Homo sapiens Protein: PRPH2
InnateDB Protein IDBP-87314.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PRPH2
Protein Name peripherin 2 (retinal degeneration, slow)
Synonyms AOFMD; AVMD; CACD2; DS; PRPH; rd2; RDS; RP7; TSPAN22;
Species Homo sapiens
Ensembl Protein ENSP00000230381
InnateDB Gene IDBG-87312 (PRPH2)
Protein Structure
UniProt Annotation
Function 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.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:10627133, ECO:0000269PubMed:1427912, ECO:0000269PubMed:1684223, ECO:0000269PubMed:1749427, ECO:0000269PubMed:22334370, ECO:0000269PubMed:7862413, ECO:0000269PubMed:8020945}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the gene represented in this entry.Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. {ECO:0000269PubMed:9338584}. Note=The disease is caused by mutations affecting the gene represented in this entry.Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]: A heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly- shaped pigment dystrophy. {ECO:0000269PubMed:16024869, ECO:0000269PubMed:8485574, ECO:0000269PubMed:9443872}. Note=The disease is caused by mutations affecting the gene represented in this entry.Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]: A disease of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. {ECO:0000269PubMed:16832026}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.
Tissue Specificity Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
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
Protein Structure and Domains
InterPro IPR000830 Peripherin/rom-1
IPR008952 Tetraspanin, EC2 domain
IPR018499 Tetraspanin/Peripherin
PFAM PF00335
Post-translational Modifications
SwissProt P23942
PhosphoSite PhosphoSite-P23942
UniProt Splice Variant
Entrez Gene 5961
UniGene Hs.710129
RefSeq NP_000313
OMIM 179605
HPRD 01553
EMBL AL049843 BC074720 M73531 U07147 U07148 U07149
GenPept AAA16958 AAA60260 AAH74720 CAB75420