Summary of BCL2
Suppresses controlled cell death in a number of cell systems. The regulatory role is dependent upon this gene's control of mitochondrial membrane permeability.
The Function of BCL2
Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
Protein names
Recommended name:
Apoptosis regulator Bcl-2- RS12454712 (BCL2) ??
- RS139419907 (BCL2) ??
- RS1564483 (BCL2) ??
- RS17749561 (BCL2) ??
- RS1801018 (BCL2) ??
- RS2279115 (BCL2) ??
- RS4940576 (BCL2) ??
- RS4987852 (BCL2) ??
- RS4987855 (BCL2) ??
- RS899967 (BCL2) ??
- RS956572 (BCL2) ??
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Top Gene-Substance Interactions
BCL2 Interacts with These Diseases
| Disease | Score |
Substances That Increase BCL2
| Substances | Interaction | Organism | Category |
Substances That Decrease BCL2
| Substances | Interaction | Organism | Category |
Advanced Summary
A chromosomal aberration involving BCL2 has been found in chronic lymphatic leukemia. Translocation t(14;18)(q32;q21) with immunoglobulin gene regions. BCL2 mutations found in non-Hodgkin lymphomas carrying the chromosomal translocation could be attributed to the Ig somatic hypermutation mechanism resulting in nucleotide transitions.
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.
Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
Damage to the Bcl-2 gene has been identified as a cause of a number of cancers, including melanoma, breast, prostate, chronic lymphocytic leukemia, and lung cancer, and a possible cause of schizophrenia and autoimmunity. It is also a cause of resistance to cancer treatments.[citation needed]
Cancer[edit]
Cancer can be seen as a disturbance in the homeostatic balance between cell growth and cell death. Over-expression of anti-apoptotic genes, and under-expression of pro-apoptotic genes, can result in the lack of cell death that is characteristic of cancer. An example can be seen in lymphomas. The over-expression of the anti-apoptotic Bcl-2 protein in lymphocytes alone does not cause cancer. But simultaneous over-expression of Bcl-2 and the proto-oncogene myc may produce aggressive B-cell malignancies including lymphoma.[10] In follicular lymphoma, a chromosomal translocation commonly occurs between the fourteenth and the eighteenth chromosomes — t(14;18) — which places the Bcl-2 gene from chromosome 18 next to the immunoglobulin heavy chain locus on chromosome 14. This fusion gene is deregulated, leading to the transcription of excessively high levels of Bcl-2.[11]This decreases the propensity of these cells for apoptosis.
Auto-immune diseases[edit]
Apoptosis plays an active role in regulating the immune system. When it is functional, it can cause immune unresponsiveness to self-antigens via both central and peripheral tolerance. In the case of defective apoptosis, it may contribute to etiological aspects of autoimmune diseases.[12] The autoimmune disease type 1 diabetes can be caused by defective apoptosis, which leads to aberrant T cell AICD and defective peripheral tolerance. Due to the fact that dendritic cells are the immune system's most important antigen-presenting cells, their activity must be tightly regulated by mechanisms such as apoptosis. Researchers have found that mice containing dendritic cells that are Bim -/-, thus unable to induce effective apoptosis, suffer autoimmune diseases more so than those that have normal dendritic cells.[12] Other studies have shown that dendritic cell lifespan may be partly controlled by a timer dependent on anti-apoptotic Bcl-2.[12]
Other[edit]
Apoptosis plays an important role in regulating a variety of diseases. For example, schizophrenia is a neurodegenerative disease that may result from an abnormal ratio of pro- and anti-apoptotic factors.[13]Some evidence suggests that this may result from abnormal expression of Bcl-2 and increased expression of caspase-3.[13]
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in a variety of tissues.
Gene Pathways:
Molecular Function:
- Protease Binding
- Channel Activity
- Channel Inhibitor Activity
- Ubiquitin Protein Ligase Binding
- Identical Protein Binding
- Protein Homodimerization Activity
- Sequence-Specific Dna Binding
- Protein Heterodimerization Activity
- Bh3 Domain Binding
Biological Processes:
- Protein Polyubiquitination
- Ossification
- Ovarian Follicle Development
- Metanephros Development
- Branching Involved In Ureteric Bud Morphogenesis
- Behavioral Fear Response
- B Cell Homeostasis
- Release Of Cytochrome C From Mitochondria
- Regulation Of Cell-Matrix Adhesion
- Lymphoid Progenitor Cell Differentiation
- B Cell Lineage Commitment
- Response To Ischemia
- Renal System Process
- Protein Dephosphorylation
- Melanin Metabolic Process
- Regulation Of Nitrogen Utilization
- Apoptotic Process
- Humoral Immune Response
- Cellular Response To Dna Damage Stimulus
- Actin Filament Organization
- Axonogenesis
- Female Pregnancy
- Cell Aging
- Male Gonad Development
- Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors
- Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage
- Intrinsic Apoptotic Signaling Pathway In Response To Oxidative Stress
- Response To Radiation
- Response To Toxic Substance
- Post-Embryonic Development
- Response To Iron Ion
- Response To Uv-B
- Response To Gamma Radiation
- Regulation Of Gene Expression
- Negative Regulation Of Autophagy
- Negative Regulation Of Calcium Ion Transport Into Cytosol
- Regulation Of Glycoprotein Biosynthetic Process
- Mesenchymal Cell Development
- Positive Regulation Of Neuron Maturation
- Positive Regulation Of Smooth Muscle Cell Migration
- Cell Growth
- Peptidyl-Serine Phosphorylation
- Peptidyl-Threonine Phosphorylation
- Cochlear Nucleus Development
- Gland Morphogenesis
- Regulation Of Transmembrane Transporter Activity
- Negative Regulation Of Ossification
- Positive Regulation Of Cell Growth
- Negative Regulation Of Cell Growth
- Melanocyte Differentiation
- Negative Regulation Of Cell Migration
- Positive Regulation Of B Cell Proliferation
- Hair Follicle Morphogenesis
- Regulation Of Protein Stability
- Axon Regeneration
- Endoplasmic Reticulum Calcium Ion Homeostasis
- Glomerulus Development
- Negative Regulation Of Cellular Ph Reduction
- Negative Regulation Of Myeloid Cell Apoptotic Process
- T Cell Differentiation In Thymus
- Positive Regulation Of Peptidyl-Serine Phosphorylation
- Negative Regulation Of Osteoblast Proliferation
- Response To Cytokine
- Response To Nicotine
- Organ Growth
- Positive Regulation Of Multicellular Organism Growth
- B Cell Proliferation
- Cellular Response To Glucose Starvation
- Response To Hydrogen Peroxide
- T Cell Homeostasis
- Negative Regulation Of Apoptotic Process
- Positive Regulation Of Catalytic Activity
- Cd8-Positive, Alpha-Beta T Cell Lineage Commitment
- Regulation Of Protein Homodimerization Activity
- Regulation Of Protein Heterodimerization Activity
- Negative Regulation Of Neuron Apoptotic Process
- Ear Development
- Regulation Of Viral Genome Replication
- Positive Regulation Of Melanocyte Differentiation
- Negative Regulation Of Retinal Cell Programmed Cell Death
- Regulation Of Mitochondrial Membrane Permeability
- Focal Adhesion Assembly
- Spleen Development
- Thymus Development
- Digestive Tract Morphogenesis
- Oocyte Development
- Positive Regulation Of Skeletal Muscle Fiber Development
- Pigment Granule Organization
- Homeostasis Of Number Of Cells Within A Tissue
- B Cell Receptor Signaling Pathway
- Response To Glucocorticoid
- Neuron Apoptotic Process
- Defense Response To Virus
- Regulation Of Mitochondrial Membrane Potential
- Negative Regulation Of Mitochondrial Depolarization
- Regulation Of Calcium Ion Transport
- Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress
- Cellular Response To Organic Substance
- Cellular Response To Hypoxia
- Reactive Oxygen Species Metabolic Process
- Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
- Positive Regulation Of Protein Insertion Into Mitochondrial Membrane Involved In Apoptotic Signaling Pathway
- Negative Regulation Of G1/S Transition Of Mitotic Cell Cycle
- Negative Regulation Of Reactive Oxygen Species Metabolic Process
- Negative Regulation Of Anoikis
- Negative Regulation Of Apoptotic Signaling Pathway
- Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
- Negative Regulation Of Intrinsic Apoptotic Signaling Pathway
- Positive Regulation Of Intrinsic Apoptotic Signaling Pathway