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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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Wnt / Hedgehog / Notch |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Carbamazepine | Approved, Investigational | Pharma | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 107 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | BAG6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BAG6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bag6 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Bag6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BAG6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BAG6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bag6 30 |
|
||
Str.61 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | bat2-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bag6 30 31 |
|
OneToMany | |
BAG6 (2 of 2) 31 |
|
OneToMany | |||
bat3 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5950 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7546 31 |
|
OneToOne |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
isolated unilateral hemispheric cerebellar hypoplasia |
|
|
periventricular nodular heterotopia |
|
|
non-invasive bladder papillary urothelial neoplasm |
|
|