Peripherin 2

Alternative Names

  • PRPH2
  • RDS, Mouse, Homolog of
  • RDS
  • Peripherin, Photoreceptor Type
  • Retinal Degeneration, Slow, Mouse, Homolog of

Associated Diseases

Retinitis Pigmentosa 7
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OMIM Number

179605

NCBI Gene ID

5961

Uniprot ID

P23942

Length

28,531 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Peripherin-2

Molecular Mass

39186 Da

Amino Acid Count

346

Genomic Location

chr6:42,694,508-42,723,038

Gene Map Locus
6p21.1

Description

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. [From RefSeq]

Molecular Genetics

The human PRPH2 gene is located on chromosome 6p21.1 and is composed of five exons.  The protein product encoded by the gene is made up of 346 amino acids.  PRPH2 belongs to the tertraspanin family of proteins, members of which are characterized by the presence of four hydrophobic transmembrane domains.  The protein contains a large, conserved region, called the D2 intradiscal region, which plays an important role in the PRPH2 complex assembly necessary for disc formation and stabilization.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000322.4:c.659G>AUnited Arab EmiratesNC_000006.12:g.42704534C>TLikely Pathogenic, PathogenicLikely PathogenicRetinitis Pigmentosa 7 NG_009176.1:g.23087G>A; NM_000322.4:c.659G>A; NP_000313.2:p.Arg220Gln6175581098699

Other Reports

Saudi Arabia

Khan et al. (2016) studied three consanguineous families confirmed to have children affected with non-syndromic early childhood onset retinal dysfunction.  All patients in these families underwent diagnostic next generation sequencing (NGS) of a panel of all retinal dystrophy genes.  The single affected patient in the first family was found to be homozygous for a novel PRPH2 mutation (c.497G>A; p.Cys166Tyr) and both parents were confirmed as heterozygous carriers.  Two affected siblings in the second family were confirmed to be homozygous for the mutation c.136C>T (p.Arg46*) in the same gene. This mutation has been associated with a diagnosis of Leber congenital amaurosis.  The heterozygous parents had mild myopia.  The two affected siblings in the third family were found to be homozygous for the same PRPH2 mutation found in Family 1.  Their mother had noticed loss of vision in her right eye, and was confirmed to be heterozygous for the familial PRPH2 mutation.  The authors concluded that bi-allelic PRPH2 mutations caused a distinct Leber congenital amaurosis phenotype in infancy, with affected adults having prominent maculopathy.  The heterozygous parents could be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings

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