BCL2 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | BCL2 |
| Official Name | BCL2 apoptosis regulator [Source:HGNC Symbol;Acc:HGNC:990] |
| Ensembl ID | ENSG00000171791 |
| Bio databases IDs | |
| Aliases | BCL2 apoptosis regulator, protein phosphatase 1, regulatory subunit 50 |
| Synonyms | B cell leukaemia/lymphoma 2, B cell leukemia/lymphoma 2, Bcl2 alpha, BCL2 apoptosis regulator, BCL2, apoptosis regulator, Bcl2 α, C430015F12Rik, D630044D05RIK, D830018M01RIK, LOC100046608, ORF16, PPP1R50 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BCL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bcl-2_like
- regulatory domain
- transcription factor binding
- identical protein binding
- Bcl-2 homology region 4
- Prp binding domain
- Bcl-2 homology 1 domain
- Caspase 3 cleavage site
- Bcl-2 homology 3 domain
- serine phosphorylation site
- loop domain
- apoptosis regulator
- ubiquitin protein ligase binding
- mitochondrial presequence
- protease binding
- channel/pore class transporter
- protein phosphatase binding
- negative regulatory domain
- alpha helix
- channel inhibitor
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- threonine phosphorylation site
- phosphorylation site
- BH3 binding domain
- binding protein
- flexible loop regulatory domain
- Bcl-2 homology 2 domain
- transmembrane domain
- protein heterodimerization
- transporter
- hydrophobic domain
Pathways
Biological processes and signaling networks where the BCL2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Apoptosis Signaling
- Autophagy
- Ceramide Signaling
- Death Receptor Signaling
- DNA damage-induced 14-3-3σ Signaling
- Docosahexaenoic Acid (DHA) Signaling
- EIF2 Signaling
- Glucocorticoid Receptor Signaling
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- IL-7 Signaling Pathway
- Induction of Apoptosis by HIV1
- Interferon Signaling
- Melanocyte Development and Pigmentation Signaling
- Molecular Mechanisms of Cancer
- Nur77 Signaling in T Lymphocytes
- p53 Signaling
- Pancreatic Adenocarcinoma Signaling
- PEDF Signaling
- Role of JAK2 in Hormone-like Cytokine Signaling
- Role of MAPK Signaling in the Pathogenesis of Influenza
- Small Cell Lung Cancer Signaling
- Unfolded protein response
- VEGF Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mantle cell lymphoma
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- neoplasia
- multiple sclerosis
- prostate cancer
- pain
- infection
- cancer
- epithelial cancer
role in cell
- signaling in
- number
- maturation
- phosphorylation in
- cell death
- apoptosis
- inhibition in
- permeability transition
- production in
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- nuclear fraction
- soluble fraction
- endoplasmic reticulum fraction
- nuclear membrane fraction
- membrane fraction
- mitochondrial fraction
- intracellular compartment
- intracellular structures
- cytoskeleton
- cell surface
- intracellular space
- basal compartment
- perinuclear region
- intracellular membranes
- cellular membrane
- Nucleus
- Plasma Membrane
- Endoplasmic Reticulum
- Mitochondria
- granules
- cytosol
- endoplasmic reticulum membrane
- outer leaflet
- mitochondrial membrane
- mitochondria-associated membranes
- mitochondrial outer membrane
- mitochondrial inner membrane
- nuclear envelope
- myelin sheath
- perikaryon
- axons
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- post-embryonic development
- response to radiation
- actin filament organization
- induction of apoptosis via death domain receptors
- calcium ion transport into cytosol
- negative regulation of cellular pH reduction
- positive regulation of cell growth
- negative regulation of cell growth
- regulation of mitochondrial membrane potential
- axonogenesis
- humoral immune response
- regulation of calcium ion transport
- establishment of localization in cell
- neuron apoptotic process
- positive regulation of peptidyl-serine phosphorylation
- induction of apoptosis by oxidative stress
- DNA damage response, signal transduction resulting in induction of apoptosis
- response to hydrogen peroxide
- response to DNA damage stimulus
- regulation of mitochondrial membrane permeability
- cellular response to glucose starvation
- smooth muscle cell migration
- glomerulus development
- regulation of cell-matrix adhesion
- release of cytochrome c from mitochondria
- hair follicle morphogenesis
- positive regulation of B cell proliferation
- axon regeneration
- organ growth
- positive regulation of neuron maturation
- positive regulation of cell proliferation
- neuron maturation
- spleen development
- extrinsic apoptotic signaling pathway in absence of ligand
- response to xenobiotic stimulus
- positive regulation of multicellular organism growth
- thymus development
- negative regulation of neuron apoptotic process
- negative regulation of anoikis
- response to glucocorticoid stimulus
- negative regulation of G1/S transition of mitotic cell cycle
- B cell receptor signaling pathway
- negative regulation of reactive oxygen species metabolic process
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- T cell differentiation in thymus
- protein polyubiquitination
- CD8-positive, alpha-beta T cell lineage commitment
- gland morphogenesis
- digestive tract morphogenesis
- response to nicotine
- B cell homeostasis
- B cell apoptotic process
- behavioral fear response
- ovarian follicle development
- reactive oxygen species metabolic process
- metanephros development
- negative regulation of dendritic cell apoptotic process
- branching involved in ureteric bud morphogenesis
- negative regulation of B cell apoptotic process
- negative regulation of calcium ion transport into cytosol
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
- negative regulation of apoptotic signaling pathway
- response to toxin
- lymphoid progenitor cell differentiation
- renal system process
- T cell homeostasis
- motor neuron apoptotic process
- dendritic cell apoptotic process
- ossification
- autophagy
- apoptotic process
- defense response to virus
- cellular response to hypoxia
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of intrinsic apoptotic signaling pathway
- response to gamma radiation
- focal adhesion assembly
- negative regulation of motor neuron apoptotic process
- regulation of protein localization
- cochlear nucleus development
- mesenchymal cell development
- retinal cell programmed cell death
- B cell proliferation
- B cell lineage commitment
- negative regulation of T cell apoptotic process
- negative regulation of autophagy
- negative regulation of retinal cell programmed cell death
- T cell apoptotic process
- regulation of gene expression
- osteoblast proliferation
- regulation of nitrogen utilization
- negative regulation of osteoblast proliferation
- negative regulation of cell migration
- response to UV-B
- response to cytokine stimulus
- melanin metabolic process
- regulation of viral genome replication
- response to ischemia
- skeletal muscle fiber development
- regulation of glycoprotein biosynthetic process
- G1/S transition of mitotic cell cycle
- response to iron ion
- positive regulation of smooth muscle cell migration
- negative regulation of mitochondrial depolarization
- endoplasmic reticulum calcium ion homeostasis
- negative regulation of myeloid cell apoptotic process
- female pregnancy
- regulation of transmembrane transporter activity
- hemopoietic stem cell differentiation
- positive regulation of skeletal muscle fiber development
- stem cell development
- positive regulation of melanocyte differentiation
- melanocyte differentiation
- regulation of protein stability
- oocyte development
- pigment granule organization
- homeostasis of number of cells within a tissue
- ear development
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- negative regulation of ossification
- myeloid cell apoptotic process
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- pore complex
- endoplasmic reticulum
- mitochondrial outer membrane
- endoplasmic reticulum membrane
- nucleus
- nuclear membrane
- cytoplasm
- membrane
- BAD-BCL-2 complex
- mitochondrion
- cytosol
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- channel activity
- sequence-specific DNA binding
- protease binding
- BH domain binding
- BH3 domain binding
- protein binding
- ubiquitin protein ligase binding
- protein heterodimerization activity
- protein phosphatase 2A binding
- channel inhibitor activity
- binding, bridging