| 1 | ARL3, KIF17, KIF7, RP2
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| Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
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| Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME.
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| Hum Mol Genet 26(13):2480-2492. doi: 10.1093/hmg/ddx143.
2017
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| 2 | ARL3, GNB1, RP2
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| The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
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| Schwarz N, Novoselova TV, Wait R, Hardcastle AJ, Cheetham ME.
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| Hum Mol Genet 21(4):863-73. doi: 10.1093/hmg/ddr520. Epub 2011 Nov 9.
2012
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| 3 | RP2
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| Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.
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| Hurd TW, Fan S, Margolis BL.
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| J Cell Sci. 124(Pt 5):718-26. 2011
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| 4 | RP2
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| The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
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| Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME.
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| Hum Mol Genet 19(7):1358-67. Epub 2010 Jan 27. 2010
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| 5 | RP2
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| Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.
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| Holopainen JM, Cheng CL, Molday LL, Johal G, Coleman J, Dyka F, Hii T, Ahn J, Molday RS.
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| Biochemistry. 49(35):7439-47. 2010
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| 6 | PKD2, RP2
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| The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
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| Hurd T, Zhou W, Jenkins P, Liu CJ, Swaroop A, Khanna H, Martens J, Hildebrandt F, Margolis B.
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| Hum Mol Genet 19(22):4330-44. Epub 2010 Aug 20.
2010
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| 7 | ARL3, RP2
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| The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
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| Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME.
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| Hum Mol Genet 19(7):1358-67. doi: 10.1093/hmg/ddq012. Epub 2010 Jan 27.
2010
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| 8 | RP2, ARL3
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| The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
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| Veltel S, Gasper R, Eisenacher E, Wittinghofer A.
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| Nat Struct Mol Biol 15(4):373-80. Epub 2008 Mar 23. 2008
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| 9 | RP2, RP3, RPGR
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| Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
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| Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.
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| Hum Mutat 28(1):81-91. 2007
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| 10 | RP2, RPGR
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| Mutational Screening of the RP2 and RPGR Genes in Spanish Families with X-Linked Retinitis Pigmentosa.
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| Garcia-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sanchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
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| Invest Ophthalmol Vis Sci 47(9):3777-82. 2006
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| 11 | RP2
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| The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.
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| Yoon JH, Qiu J, Cai S, Chen Y, Cheetham ME, Shen B, Pfeifer GP.
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| Exp Cell Res 312(8):1323-34. Epub 2006 Feb 2. 2006
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| 12 | RP2
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| A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred.
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| Zhang L, Wang T, Wright AF, Suri M, Schwartz CE, Stevenson RE, Valle D.
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| Am J Med Genet A 140(4):349-57.
2006
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| 13 | RP2, RPGR
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| RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa.
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| Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
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| Am J Hum Genet 73(6):1131-46. Epub 2003 Oct 16. 2003
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| 14 | RP2, TBCC
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| Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.
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| Bartolini F, Bhamidipati A, Thomas S, Schwahn U, Lewis SA, Cowan NJ.
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| J Biol Chem 277(17):14629-34. 2002
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| 15 | ARL3, RP2, TBCC
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| Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
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| Grayson C, Bartolini F, Chapple JP, Willison KR, Bhamidipati A, Lewis SA, Luthert PJ, Hardcastle AJ, Cowan NJ, Cheetham ME.
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| Hum Mol Genet 11(24):3065-74. 2002
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| 16 | RP2
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| Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
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| Schwahn U, Paland N, Techritz S, Lenzner S, Berger W.
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| Hum Mol Genet 10(11):1177-83. 2001
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| 17 | RP2
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| Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
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| Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millan JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.
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| Hum Mutat 18(2):109-19. 2001
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| 18 | RP2
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| A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
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| Wada Y, Nakazawa M, Abe T, Tamai M.
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| Invest Ophthalmol Vis Sci 41(1):290-3. 2000
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| 19 | RP2
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| 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.
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| Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME.
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| Hum Mol Genet 9(13):1919-26. 2000
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| 20 | RP2
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| Mutations in the RP2 Gene Cause Disease in 10% of Families with Familial X-Linked Retinitis Pigmentosa Assessed in This Study.
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| Hardcastle AJ, et al.
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| Am J Hum Genet 64(4):1210-1215. No abstract available 1999
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| 21 | RP2
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| Positional cloning of the gene for X-linked retinitis pigmentosa 2.
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| Schwahn U, et al.
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| Nat Genet 19 : 327-332. 1998
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| 22 | CDK16, CSNB1A, CSNB2A, RP2, USP11
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| UHX1 and PCTK1 : precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.
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| Brandau O, et al.
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| Eur J Hum Genet 6 : 459-466. 1998
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| 23 | RP2, RPL10, RPL10A, RPL11, RPL12, RPL13A, RPL15, RPL17, RPL18A, RPL23, RPL24, RPL26, RPL29, RPL3, RPL34, RPL36A, RPL38, RPL4, UBA52, RPL41, RPL7, RPL8, RPLP0, RPS10, RPS11, RPS12, RPS13, RPS14, RPS15, RPS15A, RPS16, RPS17, RPS18, RPS2, RPS20, RPS21, RPS23, RPS24, RPS25, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS3A, RPS4L, RPS5, RPS9
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| A map of 75 human ribosomal protein genes.
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| Kenmochi N, Kawaguchi T, Rozen S, Davis E, Goodman N, Hudson TJ, Tanaka T, Page DC.
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| Genome Res 8(5):509-23. 1998
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| 24 | CSNB1A, RP2
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| Genetic and physical mapping of X-linked retinitis pigmentosa 2 and a new location for CSNBX (CSNB4) distinct from previously reported XLRP loci. (abstr)
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| Hardcastle AJ, et al.
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| Invest Ophthalmol Vis Sci 38 : 5341. 1997
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| 25 | TBC1D25, RP2
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| 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.
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| Thiselton DL, et al.
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| Genome Res 6 : 1093-1102. 1996
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| 26 | RP2, TBCA, TBCD, TBCE
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| Pathway leading to correctly folded beta-tubulin.
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| Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ.
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| Cell 86(2):287-96. 1996
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| 27 | RP2, TBCA, TBCC, TBCE
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| Chaperonin-mediated folding of actin and tubulin.
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| Lewis SA, Tian G, Vainberg IE, Cowan NJ.
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| J Cell Biol 132(1-2):1-4. Review. No abstract available. 1996
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| 28 | RP2
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| Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa.
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| Aldred MA, et al.
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| Am J Hum Genet 55 : 916-922. 1994
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| 29 | RP2
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| X-linked retinitis pigmentosa : new map studies of XLRP2, and a possible human centromere effect.
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| Friedrich U, et al.
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| Hum Genet 88 : 683-687. 1992
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| 30 | RP2, RP3
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| Phenotype-genotype correlations in X-linked retinitis pigmentosa.
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| Kaplan J, et al.
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| J Med Genet 29 : 615-623. 1992
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| 31 | RP2
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| Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
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| Wright AF, et al.
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| J Med Genet 28 : 453-457. 1991
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| 32 | RP2
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| Genetic localization of RP2 in 6 X-linked retinitis pigmentosa families.
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| Aldred MA, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2053-2054. 1991
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| 33 | RP2, RP3
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| Two different clinical profiles account for the RP2 and RP3 forms of X-linked retinitis pigmentosa.
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| Kaplan J, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2070. 1991
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| 34 | RP2, RP3
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| Genetic mapping and carrier assessment by DNA analysis in genetically heterogeneous X-linked retinitis pigmentosa.
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| Bergen AA, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2057. 1991
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| 35 | RP2, RP3, RP4
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| Retinitis pigmentosa : genetic mapping in X-linked and autosomal forms of the disease.
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| Humphries P, et al.
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| Clin Genet 38 : 1-13. 1990
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| 36 | RP2, RP3, RP6, RP7
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| Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.
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| Musarella MA, et al.
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| Genomics 8 : 286-296. 1990
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| 37 | DXS426, DXS7, DXS255, RP2, TBC1D25
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| Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.
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| Coleman M, et al.
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| Am J Hum Genet 47 : 935-940. 1990
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| 38 | RP2, DXS255
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| Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27beta (DXS255).
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| Meitinger T, et al.
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| Hum Genet 81 : 283-286. 1989
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| 39 | RP2, RP3
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| Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.
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| Chen JD, et al.
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| Am J Hum Genet 45 : 401-411. 1989
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| 40 | RP2, RP3
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| Genetic linkage heterogeneity in X-linked retinitis pigmentosa.
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| Neugebauer M, et al.
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| Am J Hum Genet 43 : A153. 1988
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| 41 | RP2, DXS7, DXS84, DXS164
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| Linkage analysis of X linked retinitis pigmentosa in the Irish population.
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| Farrar GJ, et al.
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| J Med Genet 25 : 222-226. 1988
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| 42 | RP2
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| A family study of X-linked retinitis pigmentosa.
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| Litt M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 651. 1987
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| 43 | RP2
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| Linkage relationships about X-linked retinitis pigmentosa (RP2).
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| Wright AF, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 720. 1987
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| 44 | RP2, DXS7, DXS84, OTC, DXS206, DXS164, DXS28
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| Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci : DXS7, OTC, DXS84, XJ-1, DXS164, and DXS28.
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| Chen JD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 592. 1987
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| 45 | RP2
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| Linkage analysis of X-linked retinitis pigmentosa (RP2).
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| Musarella MA, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 666. 1987
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| 46 | RP2
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| Linkage analysis of X-linked retinitis pigmentosa (RP2) in the Irish population.
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| Farrar GJ, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 613. 1987
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| 47 | RP2
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| The gene of X-linked retinitis pigmentosa is closely linked to DXS84 and OTC.
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| Wirth B, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 718. 1987
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| 48 | RP2, DXS7, DXS14
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| Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers : exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
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| Wright AF, et al.
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| Am J Hum Genet 41 : 635-644. 1987
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| 49 | RP2
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| Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28) : further linkage data, heterogeneity testing, and risk estimation.
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| Clayton JF, et al.
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| Hum Genet 74 : 168-171. 1986
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| 50 | RP2, RP3
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| Mapping X-linked ophtalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.
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| Nussbaum RL, et al.
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| Hum Genet 70 : 45-50. 1985
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| 51 | RP2
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| Close genetic linkage between X-linked retinitis pigmentosa and arestriction fragment length polymorphism identified by recombinant DNA probeL1.28.
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| Bhattacharya SS, et al.
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| Nature 309 : 253-255. 1984
|