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FLASH GENE
Symbol GDF5 contributors: mct - updated : 28-03-2014
HGNC name growth differentiation factor 5
HGNC id 4220
Corresponding disease
AMDG acromesomelic dysplasia, Grebe-Quelce Salgado
AMDH acromesomelic chondrodysplasia, Hunter-Thompson type (homozygous GDF5 defect)
ASPED angel-shaped phalango-epiphyseal dysplasia (ASPED)
BDA3 brachydactyly type A2 , locus 3
BDC2 brachydactyly, type C
DPNS Du Pan syndrome
SYM2 symphalangism, proximal 2
SYNS2 multiple synostosis syndrome 2
Location 20q11.22      Physical location : 34.021.148 - 34.026.027
Synonym name
  • associated protein 4
  • lipopolysaccharide
  • cartilage-derived morphogenetic protein 1
  • radotermin
  • Synonym symbol(s) CDMP1, LAP4, BMP14
    DNA
    TYPE functioning gene
    STRUCTURE 4.88 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • promoter and 5&
  • 8242;UTR of GDF5 are methylated in cell lines and joint tissues
  • is regulated by DNA methylation
  • MAPPING cloned Y linked N status confirmed
    Physical map
    ACAS2 20q11.2-q12 acetyl-Coenzyme A synthetase 2 (ADP forming) GSS 20q11.21 glutathione synthetase MYH7B 20q11.21 myosin, heavy polypeptide 7B, cardiac muscle, beta TRPC4AP 20q11.23 transient receptor potential cation channel, subfamily C, member 4 associated protein C20orf31 20q11.23 chromosome 20 open reading frame 31 PROCR 20q11.21 protein C receptor, endothelial (EPCR) MMP24 20q11.2 matrix metalloproteinase 24 (membrane-inserted) ITGB4BP 20q11.2 integrin beta 4 binding protein C20orf128 20q11.21 chromosome 20 open reading frame 128 C20orf44 20q11.23 chromosome 20 open reading frame 44 GDF5 20q11.2 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1) CEP2 20pter-q12 centrosomal protein 2 LOC343705 20q11.23 similar to beta-galactoside alpha-2,3-sialyltransferase C20orf173 20q11.22 chromosome 20 open reading frame 173 SDBCAG84 20pter-q12 serologically defined breast cancer antigen 84 FER1L4 20q11.21 fer-1-like 4 (C. elegans) RPL37P1 11q13 ribosomal protein L37 pseudogene 1 LOC375095 20q11.23 similar to dJ309K20.1.1 (novel protein similar to dysferlin, isoform 1) SPAG4 20q11.2 sperm associated antigen 4 CPNE1 20q11.21 copine I RBM12 20q11.21 RNA binding motif protein 12 NFS1 20q11-q12 NFS1 nitrogen fixation 1 (S. cerevisiae) C20orf52 20q11.23 chromosome 20 open reading frame 52 RNPC2 20q11.21 RNA-binding region (RNP1, RRM) containing 2 C20orf53 20 chromosome 20 open reading frame 53 C20orf104 20q11.22-q11.23 chromosome 20 open reading frame 104
    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