BAG5

BAG cochaperone 5, the group of BAG cochaperones

Basic information

Region (hg38): 14:103556545-103562657

Links

ENSG00000166170

∙ NCBI:9529 ∙ OMIM:603885 ∙ HGNC:941 ∙ Uniprot:Q9UL15 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

cardiomyopathy, dilated, 2F (Strong), mode of inheritance: AR
cardiomyopathy, dilated, 2F (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiomyopathy, dilated, 2F	AR	Cardiovascular	The condition can involve cardiomyopathy and arrhythmia, and surveillance (eg, with echocardiogram and electocardiogram) may allow early detection and management (eg, the use of LVAD has been described) of manifestations, which may be beneficial	Cardiovascular	35044787; 36130910

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BAG5 gene.

Inborn_genetic_diseases (64 variants)
Cardiomyopathy,_dilated,_2F (5 variants)
not_provided (4 variants)
Cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAG5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001015048.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			55 clinvar	4 clinvar		59
nonsense	1 clinvar	1 clinvar				2
start loss						0
frameshift	1 clinvar	2 clinvar	1 clinvar			4
splice donor/acceptor (+/-2bp)						0
Total	2	3	56	6	0

Highest pathogenic variant AF is 0.00001504928

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAG5	protein_coding	protein_coding	ENST00000337322	2	6288

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000181	0.687	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.372	240	257	0.935	0.0000146	3229
Missense in Polyphen		69	82.803	0.8333		1120
Synonymous	-0.0767	104	103	1.01	0.00000621	931
Loss of Function	1.10	11	15.7	0.700	8.36e-7	208

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000362	0.000362
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000939	0.0000924
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000326	0.000326
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Inhibits both auto-ubiquitination of PRKN and ubiquitination of target proteins by PRKN (By similarity). May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding. {ECO:0000250, ECO:0000269|PubMed:20223214}.;
Pathway: Regulation of HSF1-mediated heat shock response;Cellular responses to stress;Cellular responses to external stimuli;Cellular response to heat stress (Consensus)

Recessive Scores

pRec: 0.204

Intolerance Scores

loftool: 0.185
rvis_EVS: -0.07
rvis_percentile_EVS: 48.54

Haploinsufficiency Scores

pHI: 0.347
hipred: Y
hipred_score: 0.754
ghis: 0.570

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.756

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Bag5
Phenotype

Gene ontology

Biological process: protein folding;Golgi organization;negative regulation of neuron projection development;negative regulation of protein ubiquitination;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;protein stabilization;regulation of ubiquitin-protein transferase activity;negative regulation of ubiquitin-protein transferase activity;negative regulation of protein refolding;neuron death;regulation of inclusion body assembly;regulation of cellular response to heat;negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
Cellular component: nucleus;mitochondrion;cytosol;membrane;inclusion body;perinuclear region of cytoplasm
Molecular function: adenyl-nucleotide exchange factor activity;protein binding;protein kinase binding;ubiquitin protein ligase binding;chaperone binding