PRPH2

PRPH2 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.

Full Name

Peripherin 2

Function

Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity).
Required for the maintenance of retinal outer nuclear layer thickness (By similarity).
Required for the correct development and organization of the photoreceptor inner segment (By similarity).

Biological Process

Cell adhesionIEA:UniProtKB-KW
Detection of light stimulus involved in visual perceptionIEA:Ensembl
Photoreceptor cell outer segment organizationIEA:Ensembl
Protein heterooligomerizationIEA:Ensembl
Protein homooligomerizationIEA:Ensembl
Response to low light intensity stimulusIEA:Ensembl
Rretina development in camera-type eyeIEA:Ensembl
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Membrane
Cell projection, cilium, photoreceptor outer segment
Photoreceptor inner segment

Involvement in disease

Retinitis pigmentosa 7 (RP7):
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.
Retinitis punctata albescens (RPA):
A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
Macular dystrophy, vitelliform, 3 (VMD3):
A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
Macular dystrophy, patterned, 1 (MDPT1):
A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
Choroidal dystrophy, central areolar 2 (CACD2):
A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.

Topology

Cytoplasmic: 1-24
Helical: 25-43
Lumenal: 44-61
Helical: 62-80
Cytoplasmic: 81-99
Helical: 100-123
Lumenal: 124-264
Helical: 265-290
Cytoplasmic: 291-346