PRPH2

Chr 6

peripherin 2

Also known as: AOFMD, AVMD, CACD2, DS, MDBS1, RDS, RP7, TSPAN22

NCBI Gene: 5961 ENSG00000112619 UniProt: P23942

The protein is essential for photoreceptor outer segment disk morphogenesis and maintenance of disk structure in both rod and cone cells of the retina. Mutations cause a spectrum of retinal dystrophies including retinitis pigmentosa, Leber congenital amaurosis, macular dystrophies, and choroidal dystrophy, with onset ranging from congenital to adult depending on the specific condition. Inheritance patterns include autosomal dominant, autosomal recessive, and digenic forms.

ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 7

UniProtRetinitis punctata albescens

UniProtMacular dystrophy, vitelliform, 3

UniProtMacular dystrophy, patterned, 1

Clinical highlights

Gene-disease validity (ClinGen)

PRPH2-related retinopathy · SDDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

LOF*

Mechanism· G2P

Some data sources returned errors (1)

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