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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PRPH2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5961
Official gene symbolPRPH2
Full nameperipherin 2 (retinal degeneration, slow)
Aliases,AOFMD,AVMD,CACD2,DS,PRPH,RDS,RP7,TSPAN22,rd2,
Gene summaryThe 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]
LocationChromosome: 6   Locus: 6p21.2-p12.3
Gene position42690358 - 42664333  Map Viewer
Gene orientationminus
Gene size26026 bp
Gene sequence
OMIM ID179605