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 addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to... See more...

Aliases for BAG6 Gene

Aliases for BAG6 Gene

  • BAG Cochaperone 6 2 3 5
  • G3 2 3 4
  • BAG Family Molecular Chaperone Regulator 6 3 4
  • Large Proline-Rich Protein BAG6 3 4
  • HLA-B-Associated Transcript 3 3 4
  • BCL2 Associated Athanogene 6 2 3
  • Protein Scythe 3 4
  • Protein G3 3 4
  • D6S52E 2 3
  • Scythe 2 3
  • BAG-6 3 4
  • BAT3 3 4
  • Large Proline-Rich Protein BAT3 3
  • HLA-B Associated Transcript 3 2
  • BCL2-Associated Athanogene 6 4
  • BAG6 5

External Ids for BAG6 Gene

Previous HGNC Symbols for BAG6 Gene

  • BAT3

Previous GeneCards Identifiers for BAG6 Gene

  • GC06M031392
  • GC06M031632
  • GC06M031636
  • GC06M031643
  • GC06M031648
  • GC06M031666
  • GC06M031697

Summaries for BAG6 Gene

Entrez Gene Summary for BAG6 Gene

  • 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 addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BAG6 Gene

BAG6 (BAG Cochaperone 6) is a Protein Coding gene. Diseases associated with BAG6 include Isolated Unilateral Hemispheric Cerebellar Hypoplasia and Periventricular Nodular Heterotopia. Among its related pathways are Wnt / Hedgehog / Notch. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and Hsp70 protein binding.

UniProtKB/Swiss-Prot Summary for BAG6 Gene

  • 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 these client proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate in the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).
  • Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639).
  • Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC).
  • Mediates ricin-induced apoptosis.

Gene Wiki entry for BAG6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAG6 Gene

Genomics for BAG6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BAG6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAG6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAG6

Genomic Locations for BAG6 Gene

Latest Assembly
chr6:31,639,028-31,660,900
(GRCh38/hg38)
Size:
21,873 bases
Orientation:
Minus strand

Previous Assembly
chr6:31,606,805-31,620,438
(GRCh37/hg19 by Entrez Gene)
Size:
13,634 bases
Orientation:
Minus strand

chr6:31,606,805-31,620,482
(GRCh37/hg19 by Ensembl)
Size:
13,678 bases
Orientation:
Minus strand

Genomic View for BAG6 Gene

Genes around BAG6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAG6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAG6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for BAG6 Gene

  • Protein details for BAG6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46379-BAG6_HUMAN
    Recommended name:
    Large proline-rich protein BAG6
    Protein Accession:
    P46379
    Secondary Accessions:
    • A2ADJ7
    • A3KQ42
    • A3KQ44
    • A6NGY6
    • A6PWF7
    • B0UX84
    • B4DZ12
    • B4E3V4
    • E7EMZ4
    • F8VXY4
    • O95874
    • Q5HYL9
    • Q5SQ35
    • Q5SQ36
    • Q5SQ37
    • Q5SQ41
    • Q5SRP8
    • Q5SRP9
    • Q5STC1
    • Q5STX1
    • Q5STX3
    • Q96SA6
    • Q9BCN4

    Protein attributes for BAG6 Gene

    Size:
    1132 amino acids
    Molecular mass:
    119409 Da
    Quaternary structure:
    • Component of the BAG6/BAT3 complex, also named BAT3 complex, at least composed of BAG6, UBL4A and GET4/TRC35 (PubMed:20676083). Interacts with GET4; the interaction is direct and localizes BAG6 in the cytosol (PubMed:21636303, PubMed:29042515). Interacts with UBL4A; the interaction is direct and required for UBL4A protein stability (PubMed:25713138). Interacts with AIFM1 (By similarity). Interacts with HSPA2 (By similarity). Interacts with CTCFL (PubMed:18765639). Interacts with p300/EP300 (PubMed:17403783). Interacts (via ubiquitin-like domain) with RNF126; required for BAG6-dependent ubiquitination of proteins mislocalized to the cytosol (PubMed:24981174, PubMed:27193484). Interacts (via ubiquitin-like domain) with SGTA; SGTA competes with RNF126 by binding the same region of BAG6, thereby promoting deubiquitination of BAG6-target proteins and rescuing them from degradation (PubMed:23129660, PubMed:24424410, PubMed:25179605, PubMed:27193484). Interacts with ricin A chain (PubMed:14960581). Interacts with VCP and AMFR; both form the VCP/p97-AMFR/gp78 complex (PubMed:21636303). Interacts with SYVN1 (PubMed:21636303). Interacts with USP13; the interaction is direct and may mediate UBL4A deubiquitination (PubMed:24424410). Interacts with ZFAND2B (PubMed:24160817, PubMed:26337389). Interacts with KPNA2 (PubMed:29042515). Interacts with UBQLN4 (PubMed:27113755).
    • (Microbial infection) Interacts with L. pneumophila Lpg2160 and LegU1 proteins.
    SequenceCaution:
    • Sequence=AAD18085.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB63390.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAG6 Gene

    Alternative splice isoforms for BAG6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAG6 Gene

Post-translational modifications for BAG6 Gene

  • Ricin can induce a cleavage by the caspase CASP3. The released C-terminal peptide induces apoptosis.
  • (Microbial infection) In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex.
  • Ubiquitination at Lys22, Lys40, Lys56, Lys80, Lys1049, Lys1052, and Lys1072
  • Modification sites at PhosphoSitePlus

Other Protein References for BAG6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BAG6 Gene

Domains & Families for BAG6 Gene

Gene Families for BAG6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BAG6 Gene

InterPro:
Blocks:
  • Ubiquitin domain
ProtoNet:

Suggested Antigen Peptide Sequences for BAG6 Gene

GenScript: Design optimal peptide antigens:
  • HLA-B associated transcript 3 (A2AB43_HUMAN)
  • HLA-B associated transcript 3 (A2AB44_HUMAN)
  • HLA-B associated transcript 3 (A2AB45_HUMAN)
  • HLA-B associated transcript 3 (A2AB46_HUMAN)
  • HLA-B associated transcript 3 (A2AB47_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46379

UniProtKB/Swiss-Prot:

BAG6_HUMAN :
  • The ubiquitin-like domain mediates interaction with the E3 ubiquitin-protein ligase RNF126 which is responsible for the BAG6-dependent ubiquitination of client proteins (PubMed:21743475, PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA also binds this domain and competes with RNF126 to antagonize client protein ubiquitination and degradation (PubMed:28104892). The ubiquitin-like domain also mediates the interaction with USP13 (PubMed:24424410).
Domain:
  • The ubiquitin-like domain mediates interaction with the E3 ubiquitin-protein ligase RNF126 which is responsible for the BAG6-dependent ubiquitination of client proteins (PubMed:21743475, PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA also binds this domain and competes with RNF126 to antagonize client protein ubiquitination and degradation (PubMed:28104892). The ubiquitin-like domain also mediates the interaction with USP13 (PubMed:24424410).
genes like me logo Genes that share domains with BAG6: view

Function for BAG6 Gene

Molecular function for BAG6 Gene

UniProtKB/Swiss-Prot 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 these client proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:28104892, PubMed:27193484). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate in the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333).
UniProtKB/Swiss-Prot Function:
Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639).
UniProtKB/Swiss-Prot Function:
Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC).
UniProtKB/Swiss-Prot Function:
Mediates ricin-induced apoptosis.

Phenotypes From GWAS Catalog for BAG6 Gene

Gene Ontology (GO) - Molecular Function for BAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 18852879
GO:0005515 protein binding IEA,IPI 14667819
GO:0030544 Hsp70 protein binding IPI --
GO:0031593 polyubiquitin modification-dependent protein binding IBA,ISS --
GO:0031625 ubiquitin protein ligase binding IPI 21636303
genes like me logo Genes that share ontologies with BAG6: view
genes like me logo Genes that share phenotypes with BAG6: view

Animal Models for BAG6 Gene

MGI Knock Outs for BAG6:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAG6

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAG6 Gene

Localization for BAG6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAG6 Gene

Cytoplasm, cytosol. Nucleus. Secreted, extracellular exosome. Note=Normally localized in cytosol and nucleus, it can also be released extracellularly, in exosomes, by tumor and myeloid dendritic cells (PubMed:18055229, PubMed:18852879). Cytoplasmic retention is due to interaction with GET4 (PubMed:29042515). {ECO:0000269 PubMed:18055229, ECO:0000269 PubMed:18852879, ECO:0000269 PubMed:29042515}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAG6 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA,IDA 14960581
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 21636303
GO:0005829 cytosol IEA,IDA 17403783
genes like me logo Genes that share ontologies with BAG6: view

Pathways & Interactions for BAG6 Gene

PathCards logo

SuperPathways for BAG6 Gene

SuperPathway Contained pathways
1 Wnt / Hedgehog / Notch
genes like me logo Genes that share pathways with BAG6: view

Pathways by source for BAG6 Gene

1 Cell Signaling Technology pathway for BAG6 Gene

Gene Ontology (GO) - Biological Process for BAG6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development ISS --
GO:0002376 immune system process IEA --
GO:0002429 immune response-activating cell surface receptor signaling pathway IDA 18852879
GO:0006325 chromatin organization IEA --
GO:0006511 ubiquitin-dependent protein catabolic process ISS --
genes like me logo Genes that share ontologies with BAG6: view

No data available for SIGNOR curated interactions for BAG6 Gene

Drugs & Compounds for BAG6 Gene

(1) Drugs for BAG6 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 107
genes like me logo Genes that share compounds with BAG6: view

Transcripts for BAG6 Gene

mRNA/cDNA for BAG6 Gene

60 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
33 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAG6

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for BAG6 Gene

No ASD Table

Relevant External Links for BAG6 Gene

GeneLoc Exon Structure for
BAG6

Expression for BAG6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAG6 Gene

Protein differential expression in normal tissues from HIPED for BAG6 Gene

This gene is overexpressed in Bone (23.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAG6 Gene



Protein tissue co-expression partners for BAG6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAG6

SOURCE GeneReport for Unigene cluster for BAG6 Gene:

Hs.440900

mRNA Expression by UniProt/SwissProt for BAG6 Gene:

P46379-BAG6_HUMAN
Tissue specificity: Expressed by immature dendritic cells (at protein level).

Evidence on tissue expression from TISSUES for BAG6 Gene

  • Blood(4.5)
  • Kidney(4.5)
  • Liver(4.5)
  • Nervous system(4.4)
  • Skin(4)
  • Lung(3.8)
  • Eye(3.5)
  • Intestine(3.1)
  • Lymph node(2.7)
  • Spleen(2.6)
  • Heart(2.4)
  • Bone marrow(2.4)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with BAG6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAG6 Gene

Orthologs for BAG6 Gene

This gene was present in the common ancestor of animals.

Orthologs for BAG6 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia BAG6 30 31
  • 90.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BAG6 30 31
  • 89.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bag6 30
  • 87.15 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Bag6 30 17 31
  • 86.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BAG6 31
  • 83 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BAG6 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bag6 30
  • 58.84 (n)
Str.61 30
African clawed frog
(Xenopus laevis)
Amphibia bat2-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii bag6 30 31
  • 58.75 (n)
OneToMany
BAG6 (2 of 2) 31
  • 47 (a)
OneToMany
bat3 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5950 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7546 31
  • 18 (a)
OneToOne
Species where no ortholog for BAG6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for BAG6 Gene

ENSEMBL:
Gene Tree for BAG6 (if available)
TreeFam:
Gene Tree for BAG6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAG6: view image

Paralogs for BAG6 Gene

(1) SIMAP similar genes for BAG6 Gene using alignment to 17 proteins:

  • BAG6_HUMAN
  • B0UX83_HUMAN
  • F6RG75_HUMAN
  • F6S6P2_HUMAN
  • F6TC96_HUMAN
  • F6U1F2_HUMAN
  • F6U341_HUMAN
  • F6UR09_HUMAN
  • F6VEM6_HUMAN
  • F6WML8_HUMAN
  • F6X9W3_HUMAN
  • F6XTU0_HUMAN
  • H0Y4L1_HUMAN
  • H0Y583_HUMAN
  • H0Y710_HUMAN
  • H0Y759_HUMAN
  • H0Y7K4_HUMAN
genes like me logo Genes that share paralogs with BAG6: view

No data available for Paralogs for BAG6 Gene

Variants for BAG6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAG6 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs115963254 Benign: not provided 31,649,373(-) G/A
NM_080702.3(BAG6):c.249C>T (p.His83=)
SYNONYMOUS
rs1281308977 Uncertain Significance: Cerebellar vermis hypoplasia; Periventricular nodular heterotopia; Isolated unilateral hemispheric cerebellar hypoplasia 31,639,205(-) G/A
NM_080703.3(BAG6):c.3307C>T (p.Arg1103Ter)
NONSENSE
rs142878083 Likely Benign: not provided 31,641,339(-) C/T
NM_080702.3(BAG6):c.2535G>A (p.Ala845=)
SYNONYMOUS
rs148136430 Benign: not provided 31,639,644(-) C/T
NM_001199697.1(BAG6):c.2617-418G>A
SYNONYMOUS_VARIANT,INTRON
rs35843778 Benign: not provided 31,645,010(-) C/T
NM_080702.3(BAG6):c.1305G>A (p.Pro435=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BAG6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BAG6 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv1161370 CNV deletion 26073780
nsv462871 CNV loss 19166990
nsv601942 CNV loss 21841781
nsv830627 CNV loss 17160897

Variation tolerance for BAG6 Gene

Residual Variation Intolerance Score: 1.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAG6 Gene

Human Gene Mutation Database (HGMD)
BAG6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAG6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAG6 Gene

Disorders for BAG6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BAG6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
isolated unilateral hemispheric cerebellar hypoplasia
periventricular nodular heterotopia
  • periventricular heterotopia
non-invasive bladder papillary urothelial neoplasm
  • bladder papillary neoplasm of low malignant potential
- elite association - COSMIC cancer census association via MalaCards
Search BAG6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAG6

genes like me logo Genes that share disorders with BAG6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAG6 Gene

Publications for BAG6 Gene

  1. A gene pair from the human major histocompatibility complex encodes large proline-rich proteins with multiple repeated motifs and a single ubiquitin-like domain. (PMID: 2156268) Banerji J … Spies T (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 23
  2. Human leukocyte antigen-B-associated transcript 3 is released from tumor cells and engages the NKp30 receptor on natural killer cells. (PMID: 18055229) Pogge von Strandmann E … Engert A (Immunity 2007) 3 4 23
  3. Structural basis for regulation of the nucleo-cytoplasmic distribution of Bag6 by TRC35. (PMID: 29042515) Mock JY … Clemons WM (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4
  4. UBQLN4 recognizes mislocalized transmembrane domain proteins and targets these to proteasomal degradation. (PMID: 27113755) Suzuki R … Kawahara H (EMBO reports 2016) 3 4
  5. Structural and functional insights into the E3 ligase, RNF126. (PMID: 27193484) Krysztofinska EM … Isaacson RL (Scientific reports 2016) 3 4

Products for BAG6 Gene