EIF2B5 Gene Summary [Human]
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
Details
| Type | Retained Intron |
| Official Symbol | EIF2B5 |
| Official Name | eukaryotic translation initiation factor 2B subunit epsilon [Source:HGNC Symbol;Acc:HGNC:3261] |
| Ensembl ID | ENSG00000145191 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 2B subunit epsilon |
| Synonyms | C81315, CACH, CLE, EIF-2B, EIF2BE, EIF2Bepsilon, EIF2B ε, eukaryotic translation initiation factor 2B, subunit 5 epsilon, eukaryotic translation initiation factor 2B, subunit 5 ε, eukaryotic translation initiation factor 2B subunit epsilon, eukaryotic translation initiation factor 2B subunit ε, LOC192234, LVWM, VWM5 |
| 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 EIF2B5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Bacterial transferase hexapeptide (six repeats)
- I-patch domain
- GSK-3 beta phosphorylation priming site
- LbetaH
- GSK3 beta phosphorylation site
- guanyl-nucleotide exchange factor
- eIF4-gamma/eIF5/eIF2-epsilon
- translation initiation factor
- protein binding
- C-terminal domain of eIF4-gamma/eIF5/eIF2b-epsilon
- glycosyltransferase family A
- translation regulator
Pathways
Biological processes and signaling networks where the EIF2B5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- leukoencephalopathy with vanishing white matter type 5
- hereditary breast and/or ovarian cancer
- leukoencephalopathy with vanishing white matter
- leukoencephalopathy with vanishing white matter type 1
- premature ovarian failure
- adult-onset leukoencephalopathy with vanishing white matter type 5
- astrocytosis
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
role in cell
- growth
- expression in
- activation in
- apoptosis
- development
- differentiation
- myelination
- size
- synthesis in
- translation 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
- Nucleus
- cytosol
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF2B5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of translational initiation
- oligodendrocyte development
- astrocyte development
- astrocyte differentiation
- cytoplasmic translational initiation
- myelination
- hippocampus development
- translational initiation
- response to peptide hormone stimulus
- ovarian follicle development
- response to glucose stimulus
- response to heat
- positive regulation of apoptotic process
- T cell receptor signaling pathway
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- eukaryotic translation initiation factor 2B complex
Molecular Function
What the gene product does at the molecular level
- translation initiation factor activity
- protein binding
- guanyl-nucleotide exchange factor activity
- translation initiation factor binding