Gene: BAG3

Alternate names for this Gene: BAG-3|BIS|CAIR-1|MFM6

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q26.11

Description of this Gene: BAG cochaperone 3

Type of Gene: protein-coding

rs2234962 in BAG3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057517945 in BAG3 gene and CARDIOMYOPATHY, DILATED, 1HH PMID 21353195 2011 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

PMID 20605452 2010 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

PMID 25728519 2015 BAG3 myofibrillar myopathy presenting with cardiomyopathy.

PMID 19085932 2009 Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

PMID 21898660 2011 Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

PMID 27443559 2016 Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

PMID 22734908 2012 BAG3 mutations: another cause of giant axonal neuropathy.

PMID 21361913 2012 BAG3-related myofibrillar myopathy in a Chinese family.

PMID 25273835 2014 Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency.

PMID 25208129 2014 Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

PMID 27321750 2016 Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.

PMID 26545904 2015 BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

PMID 21459883 2011 A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

PMID 25008357 2014 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

PMID 2159883 1990 Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

rs1554875409 in BAG3 gene and Cardiomyopathy, Dilated PMID 25925243 2015 BAG3: a new player in the heart failure paradigm.

PMID 21459883 2011 A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

PMID 25728519 2015 BAG3 myofibrillar myopathy presenting with cardiomyopathy.

PMID 21353195 2011 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

PMID 22337857 2012 Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

PMID 25008357 2014 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

PMID 28737513 2017 Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

PMID 24558114 2014 Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

rs17617337 in BAG3 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs1057517945 in BAG3 gene and Myopathy, Myofibrillar, Bag3-Related PMID 21353195 2011 Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

PMID 19085932 2009 Mutation in BAG3 causes severe dominant childhood muscular dystrophy.

PMID 25728519 2015 BAG3 myofibrillar myopathy presenting with cardiomyopathy.

PMID 21676617 2011 Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.

PMID 26545904 2015 BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

PMID 25273835 2014 Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency.

PMID 27321750 2016 Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.

PMID 20605452 2010 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

PMID 21361913 2012 BAG3-related myofibrillar myopathy in a Chinese family.

PMID 25208129 2014 Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

PMID 21898660 2011 Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

PMID 27443559 2016 Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.

PMID 22734908 2012 BAG3 mutations: another cause of giant axonal neuropathy.

PMID 25008357 2014 The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

PMID 2159883 1990 Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells.

PMID 25448463 2014 Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

rs7095308 in BAG3 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.