Homo sapiens Gene: PRPH2
InnateDB Gene IDBG-87312.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRPH2
Gene Name peripherin 2 (retinal degeneration, slow)
Synonyms AOFMD; AVMD; CACD2; DS; PRPH; rd2; RDS; RP7; TSPAN22
Species Homo sapiens
Ensembl Gene ENSG00000112619
Encoded Proteins
peripherin 2 (retinal degeneration, slow)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:42696600-42722574
Strand Reverse strand
Band p21.1
ENST00000230381 ENSP00000230381
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007155 cell adhesion
GO:0007601 visual perception
GO:0009645 response to low light intensity stimulus
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0016021 integral component of membrane
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
UniProt Splice Variant
Entrez Gene
UniGene Hs.710129
RefSeq NM_000322
HPRD 01553
RNA Seq Atlas