Peripherin 2

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
Gene location (Human)
Chr.	Chromosome 6 (human)
End	42,722,597 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	47,235,859 bp
RNA expression pattern
	Top expressed in
	quadriceps femoris muscle; ; vastus lateralis muscle; ; deltoid muscle; ; gastrocnemius muscle; ; biceps brachii; ; prefrontal cortex; ; smooth muscle tissue; ; ganglionic eminence; ; islet of Langerhans; ; dorsolateral prefrontal cortex;
	Top expressed in
	retinal pigment epithelium; ; outer nuclear layer; ; pineal gland; ; spermatid;
	More reference expression data
	More reference expression data
Orthologs
	5961
	19133
	ENSG00000112619
	ENSMUSG00000023978
	P23942
	P15499
	NM_000322
	NM_008938
	NP_000313
	NP_032964
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene.^[5]^[6] 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.

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.^[6]

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.^[6]

Related Research Articles

Rhodopsin, also known as visual purple, is a protein encoded by the RHO gene and a G-protein-coupled receptor (GPCR). It is the opsin of the rod cells in the retina and a light-sensitive receptor protein that triggers visual phototransduction in rods. Rhodopsin mediates dim light vision and thus is extremely sensitive to light. When rhodopsin is exposed to light, it immediately photobleaches. In humans, it is regenerated fully in about 30 minutes, after which the rods are more sensitive. Defects in the rhodopsin gene cause eye diseases such as retinitis pigmentosa and congenital stationary night blindness.

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.

Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The condition is characterized by yellow, slightly elevated, round structures similar to the yolk of an egg.

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3, is a protein that in humans is encoded by the NR2E3 gene. PNR is a member of the nuclear receptor super family of intracellular transcription factors.

X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. The gene is located on the X-chromosome and is commonly associated with X-linked retinitis pigmentosa (XLRP). In photoreceptor cells, RPGR is localized in the connecting cilium which connects the protein-synthesizing inner segment to the photosensitive outer segment and is involved in the modulation of cargo trafficked between the two segments.

ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene.

PRP31 pre-mRNA processing factor 31 homolog , also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene.

Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.

Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene.

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.

Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.

Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.

Fascin-2 is a protein that in humans is encoded by the FSCN2 gene.

Retinal degeneration is a retinopathy which consists in the deterioration of the retina caused by the progressive death of its cells. There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P., or disease. These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision. Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example.

Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.

Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina (macula), the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality. "Occult" refers to the degradation in the fundus being difficult to discern. The disorder is called "dystrophy" instead of "degradation" to distinguish its genetic origin from other causes, such as age. OMD was first reported by Y. Miyake et al. in 1989.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000112619 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000023978 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 3 "Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)".

External links

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

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000112619 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid1749427-5] 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.

[entrez-6] 1 2 3 "Entrez Gene: PRPH2 peripherin 2 (retinal degeneration, slow)".

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