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FLASH GENE
Symbol FBLN2 contributors: mct - updated : 05-12-2012
HGNC name fibulin 2
HGNC id 3601
DNA
TYPE functioning gene
STRUCTURE 89.30 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
text structure 18 exons coding
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 4334 129.2 1231 - 2012 21743496
17 - 4193 124 1184 expressed abundantly in normal tissues, but is dramatically downregulated in nasopharyngeal carcinoma 2012 21743496
  • FBLN2S
  • 18 - 4591 129.2 1231 either not detectable or is expressed only at low levels in both normal and tumor tissues 2012 21743496
  • FBLN2L
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text
  • placenta, embryonic endocardial cushion tissue, predominantly in the valves and aortic arch cartilage
  • upregulated during cardiac development and skin wound healing
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine extracellular, Ca2+ binding EGF-like repeats
  • a signal sequence of 27 AA
  • three consecutive anaphylatoxin-related segment (domain I) in its central region
  • ten EGF-like repreats domain II (nine of which had a consensus sequence for calcium binding)
  • conjugated GlycoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to murine Fbln2
    homolog to Drosophila CG10323
    homolog to C.elegans F56H11.1a
    Homologene
    FAMILY
  • fibulin family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • colocalizing with FBN1 in these tissues with different variants
  • extracellular matrix
  • component of both basement membranes and other connective tissues
  • extracellular matrix protein
  • distinctly located in the subendothelial matrix
  • basic FUNCTION
  • regulating interactions between adhesion receptors and the cytoskeleton
  • contributes to wound healing and inhibits smooth muscle cell migration
  • play essential roles in elastic fiber formation during development
  • 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
  • has an important tumor-suppressive and anti-angiogenic role in nasopharyngeal carcinoma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA
    a component
  • homotrimer disulfide-linked
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • binding to FBN1 and fibronectis and some other ligand
  • interacts with two major constituents of elastic fibers, tropoelastin and fibrillin-1, and localizes to elastic fibers in many tissues
  • downregulates VEFGA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in several breast cancer cell lines
    constitutional        
    results in decreased up-regulation of TGFB signaling after MI (myocardial infarction) and protects against ventricular dysfunction
    Susceptibility to atrioventricular septal defects
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularatheromacardiac
    may be a potential therapeutic target for attenuating the progression of ventricular remodeling in myocardial infarction
    ANIMAL & CELL MODELS
  • fibulin-2 null mice had significantly better survival rate after MI compared to the wild-type mice as a result of less frequent cardiac rupture and preserved left ventricular function