BAG4

BAG cochaperone 4, the group of BAG cochaperones

Basic information

Region (hg38): 8:38176532-38213301

Links

ENSG00000156735 ∙ NCBI:9530 ∙ OMIM:603884 ∙ HGNC:940 ∙ Uniprot:O95429 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BAG4 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAG4 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						0
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in BAG4

This is a list of pathogenic ClinVar variants found in the BAG4 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-38176942-G-A			Likely benign (Jan 01, 2023)
8-38176967-C-A		not specified	Uncertain significance (Sep 27, 2022)
8-38176988-G-T		not specified	Uncertain significance (May 10, 2022)
8-38177062-G-A		not specified	Uncertain significance (Jan 23, 2024)
8-38177087-A-G		not specified	Uncertain significance (Nov 01, 2022)
8-38192737-C-T		not specified	Uncertain significance (Mar 04, 2024)
8-38207528-C-A		not specified	Uncertain significance (Jun 28, 2022)
8-38207558-C-G		not specified	Uncertain significance (Nov 20, 2023)
8-38207587-T-G		not specified	Uncertain significance (Mar 23, 2023)
8-38207599-T-C		not specified	Uncertain significance (Apr 18, 2023)
8-38207599-T-G		not specified	Uncertain significance (Dec 27, 2023)
8-38207691-G-T		not specified	Uncertain significance (Feb 23, 2023)
8-38207692-A-C		not specified	Uncertain significance (Jan 08, 2024)
8-38207729-C-A		not specified	Uncertain significance (Apr 04, 2023)
8-38207741-A-G		not specified	Uncertain significance (Mar 07, 2023)
8-38209121-G-A		not specified	Uncertain significance (Aug 10, 2023)
8-38209136-G-A		not specified	Uncertain significance (Dec 20, 2023)
8-38209179-G-A		not specified	Uncertain significance (Jan 23, 2024)
8-38209230-C-G		not specified	Uncertain significance (Jul 17, 2023)
8-38209241-C-G		not specified	Uncertain significance (Jan 23, 2024)
8-38210010-T-G		not specified	Uncertain significance (Mar 06, 2023)
8-38210041-A-T		not specified	Uncertain significance (Aug 30, 2022)
8-38210099-T-C		not specified	Uncertain significance (Dec 18, 2023)
8-38210117-A-G		not specified	Uncertain significance (Feb 23, 2023)
8-38210138-A-G		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAG4	protein_coding	protein_coding	ENST00000287322	5	36769

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000187	0.995	125605	0	143	125748	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.105	258	253	1.02	0.0000129	2880
Missense in Polyphen		60	71.285	0.84169		920
Synonymous	1.62	77	97.3	0.791	0.00000507	953
Loss of Function	2.47	10	22.7	0.440	0.00000107	263

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000393
Ashkenazi Jewish	0.0102	0.0103
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000984	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria. {ECO:0000250, ECO:0000269|PubMed:24270810}.
• Pathway: TNF signaling pathway - Homo sapiens (human);Oxidative Damage;Disease;Signal Transduction;tnfr1 signaling pathway;hiv-1 nef: negative effector of fas and tnf;tnf/stress related signaling;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;ceramide signaling pathway;Cellular responses to external stimuli;TNF signaling;sodd/tnfr1 signaling pathway;Cellular response to heat stress;Death Receptor Signalling;Signaling by FGFR in disease;Signaling by plasma membrane FGFR1 fusions;TNFalpha;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;HIV-1 Nef: Negative effector of Fas and TNF-alpha;TNF receptor signaling pathway ;Diseases of signal transduction;Ceramide signaling pathway (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• loftool: 0.396
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.259
• hipred: Y
• hipred_score: 0.664
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bag4
• Phenotype: normal phenotype; hematopoietic system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein folding;positive regulation of fibroblast migration;positive regulation of actin filament polymerization;positive regulation of peptidyl-serine phosphorylation;tumor necrosis factor-mediated signaling pathway;negative regulation of apoptotic process;positive regulation of cell adhesion;positive regulation of stress fiber assembly;positive regulation of protein kinase B signaling;cellular response to tumor necrosis factor;cellular response to epidermal growth factor stimulus;protein localization to plasma membrane;ruffle assembly;regulation of cellular response to heat;negative regulation of protein targeting to mitochondrion;negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
• Cellular component: nucleus;cytosol;plasma membrane
• Molecular function: adenyl-nucleotide exchange factor activity;RNA binding;protein binding;ubiquitin protein ligase binding;chaperone binding