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FLASH GENE
Symbol LUM contributors: mct - updated : 19-08-2011
HGNC name lumican
HGNC id 6724
Location 12q21.33      Physical location : 91.497.232 - 91.505.542
Synonym name
  • KSPG lumican
  • keratan sulfate proteoglycan lumican
    • Synonym symbol(s) LDC, SLRR2D
    DNA
    TYPE functioning gene
    STRUCTURE 8.31 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2116 - 338 - 1995 7665616
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skeletonappendicular skeletonjoint    Homo sapiens
    Skin/Tegumentskin    
    Visualeyeanterior segmentcornea highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivedensetendon   Homo sapiens
    Epithelialbarrier/liningcorneal stroma  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ten leucine-rich repeats (LRR) flanked by cysteine-rich regions
  • a N linked glycosylation site (NKSIT motifs) in the LRR region
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY small-leucine-rich proteoglycans family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix (ECM)
    basic FUNCTION
  • playing a role in the regulation of collagen assembly into fibrils in various connective tissues
  • having a novel regulatory role in keratocan expression at the transcriptional level
  • regulating keratocan
  • stimulates cell migration in the corneal epithelium by activating ERK 1/2, and point to a novel signaling pathway implicated in corneal epithelial cell migration
  • plays pivotal roles in skin collagen fibrillogenesis and wound healing
  • may play a key role in the generation of a new collagen network by fibroblast-like cells
  • endogenous inhibitor of TGFB2 activity, resulting in downstream effector modulation including SMAD2, integrin beta1 and PTK2 to regulate osteosarcoma adhesion
  • reduces tumor growth via induction of fas-mediated endothelial cell apoptosis
  • efficient inhibitor of cell adhesion and migration
  • affects angiogenesis both by interfering with alpha2beta1 receptor activity and downregulating proteolytic activity associated with surface membranes of endothelial cells
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • keratan sulfate proteoglycan one of the three major constituents of the corneal stroma
  • major extracellular component of the fibrous mammalian sclera
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by HMGA2 (transcriptionally repressed by HMGA2 and frequently lost in human high-grade serous papillary carcinoma)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast, pancreas, carcinomas, cervical carcinoma cell lines
    Susceptibility to high myopia
    Variant & Polymorphism other polymorphisms contribute to the development of high myopia
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS