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FLASH GENE
Symbol GDF6 contributors: mct - updated : 18-04-2023
HGNC name growth differentiation factor 6
HGNC id 4221
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
interspecies ortholog to murine Gdf6 (86 pc)
Homologene
FAMILY
  • (BMP) family of secreted signaling molecules
  • TGF-beta family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • required for the formation of limb, ear, and skull joints
  • controlling developmental patterning of skeletal joints and associated with numerous, distant cis-acting
  • regulatory elements
  • may be involved in bone formation
  • plays a role in formation of a diverse subset of skeletal joints
  • plays an inhibitory role to prevent the osteogenic differentiation of the coronal suture mesenchyme
  • role for GDF6 in adipocytic commitment and differentiation
  • may play an important role in suppression of ossification to ensure proper vertebral segmentation during spinal development
  • GDF6 plays a necessary role in early cochlear development controlled by cis-regulatory elements
  • GDF6 promotes a healthy disc tissue phenotype in degenerate Nucleus Pulposus (NP)cells through SMAD-dependent and -independent (ERK1/2) mechanisms
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimer, disulfide-linked
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ROR2 signaling is required for local upregulation of GFD6 and activation of BMP signaling at the neural plate border
  • GDF6 repressed the melanocyte differentiation gene MITF and the proapoptotic factor SOX9, thereby preventing differentiation, inhibiting cell death, and promoting tumor growth
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KFS1 , LCA17 , MCOP4 , SYNS4 , DFNB118
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    genomic deletion 8q21.2q22.1 in a patient with chorioretinal coloboma point to a key role of GDF6 in ocular development
    tumoral     --over  
    in melanomas correlated with poor survival
    constitutional     --over  
    in hepatic fibrosis wich is a profibrogenic factor
    Susceptibility to Leri pleonosteosis, a congenital rheumatic disease
    Variant & Polymorphism other
  • microduplication at 8q22.1 encompassing GDF6 and SDC2 increasing the risk of Leri pleonosteosis
  • Candidate gene
  • for ocular developmental anomalies
  • potential as a new fibrosis marker and antifibrogenic therapeutic target in patients with chronic liver disease
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • zebrafish, mice and xenopus models of gdf6 inhibition with ocular developmental phenotype
  • in mice, loss of Gdf6 results in fusion of the coronal suture, the intramembranous joint that separates the frontal and parietal bones