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Symbol FBLN5 contributors: mct/shn - updated : 31-03-2015
HGNC name fibulin 5
HGNC id 3602
Corresponding disease
ADCL2 cutis laxa, autosomal dominant 2
ARMD3 macular degeneration, age-related 3
CLAR1A cutis laxa, type 1A
PNES peripheral neuropathy, age-related macular degeneration and hyperelastic skin.
Location 14q32.12      Physical location : 92.335.755 - 92.414.046
Synonym name
  • developmental arterie and neural crest epidermal growth factor-like
  • urine p50 protein
  • embryonic vascular EGF-like repeat-containing protein
  • developmental arteries and neural crest epidermal growth factor-like
  • urine p50 protein
  • Synonym symbol(s) EVEC, DANCE, UP50, FBL5, ARMD3, UNQ184/PRO210, FIBL-5, FLJ90059
    TYPE functioning gene
    STRUCTURE 78.29 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D14S280 - D14S617 - FBLN5 - D14S1015 - D14S1016 - qter
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2637 52 448 - 1999 10428823
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly Homo sapiens
    Digestiveintestinelarge intestinecolon highly
     intestinesmall intestine  moderately
    Endocrinepancreas   moderately
    Lymphoid/Immunespleen   lowly
    Nervousbrain   lowly
    Reproductivefemale systemovary  highly
     female systemplacenta  lowly
     male systemprostate  lowly
     male systemtestis  moderately
    Respiratorylung   lowly
    Urinarykidney   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, great vessels and cardiac valves, in developing vasculature
  • a modified N-terminal alcium-binding epidermal growth factor domain (cbEGF)
  • five cbEGF domains
  • six calcium-binding epidermal growth factor domains
  • an Arg-Gly-Asp (RGD) motif
  • repeated epidermal-growth-factor-like domains
  • a fibulin-type C-terminal module
  • two potential N-glycosylation site
  • conjugated GlycoP
    interspecies ortholog to Fbln5, Mus musculus
    ortholog to Fbln5, Rattus norvegicus
    ortholog to fbln5, Danio rerio
    ortholog to FBLN5, Pan troglodytes
  • fibulin family
  • CATEGORY adhesion , secretory
  • extracellular matrix
  • observed throughout the vessel wall
  • FBLN5 specifically colocalized with LTBP4 on microfibrils
  • basic FUNCTION
  • vascular ligand for integrin receptors playing in vascular development and remodeling, in regulating angiogenesis and endothelial cell function, antagonizing VEGF signaling in endothelial cells, as well as enhanced their expression of the antiangiogenic factor, thrombospondin-1
  • promoting adhesion of endothelial cells through interaction of integrins and the RGD motif
  • essential for elastic fibre development
  • calcium-dependent elastin-binding protein that scaffolding cells to elastic fibers, there by preventing elastinopathy in the skin, lung, and vasculature
  • integrin-binding extracellular matrix protein that mediates endothelial cell adhesion and scaffolds cells to elastic fibers
  • function as angiogenesis inhibitors and suppress tumor growth
  • acting as a bridging peptide between elastin fibers and cell surface integrins in blood vessel wall
  • extracellular matrix glycoprotein that participates in elastogenesis
  • may promote extracellular deposit formation in macular degeneration
  • potently induces elastic fiber assembly and maturation by organizing tropoelastin and cross-linking enzymes onto microfibrils
  • enhances elastic fiber formation in part by improving the self-association properties of tropoelastin (ELN)
  • distinct roles of EFEMP2 and FBLN5 in elastic fiber assembly and how they act in concert to chaperone cross-linked elastin onto microfibrils
  • FBLN2 and FBLN5 cooperatively function to form the internal elastic lamina during postnatal development by directing the assembly of elastic fibers, and are responsible for maintenance of the adult vessel wall after injury
  • dual role of FBLN5 in human placental development
  • integrin-binding matricellular protein that is essential for elastic fiber assembly, regulated the activity of MMP9 to maintain integrity of the vaginal wall and prevented development of Pelvic organ prolapse (POP)
    PHYSIOLOGICAL PROCESS development , angiogenesis
    text elastogenesis
    a component
    small molecule
  • Ca2+
  • protein
  • apolipoprotein(a), LPA
  • lysyl oxidase-like 1, LOXL1
  • extracellular superoxide dismutase, ecSOD
  • binding of ELN fragments to FBLN5 was directly proportional to their propensity to coacervate
  • may interfere with choroidal neovascularization by downregulating VEGFA, CXCR4, and TGFB1 expression
  • in response to tension stress, LTBP2 may negatively control the function of FBLN5, thereby modulating the mechanism of oxytalan fiber coalescence
  • LTBP4 potentiates formation of elastic fibers through interacting with FBLN5, a tropoelastin-binding protein necessary for elastogenesis
  • LTBP4 is necessary for linear deposition of FBLN5 to microfibrils
  • may have a negative regulatory role during elastic fiber assembly, perhaps in displacing elastin microassemblies from complexes with FBLN5 and/or cell surface heparan sulfate proteoglycans
  • cell & other
    corresponding disease(s) CLAR1A , ARMD3 , PNES , ADCL2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in disease affecting adult arterial vasculature
    tumoral     --low  
    in cancers of the kidney, breast, ovary, and colon, metastatic
    constitutional     --low  
    in patients with primary spontaneous pneumothorax (PSP who are younger than 25 years
    Susceptibility to age-related macular degeneration and cause autosomal-recessive cutis laxa
    Variant & Polymorphism other missense variations increasing the risk of age-related macular degeneration
    Candidate gene
    Therapy target
  • could be a novel therapeutic target for elastic fiber regeneration
  • FBLN5 and ELN are potential targets for the regeneration of elastic fibers
  • fibulin 5 -/- mice develop marked elastinopathy owing to the disorganization of elastic fibres, with resulting loose skin, vascular abnormalities and emphysematous lung
  • fibulin 5-/- mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphysema, and loose skin
  • Fbln5-/- mice represent a suitable model for further studies to determine mechanistic relationships between arterial compliance and left ventricular (LV) diastolic function