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FLASH GENE
Symbol GDF6 contributors: mct - updated : 10-10-2016
HGNC name growth differentiation factor 6
HGNC id 4221
Corresponding disease
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
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
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KFS1 , LCA17 , MCOP4 , SYNS4
    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
    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
    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