External IDs	OMIM: 179605; MGI: 102791; HomoloGene: 273; GeneCards: PRPH2; OMA:PRPH2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.1 Start 42,696,598 bp End 42,722,597 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 C|17 22.91 cM Start 47,221,385 bp End 47,235,859 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in quadriceps femoris muscle vastus lateralis muscle muscle of thigh deltoid muscle testicle gastrocnemius muscle gonad muscle of arm biceps brachii Skeletal muscle tissue of biceps brachii Top expressed in neural layer of retina epithelium of lens retinal pigment epithelium embryo outer nuclear layer pineal gland nucleus of stria terminalis spermatid More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 5961 19133 Ensembl ENSG00000112619 ENSMUSG00000023978 UniProt P23942 P15499 RefSeq (mRNA) NM_000322 NM_008938 RefSeq (protein) NP_000313 NP_032964 Location (UCSC) Chr 6: 42.7 – 42.72 Mb Chr 17: 47.22 – 47.24 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness.

Mutations in the PRPH2 gene are associated with Vitelliform macular dystrophy.

Function

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 transmembrane helices. Tetraspanins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

Peripherin 2 (sometimes referred to as peripherin/RDS or simply RDS) is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is located in the rim regions of the flattened disks that contain rhodopsin, which is the protein that is responsible for initiation of visual phototransduction upon reception of light. Peripherin 2 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.

Clinical significance

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000112619 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000023978 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P (Jan 1992). "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa". Nature. 354 (6353): 478–480. doi:10.1038/354478a0. PMID 1749427. S2CID 4366345.
6. ^ "Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)".

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview

Further reading

• Berditchevski F (2002). "Complexes of tetraspanins with integrins: more than meets the eye". J. Cell Sci. 114 (Pt 23): 4143–51. doi:10.1242/jcs.114.23.4143. PMID 11739647.
• Boesze-Battaglia K, Goldberg AF (2002). "Photoreceptor renewal: a role for peripherin/rds". Int. Rev. Cytol. International Review of Cytology. 217: 183–225. doi:10.1016/S0074-7696(02)17015-X. ISBN 978-0-12-364621-7. PMC 4732730. 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): 805–807. doi:10.1016/S0888-7543(05)80193-4. PMID 1427912.
• 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. PMC 1684267. PMID 1539599.
• 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): 733–739. doi:10.1016/0888-7543(91)90457-P. PMID 1679750.
• 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): 480–483. doi:10.1038/354480a0. PMID 1684223. S2CID 4367647.
• Davies K (1991). "Human genetics. Mapping the way forward". Nature. 353 (6347): 798–799. doi:10.1038/353798a0. PMID 1944554. S2CID 26334246.
• 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): 723–726. Bibcode:1991PNAS...88..723C. doi:10.1073/pnas.88.3.723. PMC 50885. PMID 1992463.
• 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): 70–73. Bibcode:1989Natur.338...70T. doi:10.1038/338070a0. PMID 2918924. S2CID 4240409.
• 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. doi:10.3109/13816819509056911. PMID 7493155.
• 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. doi:10.1016/s0002-9394(14)72913-7. PMID 7519821.
• 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" (PDF). Ophthalmology. 102 (2): 246–55. doi:10.1016/s0161-6420(95)31029-9. PMID 7862413. S2CID 5889459.
• 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): 321–323. doi:10.1002/humu.1380030326. PMID 8019570. S2CID 30416118.
• 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): 137–139. doi:10.1006/geno.1994.1142. PMID 8020945.
• 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. doi:10.1006/geno.1993.1095. PMID 8449524.
• 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): 202–207. doi:10.1038/ng0393-202. PMID 8485574. S2CID 9412767.
• 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): 213–218. doi:10.1038/ng0393-213. PMID 8485576. S2CID 2069405.
• 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. S2CID 6404501.
• 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): 301–309. doi:10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J. PMID 9338584. S2CID 20629219.

• Genes on human chromosome 6