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This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
BCL2 (BCL2 Apoptosis Regulator) is a Protein Coding gene. Diseases associated with BCL2 include High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement and Follicular Lymphoma 1. Among its related pathways are Apoptosis Modulation and Signaling and Nur77 Signaling in T-Cell. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is BCL2L1.
Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IDA | 10620603 |
GO:0005515 | protein binding | IPI | 7954800 |
GO:0008134 | transcription factor binding | IEA | -- |
GO:0015267 | channel activity | IDA | 9219694 |
GO:0016248 | channel inhibitor activity | IDA | 9219694 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IDA | 7546744 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IDA | 7546744 |
GO:0005739 | mitochondrion | IEA,IDA | 7896880 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
|
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
|
2 | TNFR1 Pathway |
Apoptosis and survival TNFR1 signaling pathway
.52
Apoptotic Pathways Triggered By HIV1
.42
|
Apoptosis through Death Receptors
.42
.34
|
3 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.41
|
4 | Apoptosis Modulation and Signaling |
.41
|
Apoptosis and survival Apoptotic TNF-family pathways
.35
.31
|
5 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
|
p53 Mediated Apoptosis
.84
DHA Signaling
.74
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IDA | 16717086 |
GO:0000902 | cell morphogenesis | IEA | -- |
GO:0001503 | ossification | IEA | -- |
GO:0001541 | ovarian follicle development | IEA | -- |
GO:0001656 | metanephros development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Paclitaxel | Approved, Vet_approved | Pharma | Target, inhibitor, Biomarker, binder | Tubulin and Bcl2 inhibitor, Taxanes | 3701 | |
Docetaxel | Approved, Investigational | Pharma | Target, Inhibition, inhibitor, Biomarker | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | |
AT-101 | Approved, Investigational | Pharma | Target, inhibitor | BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors | 86 | |
Venetoclax | Approved, Investigational | Pharma | Target, inhibitor | Bcl-2 inhibitor,potent and selective | 245 | |
Carboplatin | Approved | Pharma | Biomarker | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
AT 101 |
|
90141-22-3 |
|
|
||
SMBA 1 |
|
906440-37-7 |
|
|
Compound | Action | Cas Number |
---|---|---|
(+)-Apogossypol | 66389-74-0 | |
ABT-199 | Bcl-2 inhibitor,potent and selective | 1257044-40-8 |
ABT-263 (Navitoclax) | Potent Bcl-2 family inhibitor, inhibits Bcl-2, Bcl-xL, and Bcl-w | 923564-51-6 |
ABT-737 | Bcl-2 inhibitor | 852808-04-9 |
Apogossypolone (ApoG2) | Bcl-2 inhibitor,nonpeptidic small molecule | 886578-07-0 |
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 |
Bcl Family Set I | Bcl family inhibitors | |
BDA-366 | Selective antagonist of BCL2 BH4 domain | |
BIM, Biotinylated | ||
Gossypol | PAF inhibitor;anti-fertility and anti-cancer | 303-45-7 |
HA14-1 | Bcl-2 inhibitor,potent and cell-permeable | 65673-63-4 |
Lomustine | Antineoplastic drug | 13010-47-4 |
Mitomycin C | Inhibits DNA synthesis,antibiotic and antitumor agent | 1950-07-7 |
Muristerone A | TRAIL- and hFasL-induced apoptosis inhibitor | 38778-30-2 |
Obatoclax mesylate (GX15-070) | Potent Bcl-2 inhibitor | 803712-79-0 |
Pyridoclax | ||
Radotinib(IY-5511) | Bcl-Abl tyrosine kinase inhibitor | 926037-48-1 |
Sabutoclax | pan-Bcl-2 inhibitor | 1228108-65-3 |
TW-37 | Bcl-2 inhibitor, inhibits Bcl-2,Bcl-XL and Mcl-1 | 877877-35-5 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BCL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BCL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BCL2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bcl2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bcl2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BCL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BCL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BCL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcl2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | BCL2 (2 of 2) 31 |
|
OneToMany | |
bcl2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709183 | Likely Benign: not provided | 63,318,208(-) | G/A | SYNONYMOUS_VARIANT | |
VAR_000828 | Non-Hodgkin lymphoma | p.Pro59Ser | |||
VAR_000829 | Non-Hodgkin lymphoma | p.Val93Ile | |||
rs1800477 | - | p.Ala43Thr | |||
VAR_000827 | - | p.Thr7Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement |
|
|
follicular lymphoma 1 |
|
|
intravascular large b-cell lymphoma |
|
|
lymphoma |
|
|
follicular lymphoma |
|