Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

RAD50

Reviewed August 2007

What is the official name of the RAD50 gene?

The official name of this gene is “RAD50 homolog (S. cerevisiae).”

RAD50 is the gene's official symbol. The RAD50 gene is also known by other names, listed below.

What is the normal function of the RAD50 gene?

The RAD50 gene provides instructions for making a protein that is involved in several critical cellular functions, including the repair of damaged DNA.

The RAD50 protein binds to strands of damaged DNA and holds the broken ends together during the repair process. It interacts with two other proteins, produced from the MRE11A and NBN genes, as part of a larger protein complex. These proteins work together to mend broken strands of DNA, which prevents cells from accumulating genetic damage that can trigger them to divide uncontrollably. By repairing damaged DNA, the MRE11A/RAD50/NBN complex helps maintain the stability of a cell's genetic information.

The MRE11A/RAD50/NBN complex interacts with the protein produced from the ATM gene, which plays an essential role in recognizing broken strands of DNA and coordinating their repair. DNA can be damaged by agents such as toxic chemicals or radiation, and breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division.

How are changes in the RAD50 gene related to health conditions?

breast cancer - associated with the RAD50 gene

Some research suggests that inherited mutations in the RAD50 gene are associated with an increased risk of developing breast cancer. Other studies have not found this connection, and researchers believe that mutations in the RAD50 gene are not a major genetic risk factor for developing this disease.

RAD50 mutations can lead to the production of an abnormally small, nonfunctional version of the RAD50 protein. When this protein is defective or missing, cells may be unable to respond effectively to DNA damage. As defects accumulate in DNA, they can trigger cells to grow and divide uncontrollably and form a tumor.

Where is the RAD50 gene located?

Cytogenetic Location: 5q31

Molecular Location on chromosome 5: base pairs 131,892,615 to 131,980,312

The RAD50 gene is located on the long (q) arm of chromosome 5 at position 31.

The RAD50 gene is located on the long (q) arm of chromosome 5 at position 31.

More precisely, the RAD50 gene is located from base pair 131,892,615 to base pair 131,980,312 on chromosome 5.

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 RAD50?

You and your healthcare professional may find the following resources about RAD50 helpful.

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for RAD50 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=10111%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=((RAD50%5BTI%5D)%20OR%20(hRAD50%5BTI%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/604040)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_RAD50.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10111)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=10111)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9816)

What other names do people use for the RAD50 gene or gene products?

  • DNA repair protein RAD50
  • hRad50
  • RAD50-2
  • RAD50 homolog
  • RAD50_HUMAN
  • RAD50 (S. cerevisiae) homolog

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 RAD50?

cancer ; cell ; cell division ; DNA ; DNA damage ; DNA repair ; gene ; protein ; radiation ; telomere ; toxic ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Assenmacher N, Hopfner KP. MRE11/RAD50/NBS1: complex activities. Chromosoma. 2004 Oct;113(4):157-66. Epub 2004 Aug 10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15309560?dopt=Abstract)
  • Bhaskara V, Dupré A, Lengsfeld B, Hopkins BB, Chan A, Lee JH, Zhang X, Gautier J, Zakian V, Paull TT. Rad50 adenylate kinase activity regulates DNA tethering by Mre11/Rad50 complexes. Mol Cell. 2007 Mar 9;25(5):647-61. (http://www.ncbi.nlm.nih.gov/pubmed/17349953?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/10111)
  • Heikkinen K, Karppinen SM, Soini Y, Mäkinen M, Winqvist R. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. J Med Genet. 2003 Dec;40(12):e131. (http://www.ncbi.nlm.nih.gov/pubmed/14684699?dopt=Abstract)
  • Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundán T, Mannermaa A, Børresen-Dale AL, Borg A, Barkardottir RB, Petrini J, Winqvist R. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006 Aug;27(8):1593-9. Epub 2006 Feb 12. (http://www.ncbi.nlm.nih.gov/pubmed/16474176?dopt=Abstract)
  • Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, Jayatilake H, Bartkova J, Tallila J, Kaare M, Tamminen A, Heikkilä P, Evans DG, Eccles D, Aittomäki K, Blomqvist C, Bartek J, Stratton MR, Nevanlinna H, Rahman N. Evaluation of RAD50 in familial breast cancer predisposition. Int J Cancer. 2006 Jun 1;118(11):2911-6. (http://www.ncbi.nlm.nih.gov/pubmed/16385572?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2007
Published: May 20, 2013