BCL2L2 Gene Summary [Human]
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | BCL2L2 |
| Official Name | BCL2 like 2 [Source:HGNC Symbol;Acc:HGNC:995] |
| Ensembl ID | ENSG00000129473 |
| Bio databases IDs | |
| Aliases | BCL2 like 2, protein phosphatase 1, regulatory subunit 51 |
| Synonyms | BCL2-like 2, BCL-W, BCL-WEL, BCL-WS, c98, Gtrgal2, Gtrosa41, PPP1R51 |
| 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 BCL2L2 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
- apoptosis regulator
- Bcl-2 homology region 4
- binding protein
- Bcl-2 homology 1 domain
- Bcl-2 homology 2 domain
- Bcl-2 homology 3 domain
- PP1 binding domain
- protein domain specific binding
- protein binding
- loop domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- primary myelofibrosis
- hypoplasia
- breast cancer
- bladder cancer
- post polycythemia vera myelofibrosis
- post essential thrombocythemia myelofibrosis
- leukemogenesis
- myelofibrosis
- nevus
role in cell
- quantity
- proliferation
- cell death
- apoptosis
- permeabilization
- transmembrane potential
- survival
- degeneration
- stabilization
- degeneration in
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
- Mitochondria
- cytosol
- mitochondrial membrane
- perikaryon
- axons
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCL2L2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Sertoli cell proliferation
- negative regulation of mitochondrial membrane permeability
- negative regulation of release of cytochrome c from mitochondria
- spermatogenesis
- regulation of apoptotic process
- DNA damage response, signal transduction resulting in induction of apoptosis
- extrinsic apoptotic signaling pathway in absence of ligand
- cellular response to estradiol stimulus
- response to ischemia
- negative regulation of apoptotic process
- release of cytochrome c from mitochondria
- activation of cysteine-type endopeptidase activity involved in apoptotic process
Cellular Component
Where in the cell the gene product is active
- Bcl-2 family protein complex
- cytosol
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- BH domain binding
- identical protein binding
- protein binding