Entity Details

Primary name PRPH2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP23942
EntryNamePRPH2_HUMAN
FullNamePeripherin-2
TaxID9606
Evidenceevidence at protein level
Length346
SequenceStatuscomplete
DateCreated1992-03-01
DateModified2021-04-07

Ontological Relatives

GenesPRPH2

GO terms

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GOName
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005887 integral component of plasma membrane
GO:0007155 cell adhesion
GO:0007601 visual perception
GO:0016021 integral component of membrane
GO:0035845 photoreceptor cell outer segment organization
GO:0042803 protein homodimerization activity
GO:0050908 detection of light stimulus involved in visual perception
GO:0051260 protein homooligomerization
GO:0051291 protein heterooligomerization
GO:0060041 retina development in camera-type eye

Subcellular Location

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Subcellular Location
Cell projection
Membrane
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR000830 Peripherin/rom-1FamilyFamily
IPR008952 Tetraspanin, EC2 domain superfamilyFamilyHomologous superfamily
IPR018498 Peripherin/rom-1, conserved siteSiteConserved site
IPR018499 Tetraspanin/PeripherinFamilyFamily
IPR042026 Peripherin, extracellular domainDomainDomain

Diseases

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Disease IDSourceNameDescription
608161 OMIMMacular 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. The disease is caused by variants affecting the gene represented in this entry.
169150 OMIMMacular 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. The disease is caused by variants affecting the gene represented in this entry.
136880 OMIMRetinitis 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. The disease is caused by variants affecting the gene represented in this entry.
613105 OMIMChoroidal 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. The disease is caused by variants affecting the gene represented in this entry.
608133 OMIMRetinitis 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. The disease is caused by variants affecting the gene represented in this entry.
268000 OMIMRetinitis pigmentosa (RP)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.