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BARD1

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Reviewed March 2011

What is the official name of the BARD1 gene?

The official name of this gene is “BRCA1 associated RING domain 1.”

BARD1 is the gene's official symbol. The BARD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the BARD1 gene?

The BARD1 gene provides instructions for making a protein that helps control cell growth and division. Within the nucleus of cells, the BARD1 protein interacts with the protein produced from the BRCA1 gene. Together, these two proteins act as tumor suppressors, which means they prevent cells from growing and dividing too rapidly or in an uncontrolled way.

The BARD1 and BRCA1 proteins work together to repair damaged DNA. Research has shown that the BARD1 protein binds to the BRCA1 protein, which stabilizes both proteins and targets the BRCA1 protein to sites where DNA strands are broken. Breaks in DNA can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair damaged DNA, the BARD1 and BRCA1 proteins play a critical role in maintaining the stability of a cell's genetic information.

Studies suggest that the BARD1 protein also has functions apart from its partnership with the BRCA1 protein. The BARD1 protein interacts with another protein, p53 (which is produced from the TP53 gene) to promote controlled cell death (apoptosis) and regulate cell division. Other potential functions of the BARD1 protein are under study.

How are changes in the BARD1 gene related to health conditions?

breast cancer - associated with the BARD1 gene

The role of BARD1 mutations in cancer risk is uncertain. Although some research studies have found that changes in the BARD1 gene may influence a person's risk of developing breast cancer, other studies have not supported this association.

Mutations in the BARD1 gene may prevent the BARD1 protein from helping repair damaged DNA. As defects accumulate in DNA, they can allow cells to grow and divide uncontrollably and form a tumor. Additionally, BARD1 mutations may prevent cells from self-destructing (undergoing apoptosis) when they are damaged or no longer needed, which can also contribute to the formation and progression of cancerous tumors.

Genetics Home Reference provides information about neuroblastoma, which is also associated with changes in the BARD1 gene.

Where is the BARD1 gene located?

Cytogenetic Location: 2q34-q35

Molecular Location on chromosome 2: base pairs 215,593,261 to 215,674,427

The BARD1 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35.

The BARD1 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35.

More precisely, the BARD1 gene is located from base pair 215,593,261 to base pair 215,674,427 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about BARD1?

You and your healthcare professional may find the following resources about BARD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BARD1 gene or gene products?

  • BARD-1
  • BARD1_HUMAN
  • BRCA1-associated RING domain gene 1

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding BARD1?

apoptosis ; cancer ; cell ; cell division ; DNA ; domain ; gene ; nucleus ; progression ; protein ; radiation ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

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? in the Handbook.

 
Reviewed: March 2011
Published: May 13, 2013