EIF2B3 Gene Summary [Human]

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Details

Type
Protein Coding
Official Symbol
EIF2B3
Official Name
eukaryotic translation initiation factor 2B subunit gamma [Source:HGNC Symbol;Acc:HGNC:3259]
Ensembl ID
ENSG00000070785
Bio databases IDs NCBI: 8891 Ensembl: ENSG00000070785
Aliases eukaryotic translation initiation factor 2B subunit gamma
Synonyms 1190002P15Rik, EIF-2B, EIF2Bgamma, eukaryotic translation initiation factor 2B, subunit 3, eukaryotic translation initiation factor 2B subunit gamma, eukaryotic translation initiation factor 2B subunit γ, VWM3
Species
Human, Homo sapiens
OrthologiesMouseRat

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 EIF2B3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • MobA-like NTP transferase domain
  • nucleic acid binding translation factor
  • I-patch domain
  • LbetaH
  • guanyl-nucleotide exchange factor
  • translation initiation factor
  • protein binding
  • glycosyltransferase family A
  • translation regulator

Pathways

Biological processes and signaling networks where the EIF2B3 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
  • brain infarction
  • leukoencephalopathy with vanishing white matter type 3
  • leukoencephalopathy with vanishing white matter
  • head and neck squamous cell carcinoma
  • head and neck squamous cell cancer
  • leukoencephalopathy with vanishing white matter type 1
  • adult-onset leukoencephalopathy with vanishing white matter type 3
  • Parkinson disease
regulated by
regulates
role in cell
  • expression in
  • activation in
  • development
  • cell survival
  • 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
  • detergent resistant lipid raft fraction
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human EIF2B3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • oligodendrocyte development
  • response to heat
  • response to glucose stimulus
  • cytoplasmic translational initiation
  • translational initiation
  • response to peptide hormone stimulus
  • T cell receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol
  • guanyl-nucleotide exchange factor complex
  • 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 factor activity, nucleic acid binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.