Reviewed June 2011
What is the official name of the ARMS2 gene?
The official name of this gene is “age-related maculopathy susceptibility 2.”
ARMS2 is the gene's official symbol. The ARMS2 gene is also known by other names, listed below.
What is the normal function of the ARMS2 gene?
The ARMS2 gene provides instructions for making a protein whose function is unknown. Studies suggest that the ARMS2 protein is found primarily in the placenta and in the specialized light-sensing tissue in the back of the eye (the retina). However, it is unclear what role, if any, the protein plays in early development or normal vision.
How are changes in the ARMS2 gene related to health conditions?
- age-related macular degeneration - associated with the ARMS2 gene
The ARMS2 gene is located on the long (q) arm of chromosome 10 in a region known as 10q26. This region has been strongly associated with the risk of developing age-related macular degeneration, a common cause of vision loss in older adults. Researchers have identified several variations (polymorphisms) in and near the ARMS2 gene that may explain the association between the 10q26 region and age-related macular degeneration. The best-studied of these variations, known as rs10490924, alters a single protein building block (amino acid) in the ARMS2 protein. Another common variation, a complex change that deletes a segment of the ARMS2 gene and inserts new genetic material, may also contribute to disease risk.
It is unclear how polymorphisms in the ARMS2 gene might be related to age-related macular degeneration. In the 10q26 region, the ARMS2 gene is located next to a gene called HTRA1; changes in this gene have also been studied as a risk factor for the disease. Because the two genes are so close together, it is difficult to tell whether changes in one gene or the other, or possibly changes in both genes, account for the increased disease risk. Age-related macular degeneration is a complex condition that likely results from a combination of multiple genetic and environmental factors.
Where is the ARMS2 gene located?
Cytogenetic Location: 10q26.13
Molecular Location on chromosome 10: base pairs 124,214,178 to 124,216,867
The ARMS2 gene is located on the long (q) arm of chromosome 10 at position 26.13.
More precisely, the ARMS2 gene is located from base pair 124,214,178 to base pair 124,216,867 on chromosome 10.
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 ARMS2?
You and your healthcare professional may find the following resources about ARMS2 helpful.
Educational resources - Information pages
- Neuroscience (second edition, 2001): Macular Degeneration (http://www.ncbi.nlm.nih.gov/books/NBK10850/box/A754/)
- Webvision: The Organization of the Retina and Visual System (2008): Molecular genetics of AMD (http://www.ncbi.nlm.nih.gov/books/NBK27323/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for ARMS2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=387715%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=((ARMS2%5BTIAB%5D)%20OR%20(LOC387715%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/611313)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=387715)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=32685)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/387715)
What other names do people use for the ARMS2 gene or gene products?
- age-related maculopathy susceptibility protein 2
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 ARMS2?
amino acid ;
macular degeneration ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH. Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet. 2011 Apr 1;20(7):1387-99. doi: 10.1093/hmg/ddr020. Epub 2011 Jan 20. (http://www.ncbi.nlm.nih.gov/pubmed/21252205?dopt=Abstract)
- Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008 Jul;40(7):892-6. doi: 10.1038/ng.170. Epub 2008 May 30. (http://www.ncbi.nlm.nih.gov/pubmed/18511946?dopt=Abstract)
- Kanda A, Chen W, Othman M, Branham KE, Brooks M, Khanna R, He S, Lyons R, Abecasis GR, Swaroop A. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16227-32. Epub 2007 Sep 20. (http://www.ncbi.nlm.nih.gov/pubmed/17884985?dopt=Abstract)
- Kanda A, Stambolian D, Chen W, Curcio CA, Abecasis GR, Swaroop A. Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis. 2010 Jul 15;16:1317-23. (http://www.ncbi.nlm.nih.gov/pubmed/20664794?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/387715)
- Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005 Nov 1;14(21):3227-36. Epub 2005 Sep 20. (http://www.ncbi.nlm.nih.gov/pubmed/16174643?dopt=Abstract)
- Tong Y, Liao J, Zhang Y, Zhou J, Zhang H, Mao M. LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis. 2010 Oct 5;16:1958-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21031019?dopt=Abstract)
- Yang Z, Tong Z, Chen Y, Zeng J, Lu F, Sun X, Zhao C, Wang K, Davey L, Chen H, London N, Muramatsu D, Salasar F, Carmona R, Kasuga D, Wang X, Bedell M, Dixie M, Zhao P, Yang R, Gibbs D, Liu X, Li Y, Li C, Li Y, Campochiaro B, Constantine R, Zack DJ, Campochiaro P, Fu Y, Li DY, Katsanis N, Zhang K. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010 Feb 5;6(2):e1000836. doi: 10.1371/journal.pgen.1000836. (http://www.ncbi.nlm.nih.gov/pubmed/20140183?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.