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FLASH GENE
Symbol BGN contributors: npt/mct/pgu - updated : 04-07-2016
HGNC name biglycan
HGNC id 1044
Corresponding disease
SEMD6 X-Linked Spondyloepimetaphyseal Dysplasia 6
Location Xq28      Physical location : 152.760.346 - 152.775.004
Synonym name
  • small interstitial proteoglycan
  • bone/cartilage proteoglycan I
  • dermatan sulphate proteoglycan I
  • small leucine-rich protein 1A
    • Synonym symbol(s) DSPG1, B6F3, SLRR1A, PG-S1, PGI
    DNA
    TYPE functioning gene
    STRUCTURE 14.59 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure
  • SP-1, AP-1, AP-2
  • structure : no TATA, no CAAT
  • housekeeping
    • MAPPING cloned Y linked   status confirmed
    Map cen - DXS304 - DXS305 ,DXS374 - GABRA3 - DXS52 - DXS15 - BGN - L1CAM - AVPR2 - ARD1A - DXS80 - RGCP@ - qter
    Text see F8 ,GABRA3
    RNA
    TRANSCRIPTS type messenger
    text multiple isoforms in lung fibroblasts differing in polysaccharide substitution
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2401 - 368 - 2002 12153565
    variant 1
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver    
    Respiratorylung    
    Skeletonaxial skeleton   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    not specificchondroblast Homo sapiens
    Skeletonosteoblast Homo sapiens
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal O-linked glycosylation site
  • ten leucine-rich repeats flanked by cysteine-rich regions
  • a N-linked glycosylation site (NKSIT motifs) in the LRR region
    • HOMOLOGY
    Homologene
    FAMILY
  • small leucine-rich proteoglycan (SLRP) family
  • class I subfamily
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    text extracellular matrix
    basic FUNCTION
  • may be function))ing in connective tissue metabolism by binding to collagen fibrils and transfering growth factor-beta
  • be may promoting neuronal survival
  • with decorin have a coordinate and cooperative relationship in the regulation of stromal fibrillogenesis
  • plays an important role in the highly orchestrated process of dentin mineralization
  • WISP1 and BGN may functionally interact and control each other activity, thus regulating the differentiation and proliferation of osteogenic cells
  • required for stable collagen matrix formation of infarct scars and for preservation of cardiac hemodynamic function
  • promotes osteoblast differentiation and this function is due in part to its ability to positively modulate bone morphogenetic protein (BMP) functions
  • could facilitate osteoblast functions
  • BGN core protein is responsible for its function in promoting the BMP2 functions and the glycosaminoglycan component could function as a suppressor in this process
  • promote bone morphogenetic protein-4 (BMP4) stimulated osteoblastic differentiation
  • BGN and DCN may have sequential roles in the tendon response to injury
  • BGN signaling supported fetal membrane remodeling during early gestation in the absence of concomitant changes in TGFB1 levels
  • BGN has likely a regulatory role in the process of bone formation during fracture healing, and further, that reduced angiogenesis could be the molecular basis
  • is a factor secreted by peritubular cells to modulate FGFR3c signaling and thus contributes to the regulation of spermatogonial maintenance
  • BGN and DCN are class I members of the small leucine-rich proteoglycan (SLRP) family that regulate collagen fibril size
  • BGN is a CADASIL-enriched protein that potentially accumulates in vessels by MTOR-mediated transcriptional activation and/or post-translational accumulation via protein interactions with NOTCH3 and collagen
  • extracellular matrix proteoglycan that can bind transforming growth factor beta (TGFB1)
  • is an important structural component of articular cartilage and participates in the assembly of the chondrocyte extracellular matrix through the formation of protein interactions with type VI collagen and large proteoglycan aggregates
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    protein
  • binding collagen fibrils and transferring TGFB1
  • interaction with DCN during corneal development and decorin may have a primary role in regulating fibril assembly, a function that can be fine-tuned by biglycan during early development
  • FGFR3 facilitates BMPR1a to degradation through Smurf1-mediated ubiquitination pathway
  • BGN binds to FGFR3c and FGF1
    • cell & other
    REGULATION
    Other regulated by matriuretic peptide precursor C for the mineralization of loss
    ASSOCIATED DISORDERS
    corresponding disease(s) SEMD6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    increases aortic aneurysm development and is not protective against the development of atherosclerosis, leading to loosely packed aortic collagen fibers
    Susceptibility to carpal tunnel syndrome (CTS)
    Variant & Polymorphism other
  • variants within the BGN gene, independently and by interacting with COL5A1 variants, are associated with CTS
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    reproductionpregnancy 
    novel target for research on preventive strategies for preterm premature rupture of fetal membranes
    ANIMAL & CELL MODELS
  • targeted disruption of Bgn in mice,lead to an osteoporotic like phenotype
  • biglycan-deficient mice exhibited significantly increased vascular perlecan content compared to biglycan wildtype mice