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BAG3

Chr 10q26.11

BAG cochaperone 3

MANE:
ENST00000369085.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Distal myopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Arthrogryposis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

  • dilated cardiomyopathy 1HH

    0.82
  • myofibrillar myopathy 6

    0.79
  • dilated cardiomyopathy

    0.72
  • familial isolated dilated cardiomyopathy

    0.68
  • cardiomyopathy

    0.61
  • heart failure

    0.59
  • hypertrophic cardiomyopathy

    0.59
  • Abnormality of the cardiovascular system

    0.56
  • familial dilated cardiomyopathy

    0.51
  • atrioventricular block

    0.50

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BAG family molecular chaperone regulator 3

Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. HSPA1A/HSP70 or HSPA8/HSC70, and small heat shock proteins (sHSPs), e.g. HSPB8 (PubMed:27884606, PubMed:30559338). Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from HSP70s, thereby triggering client protein release (PubMed:27884606, PubMed:30559338). Nucleotide release is mediated via BAG3 binding to the nucleotide-binding domain (NBD) of HSP70s, whereas client release is mediated via binding to the substrate-binding domain (SBD) (PubMed:27474739, PubMed:9873016). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920)

Curated MONDO disease pages that list BAG3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.