BAG3 Chromosome 10
BAG cochaperone 3
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What This Gene Does
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]
Gene Info
Gene Group
BAG cochaperones
Locus Type
gene with protein product
Location
10q26.11
Ensembl
ENSG00000151929
Associated Conditions (29)
Dilated cardiomyopathy 1HH
Myofibrillar myopathy 6
Cardiovascular phenotype
Cardiomyopathy
BAG3-related disorder
Primary dilated cardiomyopathy
Abnormality of the musculature
Premature ventricular contraction
Familial isolated arrhythmogenic right ventricular dysplasia
Left ventricular noncompaction 1
Hypertrophic cardiomyopathy
Thyroid cancer
nonmedullary
1
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Gastric cancer
Uterine carcinosarcoma
+9 more conditions
Key Variants
RS111750619
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Health Risk
RS111787446
Conflicting classifications of pathogenicity
Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype
Health Risk
RS11199064
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS112929734
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS117972572
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Health Risk
RS1227175290
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS1286082290
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Health Risk
RS1325704409
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS139125612
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS1393181351
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS139399890
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
RS140251789
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Health Risk
All Variants (212)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1473083093 | Health Risk | Likely pathogenic | — |
| RS1554877037 | Health Risk | Likely pathogenic | — |
| RS1589628864 | Health Risk | Likely pathogenic | — |
| RS1589632876 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS1847161579 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS199682693 | Health Risk | Likely pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype |
| RS2134064890 | Health Risk | Likely pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS2134064900 | Health Risk | Likely pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS2134069295 | Health Risk | Likely pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS2494009711 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS2494013310 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS2494014941 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS2494023702 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2494024121 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS397514507 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS727505283 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS730880055 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS751261054 | Health Risk | Likely pathogenic | Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy |
| RS869025365 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1057517945 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype |
| RS1183981489 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS121918312 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype |
| RS1344275862 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS143919208 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype |
| RS1474660052 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS148544471 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1554876984 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1554876999 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS1554877001 | Health Risk | Pathogenic | Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS1554877224 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype |
| RS1554877731 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554877765 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS1564767043 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1564773559 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Cardiovascular phenotype, Myofibrillar myopathy 6 |
| RS1564773589 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1564774433 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1564774668 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype |
| RS1589630001 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS1589630173 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS1847126002 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype |
| RS1847128695 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1847165958 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1847169064 | Health Risk | Pathogenic | — |
| RS1847236575 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1847237761 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1847238300 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS1847246944 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS2134050486 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |
| RS2134050674 | Health Risk | Pathogenic | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 |
| RS2134063372 | Health Risk | Pathogenic | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH |