Recombinant Human Protein XRP2 (RP2)

1. four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of X-linked retinitis pigmentosa. PMID: 28294154
2. RP2 mutation would have a moderate pathogenic effect in photoreceptors carrying the mutation, causing abnormal outer segments, with the accumulation of lipofuscin similar to RDS/PRPH2 pattern dystrophy. PMID: 26885761
3. this study identifies ARL3 as a key player in prenylated protein trafficking in rod photoreceptor cells and establishes the potential role for ARL3 dysregulation in the pathogenesis of RP2-related forms of XLRP PMID: 26936825
4. Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or retinitis pigmentosa 2 protein (RP2) genes. PMID: 27911705
5. study also reveals a role of the C-terminal domain of RP2 in maintaining the overall protein stability. PMID: 28209709
6. Three XLRP families (RP-001, RP-002, and RP-003), composed of 13 individuals, were reported in this study, and 2 different mutations were detcted We found 3 genetic variants: a novel mutation c.1591G>T in exon 14 and a novel polymorphism c.1105C>T in exon 10, resulting in p.Glu531* and p.Arg369Cys of RPGR gene, respectively, and one already known mutation c.413A>G in exon 2, resulting in a p.Glu138Gly of RP2 gene PMID: 27768226
7. We identified a novel causative mutation in RP2 from a single proband's exome sequence data analysis. This study highlights the effectiveness of the whole-exome sequencing in the genetic diagnosis of X-linked retinitis pigmentosa, over the conventional sequencing methods. PMID: 27769321
8. Three mutations were identified in the ORF15 exon of RPGR. No RP2 mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments PMID: 27323122
9. The ability of the restored RP2 protein level to reverse the observed cellular phenotypes in cells lacking RP2 indicates that translational read-through could be clinically beneficial for patients. PMID: 25292197
10. ellipsometric measurements of naRP2 demonstrated that its particular affinity for saturated phospholipids can be explained by its larger extent of insertion in this phospholipid monolayer compared to that in polyunsaturated phospholipid monolayers. PMID: 25844643
11. The methylation state of CpG sites close to the RP2 core promoter (GAAA)n repeat serves as a proxy measurement of X-chromosome inactivation in human and non-human primates. PMID: 25078280
12. A novel frameshift mutation in RP2 was detected. This mutation was located in exon 2 of the RP2 gene: a nucleotide C was inserted at 111 (c.111insC, Fig. 1A), which caused a protein translation frameshift PMID: 24479636
13. Direct sequencing of RPGR and RP2 allowed for identification of a disease-causing mutation in 21 families. Of these "adRP" families 19 had RPGR mutations, and two had RP2 mutations. PMID: 23372056
14. Based on our findings, we suggest that RPGR should be considered as a first tier gene for screening isolated males with retinal degeneration. PMID: 23150612
15. data support a role for RP2 in facilitating the membrane association and traffic of Gbeta1, potentially prior to the formation of the obligate Gbeta:Ggamma heterodimer; combined with other recent evidence, this suggests that RP2 may co-operate with Arl3 and its effectors in the cilia-associated traffic of G proteins PMID: 22072390
16. The localization of RP2 to basal bodies and cilia in photoreceptors and kidney cells has linked RP2 dysfunction with ciliopathies. PMID: 22183373
17. Data demonstrate that Importin beta2 is necessary for localization of retinitis pigmentosa 2 (RP2) to the primary cilium, and identify two distinct binding sites of RP2, which interact independently with Importin beta2. PMID: 21285245
18. An identifiable phenotype for RP2-X-linked retinitis pigmentosa aids in clinical diagnosis and targeted genetic screening. PMID: 20625056
19. We propose that RP2 regulation of Arl3 is important for maintaining Golgi cohesion, facilitating the transport and docking of vesicles and thereby carrying proteins to the base of the photoreceptor connecting cilium for transport to the outer segment. PMID: 20106869
20. Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients. PMID: 20021257
21. The mutation 358C-->T is useful in analyzing the function of RP2 protein and gene diagnosis of X-linked retinitis pigmentosa (XLRP). PMID: 11798852
22. functional overlap with tubulin-specific chaperone cofactor C PMID: 11847227
23. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. PMID: 11992260
24. Patients with RP2 mutations had, on average, lower visual acuity but similar visual field area, final dark-adapted threshold, and 30-Hz ERG amplitude compared with those with RPGR mutations PMID: 14564670
25. Mutations in the RP2 gene is associated with X-linked retinitis pigmentosa PMID: 14566651
26. The data suggest that RP2 may have previously unrecognized roles as a DNA damage response factor and 3' to 5' exonuclease. PMID: 16457815
27. The N-terminal 34 residues and beta helix domain of RP2 are required for interaction with Arl3. PMID: 16472755
28. In this cohort of XLRP families, as has happened in previous studies, RP3 also seems to be the most prevalent form of XLRP, and, based on the results, the authors propose a four-step protocol for molecular diagnosis of XLRP families. PMID: 16936086
29. Three ORF15 mutations and one RP2 mutation in five Japanese retinitis pigmentosa families. PMID: 17093403
30. The proportion of RP2-mediated XLRP in the Danish population is higher and the proportion of RPGR-ORF15 is lower than reported in other studies. PMID: 17724181
31. RP2 is an efficient GAP for Arl3, with structural features similar to other GAPs PMID: 18376416
32. A transversion (T>A) at position -9 in intron 3 of RP2 causes X-linked retinitis pigmentosa (XLRP) by altering the splicing pattern and highlights the pathogenicity of intronic variants. PMID: 19516003

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HGNC: 10274

OMIM: 300757

KEGG: hsa:6102

STRING: 9606.ENSP00000218340

UniGene: Hs.44766