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FLASH GENE
Symbol EFNB3 contributors: npt/shn - updated : 12-01-2012
HGNC name ephrin-B3
HGNC id 3228
Location 17p13.1      Physical location : 7.608.519 - 7.614.691
Synonym name
  • eph-related receptor tyrosine kinase ligand 8
  • EPH-related receptor transmembrane ligand ELK-L3
  • Ephrin B3
    • Synonym symbol(s) EPLG8, EFL6, LERK8, LERK-8
    DNA
    TYPE functioning gene
    STRUCTURE 6.17 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D17S960 - D17S960 - EFNB3 - D17S1353 - D17S1796 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3236 33.3 340 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Homo sapiens
    Nervousbraindiencephalonthalamus lowly Homo sapiens
     brainmidbrainsubstantia nigra moderately Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     brainbasal nucleicorpus callosum lowly Homo sapiens
     braindiencephalonamygdala highly Homo sapiens
     brainbasal nucleicaudate nucleus highly Homo sapiens
     brainbasal nucleiputamen highly Homo sapiens
     brainforebraincerebral lobetemporal lobehighly Homo sapiens
     brainforebraincerebral lobefrontal lobehighly Homo sapiens
     brainforebraincerebral lobeoccipital lobehighly Homo sapiens
     brainhindbrainmedulla oblongata lowly Homo sapiens
     brainforebraincerebral cortex highly Homo sapiens
     brainhindbraincerebellum moderately Homo sapiens
     brain   highly Homo sapiens
     braindiencephalonthalamusnucleimoderately Homo sapiens
     spinal cord   lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text heart, brain, lung and kidney (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C terminal region with five conserved tyrosine residues
    • HOMOLOGY
    interspecies ortholog to Efnb3, Mus musculus
    ortholog to Efnb3, Rattus norvegicus
    ortholog to EFNB3, Pan troglodytes
    ortholog to efnb3b, Danio rerio
    Homologene
    FAMILY
  • ephrin family
    • CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • important in brain development as well as in its maintenance and may play a pivotal role in forebrain function (
  • ligand for eph related kinase, playing a role in local neuronal circuits that control walking
  • involved in short-range contact-mediated axonal guidance
  • essential components of the Reelin receptor/signalling pathway to control neuronal migration during the development of the nervous system (
  • contributes to myelin-derived axonal growth inhibition and limits recovery from adult CNS trauma
  • contributes to myelin-dependent failure of axonal regeneration
  • is a physiologically important myelin-associated inhibitor of axonal growth in the adult central nervous system
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EPH receptor B3, EPHB3 (
  • EPH receptor A4, EPHA4 (
  • EPH receptor A4, EPHB4 (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in stage neuroblastoma and NTRK1 high expression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Efnb3(-/-) knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (
  • triple ephrin B1, B2, B3 knockouts knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (