Tbio PRPH2 Peripherin-2

Protein Summary

Description

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. It is essential for disk morphogenesis. 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]

Uniprot Accession IDs

• P23942
• Q5TFH5
• Q6DK65

Gene Name

• PRPH2

Ensembl ID

• ENST00000230381
• ENSP00000230381
• ENSG00000112619

Symbol

• PRPH
• RDS
• TSPAN22
• DS
• RDS
• RP7
• rd2
• AVMD
• PRPH
• AOFMD
• CACD2
• MDBS1
• TSPAN22

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
phenotype	0.65
tissue sample	0.61
biological term	0.6
microRNA	0.58
protein domain	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 430.52   (req: < 5)

Gene RIFs: 87   (req: <= 3)

Antibodies: 64   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 430.52   (req: >= 5)

Gene RIFs: 87   (req: > 3)

Antibodies: 64   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0