What is the official name of the BAG3 gene?
The official name of this gene is “BCL2 associated athanogene 3.”
BAG3 is the gene's official symbol. The BAG3 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 BAG3 gene?
- From NCBI Gene:
BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
- From UniProt (BAG3_HUMAN):
Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Has anti-apoptotic activity.
How are changes in the BAG3 gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the BAG3 gene:
- UniProt (BAG3_HUMAN) provides the following information about the BAG3 gene's known or predicted involvement in human disease.
Myopathy, myofibrillar, 6 (MFM6): A neuromuscular disorder that results in early-onset, severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. At ultrastructural level, muscle fibers display structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, dilated 1HH (CMD1HH): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BAG3 gene.
- Dilated cardiomyopathy 1HH
- Myofibrillar myopathy, BAG3-related
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the BAG3 gene and its association with health conditions.
Where is the BAG3 gene located?
Cytogenetic Location: 10q25.2-q26.2
Molecular Location on chromosome 10: base pairs 119,651,347 to 119,677,819
The BAG3 gene is located on the long (q) arm of chromosome 10 between positions 25.2 and 26.2.
More precisely, the BAG3 gene is located from base pair 119,651,347 to base pair 119,677,819 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BAG3?
You and your healthcare professional may find the following resources about BAG3 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the BAG3 gene or gene products?
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 BAG3?
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? in the Handbook.