InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRPH2

Summary

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.

Comments

Interactions

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