Reviewed October 2010
What is the official name of the RP2 gene?
The official name of this gene is “retinitis pigmentosa 2 (X-linked recessive).”
RP2 is the gene's official symbol. The RP2 gene is also known by other names, listed below.
What is the normal function of the RP2 gene?
The RP2 gene provides instructions for making a protein that is essential for normal vision. The RP2 protein is active in cells throughout the body, including cells that make up the light-sensitive tissue at the back of the eye (the retina). However, the function of the RP2 protein is not well understood. Studies suggest that it may be involved in transporting proteins within the retina's specialized light receptor cells (photoreceptors). Its role in other types of cells is unknown.
How are changes in the RP2 gene related to health conditions?
- retinitis pigmentosa - caused by mutations in the RP2 gene
More than 70 mutations in the RP2 gene have been identified in people with the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness in early childhood followed by progressive daytime vision loss. RP2 gene mutations account for 10 to 15 percent of all cases of X-linked retinitis pigmentosa.
Most mutations in the RP2 gene lead to the production of an abnormally short version of the RP2 protein. A few mutations change single building blocks (amino acids) in the RP2 protein. These changes alter the structure and function of the protein, which probably disrupts the stability or maintenance of photoreceptor cells. A gradual loss of photoreceptors underlies the progressive vision loss characteristic of retinitis pigmentosa.
Where is the RP2 gene located?
Cytogenetic Location: Xp11.3
Molecular Location on the X chromosome: base pairs 46,836,911 to 46,882,357
The RP2 gene is located on the short (p) arm of the X chromosome at position 11.3.
More precisely, the RP2 gene is located from base pair 46,836,911 to base pair 46,882,357 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about RP2?
You and your healthcare professional may find the following resources about RP2 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1417)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for RP2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6102%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28RP2%5BTIAB%5D%29%20OR%20%28retinitis%20pigmentosa%202%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/300757)
Research Resources - Tools for researchers
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10274)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6102)
- RetNet: Summaries of Genes and Loci Causing Retinal Diseases (https://sph.uth.edu/retnet/sum-dis.htm)
What other names do people use for the RP2 gene or gene products?
- protein XRP2
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding RP2?
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. 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 Jun;70(6):1545-54. Epub 2002 Apr 30. (http://www.ncbi.nlm.nih.gov/pubmed/11992260?dopt=Abstract)
- Evans RJ, Hardcastle AJ, Cheetham ME. Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res. 2006 Apr;82(4):543-4. Epub 2005 Nov 28. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16310188?dopt=Abstract)
- Evans RJ, Schwarz N, Nagel-Wolfrum K, Wolfrum U, Hardcastle AJ, Cheetham ME. The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet. 2010 Apr 1;19(7):1358-67. doi: 10.1093/hmg/ddq012. Epub 2010 Jan 27. (http://www.ncbi.nlm.nih.gov/pubmed/20106869?dopt=Abstract)
- Grayson C, Bartolini F, Chapple JP, Willison KR, Bhamidipati A, Lewis SA, Luthert PJ, Hardcastle AJ, Cowan NJ, Cheetham ME. 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 Nov 15;11(24):3065-74. (http://www.ncbi.nlm.nih.gov/pubmed/12417528?dopt=Abstract)
- Jayasundera T, Branham KE, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. (http://www.ncbi.nlm.nih.gov/pubmed/20625056?dopt=Abstract)
- Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 1999 Mar;64(3):897-900. (http://www.ncbi.nlm.nih.gov/pubmed/10053026?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6102)
- 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. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327-32. (http://www.ncbi.nlm.nih.gov/pubmed/9697692?dopt=Abstract)
- Schwahn U, Paland N, Techritz S, Lenzner S, Berger W. Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. Hum Mol Genet. 2001 May 15;10(11):1177-83. (http://www.ncbi.nlm.nih.gov/pubmed/11371510?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.