RP2 Chromosome X
RP2 activator of ARL3 GTPase
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What This Gene Does
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
Associated Conditions (15)
Retinitis pigmentosa 2
Retinal dystrophy
Macular dystrophy
Cone-rod dystrophy
Retinitis pigmentosa 3
Inborn genetic diseases
Retinitis pigmentosa
Abnormality of the eye
Leber congenital amaurosis
X-linked retinitis pigmentosa
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Retinal disorder
Key Variants
RS1000426939
Conflicting classifications of pathogenicity
Retinitis pigmentosa 2, Retinitis pigmentosa 2
Health Risk
RS1201646093
Conflicting classifications of pathogenicity
Health Risk
RS1227276668
Conflicting classifications of pathogenicity
Retinitis pigmentosa 2, Retinal dystrophy, Retinitis pigmentosa 2
Health Risk
RS1556313414
Conflicting classifications of pathogenicity
Macular dystrophy, Retinal dystrophy, Cone-rod dystrophy
Health Risk
RS1602354996
Conflicting classifications of pathogenicity
Retinitis pigmentosa 3, Retinal dystrophy, Retinitis pigmentosa 2
Health Risk
RS1924908706
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS200720598
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinitis pigmentosa 2, Inborn genetic diseases
Health Risk
RS2147081192
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2519914044
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS3126141
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781936550
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS781941648
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (152)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147074689 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2519918577 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |