BAG6
BAG Cochaperone 6
Gene Information Card
| Symbol | BAG6 |
|---|---|
| Full Name | BAG Cochaperone 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 7917 ncbi.nlm.nih.gov/gene/7917 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9NYJ8 |
| OMIM ID | 605799 |
| HGNC ID | 13919 |
| Aliases | BAT3, D6S51E, G3 |
Description
BAG6 (BAG cochaperone 6) is a protein-coding gene located on chromosome 6p21.33. It encodes a large protein that functions as a cochaperone, involved in protein quality control, apoptosis, and immune regulation. BAG6 is part of the BAG family of proteins that bind to the ATPase domain of Hsp70/Hsc70 chaperones, modulating their activity. The gene is also known as BAT3 (HLA-B associated transcript 3) and plays a role in the endoplasmic reticulum-associated degradation (ERAD) pathway and in the regulation of cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | BAG6 overexpression may promote tumor cell survival by inhibiting apoptosis | COSMIC, ClinVar |
| Colorectal Cancer | Altered BAG6 expression linked to poor prognosis and chemoresistance | COSMIC, ClinVar |
| Autoimmune Diseases | BAG6 polymorphisms associated with susceptibility to rheumatoid arthritis and systemic lupus erythematosus | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph Node | 9.8 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| A549 | 7.1 | Lung carcinoma cells |
| HCT 116 | 6.5 | Colorectal carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Pro412Ser; potential loss of function |
| c.567_568insA | Frameshift | <0.01% | Truncation; loss of function |
| c.890G>A | Missense | 0.01% | p.Arg297Gln; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter cochaperone activity.
Dominant Negative (DN)
Not reported for BAG6.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • unfolded protein binding (GO:0051082) | • protein folding (GO:0006457) |
| • ubiquitin protein ligase binding (GO:0031625) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• Apoptosis signaling pathway
• Protein processing in endoplasmic reticulum
Protein Summary
The BAG6 protein (UniProt Q9NYJ8) is a 1126-amino acid cochaperone that contains a BAG domain at the C-terminus, which binds to Hsp70/Hsc70. It is localized in the cytoplasm and nucleus, and also associates with the endoplasmic reticulum. BAG6 is involved in the retrotranslocation of misfolded proteins from the ER to the cytosol for proteasomal degradation, and it modulates apoptosis by interacting with BCL2 family members. The protein is widely expressed, with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAG6 Knockout HEK293 Cell Line | EDJ-KQ3420 | Human | 7917 | Details Get a Quote |
| BAG6 Knockout A-549 Cell Line | EDJ-KQ25133 | Human | 7917 | Details Get a Quote |
| BAG6 Knockout HCT 116 Cell Line | EDJ-KQ25134 | Human | 7917 | Details Get a Quote |
| BAG6 Knockout HeLa Cell Line | EDJ-KQ25135 | Human | 7917 | Details Get a Quote |
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