PRPH2, peripherin 2

PRPH2, peripherin 2

• 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]

• Gene Synonyms (peripherin-2, peripherin 2 (retinal degeneration, slow), peripherin 2, homolog of mouse, peripherin, photoreceptor type, retinal degeneration slow protein, retinal peripherin, tetraspanin-22, tspan-22, AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2,)
• NCBI Gene ID: 5961
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P23942
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

peripherin 2 interacts with:

• GRB2 related adaptor protein 2
  retinal outer segment membrane protein 1
  serine and arginine rich splicing factor 5

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.