BAG3 gene

BCL2 associated athanogene 3

The information on this page was automatically extracted from online scientific databases.

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:

Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Has anti-apoptotic activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Myofibrillar myopathy, BAG3-related
  • Dilated cardiomyopathy 1HH

From UniProt:

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. [MIM:613881]

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. [MIM:612954]

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11

Molecular Location: base pairs 119,651,347 to 119,677,819 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11
  • BAG-3
  • BIS
  • CAIR-1
  • MFM6