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FLASH GENE
Symbol EFEMP2 contributors: npt/shn - updated : 25-04-2010
HGNC name EGF-containing fibulin-like extracellular matrix protein 2
HGNC id 3219
Corresponding disease
CLAR1B cutis laxa, type 1B
Location 11q13.2      Physical location : 65.633.912 - 65.640.340
Synonym name
  • fibulin 4
  • mutant p53 binding protein 1
  • fibulin-like extracellular matrix protein
  • protein UPH1
  • Synonym symbol(s) UPH1, FBLN4, FIBL-4, MBP1
    DNA
    TYPE functioning gene
    STRUCTURE 6.43 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S4205 - D11S1883 - EFEMP2 - D11S913 - D11S1889 - qter
    Authors Katsanis (00)
    Text [EFEMP2 ]
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2031 - 443 - Chen (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   lowly
    Endocrinepancreas   moderately
    Nervousbrain   lowly
    Reproductivefemale systemplacenta  moderately
    Respiratorylung   lowly
    Urinarykidney   moderately
    Visualeyeretina  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text brain, kidney, heart and retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six Ca2+ binging EGF-like domains
  • four EGF2 domains
  • a C-terminal fibulin domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Efemp2, Mus musculus
    ortholog to Efemp2, Rattus norvegicus
    ortholog to efemp2, Danio rerio
    ortholog to EFEMP2, Pan troglodytes
    intraspecies homolog to EFEMP1
    Homologene
    FAMILY
  • fibulin family
  • CATEGORY structural protein , signaling
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix
  • secreted
  • basic FUNCTION
  • an elastic-fibre-associated glycoprotein indispensable for elastic-fibre formation and connective tissue evelopment
  • playing an essential role in elastogenesis
  • elastic-fibre-associated glycoprotein that is indispensable for elastic-fibre formation (Chen 2009)
  • structural protein, that may also participate in regulating elastic-fibre formation in human cells through an unanticipated mechanism, namely the regulation of tropoelastin expression (Chen 2009)
  • distinct roles of EFEMP2 and FBLN5 in elastic fiber assembly and how they act in concert to chaperone cross-linked elastin onto microfibrils (Choudhury 2009)
  • dose-dependent requirement for FBLN4 in the development of the elastic fibers in arteries, and have a specific role in recruiting the elastin-cross-linking enzyme, lysyl oxidase (LOX) (Horiguchi 2009)
  • acts as an indispensible adaptor between proLOX and elastin to facilitate proper maturation of elastic fibers (Horiguchi 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of extracellular matrix
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • p53 (Gallagher et al, 1999)
  • strong binding between EFEMP2 and lysyl oxidase enhanced the interaction of EFEMP2 with tropoelastin, forming ternary complexes that may direct elastin cross-linking (Choudhury 2009)
  • specific interaction between EFEMP2 and LOX, which efficiently promotes assembly of LOX onto tropoelastin( suggest a mechanism of elastogenesis, in which a sufficient amount of EFEMP2 is essential for tethering LOX to tropoelastin to facilitate cross-linking) (Horiguchi 2009)
  • participate in regulating elastic-fibre formation in human cells through an unanticipated mechanism, namely the regulation of tropoelastin expression (Chen et al, 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLAR1B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulated expression of associated with colon carcinoma
    Susceptibility recognized as an autoantigen mainly in osteoarthritis
    Variant & Polymorphism
    Candidate gene retinal dystrophy
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Fbln4-deficient mice have tortuous aortae and emphysematous lungs, with severe disruption in elastic tissues (Horiguchi 2009)
  • knocked down of fibulin-4 in human foreskin fibroblasts using siRNA leads to impairment of elastic-fibre formation (Chen et al, 2009)
  • Knocking down or knocking out fibulin-4 in mice lead to a decrease in tropoelastin expression in the aorta (Chen et al, 2009)