RP2 (gene)

Retinitis pigmentosa 2 (X-linked recessive)
File:PBB Protein RP2 image.jpg PDB rendering based on 2bx6.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2bx6​
Identifiers
Symbols	RP2 ; KIAA0215; TBCCD2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 5042
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE RP2 205191 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Retinitis pigmentosa 2 (X-linked recessive), also known as RP2, is a human gene.

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

Further reading

• Clayton JF, Wright AF, Jay M; et al. (1986). "Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation". Hum. Genet. 74 (2): 168–71. PMID 2876947.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bhattacharya SS, Wright AF, Clayton JF; et al. (1984). "Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28". Nature. 309 (5965): 253–5. PMID 6325945.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Thiselton DL, Hampson RM, Nayudu M; et al. (1997). "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. 6 (11): 1093–102. PMID 8938433.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schwahn U, Lenzner S, Dong J; et al. (1998). "Positional cloning of the gene for X-linked retinitis pigmentosa 2". Nat. Genet. 19 (4): 327–32. doi:10.1038/1214. PMID 9697692.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mears AJ, Gieser L, Yan D; et al. (1999). "Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa". Am. J. Hum. Genet. 64 (3): 897–900. PMID 10053026.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hardcastle AJ, Thiselton DL, Van Maldergem L; et al. (2000). "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. 64 (4): 1210–5. PMID 10090907.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rosenberg T, Schwahn U, Feil S, Berger W (1999). "Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)". Ophthalmic Genet. 20 (3): 161–72. PMID 10520237.CS1 maint: Multiple names: authors list (link)
• Wada Y, Nakazawa M, Abe T, Tamai M (2000). "A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 41 (1): 290–3. PMID 10634633.CS1 maint: Multiple names: authors list (link)
• Thiselton DL, Zito I, Plant C; et al. (2000). "Novel frameshift mutations in the RP2 gene and polymorphic variants". Hum. Mutat. 15 (6): 580. doi:10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3. PMID 10862093.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sharon D, Bruns GA, McGee TL; et al. (2000). "X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function". Invest. Ophthalmol. Vis. Sci. 41 (9): 2712–21. PMID 10937588.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chapple JP, Hardcastle AJ, Grayson C; et al. (2000). "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. 9 (13): 1919–26. PMID 10942419.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Miano MG, Testa F, Filippini F; et al. (2001). "Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains". Hum. Mutat. 18 (2): 109–19. doi:10.1002/humu.1160. PMID 11462235.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Liu L, Wei Y, Chen H (2002). "[Identification of a nonsense mutation causing X-linked RP2 in two Chinese families]". Zhonghua Yi Xue Za Zhi. 81 (2): 71–2. PMID 11798852.CS1 maint: Multiple names: authors list (link)
• Bartolini F, Bhamidipati A, Thomas S; et al. (2002). "Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.". J. Biol. Chem. 277 (17): 14629–34. doi:10.1074/jbc.M200128200. PMID 11847227.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Breuer DK, Yashar BM, Filippova E; et al. (2002). "A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa". Am. J. Hum. Genet. 70 (6): 1545–54. PMID 11992260.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bader I, Brandau O, Achatz H; et al. (2003). "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. 44 (4): 1458–63. PMID 12657579.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sharon D, Sandberg MA, Rabe VW; et al. (2004). "RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa". Am. J. Hum. Genet. 73 (5): 1131–46. PMID 14564670.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andréasson S, Breuer DK, Eksandh L; et al. (2004). "Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes". Ophthalmic Genet. 24 (4): 215–23. PMID 14566651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)