RP2 (gene): Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Protein XRP2''' is a [[protein]] that in humans is encoded by the ''RP2'' [[gene]].<ref name="pmid6325945">{{cite journal | vauthors = Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CM, Jay M, Bird AC, Pearson PL, Southern EM | title = Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 | journal = Nature | volume = 309 | issue = 5965 | pages = 253–5 | date = Jun 1984 | pmid = 6325945 | pmc =  | doi = 10.1038/309253a0 }}</ref><ref name="pmid9697692">{{cite journal | vauthors = Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W | title = Positional cloning of the gene for X-linked retinitis pigmentosa 2 | journal = Nat Genet | volume = 19 | issue = 4 | pages = 327–332 | date = Sep 1998 | pmid = 9697692 | pmc =  | doi = 10.1038/1214 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_RP2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bx6.
| PDB = {{PDB2|2bx6}}
| Name = Retinitis pigmentosa 2 (X-linked recessive)
| HGNCid = 10274
| Symbol = RP2
| AltSymbols =; KIAA0215; TBCCD2
| OMIM = 312600
| ECnumber = 
| Homologene = 5042
| MGIid = 1277953
| GeneAtlas_image1 = PBB_GE_RP2_205191_at_tn.png
| Function = {{GNF_GO|id=GO:0004550 |text = nucleoside diphosphate kinase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
| Component =
| Process = {{GNF_GO|id=GO:0006183 |text = GTP biosynthetic process}} {{GNF_GO|id=GO:0006228 |text = UTP biosynthetic process}} {{GNF_GO|id=GO:0006241 |text = CTP biosynthetic process}} {{GNF_GO|id=GO:0007025 |text = beta-tubulin folding}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6102
    | Hs_Ensembl = ENSG00000102218
    | Hs_RefseqProtein = NP_008846
    | Hs_RefseqmRNA = NM_006915
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 46581319
    | Hs_GenLoc_end = 46626737
    | Hs_Uniprot = O75695
    | Mm_EntrezGene = 19889
    | Mm_Ensembl = ENSMUSG00000060090
    | Mm_RefseqmRNA = XM_978337
    | Mm_RefseqProtein = XP_983431
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 19521562
    | Mm_GenLoc_end = 19562216
    | Mm_Uniprot = Q9EPK2
  }}
}}
'''Retinitis pigmentosa 2 (X-linked recessive)''', also known as '''RP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/> The RP2 protein is also involved in regulating the function and extension of outer segment of cone photoreceptors in mice <ref name="pmid26383048">{{cite journal | vauthors = Li L, Rao KN, Zheng-Le Y, Hurd TW, Lillo C, Khanna H | title = Loss of Retinitis Pigmentosa 2 (RP2) protein predominantly affects cone photoreceptor sensory cilium elongation in mice. | journal = Cytoskeleton | volume =  72| issue =  | pages =  447–54| date = Sep 2015 | pmid = 26383048 | pmc = 4715527| doi = 10.1002/cm.21255 }}</ref><ref name="pmid23745007">{{cite journal | vauthors = Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H | title = Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. | journal = Invest Ophthalmic Vis Sci | volume = 54 | issue = | pages = 4503–11 | date = 2013 | pmid = 23745007 | pmc =  3700388| doi = 10.1167/iovs.13-12140 }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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<ref name="entrez">{{cite web | title = Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102| accessdate = }}</ref>
}}


==References==
== References ==
{{reflist|2}}
{{reflist}}
==Further reading==
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Clayton JF, Wright AF, Jay M, McKeown CM, Dempster M, Jay BS, Bird AC, Bhattacharya SS | title = Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation | journal = Hum. Genet. | volume = 74 | issue = 2 | pages = 168–71 | year = 1986 | pmid = 2876947 | doi = 10.1007/BF00282083 }}
| citations =
* {{cite journal | vauthors = Thiselton DL, Hampson RM, Nayudu M, Van Maldergem L, Wolf ML, Saha BK, Bhattacharya SS, Hardcastle AJ | title = 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 | journal = Genome Res. | volume = 6 | issue = 11 | pages = 1093–102 | year = 1997 | pmid = 8938433 | doi = 10.1101/gr.6.11.1093 }}
*{{cite journal | author=Clayton JF, Wright AF, Jay M, ''et al.'' |title=Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation. |journal=Hum. Genet. |volume=74 |issue= 2 |pages= 168-71 |year= 1986 |pmid= 2876947 |doi= }}
* {{cite journal | vauthors = Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A | title = Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa | journal = Am. J. Hum. Genet. | volume = 64 | issue = 3 | pages = 897–900 | year = 1999 | pmid = 10053026 | pmc = 1377809 | doi = 10.1086/302298 }}
*{{cite journal | author=Bhattacharya SS, Wright AF, Clayton JF, ''et al.'' |title=Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. |journal=Nature |volume=309 |issue= 5965 |pages= 253-5 |year= 1984 |pmid= 6325945 |doi= }}
* {{cite journal | vauthors = Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S | title = Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study | journal = Am. J. Hum. Genet. | volume = 64 | issue = 4 | pages = 1210–5 | year = 2000 | pmid = 10090907 | pmc = 1377846 | doi = 10.1086/302325 }}
*{{cite journal | author=Thiselton DL, Hampson RM, Nayudu M, ''et al.'' |title=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. |journal=Genome Res. |volume=6 |issue= 11 |pages= 1093-102 |year= 1997 |pmid= 8938433 |doi= }}
* {{cite journal | vauthors = Rosenberg T, Schwahn U, Feil S, Berger W | title = Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2) | journal = Ophthalmic Genet. | volume = 20 | issue = 3 | pages = 161–172 | year = 1999 | pmid = 10520237 | doi = 10.1076/opge.20.3.161.2278 }}
*{{cite journal | author=Schwahn U, Lenzner S, Dong J, ''et al.'' |title=Positional cloning of the gene for X-linked retinitis pigmentosa 2. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 327-32 |year= 1998 |pmid= 9697692 |doi= 10.1038/1214 }}
* {{cite journal | vauthors = Wada Y, Nakazawa M, Abe T, Tamai M | title = A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa | journal = Invest. Ophthalmol. Vis. Sci. | volume = 41 | issue = 1 | pages = 290–3 | year = 2000 | pmid = 10634633 | doi =  }}
*{{cite journal | author=Mears AJ, Gieser L, Yan D, ''et al.'' |title=Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=64 |issue= 3 |pages= 897-900 |year= 1999 |pmid= 10053026 |doi= }}
* {{cite journal | vauthors = Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ | title = Novel frameshift mutations in the RP2 gene and polymorphic variants | journal = Hum. Mutat. | volume = 15 | issue = 6 | pages = 580–580 | year = 2000 | pmid = 10862093 | doi = 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3 }}
*{{cite journal | author=Hardcastle AJ, Thiselton DL, Van Maldergem L, ''et al.'' |title=Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1210-5 |year= 2000 |pmid= 10090907 |doi=  }}
* {{cite journal | vauthors = Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP | title = X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function | journal = Invest. Ophthalmol. Vis. Sci. | volume = 41 | issue = 9 | pages = 2712–21 | year = 2000 | pmid = 10937588 | doi =  }}
*{{cite journal | author=Rosenberg T, Schwahn U, Feil S, Berger W |title=Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). |journal=Ophthalmic Genet. |volume=20 |issue= 3 |pages= 161-72 |year= 1999 |pmid= 10520237 |doi= }}
* {{cite journal | vauthors = Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME | title = 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 | journal = Hum. Mol. Genet. | volume = 9 | issue = 13 | pages = 1919–26 | year = 2000 | pmid = 10942419 | doi = 10.1093/hmg/9.13.1919 }}
*{{cite journal  | author=Wada Y, Nakazawa M, Abe T, Tamai M |title=A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 1 |pages= 290-3 |year= 2000 |pmid= 10634633 |doi=  }}
* {{cite journal | vauthors = Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán 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 | title = Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains | journal = Hum. Mutat. | volume = 18 | issue = 2 | pages = 109–19 | year = 2001 | pmid = 11462235 | doi = 10.1002/humu.1160 }}
*{{cite journal | author=Thiselton DL, Zito I, Plant C, ''et al.'' |title=Novel frameshift mutations in the RP2 gene and polymorphic variants. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 580 |year= 2000 |pmid= 10862093 |doi= 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3 }}
* {{cite journal | vauthors = Liu L, Wei Y, Chen H | title = [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families] | journal = Zhonghua Yi Xue Za Zhi | volume = 81 | issue = 2 | pages = 71–2 | year = 2002 | pmid = 11798852 | doi =  }}
*{{cite journal | author=Sharon D, Bruns GA, McGee TL, ''et al.'' |title=X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 9 |pages= 2712-21 |year= 2000 |pmid= 10937588 |doi= }}
* {{cite journal | vauthors = Bartolini F, Bhamidipati A, Thomas S, Schwahn U, Lewis SA, Cowan NJ | title = Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C | journal = J. Biol. Chem. | volume = 277 | issue = 17 | pages = 14629–34 | year = 2002 | pmid = 11847227 | doi = 10.1074/jbc.M200128200 }}
*{{cite journal | author=Chapple JP, Hardcastle AJ, Grayson C, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 1919-26 |year= 2000 |pmid= 10942419 |doi=  }}
* {{cite journal | vauthors = Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A | title = A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa | journal = Am. J. Hum. Genet. | volume = 70 | issue = 6 | pages = 1545–54 | year = 2002 | pmid = 11992260 | pmc = 379141 | doi = 10.1086/340848 }}
*{{cite journal | author=Miano MG, Testa F, Filippini F, ''et al.'' |title=Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. |journal=Hum. Mutat. |volume=18 |issue= 2 |pages= 109-19 |year= 2001 |pmid= 11462235 |doi= 10.1002/humu.1160 }}
* {{cite journal | vauthors = Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T | title = 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 | journal = Invest. Ophthalmol. Vis. Sci. | volume = 44 | issue = 4 | pages = 1458–63 | year = 2003 | pmid = 12657579 | doi = 10.1167/iovs.02-0605 }}
*{{cite journal | author=Liu L, Wei Y, Chen H |title=[Identification of a nonsense mutation causing X-linked RP2 in two Chinese families] |journal=Zhonghua Yi Xue Za Zhi |volume=81 |issue= 2 |pages= 71-2 |year= 2002 |pmid= 11798852 |doi= }}
* {{cite journal | vauthors = Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL | title = RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa | journal = Am. J. Hum. Genet. | volume = 73 | issue = 5 | pages = 1131–46 | year = 2004 | pmid = 14564670 | pmc = 1180492 | doi = 10.1086/379379 }}
*{{cite journal | author=Bartolini F, Bhamidipati A, Thomas S, ''et al.'' |title=Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. |journal=J. Biol. Chem. |volume=277 |issue= 17 |pages= 14629-34 |year= 2002 |pmid= 11847227 |doi= 10.1074/jbc.M200128200 }}
* {{cite journal | vauthors = Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A | title = Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes | journal = Ophthalmic Genet. | volume = 24 | issue = 4 | pages = 215–23 | year = 2004 | pmid = 14566651 | doi = 10.1076/opge.24.4.215.17228 }}
*{{cite journal | author=Breuer DK, Yashar BM, Filippova E, ''et al.'' |title=A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=70 |issue= 6 |pages= 1545-54 |year= 2002 |pmid= 11992260 |doi= }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Bader I, Brandau O, Achatz H, ''et al.'' |title=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. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 4 |pages= 1458-63 |year= 2003 |pmid= 12657579 |doi=  }}
*{{cite journal  | author=Sharon D, Sandberg MA, Rabe VW, ''et al.'' |title=RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=73 |issue= 5 |pages= 1131-46 |year= 2004 |pmid= 14564670 |doi=  }}
*{{cite journal  | author=Andréasson S, Breuer DK, Eksandh L, ''et al.'' |title=Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. |journal=Ophthalmic Genet. |volume=24 |issue= 4 |pages= 215-23 |year= 2004 |pmid= 14566651 |doi=  }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
}}
{{refend}}
{{refend}}


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Revision as of 09:25, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Protein XRP2 is a protein that in humans is encoded by the RP2 gene.[1][2][3]

Function

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.[3] The RP2 protein is also involved in regulating the function and extension of outer segment of cone photoreceptors in mice [4][5]

References

  1. ↑ Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CM, Jay M, Bird AC, Pearson PL, Southern EM (Jun 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. doi:10.1038/309253a0. PMID 6325945.
  2. ↑ Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W (Sep 1998). "Positional cloning of the gene for X-linked retinitis pigmentosa 2". Nat Genet. 19 (4): 327–332. doi:10.1038/1214. PMID 9697692.
  3. ↑ 3.0 3.1 "Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)".
  4. ↑ Li L, Rao KN, Zheng-Le Y, Hurd TW, Lillo C, Khanna H (Sep 2015). "Loss of Retinitis Pigmentosa 2 (RP2) protein predominantly affects cone photoreceptor sensory cilium elongation in mice". Cytoskeleton. 72: 447–54. doi:10.1002/cm.21255. PMC 4715527. PMID 26383048.
  5. ↑ Li L, Khan N, Hurd T, Ghosh AK, Cheng C, Molday R, Heckenlively JR, Swaroop A, Khanna H (2013). "Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration". Invest Ophthalmic Vis Sci. 54: 4503–11. doi:10.1167/iovs.13-12140. PMC 3700388. PMID 23745007.

Further reading


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