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FLASH GENE
Symbol GDF5 contributors: mct - updated : 28-03-2014
HGNC name growth differentiation factor 5
HGNC id 4220
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2383 - 501 - 1996 8661040
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   moderately
Digestivesalivary gland    
Endocrineneuroendocrinepituitary  moderately
Reproductivefemale systemovary   
Respiratorylung   moderately
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectivecartilage   
cells
SystemCellPubmedSpeciesStageRna symbol
 chondrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text throughout the cartilage core during long bone development (predominantly)
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • TGF beta-like domain
  • C terminal cysteine knot-like domain
  • seven cysteine residues
  • mono polymer homomer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-XArg to yield a C terminus mature dimer
    HOMOLOGY
    interspecies homolog to murine Gdf5
    Homologene
    FAMILY
  • bone morphogenetic protein (BMP) family
  • TGF-beta superfamily
  • CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • potentially regulator of serum osteocalcin concentration and role in skeletal development (in regulation of axial bone growth during development)
  • may be playing an essential role for maintenance and growth of the developing phalanges
  • involved in bone growth and differentiation in both adult and embryonic tissues
  • may enhance the cellular response to tendon injury, thus improving the structural outcome of the regenerative tissue
  • regulates cardiac repair after myocardial infarction
  • involved in synovial joint development, maintenance and repair
  • is a key physiological regulator of dendrite growth during development
  • reduces MMP13 expression in human chondrocytes via DKK1 mediated canonical Wnt signaling inhibition
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • inducing nuclear translocation of TRPS1
  • is a potential target gene of HOXA13 target gene, which confirm a specific role for HOXA13 during appendicular skeletal development
  • SOX11 is a potential regulator of GDF5 expression in joint maintenance, suggesting a possible role in the pathogenesis of osteoarthritis
  • inhibition of MMP13 expression through GDF5 stimulation is mediated by DKK1
  • cell & other
  • activated (cleaved) by subtilisin-like convertases
  • REGULATION
    repressed by the over-expression of TRPS1
    ASSOCIATED DISORDERS
    corresponding disease(s) AMDG , AMDH , BDC2 , BDA3 , SYNS2 , SYM2 , DPNS , ASPED
    Susceptibility
  • to osteoarthritis
  • to decreased height
  • Variant & Polymorphism SNP
  • SNP in the 5' UTR of GDF5 (+104T/C) showed significant association with hip osteoarthritis and to decreased height
  • rs143383 single nucleotide polymorphism (SNP) located in the 5&
  • 8242;UTR, associated with osteoarthritis, and its functional effect is modulated epigenetically by DNA methylation
  • genetic deficit mediated by SNP rs143383 that leads to reduced expression of GDF5 is strongly associated with large-joint osteoarthritis 1)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticular  
    use of combined GDF5 and adipose-derived mesenchymal stem cells tissue-engineered therapies may have a role in the future of tendon repair
    ANIMAL & CELL MODELS
  • increasing the number of chondroprogenitor cells and accelerating chondrocyte differentiation to hypertrophy in targeted expression of recombinant CDMP1
  • its absence leads to brachypodism in mice