PRPH2, Official Symbol PRPH2provided by HGNC Official Full Name peripherin 2provided by HGNC Primary source HGNC:HGNC:9942 See related Ensembl:ENSG00000112619 MIM:179605; AllianceGenome:HGNC:9942 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22 Summary 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] Annotation information Note: PRPH2 (Gene ID: 5961) and PRPH (Gene ID: 5630) loci share the PRPH symbol/alias in common. [08 Feb 2019] Expression Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues See more Orthologs mouse all