BAG6 (BAG cochaperone 6)

Gene

• Entrez ID: 7917
• Gene name: BAG cochaperone 6
• Gene symbol: BAG6
• Synonyms (NCBI Gene): BAG-6, BAT3, D6S52E, G3
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025262	hsa-miR-34a-5p	Proteomics	21566225
MIRT025262	hsa-miR-34a-5p	Proteomics	21566225
MIRT031479	hsa-miR-16-5p	Proteomics	18668040
MIRT051911	hsa-let-7b-5p	CLASH	23622248
MIRT049283	hsa-miR-92a-3p	CLASH	23622248
MIRT046630	hsa-miR-222-3p	CLASH	23622248
MIRT043997	hsa-miR-378a-5p	CLASH	23622248
MIRT043466	hsa-miR-331-3p	CLASH	23622248
MIRT041655	hsa-miR-484	CLASH	23622248
MIRT041655	hsa-miR-484	CLASH	23622248
MIRT041258	hsa-miR-193b-3p	CLASH	23622248
MIRT041258	hsa-miR-193b-3p	CLASH	23622248
MIRT040645	hsa-miR-92b-3p	CLASH	23622248
MIRT039860	hsa-miR-615-3p	CLASH	23622248
MIRT039860	hsa-miR-615-3p	CLASH	23622248
MIRT037504	hsa-miR-744-5p	CLASH	23622248
MIRT037504	hsa-miR-744-5p	CLASH	23622248
MIRT036783	hsa-miR-760	CLASH	23622248
MIRT036531	hsa-miR-1226-3p	CLASH	23622248
MIRT441129	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441129	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT2179906	hsa-miR-1252	CLIP-seq
MIRT2179907	hsa-miR-200b	CLIP-seq
MIRT2179908	hsa-miR-200c	CLIP-seq
MIRT2179909	hsa-miR-3611	CLIP-seq
MIRT2179910	hsa-miR-429	CLIP-seq
MIRT2179911	hsa-miR-4318	CLIP-seq
MIRT2179912	hsa-miR-4693-5p	CLIP-seq
MIRT2179913	hsa-miR-553	CLIP-seq
MIRT2179914	hsa-miR-625	CLIP-seq
MIRT2179915	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0002376	Process	Immune system process	IEA
GO:0002429	Process	Immune response-activating cell surface receptor signaling pathway	IDA	18852879
GO:0005102	Function	Signaling receptor binding	IPI	18852879
GO:0005515	Function	Protein binding	IPI	14667819, 14960581, 16189514, 17403783, 18055229, 18765639, 18852879, 21903422, 22046132, 22807449, 23246001, 24133212, 25036637, 25416956, 25535373, 25713138, 26496610, 26876100, 27113755, 28514442, 29042515, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	14960581, 17403783, 21636303, 29042515
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21636303
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17403783, 20676083, 23246001, 29042515
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	NAS	25535373
GO:0006325	Process	Chromatin organization	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	20676083
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	ISS
GO:0006620	Process	Post-translational protein targeting to endoplasmic reticulum membrane	IDA	25535373
GO:0006915	Process	Apoptotic process	IDA	14960581
GO:0006915	Process	Apoptotic process	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007130	Process	Synaptonemal complex assembly	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0010498	Process	Proteasomal protein catabolic process	IMP	26565908
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	23246001
GO:0018393	Process	Internal peptidyl-lysine acetylation	IDA	17403783
GO:0030101	Process	Natural killer cell activation	IDA	18852879
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0030544	Function	Hsp70 protein binding	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	21636303, 24981174
GO:0031647	Process	Regulation of protein stability	IDA	21636303
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IDA	23129660, 24981174
GO:0036503	Process	ERAD pathway	IMP	26565908
GO:0036503	Process	ERAD pathway	NAS	21636303
GO:0036506	Process	Maintenance of unfolded protein	IMP	21636303
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	17403783
GO:0042802	Function	Identical protein binding	IPI	24133212
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043022	Function	Ribosome binding	IDA	20676083
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0045861	Process	Negative regulation of proteolysis	IEA
GO:0045861	Process	Negative regulation of proteolysis	ISS
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0048018	Function	Receptor ligand activity	IDA	18852879
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0051132	Process	NK T cell activation	IDA	18852879
GO:0051132	Process	NK T cell activation	IDA	18852879
GO:0051787	Function	Misfolded protein binding	IBA
GO:0051787	Function	Misfolded protein binding	IDA	21636303
GO:0060090	Function	Molecular adaptor activity	EXP	25713138
GO:0061857	Process	Endoplasmic reticulum stress-induced pre-emptive quality control	IMP	26565908
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070062	Component	Extracellular exosome	IDA	18852879
GO:0070628	Function	Proteasome binding	IEA
GO:0070628	Function	Proteasome binding	ISS
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IDA	20676083, 25535373
GO:0071818	Component	BAT3 complex	IBA
GO:0071818	Component	BAT3 complex	IDA	20676083, 21636303, 25535373
GO:0071818	Component	BAT3 complex	IPI	25535373
GO:0140597	Function	Protein carrier chaperone	IDA	21636303
GO:1904294	Process	Positive regulation of ERAD pathway	IMP	24424410
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	24424410

Other IDs

• MIM: 142590
• HGNC: 13919
• e!Ensembl: ENSG00000204463

Protein

• UniProt ID: P46379
• Protein name: Large proline-rich protein BAG6 (BAG family molecular chaperone regulator 6) (BCL2-associated athanogene 6) (BAG-6) (HLA-B-associated transcript 3) (Protein G3) (Protein Scythe)
• Protein function: ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains t
• PDB: 1WX9, 2N9P, 4DWF, 4EEW, 4WWR, 4X86, 6AU8, 7RU9, 7RUA, 7RUC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	19 → 89	Ubiquitin family	Domain
  PF12057	BAG6	276 → 392	BCL2-associated athanogene 6	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by immature dendritic cells (at protein level). {ECO:0000269|PubMed:18852879}.
• Sequence:

  MEPNDSTSTAVEEPDSLEVLVKTLDSQTRTFIVGAQMNVKEFKEHIAASVSIPSEKQRLI
  YQGRVLQDDKKLQEYNVGGKVIHLVERAPPQTHLPSGASSGTGSASATHGGGSPPGTRGP
  GASVHDRNANSYVMVGTFNLPSDGSAVDVHINMEQAPIQSEPRVRLVMAQHMIRDIQTLL
  SRMETLPYLQCRGGPQPQHSQPPPQPPAVTPEPVALSSQTSEPVESEAPPREPMEAEEVE
  ERAPAQNPELTPGPAPAGPTPAPETNAPNHPSPAEYVEVLQELQRLESRLQPFLQRYYEV
  LGAAATTDYNNNHEGREEDQRLINLVGESLRLLGNTFVALSDLRCNLACTPPRHLHVVRP
  MSHYTTPMVLQQAAIPIQINVGTTVTMTGNGTRPPPTPNAEAPPPGPGQASSVAPSSTNV
  ESSAEGAPPPGPAPPPATSHPRVIRISHQSVEPVVMMHMNIQDSGTQPGGVPSAPTGPLG
  PPGHGQTLGQQVPGFPTAPTRVVIARPTPPQARPSHPGGPPVSGTLQGAGLGTNASLAQM
  VSGLVGQLLMQPVLVAQGTPGMAPPPAPATASASAGTTNTATTAGPAPGGPAQPPPTPQP
  SMADLQFSQLLGNLLGPAGPGAGGSGVASPTITVAMPGVPAFLQGMTDFLQATQTAPPPP
  PPPPPPPPAPEQQTMPPPGSPSGGAGSPGGLGLESLSPEFFTSVVQGVLSSLLGSLGARA
  GSSESIAAFIQRLSGSSNIFEPGADGALGFFGALLSLLCQNFSMVDVVMLLHGHFQPLQR
  LQPQLRSFFHQHYLGGQEPTPSNIRMATHTLITGLEEYVRESFSLVQVQPGVDIIRTNLE
  FLQEQFNSIAAHVLHCTDSGFGARLLELCNQGLFECLALNLHCLGGQQMELAAVINGRIR
  RMSRGVNPSLVSWLTTMMGLRLQVVLEHMPVGPDAILRYVRRVGDPPQPLPEEPMEVQGA
  ERASPEPQRENASPAPGTTAEEAMSRGPPPAPEGGSRDEQDGASAETEPWAAAVPPEWVP
  IIQQDIQSQRKVKPQPPLSDAYLSGMPAKRRKTMQGEGPQLLLSEAVSRAAKAAGARPLT
  SPESLSRDLEAPEVQESYRQQLRSDIQKRLQEDPNYSPQRFPNAQRAFADDP

• Sequence length: 1132

Pathways

KEGG:

Protein export

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cerebellar vermis hypoplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated unilateral hemispheric cerebellar hypoplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular nodular heterotopia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39201500	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	34741163	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	37296624	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	20626023		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29706626	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18757527, 24989925, 25430685, 25884493, 29110844		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35499292	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23509156		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	20626023	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	39201500	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	25231575		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27515906	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21041953		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30021652		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24861996	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	20385987	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28197361		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	39513882	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	33446692	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASDB_DG	24149102		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37175507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASDB_DG	21909115		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	21909115		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	34741163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	29706626, 30556603		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18757527, 20106900, 25884493, 35499292, 37307368	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24954872		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24244368	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18757527, 24989925, 25430685, 25884493, 29110844		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24954872		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	20626023	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18055229		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24133212, 31647545		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24629137		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25884493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	27515906	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25231575	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	25231575		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	25231575		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	19018758		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19018758	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34589554	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37176017	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37307368	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	24861996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	BEFREE	24861996		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	24861996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations