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FLASH GENE
Symbol GPC5 contributors: mct/npt/pgu - updated : 02-01-2012
HGNC name glypican 5
HGNC id 4453
Location 13q31.3      Physical location : 92.050.934 - 93.519.485
Synonym name glypican proteoglycan 5
Synonym symbol(s) bA93M14.1
DNA
TYPE functioning gene
STRUCTURE 1468.60 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map cen - D13S160 - D13S170 - D13S157 - D13S282 - D13S265 - D13S261 - D13S167 - GPC5 ,GPC6 - D13S154 - D13S159 - qter
Authors GeneMap (98)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2904 63.6 572 - 1997 9070915
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Nervousbrain   highly Homo sapiens
Reproductivemale systemtestis  highly
Respiratoryrespiratory tractlarynx  highly
Urinarykidneynephronrenal capsuleglomerulushighly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarypodocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text brain, lung, liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a glycosyl phosphatidylinositol anchor
  • 13 cysteines at conserved position
  • HOMOLOGY
    interspecies homolog to rattus glypican Oci-5,highly
    Homologene
    FAMILY
  • glypican family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • heparan sulfate proteoglycan, anchored to the membrane
  • unlike GPC3, GPC5 localizes to the primary cilia
  • basic FUNCTION
  • involved in the control of cellular response to growth factors and adhesion factors
  • may contribute to development and/or progression of lymphomas and other tumors
  • may play a role in the context of sarcomagenesis, in enhancing FGF signaling that leads to mesodermal cell proliferation without induction of myogenic differentiation
  • stimulates the proliferation of rhabdomyosarcoma cells, and its stimulatory activity is a result of its ability to promote Hedgehog (Hh) signaling
  • stimulates Hh signaling by facilitating/stabilizing the interaction between Hh and PTCH1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • role for the GPC5-FGF2 pathway in nephrotic syndrome pathogenesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • increases the binding of Sonic Hh to PTCH1 (binds to both Hh and PTCH1 through its glycosaminoglycan chains)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lymphoma, and rhabdo myosarcoma
    Susceptibility
  • to multiple sclerosis (MS)
  • to sudden cardiac arrest (SCA)
  • to nephrotic syndrome
  • Variant & Polymorphism other
  • increasing the risk of multiple sclerosis
  • intronic SNP in the GPC5 gene (rs9523787) showed association with MS
  • minor allele of GPC5 (rs3864180) was associated with a lower risk of SCA
  • Candidate gene for upper limb anomalies in del 13q
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancermuscle 
    attractive target for therapeutic intervention in rhabdomyosarcomas and other tumors that amplify and/or overexpress the gene
    miscelleaneousurinary 
    promising therapeutic target for reducing podocyte vulnerability in glomerular disease
    ANIMAL & CELL MODELS