EIF2B4 Gene Summary [Human]
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EIF2B4 |
| Official Name | eukaryotic translation initiation factor 2B subunit delta [Source:HGNC Symbol;Acc:HGNC:3260] |
| Ensembl ID | ENSG00000115211 |
| Bio databases IDs | |
| Aliases | eukaryotic translation initiation factor 2B subunit delta |
| Synonyms | EIF-2B, EIF2Bdelta, eIF2B δ, ELF2B delta, ELF2B δ, eukaryotic translation initiation factor 2B, subunit 4 delta, eukaryotic translation initiation factor 2B, subunit 4 δ, eukaryotic translation initiation factor 2B subunit delta, eukaryotic translation initiation factor 2B subunit δ, VWM4 |
| 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 EIF2B4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ribose 1,5-bisphosphate isomerase
- guanyl-nucleotide exchange factor
- Initiation factor 2 subunit family
- translation initiation factor
- protein binding
- translation regulator
Pathways
Biological processes and signaling networks where the EIF2B4 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
- androgenic alopecia
- leukoencephalopathy with vanishing white matter
- metastasis
- leukoencephalopathy with vanishing white matter type 4
- leukoencephalopathy with vanishing white matter type 1
- chronic fatigue syndrome
- childhood ataxia with CNS hypomyelination/vanishing white matter leukoencephalopathy
- premature ovarian failure
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
role in cell
- cell death
- invasion by
- development
- myelination
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
- ribosomal fraction
- Nucleus
- cytosol
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EIF2B4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- oligodendrocyte development
- response to heat
- response to glucose stimulus
- cytoplasmic translational initiation
- myelination
- translational initiation
- response to peptide hormone stimulus
- T cell receptor signaling pathway
- ovarian follicle development
Cellular Component
Where in the cell the gene product is active
- 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