RP2

Summary

Gene Symbol: RP2
Description: RP2, ARL3 GTPase activating protein
Alias: DELXp11.3, NM23-H10, NME10, TBCCD2, XRP2, protein XRP2, retinitis pigmentosa 2 (X-linked recessive)
Species: human
Products:     RP2

Top Publications

  1. Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998;19:327-32 pubmed
    X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively...
  2. Yoon J, Qiu J, Cai S, Chen Y, Cheetham M, Shen B, et al. The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. Exp Cell Res. 2006;312:1323-34 pubmed
    ..Mutations in the RP2 gene are linked to the second most frequent form of X-linked retinitis pigmentosa...
  3. Vernon S, Goodchild J, Baines R. A Poly-Glutamine Region in the Drosophila VAChT Dictates Fill-Level of Cholinergic Synaptic Vesicles. Eneuro. 2019;6: pubmed publisher
    ..in both amplitude and frequency of spontaneous cholinergic miniature EPSCs (mEPSCs) recorded in the aCC and RP2 motoneurons...
  4. Yu H, Wu H, Wang W, Jolly S, Jin J, Hu C, et al. Machine Learning to Build and Validate a Model for Radiation Pneumonitis Prediction in Patients with Non-Small-Cell Lung Cancer. Clin Cancer Res. 2019;: pubmed publisher
    ..However, the risk of radiation pneumonitis grade≥2 (RP2) has not been well predicted...
  5. Long Z, Zhan Z, Guo Z, Li Y, Yao J, Ji F, et al. A novel two-dimensional liquid chromatography - Mass spectrometry method for direct drug impurity identification from HPLC eluent containing ion-pairing reagent in mobile phases. Anal Chim Acta. 2019;1049:105-114 pubmed publisher
    ..method with use of a weak anion exchange column between the 1st DLC RP column and the 2nd DLC RP column (RP1-WAX-RP2) was developed and applied to identify drug impurities from MS incompatible mobile phases containing sodium 1-..
  6. Einstein D, Patil D, Chipman J, Regan M, Davis K, Crociani C, et al. Expanded Prostate Cancer Index Composite-26 (EPIC-26) Online: Validation of an Internet-Based Instrument for Assessment of Health-Related Quality of Life After Treatment for Localized Prostate Cancer. Urology. 2019;127:53-60 pubmed publisher
    ..from two prospective longitudinal study cohorts of PCa patients undergoing local therapy: PROST-QA, and PROSTQA-RP2. Subjects were randomized to either an "Internet-first" or "phone-first" group...
  7. Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, et al. X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. Int J Mol Sci. 2019;20: pubmed publisher
    ..unrelated families (13 male patients, 15 female carriers) harboring pathogenic mutations in RPGR or RP2 were included, and comprehensive ophthalmic examinations were performed...
  8. Krayenbuehl J, Zamburlini M, Ghandour S, Pachoud M, Tanadini Lang S, Tol J, et al. Planning comparison of five automated treatment planning solutions for locally advanced head and neck cancer. Radiat Oncol. 2018;13:170 pubmed publisher
    ..7 (RP2) combined with scripting for automated setup of fields with HNC model from University Hospital B; 5) Raystation ..
  9. Meng Y, Yang H, Wang W, Tang X, Jiang C, Shen Y, et al. Excluding PTV from lung volume may better predict radiation pneumonitis for intensity modulated radiation therapy in lung cancer patients. Radiat Oncol. 2019;14:7 pubmed publisher
    ..The primary endpoint was acute grade 2 or higher RP (RP2). Correlation between RP2 and dose parameters were analyzed by logistic regression...

More Information

Publications102 found, 100 shown here

  1. Bhat K, Gaziova I, Katipalla S. Neuralized mediates asymmetric division of neural precursors by two distinct and sequential events: promoting asymmetric localization of Numb and enhancing activation of Notch-signaling. Dev Biol. 2011;351:186-98 pubmed publisher
    ..In the typical GMC-1→RP2/sib lineage, we found that loss of Neur activity causes symmetric division of GMC-1 into two RP2s...
  2. Wang X, Huang M, Yang F, Sun H, Zhou X, Guo Y, et al. Rapeseed polysaccharides as prebiotics on growth and acidifying activity of probiotics in vitro. Carbohydr Polym. 2015;125:232-40 pubmed publisher
    ..After preliminary treatments, two fractions of polysaccharides (RP1 and RP2) were obtained after purification by DEAE-cellulose and Sephadex G-100...
  3. Hwang H, Ryu M, Park C, Ahn J, Park H, Choi C, et al. High sensitive and selective electrochemical biosensor: Label-free detection of human norovirus using affinity peptide as molecular binder. Biosens Bioelectron. 2017;87:164-170 pubmed publisher
    ..8nM for recombinant noroviral capsid proteins (rP2) and 7...
  4. Sung P, Danial P. Gender difference of shoulder-pelvic kinematic integration for trunk rotation directions in healthy older adults. Clin Biomech (Bristol, Avon). 2017;50:56-62 pubmed publisher
    ..performed trunk axial rotation from the left to the right direction (RP1) and then returned to the left side (RP2), three times repeatedly in standing. The measurements included shoulder and pelvic ROM, RP1, and RP2...
  5. Kang H, Bai N, Mei S, Kong X. [Genetic and prenatal diagnosis of a retinitis pigmentosa pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:184-187 pubmed publisher
    ..The proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome...
  6. Nasution A, Syed Sulaiman S, Shafie A. Cost-Effectiveness of Clinical Pharmacy Education on Infection Management among Patients with Chronic Kidney Disease in an Indonesian Hospital. Value Health Reg Issues. 2013;2:43-47 pubmed publisher
    ..93 and Rp7,871,822.27, respectively. ICERs were Rp2,045,341.22 for CKD stage 4 and Rp1,767,585.60 for CKD stage 5...
  7. Yegya Raman N, Kim S, Deek M, Li D, Gupta A, Bond L, et al. Daily Image Guidance With Cone Beam Computed Tomography May Reduce Radiation Pneumonitis in Unresectable Non-Small Cell Lung Cancer. Int J Radiat Oncol Biol Phys. 2018;101:1104-1112 pubmed publisher
    ..The primary endpoint was time to grade ≥2 radiation pneumonitis (RP2), estimated with the cumulative incidence method, compared with Gray's test, and modeled with the Fine-Gray method...
  8. Hanke Gogokhia C, Frederick J, Zhang H, Baehr W. Binary Function of ARL3-GTP Revealed by Gene Knockouts. Adv Exp Med Biol. 2018;1074:317-325 pubmed publisher
    ..The activity of ARL3 is regulated by a GEF (ARL13b) and a GAP (RP2). In a mouse germline knockout of RP2, ARL3-GTP is abundant as its intrinsic GTPase activity is extremely low...
  9. Li W, Zhang X, DU Y, Li J, Jiang X. [Impacts of DES on the expressions of related genes in the gubernaculums testis of newborn mice]. Zhonghua Nan Ke Xue. 2017;23:583-588 pubmed
    ..825, P <0.05), but remarkable decreases in those of AR, PCNA and ACTα1 (RA2 = 0.713, RP2 = 0.946, RT2 = 0.960, P <0.01), all in a dose-dependent manner...
  10. Ke C, Zhao C, Rensing C, Yang S, Zhang Y. Characterization of recombinant E. coli expressing arsR from Rhodopseudomonas palustris CGA009 that displays highly selective arsenic adsorption. Appl Microbiol Biotechnol. 2018;102:6247-6255 pubmed publisher
    ..The results showed that E. coli (arsRRP2) displayed robust As(III) resistance, and its growth inhibition rate was only 2.9% when exposed to 3...
  11. Berenguer A, Fernandes A, Oliveira S, Rodrigues M, Ornelas P, Romeira D, et al. Genetic polymorphisms and asthma: findings from a case-control study in the Madeira island population. Biol Res. 2014;47:40 pubmed publisher
    ..IL4-590*CT/TT and IL4-RP2*253183/183183 were found to predict the risk (2-fold) and severity (3 to 4-fold) of asthma and were associated with ..
  12. Mohammadoo Khorasani M, Salimi S, Tabatabai E, Sandoughi M, Zakeri Z, Farajian Mashhadi F. Interleukin-1? (IL-1?) & IL-4 gene polymorphisms in patients with systemic lupus erythematosus (SLE) & their association with susceptibility to SLE. Indian J Med Res. 2016;143:591-6 pubmed publisher
    ..01) lower in SLE patients than controls. Moreover, the frequencies of RP1/RP2 genotype and RP2 allele of IL-4 VNTR polymorphism were significantly (P<0.05) higher in the SLE patients...
  13. Zhang Y, Xia Z, Yan L, Liu S. Prediction of placental barrier permeability: a model based on partial least squares variable selection procedure. Molecules. 2015;20:8270-86 pubmed publisher
    ..9064, rmse=0.09, q2=0.7323, rp2=0.7656, rmsp=0.14)...
  14. Branham K, Guru A, Kozak I, Biswas P, Othman M, Kishaba K, et al. Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Adv Exp Med Biol. 2018;1074:229-236 pubmed publisher
    ..and haplotype analysis localized the disease interval to a 70 Mb region on the X chromosome that encompassed RP2 and RPGR in M1186 ...
  15. Dong T, Lin L, He Y, Nie P, Qu F, Xiao S. Density Functional Theory Analysis of Deltamethrin and Its Determination in Strawberry by Surface Enhanced Raman Spectroscopy. Molecules. 2018;23: pubmed publisher
    ..The prediction accuracy of deltamethrin in strawberry (Rp2 = 0.93, RMSEp = 4.66 mg/L, RPD = 3...
  16. Zhang H, Hanke Gogokhia C, Jiang L, Li X, Wang P, Gerstner C, et al. Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. FASEB J. 2015;29:932-42 pubmed publisher
    The retinitis pigmentosa 2 polypeptide (RP2) functions as a GTPase-activating protein (GAP) for ARL3 (Arf-like protein 3), a small GTPase...
  17. Miranda Furtado C, Luchiari H, Chielli Pedroso D, Kogure G, Caetano L, Santana B, et al. Skewed X-chromosome inactivation and shorter telomeres associate with idiopathic premature ovarian insufficiency. Fertil Steril. 2018;110:476-485.e1 pubmed publisher
    ..polymerase chain reaction, XCI was measured using the Human Androgen Receptor and X-linked retinitis pigmentosa 2 (RP2) methylation assays...
  18. Chassine T, Bocquet B, Daien V, Avila Fernandez A, Ayuso C, Collin R, et al. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Br J Ophthalmol. 2015;99:1360-5 pubmed publisher
    ..with RP1 mutations, 25 had autosomal dominant RP (adRP) with RP1 mutation, 8 and 33 had X-linked RP (xlRP) with RP2 and RPGR mutations, respectively, 198 and 93 had Usher syndrome and arRP without RP1 mutations, respectively...
  19. Li X, Wang F, Xu B, Yu X, Yang Y, Zhang L, et al. Determination of the free and total concentrations of vancomycin by two-dimensional liquid chromatography and its application in elderly patients. J Chromatogr B Analyt Technol Biomed Life Sci. 2014;969:181-9 pubmed publisher
    ..The 2D-LC system, which exhibited a strong capacity for inhibiting interference, comprised a unique RP1-IEX-RP2 column system and an "Assistant Flow" configuration...
  20. Vlatković N, Chang S, Boyd M. Janus-faces of NME-oncoprotein interactions. Naunyn Schmiedebergs Arch Pharmacol. 2015;388:175-87 pubmed publisher
    ..diphosphate kinase activity with NMEs 1-4 encoding nucleoside diphosphate kinases (NDPKs) and NMEs 5-9 plus RP2 displaying little if any NDPK activity...
  21. Lyraki R, Lokaj M, Soares D, Little A, Vermeren M, Marsh J, et al. Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. J Cell Sci. 2018;131: pubmed publisher
    Retinitis pigmentosa 2 (RP2) is the causative gene for a form of X-linked retinal degeneration...
  22. Comander J, Weigel DiFranco C, Sandberg M, Berson E. Visual Function in Carriers of X-Linked Retinitis Pigmentosa. Ophthalmology. 2015;122:1899-906 pubmed publisher
    ..Half of the carriers were from RPGR- or RP2-genotyped families. Retrospective medical records review...
  23. Boisselier Ã, Demers Ã, Cantin L, Salesse C. How to gather useful and valuable information from protein binding measurements using Langmuir lipid monolayers. Adv Colloid Interface Sci. 2017;243:60-76 pubmed publisher
    ..The protein Retinitis pigmentosa 2 (RP2) has been used throughout this review to illustrate the influence of these experimental parameters on the data ..
  24. Liu F, Chen J, Yu S, Raghupathy R, Liu X, Qin Y, et al. Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. Hum Mol Genet. 2015;24:4648-59 pubmed publisher
    ..Nearly 85% of XLRP cases are caused by mutations in the X-linked retinitis pigmentosa 2 (RP2) and RPGR...
  25. Soltani Nejad M, Khatami M, Shahidi Bonjar G. Extracellular synthesis gold nanotriangles using biomass of Streptomyces microflavus. IET Nanobiotechnol. 2016;10:33-8 pubmed publisher
    ..In this regard, 16S rRNA gene of the isolate was amplified using universal bacterial primers FD1 and RP2. The PCR products were purified and sequenced...
  26. Mendonça M, Peraçolli T, Silva Vergara M, Ribeiro S, Oliveira R, Mendes R, et al. High interleukin-4 expression and interleukin-4 gene polymorphisms are associated with susceptibility to human paracoccidioidomycosis. Mem Inst Oswaldo Cruz. 2015;110:781-5 pubmed publisher
    ..A significant correlation was observed between the RP2/RP2 intron-3 genotype and infection with Paracoccidioides sp.(p = 0...
  27. Ríos Fránquez F, González Bautista E, Ponce Noyola T, Ramos Valdivia A, Poggi Varaldo H, Garcia Mena J, et al. Expression of a codon-optimized ?-glucosidase from Cellulomonas flavigena PR-22 in Saccharomyces cerevisiae for bioethanol production from cellobiose. Arch Microbiol. 2017;199:605-611 pubmed publisher
    ..cerevisiae RP2-BGL transformant strain growing in cellobiose (20 g L-1) as the sole carbon source for 48 h...
  28. Mookherjee S, Hiriyanna S, Kaneshiro K, Li L, Li Y, Li W, et al. Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. Hum Mol Genet. 2015;24:6446-58 pubmed publisher
    ..blinding disorders, resulting from progressive photoreceptor dysfunction primarily caused by mutations in RPGR or RP2 gene...
  29. Yoshihara T, Murayama S, Tobita S. Ratiometric Molecular Probes Based on Dual Emission of a Blue Fluorescent Coumarin and a Red Phosphorescent Cationic Iridium(III) Complex for Intracellular Oxygen Sensing. Sensors (Basel). 2015;15:13503-21 pubmed publisher
    Ratiometric molecular probes RP1 and RP2 consisting of a blue fluorescent coumarin and a red phosphorescent cationic iridium complex connected by a tetra- or octaproline linker, respectively, were designed and synthesized for sensing ..
  30. Yousry S, Sedky Y, Sobieh A. Association of IL-4 (intron 3) and IL-10 (-1082) gene polymorphisms with risk of mitral valve disease in children with rheumatic heart disease. Cardiol Young. 2016;26:1290-6 pubmed publisher
    ..valve disease subgroups showed that cases with mitral valve disease have significantly higher frequency of the RP2 allele of IL-4 (intron 3) (p=0.03; OR 2.98, 95% CI 1.93-6.15) and the G allele of IL-10 (-1082) (p=0.04; OR 2...
  31. Paleari R, Ceriotti F, Harteveld C, Strollo M, Bakker Verweij G, ter Huurne J, et al. Calibration by commutable control materials is able to reduce inter-method differences of current high-performance methods for HbA2. Clin Chim Acta. 2018;477:60-65 pubmed publisher
    ..Recalibration of all methods by RP1 and RP2 materials was able to reduce the overall variability from 6.8% to 3.4% at HbA2?3.0% and from 6.7% to 3...
  32. Leber A, Everhart K, Daly J, Hopper A, Harrington A, Schreckenberger P, et al. Multicenter Evaluation of BioFire FilmArray Respiratory Panel 2 for Detection of Viruses and Bacteria in Nasopharyngeal Swab Samples. J Clin Microbiol. 2018;56: pubmed publisher
    The FilmArray Respiratory Panel 2 (RP2) is a multiplex in vitro diagnostic test for the simultaneous and rapid (∼45-min) detection of 22 pathogens directly from nasopharyngeal swab (NPS) samples...
  33. Desvignes T, Nguyen T, Chesnel F, Bouleau A, Fauvel C, Bobe J. X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. Biol Reprod. 2015;93:42 pubmed publisher
    Retinitis pigmentosa 2 (RP2) gene is responsible for up to 20% of X-linked retinitis pigmentosa, a severe heterogeneous genetic disorder resulting in progressive retinal degeneration in humans...
  34. Monzon J, Hay A, McDonald G, Pater J, Meyer R, Chen E, et al. Correlation of single arm versus randomised phase 2 oncology trial characteristics with phase 3 outcome. Eur J Cancer. 2015;51:2501-7 pubmed publisher
    The primary aim of this study was to determine whether randomised phase 2 (RP2) trials predict phase 3 trial outcome better than single arm phase 2 (SAP2) studies...
  35. Hubin E, Fay A, Xu C, Bean J, Saecker R, Glickman M, et al. Structure and function of the mycobacterial transcription initiation complex with the essential regulator RbpA. elife. 2017;6: pubmed publisher
    ..open complex (RPo) formation establish that RbpA and CarD cooperatively stimulate formation of an intermediate (RP2) leading to RPo; formation of RP2 is likely a bottleneck step at the majority of mycobacterial promoters...
  36. Li L, Rao K, Zheng Le Y, Hurd T, Lillo C, Khanna H. Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. Cytoskeleton (Hoboken). 2015;72:447-54 pubmed publisher
    ..cone photoreceptors, which is a cone-autonomous effect of the genetic perturbation of the retinitis pigmentosa 2 (Rp2) gene mutated in human X-linked RP...
  37. Luo Y, El Naqa I, McShan D, Ray D, Lohse I, Matuszak M, et al. Unraveling biophysical interactions of radiation pneumonitis in non-small-cell lung cancer via Bayesian network analysis. Radiother Oncol. 2017;123:85-92 pubmed publisher
    In non-small-cell lung cancer radiotherapy, radiation pneumonitis≥grade 2 (RP2) depends on patients' dosimetric, clinical, biological and genomic characteristics...
  38. Bader I, Brandau O, Achatz H, Apfelstedt Sylla E, Hergersberg M, Lorenz B, et al. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci. 2003;44:1458-63 pubmed
    A comprehensive screening was conducted for RP2 and retinitis pigmentosa GTPase regulator (RPGR) gene mutations including RPGR exon ORF15 in 58 index patients...
  39. Thiselton D, Hampson R, Nayudu M, Van Maldergem L, Wolf M, Saha B, et al. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 1996;6:1093-102 pubmed
    ..We now report a defined genetic localization for the RP2 locus to a 5-cM interval in Xp11.3-11.23...
  40. Evans R, Schwarz N, Nagel Wolfrum K, Wolfrum U, Hardcastle A, Cheetham M. The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet. 2010;19:1358-67 pubmed publisher
    ..Here, we show that the retinitis pigmentosa protein RP2, which is a GTPase activating protein (GAP) for Arl3, localizes to the ciliary apparatus, namely the basal body and ..
  41. Lokaj M, Kösling S, Koerner C, Lange S, van Beersum S, van Reeuwijk J, et al. The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. Structure. 2015;23:2122-32 pubmed publisher
    ..We thus speculate on a regulatory mechanism whereby BARTL1 aids the presentation of active Arl3 to its GTPase-activating protein RP2 or hinders Arl3 membrane binding in the area of the transition zone.
  42. Clayton J, Wright A, Jay M, McKeown C, Dempster M, Jay B, et al. Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation. Hum Genet. 1986;74:168-71 pubmed
    ..In families in which no recombination has been observed, the mean and variance of risk are sufficiently small for the clinical use of this probe to be acceptable to many. ..
  43. Schwarz N, Hardcastle A, Cheetham M. The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function. Adv Exp Med Biol. 2012;723:527-32 pubmed publisher
  44. Hua S, Chen C, Han P. Design of a simple non-destructive detection system using P-wave lasers for determining the soluble solids content of apples. Appl Opt. 2017;56:6235-6243 pubmed publisher
    ..the specified wavelengths of the SSC chemical bonds (880, 940, 980, and 1064 nm), the prediction of correlation (rp2) and the root-mean-square error for prediction (RMSEP) of the SSC are determined via partial least square ..
  45. Liu L, Wei Y, Chen H. [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families]. Zhonghua Yi Xue Za Zhi. 2001;81:71-2 pubmed
    To detect mutations of the RP2 gene in two Chinese families with X-linked retinitis pigmentosa (XLRP)...
  46. Jayasundera T, Branham K, Othman M, Rhoades W, Karoukis A, Khanna H, et al. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010;128:915-23 pubmed publisher
    To assess the phenotype of patients with X-linked retinitis pigmentosa (XLRP) with RP2 mutations and to correlate the findings with their genotype. Six hundred eleven patients with RP were screened for RP2 mutations...
  47. Haddad M, Khabour O, Abuzaideh K, Shihadeh W. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa. Genet Mol Res. 2016;15: pubmed publisher
    ..with XLRP have previously been cloned: retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 (RP2). We sought to identify mutations in these genes in Jordanian families suffering from this disease...
  48. Jaiswal M, Fansa E, Kösling S, Mejuch T, Waldmann H, Wittinghofer A. Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3. J Biol Chem. 2016;291:20766-78 pubmed publisher
    ..We thus analyzed the binding strength of N-terminal myristoylated cargo peptides (GNAT1, NPHP3, Cystin1, RP2, and Src) to Unc119a and Unc119b proteins...
  49. Veltel S, Gasper R, Eisenacher E, Wittinghofer A. The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. Nat Struct Mol Biol. 2008;15:373-80 pubmed publisher
    The retinitis pigmentosa 2 (RP2) gene is responsible for a particular variant of X chromosome-linked eye disease. Previously, RP2 was shown to bind the GTP form of the small G protein Arf-like 3 (Arl3), thus qualifying as an effector...
  50. Wada Y, Nakazawa M, Abe T, Tamai M. A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:290-3 pubmed
    ..in a Japanese family with X-linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene...
  51. Sharon D, Bruns G, McGee T, Sandberg M, Berson E, Dryja T. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci. 2000;41:2712-21 pubmed
    To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2...
  52. Kühnel K, Veltel S, Schlichting I, Wittinghofer A. Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. Structure. 2006;14:367-78 pubmed
    The crystal structure of human retinitis pigmentosa 2 protein (RP2) was solved to 2.1 angstroms resolution. It consists of an N-terminal beta helix and a C-terminal ferredoxin-like alpha/beta domain...
  53. Garcia Hoyos M, Garcia Sandoval B, Cantalapiedra D, Riveiro R, Lorda Sanchez I, Trujillo Tiebas M, et al. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006;47:3777-82 pubmed
    ..Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned...
  54. Hurd T, Fan S, Margolis B. Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. J Cell Sci. 2011;124:718-26 pubmed publisher
    ..The gene encoding the retinitis pigmentosa 2 protein (RP2) is mutated in X-linked retinitis pigmentosa...
  55. Liu F, Qin Y, Yu S, Soares D, Yang L, Weng J, et al. Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. J Biol Chem. 2017;292:6225-6239 pubmed publisher
    Mutations in retinitis pigmentosa 2 (RP2) account for 10-20% of X-linked retinitis pigmentosa (RP) cases. The encoded RP2 protein is implicated in ciliary trafficking of myristoylated and prenylated proteins in photoreceptor cells...
  56. Wright Z, Singh R, Alpino R, Goldberg A, Sokolov M, Ramamurthy V. ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment. Hum Mol Genet. 2016;25:2031-2044 pubmed
    ..retinitis pigmentosa (XLRP) resulting from mutations in the ARL3 GTPase activating protein, retinitis pigmentosa 2 (RP2)...
  57. Lim H, Park Y, Lee J, Taek Lim H. Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa. Can J Ophthalmol. 2016;51:326-330 pubmed publisher
    ..Analysis of exome sequence data identified a novel frameshift mutation in RP2 gene resulting in a premature stop codon (c.665delC, p.Pro222fsTer237)...
  58. Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2007;48:4012-8 pubmed
    ..4 million inhabitants). RPGR and RP2 were screened for mutations in 34 families, the medical files of the patients were scrutinized, and phenotype data ..
  59. Arnold S, Chansky K, Leggas M, Thompson M, Villano J, Hamm J, et al. Phase 1b trial of proteasome inhibitor carfilzomib with irinotecan in lung cancer and other irinotecan-sensitive malignancies that have progressed on prior therapy (Onyx IST reference number: CAR-IST-553). Invest New Drugs. 2017;35:608-615 pubmed publisher
    ..The RP2 dose was carfilzomib 20/36 mg/m2 (given on Days 1, 2, 8, 9, 15, and 16) and irinotecan 125 mg/m2 (Days ..
  60. Bartolini F, Bhamidipati A, Thomas S, Schwahn U, Lewis S, Cowan N. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. J Biol Chem. 2002;277:14629-34 pubmed
    ..The retinitis pigmentosa 2 protein (RP2) is similar in sequence to the tubulin-specific chaperone cofactor C...
  61. Breuer D, Yashar B, Filippova E, Hiriyanna S, Lyons R, Mears A, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002;70:1545-54 pubmed
    ..At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%-20% and 70%-90% of genetically identifiable disease, respectively...
  62. Demers Ã, Boisselier Ã, Horchani H, Blaudez D, Calvez P, Cantin L, et al. Lipid Selectivity, Orientation, and Extent of Membrane Binding of Nonacylated RP2. Biochemistry. 2015;54:2560-70 pubmed publisher
    Retinitis pigmentosa 2 (RP2) is an ubiquitary protein of 350 residues. The N-terminus of RP2 contains putative sites of myristoylation and palmitoylation. The dually acylated protein is predominantly localized to the plasma membrane...
  63. Bhattacharya S, Wright A, Clayton J, Price W, Phillips C, McKeown C, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984;309:253-5 pubmed
    ..This probe is potentially useful for carrier detection and early diagnosis in about 40% of cases, provided that genetic heterogeneity can be excluded by analysis of further families. ..
  64. Thiselton D, Zito I, Plant C, Jay M, Hodgson S, Bird A, et al. Novel frameshift mutations in the RP2 gene and polymorphic variants. Hum Mutat. 2000;15:580 pubmed
    Mutations in the RP2 gene located on Xp11.23 are associated with X-linked retinitis pigmentosa (XLRP), a severe form of progressive retinal degeneration which leads to complete loss of vision in affected males...
  65. Desvignes T, Pontarotti P, Fauvel C, Bobe J. Nme protein family evolutionary history, a vertebrate perspective. BMC Evol Biol. 2009;9:256 pubmed publisher
    ..The position of Nme10 is in contrast more debatable due to its very specific evolutionary history...
  66. Perez Carro R, Corton M, Sánchez Navarro I, Zurita O, Sanchez Bolivar N, Sánchez Alcudia R, et al. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:19531 pubmed publisher
    ..Finally seven out of 27 families, displaying mutations in the ABCA4, RP1, RP2 and USH2A genes, could be genetically or clinically reclassified...
  67. Machado F, Machado F, Faria M, Lovatel V, Alves da Silva A, Radic C, et al. 5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation. PLoS ONE. 2014;9:e103714 pubmed publisher
    ..an extragenic tandem GAAA repeat 230-bp from the landmark CpG island of the human X-linked retinitis pigmentosa 2 RP2 promoter whose 5meCpG status correlates with XCI...
  68. Misky D, Guillaumie T, Baudoin C, Bocquet B, Beltran M, Kaplan J, et al. Pattern dystrophy in a female carrier of RP2 mutation. Ophthalmic Genet. 2016;37:453-455 pubmed
  69. Churchill J, Bowne S, Sullivan L, Lewis R, Wheaton D, Birch D, et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54:1411-6 pubmed publisher
    ..mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene...
  70. Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, et al. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. Eur J Ophthalmol. 2017;27:240-248 pubmed publisher
    To identify novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations...
  71. Yorke E, Jackson A, Kuo L, Ojo A, Panchoo K, Adusumilli P, et al. Heart Dosimetry is Correlated With Risk of Radiation Pneumonitis After Lung-Sparing Hemithoracic Pleural Intensity Modulated Radiation Therapy for Malignant Pleural Mesothelioma. Int J Radiat Oncol Biol Phys. 2017;99:61-69 pubmed publisher
    ..0) and clinical and demographic information. Correlations analyzed with the Cox model were grade ?2 RP (RP2+) and grade ?3 RP (RP3+) with clinical variables, with volumes of planning target volume (PTV) and PTV-lung overlap ..
  72. Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. Curr Eye Res. 2010;35:73-9 pubmed publisher
    To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP). DNA fragments-encompassing coding exons and adjacent intronic regions of RPGR and RP2-were analyzed by cycle sequencing...
  73. Mears A, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, et al. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1999;64:897-900 pubmed
  74. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007;28:81-91 pubmed
    ..pigmentosa (RP) (XLRP) account for 10 to 20% of families with RP and are mainly accounted for by mutations in the RP2 or RP GTPase regulator (RPGR) genes...
  75. Jin Z, Liu X, Hayakawa M, Murakami A, Nao I N. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. Mol Vis. 2006;12:1167-74 pubmed
    To identify mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and to determine the association between the phenotypic changes in patients/carriers and the mutations...
  76. Sharon D, Sandberg M, Rabe V, Stillberger M, Dryja T, Berson E. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73:1131-46 pubmed
    We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease...
  77. Schwarz N, Lane A, Jovanovic K, Parfitt D, Aguilà M, Thompson C, et al. Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. Hum Mol Genet. 2017;26:2480-2492 pubmed publisher
    ..partners of the small GTPase Arl3 and its regulatory GTPase activating protein (GAP) Retinitis Pigmentosa 2 (RP2)...
  78. Grayson C, Bartolini F, Chapple J, Willison K, Bhamidipati A, Lewis S, et al. Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet. 2002;11:3065-74 pubmed
    Mutations in the retinitis pigmentosa 2 (RP2) gene cause a severe form of X-linked retinal degeneration...
  79. Schwarz N, Carr A, Lane A, Moeller F, Chen L, Aguilà M, et al. Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet. 2015;24:972-86 pubmed publisher
    Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are currently available to restore RP2 function...
  80. Hardcastle A, Thiselton D, Van Maldergem L, Saha B, Jay M, Plant C, et al. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet. 1999;64:1210-5 pubmed
  81. Lukovic D, Bolinches Amorós A, Artero Castro A, Pascual B, Carballo M, Hernan I, et al. Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene. Stem Cell Res. 2017;21:23-25 pubmed publisher
    The human iPSC cell line, RP2-FiPS4F1 (RCPFi001-A), derived from dermal fibroblasts from the patient with retinitis pigmentosa caused by the mutation of the gene PRPF8, was generated by non-integrative reprogramming technology using OCT3/..
  82. Miano M, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, et al. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum Mutat. 2001;18:109-19 pubmed
    ..So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients...
  83. De Lin W, Wang C, Chou I, Tsai F. A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. Acta Ophthalmol. 2014;92:e161-2 pubmed publisher
  84. Andreasson S, Breuer D, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, et al. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. Ophthalmic Genet. 2003;24:215-23 pubmed
    To describe new disease-causing RP2 and RPGR-ORF15 mutations and their corresponding clinical phenotypes in Swedish families with X-linked retinitis pigmentosa (XLRP) and to establish genotype-phenotype correlations by studying the ..
  85. Tseng H, Luo Y, Cui S, Chien J, Ten Haken R, Naqa I. Deep reinforcement learning for automated radiation adaptation in lung cancer. Med Phys. 2017;: pubmed publisher
    ..based on historical treatment plans for developing automated radiation adaptation protocols for nonsmall cell lung cancer (NSCLC) patients that aim to maximize tumor local control at reduced rates of radiation pneumonitis grade 2 (RP2).
  86. Dankai W, Pongpom M, Vanittanakom N. An investigation into the possible regulation of the expression of genes by yapA in Talaromyces marneffei using the qRT- PCR method. Med Mycol. 2017;: pubmed publisher
    ..regulation of the five polyketide synthase (pks) genes, pks3 (polyketide synthase), rp1 (transcription activator), rp2 (?-subunit fatty acid synthase), rp3 (?-subunit fatty acid synthase), and rp4 (oxidoreductase) in the mould phase...
  87. Rosenberg T, Schwahn U, Feil S, Berger W. Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). Ophthalmic Genet. 1999;20:161-72 pubmed
    ..correlations between the putative mutations and the clinical characteristics in X-linked retinitis pigmentosa, RP2. A retrospective, descriptive clinical study...
  88. Chapple J, Hardcastle A, Grayson C, Spackman L, Willison K, Cheetham M. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum Mol Genet. 2000;9:1919-26 pubmed
    The X-linked retinitis pigmentosa (XLRP) gene, RP2, codes for a novel 350 amino acid protein of unknown function. We have identified putative sites for N-terminal acyl modification by myristoylation and palmitoylation in the RP2 protein...
  89. Harmer J, Qi X, Toniolo G, Patel A, Shaw H, Benson F, et al. Variation in Basal Body Localisation and Targeting of Trypanosome RP2 and FOR20 Proteins. Protist. 2017;168:452-466 pubmed publisher
    ..cruzi, which lacks any extension, localises to pro- and mature basal bodies when expressed in T. brucei. This identifies unexpected variation in FOR20 architecture that is presently unique to one clade of trypanosomatids. ..
  90. Branham K, Othman M, Brumm M, Karoukis A, Atmaca Sonmez P, Yashar B, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci. 2012;53:8232-7 pubmed publisher
    ..RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. Simplex males were defined as patients with no known affected family members...
  91. Lyraki R, Megaw R, Hurd T. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochem Soc Trans. 2016;44:1235-1244 pubmed
    ..The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct ..
  92. Pomares E, Riera M, Castro Navarro J, Andrés Gutiérrez A, Gonzalez Duarte R, Marfany G. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2009;50:5107-14 pubmed publisher
    ..Of the two major XLRP genes, RPGR was analyzed by SNP cosegregation and RP2 was directly screened for mutations...