RP2 (gene)

From Wikipedia, the free encyclopedia

Retinitis pigmentosa 2 (X-linked recessive)

PDB rendering based on 2bx6.

Available structures: 2bx6

Identifiers

Symbol(s)

RP2; KIAA0215; TBCCD2

External IDs

OMIM: 312600 MGI: 1277953 HomoloGene: 5042

Gene ontology
Molecular Function:	• nucleoside diphosphate kinase activity • ATP binding • unfolded protein binding
Biological Process:	• GTP biosynthetic process • UTP biosynthetic process • CTP biosynthetic process • beta-tubulin folding • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006915 (mRNA)
NP_008846 (protein)

XM_978337 (mRNA)
XP_983431 (protein)

Location

Chr X: 46.58 - 46.63 Mb

Chr X: 19.52 - 19.56 Mb

Pubmed search

[1]

[2]

Retinitis pigmentosa 2 (X-linked recessive), also known as RP2, is a human gene.^[1]

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^[1]

[edit] References

^ ^a ^b Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.