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].

peripherin 2MIM:179605Ensembl:ENSG00000112619HGNC:HGNC:9942PA343106p21.1

GO terms in PRPH2

Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0001750photoreceptor outer segment
CCIBAGO:0005887integral component of plasma membrane
CCTASGO:0016021integral component of membrane
BPIEAGO:0007155cell adhesion
BPIBAGO:0007166cell surface receptor signaling pathway
BPIEAGO:0007601visual perception
BPIEAGO:0060041retina development in camera-type eye

Gene expression in normal tissue: PRPH2

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PRPH2

DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PRPH2