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FLASH GENE
Symbol GSC contributors: mct - updated : 22-08-2011
HGNC name goosecoid
HGNC id 4612
Corresponding disease
SAMS Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
Location 14q32.1      Physical location : 95.234.560 - 95.236.499
Synonym name Spemann organizer gene
DNA
TYPE functioning gene
STRUCTURE 1.94 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element)
  • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1217 - 257 - 2006 17142318
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemuterus   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period
    Text gastrulation
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    helix-turn-helix, DNA binding domain
    HOMOLOGY
    interspecies homolog to Xenopus goosecoid
    Homologene
    FAMILY paired homeobox family, bicoid subfamily
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • localized specifically to nuclei 5)
  • basic FUNCTION
  • involved in gastrulation process
  • may play a role in spatial programing within discrete embryonic fields or lineage compartements during organogenesis
  • promoting tumor cell malignancy
  • functions as a transcriptional repressor either by direct DNA binding to paired TAAT homeodomain sites or through recruitment by the forkhead/winged helix transcription factor FOXH1
  • having an essential role in craniofacial and joint development, suggesting that GSC is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WWP2 influences craniofacial patterning through its interactions with Goosecoid (GSC), a paired-like homeobox transcription factor that has an important role in craniofacial development
  • interacts exclusively with SMAD2, SMAD3 and S
  • cell & other
    REGULATION
    Other post-translationally modified by small ubiquitin-like modifier proteins (SUMO)
    ASSOCIATED DISORDERS
    corresponding disease(s) SAMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer, with metastasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS