Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BAG3 Gene

Aliases for BAG3 Gene

  • BCL2 Associated Athanogene 3 2 3 5
  • Bcl-2-Binding Protein Bis 3 4
  • Docking Protein CAIR-1 3 4
  • BAG-3 3 4
  • BIS 3 4
  • BAG Family Molecular Chaperone Regulator 3 3
  • Bcl-2-Associated Athanogene 3 4
  • BCL2-Binding Athanogene 3 3
  • CAIR-1 3
  • MFM6 3

External Ids for BAG3 Gene

Previous GeneCards Identifiers for BAG3 Gene

  • GC10P120329
  • GC10P120654
  • GC10P121542
  • GC10P121075
  • GC10P121400
  • GC10P115040

Summaries for BAG3 Gene

Entrez Gene Summary for BAG3 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]

GeneCards Summary for BAG3 Gene

BAG3 (BCL2 Associated Athanogene 3) is a Protein Coding gene. Diseases associated with BAG3 include Myopathy, Myofibrillar, 6 and Cardiomyopathy, Dilated, 1Hh. Among its related pathways are Cellular Senescence (REACTOME) and Apoptosis Modulation and Signaling. GO annotations related to this gene include protein complex binding and chaperone binding. An important paralog of this gene is BAG4.

UniProtKB/Swiss-Prot for BAG3 Gene

  • Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:9873016, PubMed:27474739). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920).

Gene Wiki entry for BAG3 Gene

Additional gene information for BAG3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAG3 Gene

Genomics for BAG3 Gene

Regulatory Elements for BAG3 Gene

Enhancers for BAG3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H119686 1.6 Ensembl ENCODE dbSUPER 23.3 +36.6 36571 3 HDGF PKNOX1 FOXA2 ARID4B FEZF1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 BAG3 TIAL1 SEC23IP RPL17P36 RPL21P16 TXNP1 INPP5F
GH10H119650 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.3 +4.3 4285 10 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 SEC23IP TIAL1 BAG3 INPP5F MCMBP GRK5 TXNP1
GH10H119665 1.5 Ensembl ENCODE dbSUPER 14.9 +17.3 17315 6 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF121 ZNF766 GLIS2 FOS BAG3 INPP5F TXNP1
GH10H119618 0.9 Ensembl ENCODE 17.5 -31.5 -31531 2 MAZ HLF CEBPB REST ZSCAN21 NFIC JUND GATA3 FOS PRDM10 INPP5F BAG3 TIAL1 RAD1P1 GC10P119612
GH10H119663 1.3 Ensembl ENCODE dbSUPER 10.7 +12.7 12711 1 ZSCAN4 MAX FOSL1 E2F1 CTBP1 GATA3 ARID3A FOS ZNF600 RCOR1 BAG3 TXNP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BAG3 on UCSC Golden Path with GeneCards custom track

Promoters for BAG3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000034315 653 2801 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF121 GLIS2 ELK1 FOS RUNX3

Genomic Location for BAG3 Gene

Chromosome:
10
Start:
119,651,347 bp from pter
End:
119,677,819 bp from pter
Size:
26,473 bases
Orientation:
Plus strand

Genomic View for BAG3 Gene

Genes around BAG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAG3 Gene

Proteins for BAG3 Gene

  • Protein details for BAG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95817-BAG3_HUMAN
    Recommended name:
    BAG family molecular chaperone regulator 3
    Protein Accession:
    O95817
    Secondary Accessions:
    • A8K5L8
    • Q3B763
    • Q9NT20
    • Q9P120

    Protein attributes for BAG3 Gene

    Size:
    575 amino acids
    Molecular mass:
    61595 Da
    Quaternary structure:
    • Binds to the ATPase domain of HSP70/HSC70 chaperones (PubMed:9873016). Interacts with BCL2 (PubMed:10597216). Interacts with phospholipase C-gamma proteins (PubMed:10980614). Interacts with DNAJB6 (PubMed:22366786). Interacts (via BAG domain) with HSF1; this interaction occurs in normal and heat-shocked cells promoting HSF1 nucleocytoplasmic shuttling (PubMed:26159920). Interacts with HSPA8 (via NBD) (PubMed:27474739, PubMed:24318877). Interacts with HSPA1A (via NBD) and HSPA1B (via NBD) (PubMed:24318877). Interacts (via WW domain 1) with SYNPO2 (via PPPY motif) (PubMed:23434281). Interacts with HSPB8 (PubMed:28144995).

neXtProt entry for BAG3 Gene

Post-translational modifications for BAG3 Gene

  • Ubiquitination at posLast=450450
  • Modification sites at PhosphoSitePlus

Other Protein References for BAG3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BAG3

No data available for DME Specific Peptides for BAG3 Gene

Domains & Families for BAG3 Gene

Gene Families for BAG3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BAG3 Gene

Suggested Antigen Peptide Sequences for BAG3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BAG3: view

No data available for UniProtKB/Swiss-Prot for BAG3 Gene

Function for BAG3 Gene

Molecular function for BAG3 Gene

UniProtKB/Swiss-Prot Function:
Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:9873016, PubMed:27474739). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920).

Phenotypes From GWAS Catalog for BAG3 Gene

Gene Ontology (GO) - Molecular Function for BAG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000774 adenyl-nucleotide exchange factor activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0032403 protein complex binding IEA --
GO:0045296 cadherin binding IDA 25468996
GO:0051087 chaperone binding IEA --
genes like me logo Genes that share ontologies with BAG3: view
genes like me logo Genes that share phenotypes with BAG3: view

Human Phenotype Ontology for BAG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BAG3 Gene

MGI Knock Outs for BAG3:

Animal Model Products

  • Taconic Biosciences Mouse Models for BAG3

CRISPR Products

miRNA for BAG3 Gene

miRTarBase miRNAs that target BAG3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BAG3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BAG3 Gene

Localization for BAG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAG3 Gene

Nucleus. Cytoplasm. Note=Colocalizes with HSF1 to the nucleus upon heat stress (PubMed:26159920). {ECO:0000269 PubMed:26159920}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAG3 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 26159920
GO:0005737 cytoplasm IEA,IDA 26159920
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with BAG3: view

Pathways & Interactions for BAG3 Gene

genes like me logo Genes that share pathways with BAG3: view

Pathways by source for BAG3 Gene

SIGNOR curated interactions for BAG3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BAG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 9873016
GO:0006915 apoptotic process IEA --
GO:0007420 brain development IEA --
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA 10597216
GO:0010664 negative regulation of striated muscle cell apoptotic process IEA --
genes like me logo Genes that share ontologies with BAG3: view

Drugs & Compounds for BAG3 Gene

No Compound Related Data Available

Transcripts for BAG3 Gene

mRNA/cDNA for BAG3 Gene

Unigene Clusters for BAG3 Gene

BCL2-associated athanogene 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BAG3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BAG3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - -
SP2: - -
SP3:

Relevant External Links for BAG3 Gene

GeneLoc Exon Structure for
BAG3
ECgene alternative splicing isoforms for
BAG3

Expression for BAG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAG3 Gene

mRNA differential expression in normal tissues according to GTEx for BAG3 Gene

This gene is overexpressed in Muscle - Skeletal (x8.1).

Protein differential expression in normal tissues from HIPED for BAG3 Gene

This gene is overexpressed in Bone (21.6) and Bone marrow stromal cell (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BAG3 Gene



Protein tissue co-expression partners for BAG3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BAG3 Gene:

BAG3

SOURCE GeneReport for Unigene cluster for BAG3 Gene:

Hs.523309

Evidence on tissue expression from TISSUES for BAG3 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Lung(4.3)
  • Muscle(3.5)
  • Heart(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BAG3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • vocal cord
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • knee
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with BAG3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for BAG3 Gene

Orthologs for BAG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAG3 33 34
  • 99.42 (n)
rat
(Rattus norvegicus)
Mammalia Bag3 33
  • 86.34 (n)
mouse
(Mus musculus)
Mammalia Bag3 33 16 34
  • 85.29 (n)
dog
(Canis familiaris)
Mammalia BAG3 33 34
  • 85.16 (n)
cow
(Bos Taurus)
Mammalia BAG3 33 34
  • 85.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAG3 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAG3 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAG3 33 34
  • 65.31 (n)
lizard
(Anolis carolinensis)
Reptilia BAG3 34
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bag3-A 33
zebrafish
(Danio rerio)
Actinopterygii bag3 33 34
  • 52.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta stv 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5020 34
  • 28 (a)
OneToMany
Species where no ortholog for BAG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BAG3 Gene

ENSEMBL:
Gene Tree for BAG3 (if available)
TreeFam:
Gene Tree for BAG3 (if available)

Paralogs for BAG3 Gene

Paralogs for BAG3 Gene

genes like me logo Genes that share paralogs with BAG3: view

Variants for BAG3 Gene

Sequence variations from dbSNP and Humsavar for BAG3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121918312 Pathogenic, Myopathy, myofibrillar, 6 (MFM6) [MIM:612954] 119,672,373(+) CATTC(A/C/T)GGTGA reference, missense
rs387906874 Pathogenic, Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] 119,669,881(+) CTTCC(C/T)GGGAG reference, missense
rs387906876 Pathogenic, Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] 119,676,984(+) TGTGC(A/G)TCAGG reference, missense
rs397514506 Pathogenic, Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] 119,672,399(+) TTACC(C/T)GGCCA reference, missense
rs397514507 Pathogenic, Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] 119,676,939(+) AGAGC(C/T)GCTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BAG3 Gene

Variant ID Type Subtype PubMed ID
esv3624708 CNV loss 21293372
esv3891891 CNV gain 25118596
nsv1045668 CNV gain 25217958
nsv522347 CNV loss 19592680
nsv825585 CNV gain 20364138

Variation tolerance for BAG3 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.63; 89.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BAG3 Gene

Human Gene Mutation Database (HGMD)
BAG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAG3 Gene

Disorders for BAG3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for BAG3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopathy, myofibrillar, 6
  • myofibrillar myopathy 6
cardiomyopathy, dilated, 1hh
  • dilated cardiomyopathy 1hh
bag3-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1hh
dilated cardiomyopathy
  • congestive cardiomyopathy
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search BAG3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAG3_HUMAN
  • Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:21353195, ECO:0000269 PubMed:21459883, ECO:0000269 PubMed:21898660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myofibrillar, 6 (MFM6) [MIM:612954]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. {ECO:0000269 PubMed:19085932, ECO:0000269 PubMed:21361913, ECO:0000269 PubMed:21898660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BAG3

Genetic Association Database (GAD)
BAG3
Human Genome Epidemiology (HuGE) Navigator
BAG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAG3
genes like me logo Genes that share disorders with BAG3: view

No data available for Genatlas for BAG3 Gene

Publications for BAG3 Gene

  1. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. (PMID: 9873016) Takayama S … Reed JC (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. (PMID: 21459883) Villard E … Cambien F (European heart journal 2011) 3 4 45 60
  3. Bis, a Bcl-2-binding protein that synergizes with Bcl-2 in preventing cell death. (PMID: 10597216) Lee JH … Tsujimoto Y (Oncogene 1999) 3 4 22 60
  4. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations. (PMID: 28144995) Echaniz-Laguna A … Stojkovic T (Human mutation 2017) 3 4 60
  5. Non-canonical Interactions between Heat Shock Cognate Protein 70 (Hsc70) and Bcl2-associated Anthanogene (BAG) Co-Chaperones Are Important for Client Release. (PMID: 27474739) Rauch JN … Gestwicki JE (The Journal of biological chemistry 2016) 3 4 60

Products for BAG3 Gene

Sources for BAG3 Gene

Content
Loading form....