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The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
BOK (BCL2 Family Apoptosis Regulator BOK) is a Protein Coding gene. Diseases associated with BOK include Chromosome 2Q37 Deletion Syndrome and Water-Clear Cell Adenoma. Among its related pathways are Apoptosis Modulation and Signaling and TP53 Network. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein dimerization activity. An important paralog of this gene is MCL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0005515 | protein binding | IPI | 15868100 |
GO:0031625 | ubiquitin protein ligase binding | IEA | -- |
GO:0042803 | protein homodimerization activity | IBA,ISS | -- |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 16302269 |
GO:0005640 | nuclear outer membrane | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 15868100 |
GO:0005739 | mitochondrion | IEA,IDA | 15102863 |
GO:0005741 | mitochondrial outer membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis Modulation and Signaling |
.41
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2 | Apoptosis and Autophagy | ||
3 | Nanomaterial induced apoptosis | ||
4 | Regulation of Apoptosis by Parathyroid Hormone-related Protein | ||
5 | TP53 Network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001836 | release of cytochrome c from mitochondria | IDA | 27505430 |
GO:0006915 | apoptotic process | IEA,IDA | 15102863 |
GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IMP | 20673843 |
GO:0006921 | cellular component disassembly involved in execution phase of apoptosis | ISS | -- |
GO:0007420 | brain development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
AT-101 | Approved, Investigational | Pharma | BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors | 91 | ||
Gossypol | Investigational | Pharma | PAF inhibitor;anti-fertility and anti-cancer | 24 | ||
Bax inhibitor peptide P5 | Pharma | Bax inhibitor | 0 | |||
Bax inhibitor peptide V5 | Pharma | Bax inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
AT-101 | BH3-mimetic,gossypol enantiomer | 90141-22-3 |
Bax inhibitor peptide P5 | Bax inhibitor | 579492-83-4 |
Bax inhibitor peptide V5 | Bax inhibitor | 579492-81-2 |
Gossypol | PAF inhibitor;anti-fertility and anti-cancer | 303-45-7 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||
SP5: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BOK 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BOK 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BOK 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bok 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bok 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BOK 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BOK 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BOK 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BOK 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bok 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | boka 30 31 |
|
OneToMany | |
bokb 31 |
|
OneToMany | |||
zgc64041 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Buffy 30 31 |
|
OneToMany | |
debcl 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2249 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7390n54 | CNV | loss | 21841781 |
dgv7391n54 | CNV | loss | 21841781 |
dgv7392n54 | CNV | loss | 21841781 |
dgv7393n54 | CNV | loss | 21841781 |
dgv7394n54 | CNV | loss | 21841781 |
esv2233361 | CNV | deletion | 18987734 |
esv2634239 | CNV | deletion | 19546169 |
esv2668476 | CNV | deletion | 23128226 |
esv27015 | CNV | gain | 19812545 |
esv2722008 | CNV | deletion | 23290073 |
esv2722009 | CNV | deletion | 23290073 |
esv2722010 | CNV | deletion | 23290073 |
esv2759120 | CNV | loss | 17122850 |
esv27771 | CNV | loss | 19812545 |
esv3561311 | CNV | deletion | 23714750 |
esv3594835 | CNV | loss | 21293372 |
esv3594836 | CNV | loss | 21293372 |
esv9037 | CNV | loss | 19470904 |
nsv1153946 | CNV | deletion | 26484159 |
nsv584960 | CNV | loss | 21841781 |
nsv584966 | CNV | loss | 21841781 |
nsv584970 | CNV | loss | 21841781 |
nsv584971 | CNV | gain | 21841781 |
nsv834588 | CNV | loss | 17160897 |
nsv955299 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 2q37 deletion syndrome |
|
|
water-clear cell adenoma |
|
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vitreoretinal degeneration, snowflake type |
|
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myelodysplastic syndrome |
|
|