Peripherin 2

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.

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)[1] Band 6p21.1 Start 42,696,598 bp[1] End 42,722,597 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 C|17 22.91 cM Start 47,221,385 bp[2] End 47,235,859 bp[2]
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 [3] [4]
Wikidata
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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.^[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]