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FLASH GENE
Symbol GDF6 contributors: mct - updated : 18-04-2023
HGNC name growth differentiation factor 6
HGNC id 4221
Corresponding disease
DFNB118 deafness, autosomal recessive 118, with cochlear aplasia
KFS1 Klippel-Feil syndrome with laryngeal malformation
LCA17 Leber congenital amaurosis 17
MCOP4 microphthalmia, isolated 4
SYNS4 deafness-symphalangism syndrome 4
Location 8q22.1      Physical location : 97.154.559 - 97.173.020
Synonym name
  • growth/differentiation factor 16
  • bone morphogenetic protein 13
  • Synonym symbol(s) GDF16, CDMP2, GDF-6, BMP13, KFS, KFSL, MGC158100, MGC158101, SGM1, MCOP4
    DNA
    TYPE functioning gene
    STRUCTURE 18.46 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3716 50.7 455 - 2008 18425797
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text embryonic proximal limbs joints, skull, larynx and digits, neural tube, retina, teeeth
    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