PRPH2 Chromosome 6
Peripherin 2
Upload your DNA to see your personal genotypes for variants in PRPH2.
What This Gene Does
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 Info
Gene Group
Tetraspanins
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000112619
Associated Conditions (35)
Patterned macular dystrophy 1
Retinitis pigmentosa
Adult-onset foveomacular vitelliform dystrophy
Pigmentary retinal dystrophy
Cone-rod dystrophy
Choroidal dystrophy
central areolar 2
Macular dystrophy
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Vitelliform macular dystrophy 2
Retinitis pigmentosa 7
Retinal disorder
Usher syndrome
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 3
Optic atrophy
Blurred vision
Abnormal retinal pigmentation
+15 more conditions
Key Variants
RS113384495
Conflicting classifications of pathogenicity
Patterned macular dystrophy 1, Retinitis pigmentosa, Adult-onset foveomacular vitelliform dystrophy
Health Risk
RS139177846
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Patterned macular dystrophy 1, Retinitis pigmentosa
Health Risk
RS139185976
Conflicting classifications of pathogenicity
Macular dystrophy, Patterned macular dystrophy 1, PRPH2-related disorder
Health Risk
RS139329966
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Retinitis pigmentosa, Choroidal dystrophy
Health Risk
RS139936445
Conflicting classifications of pathogenicity
Patterned macular dystrophy 1, Adult-onset foveomacular vitelliform dystrophy, Cone-rod dystrophy
Health Risk
RS140227298
Conflicting classifications of pathogenicity
Patterned macular dystrophy 1, Cone-rod dystrophy, Choroidal dystrophy
Health Risk
RS1442844778
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy, PRPH2-related disorder
Health Risk
RS146703538
Conflicting classifications of pathogenicity
PRPH2-related disorder, Adult-onset foveomacular vitelliform dystrophy, Cone-rod dystrophy
Health Risk
RS150381599
Conflicting classifications of pathogenicity
PRPH2-related disorder, PRPH2-related disorder
Health Risk
RS1582759492
Conflicting classifications of pathogenicity
Macular dystrophy, PRPH2-related disorder, Cone-rod dystrophy
Health Risk
RS1582764519
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, PRPH2-related disorder
Health Risk
RS1761907993
Conflicting classifications of pathogenicity
Retinal dystrophy, PRPH2-related disorder, Retinal dystrophy
Health Risk
All Variants (309)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1424831291 | Health Risk | Likely pathogenic | — |
| RS1458793437 | Health Risk | Likely pathogenic | Retinal dystrophy, PRPH2-related disorder, Patterned macular dystrophy 1 |
| RS1554270806 | Health Risk | Likely pathogenic | — |
| RS1554270848 | Health Risk | Likely pathogenic | — |
| RS1582764600 | Health Risk | Likely pathogenic | Patterned macular dystrophy 1, Patterned macular dystrophy 1 |
| RS1582764697 | Health Risk | Likely pathogenic | Patterned macular dystrophy 1, PRPH2-related disorder, Patterned macular dystrophy 1 |
| RS1582764714 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS1582780550 | Health Risk | Likely pathogenic | Retinal dystrophy, Stargardt disease, Retinal dystrophy |
| RS1761906682 | Health Risk | Likely pathogenic | Retinitis pigmentosa 7, Retinitis pigmentosa 7 |
| RS1761910060 | Health Risk | Likely pathogenic | PRPH2-related disorder, Retinal dystrophy, PRPH2-related disorder |
| RS1761911206 | Health Risk | Likely pathogenic | PRPH2-related disorder, Retinitis pigmentosa, PRPH2-related disorder |
| RS1761915143 | Health Risk | Likely pathogenic | Adult-onset foveomacular vitelliform dystrophy, Retinal dystrophy, Adult-onset foveomacular vitelliform dystrophy |
| RS1761918414 | Health Risk | Likely pathogenic | — |
| RS1761921113 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1800108549 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1800110234 | Health Risk | Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS1800111486 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1800114066 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1800114220 | Health Risk | Likely pathogenic | Adult-onset foveomacular vitelliform dystrophy, Adult-onset foveomacular vitelliform dystrophy |
| RS1800118385 | Health Risk | Likely pathogenic | Stargardt disease, Stargardt disease |
| RS2152003876 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2152005260 | Health Risk | Likely pathogenic | — |
| RS2152005268 | Health Risk | Likely pathogenic | — |
| RS2152005308 | Health Risk | Likely pathogenic | — |
| RS2152005313 | Health Risk | Likely pathogenic | — |
| RS2152005343 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS2152005362 | Health Risk | Likely pathogenic | — |
| RS2152010856 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS2152010886 | Health Risk | Likely pathogenic | — |
| RS2152010954 | Health Risk | Likely pathogenic | — |
| RS2152011091 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS2548298343 | Health Risk | Likely pathogenic | Patterned dystrophy of the retinal pigment epithelium, Patterned dystrophy of the retinal pigment epithelium |
| RS2548300768 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS2548300805 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2548309643 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS2548309652 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS369507460 | Health Risk | Likely pathogenic | PRPH2-related disorder, Patterned dystrophy of the retinal pigment epithelium, Stargardt disease |
| RS390659 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS61755774 | Health Risk | Likely pathogenic | PRPH2-related disorder, PRPH2-related disorder |
| RS61755780 | Health Risk | Likely pathogenic | PRPH2-related disorder, Retinal dystrophy, PRPH2-related disorder |
| RS61755787 | Health Risk | Likely pathogenic | Blurred vision, Abnormal retinal pigmentation, Pigmentary retinopathy |
| RS61755789 | Health Risk | Likely pathogenic | Patterned macular dystrophy 1, PRPH2-related disorder, PRPH2-related disorder |
| RS61755790 | Health Risk | Likely pathogenic | — |
| RS61755792 | Health Risk | Likely pathogenic | Choroidal dystrophy, central areolar 2, maculopathy |
| RS61755793 | Health Risk | Likely pathogenic | Choroidal dystrophy, central areolar 2, Macular dystrophy |
| RS61755794 | Health Risk | Likely pathogenic | Retinitis pigmentosa 7, PRPH2-related disorder, Retinitis pigmentosa |
| RS61755796 | Health Risk | Likely pathogenic | Retinitis pigmentosa, PRPH2-related disorder, Retinitis pigmentosa 7 |
| RS61755801 | Health Risk | Likely pathogenic | Patterned macular dystrophy 1, Retinal dystrophy, Vitelliform macular dystrophy 2 |
| RS61755803 | Health Risk | Likely pathogenic | PRPH2-related disorder, Retinal dystrophy, Stargardt disease |
| RS61755807 | Health Risk | Likely pathogenic | Retinitis pigmentosa 7, Retinitis pigmentosa 7 |