BAG5

BAG cochaperone 5, the group of BAG cochaperones

Basic information

Region (hg38): 14:103556544-103562657

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

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 (17 variants)
• not provided (2 variants)
• Cardiomyopathy, dilated, 2F (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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			12	2		14
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	17	3	0

Variants in BAG5

This is a list of pathogenic ClinVar variants found in the BAG5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-103559873-G-A		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
14-103559942-G-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2023)
14-103559997-G-A		Cardiomyopathy, dilated, 2F	Pathogenic (Mar 28, 2023)
14-103559997-G-C		Inborn genetic diseases	Uncertain significance (Sep 17, 2021)
14-103560051-C-T		Inborn genetic diseases	Uncertain significance (Nov 12, 2021)
14-103560101-CT-C			Uncertain significance (Jun 28, 2022)
14-103560179-C-T		Inborn genetic diseases	Uncertain significance (Dec 22, 2023)
14-103560353-C-T		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)
14-103560419-A-G		Inborn genetic diseases	Uncertain significance (Aug 16, 2022)
14-103560548-C-G		Inborn genetic diseases	Uncertain significance (Sep 14, 2022)
14-103560558-G-A		Inborn genetic diseases	Uncertain significance (Apr 07, 2022)
14-103560576-G-A		Cardiomyopathy, dilated, 2F	Pathogenic (Feb 10, 2022)
14-103560716-T-C		Inborn genetic diseases	Uncertain significance (Oct 05, 2021)
14-103560776-A-G		Inborn genetic diseases	Uncertain significance (Mar 29, 2022)
14-103560822-C-T		Inborn genetic diseases	Uncertain significance (Oct 24, 2023)
14-103560828-A-G		Inborn genetic diseases	Uncertain significance (Apr 17, 2023)
14-103560832-T-C			Likely benign (Sep 01, 2022)
14-103560842-TTC-T		Cardiomyopathy	Likely pathogenic (-)
14-103560888-C-G		Cardiomyopathy, dilated, 2F	Uncertain significance (Mar 01, 2023)
14-103560891-T-G		Inborn genetic diseases	Likely benign (Jul 25, 2023)
14-103560942-T-C		Inborn genetic diseases	Uncertain significance (Dec 05, 2022)
14-103560974-A-G		Inborn genetic diseases	Uncertain significance (Dec 11, 2023)
14-103561073-C-G			Likely benign (Apr 01, 2024)
14-103561082-A-G		Inborn genetic diseases	Uncertain significance (Jun 02, 2023)
14-103561083-T-C		Inborn genetic diseases	Likely benign (Jul 28, 2021)

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

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