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FLASH GENE
Symbol GPC6 contributors: mct/np - updated : 25-05-2013
HGNC name glypican 6
HGNC id 4454
Corresponding disease
OMD omodysplasia
Location 13q31.3      Physical location : 93.879.077 - 95.060.267
Synonym name glypican proteoglycan 6
Synonym symbol(s) MGC126288, OMIMD1
DNA
TYPE functioning gene
STRUCTURE 1181.20 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
regionally located juxtaposed to GPC5
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 7114 60.4 555 - Campos-Xavier (2009)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum   Homo sapiensFetal
 brain     Homo sapiensFetal
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousastrocyte Homo sapiensAdult
Nervousastrocyte Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text kidney, highly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • anchored to the membrane via a glycosyl phosphatidylinositol anchor, with 13 cysteines at conserved position
  • HOMOLOGY
    intraspecies homolog to GPC4
    Homologene
    FAMILY
  • GPI- linked-glypican family
  • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • involved in cellular growth control and differentiation
  • cell surface proteoglycan that bears heparan sulfate
  • putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases
  • playing a role in enchondral ossification and long-bone elongation (Campos-Xavier 2009)
  • astrocyte-secreted signals sufficient to induce functional synapses between purified retinal ganglion cell neurons
  • GPC4 and GPC6 are astrocyte-derived molecules necessary and sufficient to promote glutamate receptor clustering and receptivity and to induce the formation of postsynaptically functioning CNS synapses
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is a novel NFATC1, NFATC2, NFATC3, NFATC4 target gene in breast cancer cells that promotes invasive migration through WNT5A signalling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OMD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in GPC6 mRNA in retinoblastoma is associated with the non-random allelic loss at 13q31 that could contribute to RB development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS