Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9531
Gene name Gene Name - the full gene name approved by the HGNC.
BAG cochaperone 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BAG3
Synonyms (NCBI Gene) Gene synonyms aliases
BAG-3, BIS, CAIR-1, CMD1HH, CMT2JJ, HMND15, MFM6
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs117749531 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic Stop gained, missense variant, coding sequence variant
rs121918312 C>A,T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs143919208 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs145393807 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign Missense variant, coding sequence variant
rs151331972 C>A,G,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029481 hsa-miR-26b-5p Microarray 19088304
MIRT046955 hsa-miR-221-3p CLASH 23622248
MIRT814539 hsa-miR-1283 CLIP-seq
MIRT814540 hsa-miR-129-3p CLIP-seq
MIRT814541 hsa-miR-140-3p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
GTF3A Activation 19282432
HSF1 Repression 19006120
HSF1 Unknown 20692357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IEA
GO:0000774 Function Adenyl-nucleotide exchange factor activity IBA
GO:0000774 Function Adenyl-nucleotide exchange factor activity IDA 20060297, 24318877, 30559338
GO:0001725 Component Stress fiber IEA
GO:0005515 Function Protein binding IPI 16189514, 19229298, 21044950, 21516116, 22366786, 23434281, 24318877, 24510904, 25036637, 25277244, 25416956, 26159920, 26496610, 27880917, 28144995, 28514442, 31515488, 32296183, 32707033, 32814053, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603883 939 ENSG00000151929
Protein
UniProt ID O95817
Protein name BAG family molecular chaperone regulator 3 (BAG-3) (Bcl-2-associated athanogene 3) (Bcl-2-binding protein Bis) (Docking protein CAIR-1)
Protein function 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:3055
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00397 WW 22 52 WW domain Domain
PF02179 BAG 425 497 BAG domain Family
Sequence
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPK
ETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQ
RFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCS
SSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEY
QTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVD
RPQQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSE
KVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTAPAEATPPKPGEAEAPPKHP
GVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQAR
RDGVRKVQTILEKLEQK
AIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAG
NAEDPHTETQQPEATAAATSNPSSMTDTPGNPAAP
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of HSF1-mediated heat shock response
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy rs869025365, rs1589632398, rs876657634, rs869248137, rs387906875, rs751261054, rs397516881, rs727505283, rs1554875409, rs727505109, rs727502897, rs1564773559, rs730880055 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1HH rs1589632876, rs1847236575, rs387906875, rs869248137, rs1589630173, rs1554877224, rs397514507, rs1135402750, rs1554875409 N/A
Peripheral Neuropathy peripheral neuropathy rs121918312 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia N/A N/A ClinVar
Atrial Fibrillation atrial fibrillation N/A N/A ClinVar
Charcot-Marie-Tooth Disease Charcot-Marie-tooth disease, axonal, type 2JJ N/A N/A GenCC
Heart Failure Heart failure N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 20605452, 27443559
Alzheimer Disease Associate 35008592, 37536287
Amyotrophic Lateral Sclerosis Associate 27570075
Anodontia Associate 31444794
Anophthalmia with pulmonary hypoplasia Associate 31119886
Arrhythmias Cardiac Associate 30442290, 35205406
Atrial Fibrillation Associate 35205406
Atrioventricular Block Associate 35205406
Blood Platelet Disorders Associate 34741638
Brain Diseases Associate 17187345, 38212812