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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 ]
    Physical map
    SCYL1 11q11-q12 SCY1-like 1 (S. cerevisiae) LTBP3 11q12 latent transforming growth factor beta binding protein 3 MTVR1 11q23 Mouse Mammary Turmor Virus Receptor homolog 1 SSSCA1 11q13.1 Sjogren's syndrome/scleroderma autoantigen 1 DKFZp762C186 11q13.1 tangerin KCNK7 11q13 potassium channel, subfamily K, member 7 MAP3K11 11q13.3 mitogen-activated protein kinase kinase kinase 11 RELA 11q13 v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) SIPA1 11q13.3 signal-induced proliferation-associated gene 1 LOC387782 11 LOC387782 HTATIP 11q13 HIV-1 Tat interactive protein, 60kDa AYP1 11q13.1 AYP1 protein LOC390211 11 similar to Keratin, type II cytoskeletal 8 (Cytokeratin 8) (K8) (CK 8) LOC91056 11q13.1 hypothetical protein BC004895 OVOL1 11q13 ovo-like 1(Drosophila) FLJ30934 11q13.1 hypothetical protein FLJ30934 CFL1 11q13 cofilin 1 (non-muscle) MUS81 11q13 MUS81 endonuclease homolog (yeast) EFEMP2 11q13 EGF-containing fibulin-like extracellular matrix protein 2 CTSW 11q13.1 cathepsin W (lymphopain) FIBP 11q13.1 fibroblast growth factor (acidic) intracellular binding protein DIPA 11q12.1 hepatitis delta antigen-interacting protein A FOSL1 11q13 FOS-like antigen 1 P5326 11q13.1 hypothetical protein p5326 DRAP1 11q13.3 DR1-associated protein 1 (negative cofactor 2 alpha) FLJ32880 11q13.1 hypothetical protein FLJ32880 SART1 11q12-q13 squamous cell carcinoma antigen recognised by T cells MGC11102 11q13.1 hypothetical protein MGC11102 BANF1 11q13.1 barrier to autointegration factor 1 CST6 11q13.2 cystatin E/M CATSPER1 11q12.1 cation channel, sperm associated 1 GAL3ST2 11q13 cation channel, sperm associated 1 SF3B2 11cen-q23 splicing factor 3b, subunit 2, 145kDa PACS1 11q13.1 phosphofurin acidic cluster sorting protein 1
    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)