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FLASH GENE
Symbol EIF2B4 contributors: mct - updated : 15-05-2015
HGNC name eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
HGNC id 3260
Corresponding disease
VWM4 leukoencephalopathy with vanishing white matter, type 4
Location 2p23.3      Physical location : 27.587.220 - 27.593.324
Synonym name
  • translation initiation factor eIF-2b delta subunit
  • eIF-2B GDP-GTP exchange factor subunit delta
  • Synonym symbol(s) EIF2B, EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2BD
    DNA
    TYPE functioning gene
    STRUCTURE 6.11 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 1660 57.5 522 adrenal gland, lung 2006 16289705
    also called variant 3 or short isoform
    12 splicing 1719 - 543 - 2006 16289705
    also called variant 1 or long isoform
    13 - 1763 - 523 - 2006 16289705
    also called variant 2
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Reproductivemale systemprostate  highly
    Respiratorylung    
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion lymph highly
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Eif2b
    homolog to rattus Eif2b
    Homologene
    FAMILY
  • EIF-2B alpha/beta/delta subunits family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the exchange of eukaryotic initiation factor 2-bound GDP for GTP
  • CELLULAR PROCESS protein, translation/synthesis
    protein, translation regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex of five different subunits, alpha, beta, gamma, delta and epsilon
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • EIF4G2 associates with EIF2B4 and EIF4A1 to stimulate Internal Ribosome Entry Sites (IRES)-dependent translation of cellular mRNAs
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VWM4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS