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FLASH GENE
Symbol GBX2 contributors: mct - updated : 10-09-2017
HGNC name gastrulation brain homeobox 2
HGNC id 4186
Location 2q37.2      Physical location : 237.074.306 - 237.076.652
Synonym name gastrulation and brain specific 2 gene
DNA
TYPE functioning gene
STRUCTURE 2.35 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1335 37.2 348 - 2007 17060451
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach    
Nervousbrain    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text gastrulation
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • helix-turn-helix, DNA binding domain
    • HOMOLOGY
    interspecies homolog to murine telencephalon expressed Gbx 2
    Homologene
    FAMILY
  • homeodomain family of DNA binding protein
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • maybe acting as a transcription factor for cell pluripotency and differentiation in the embryo
  • within the developing thalamus, the dynamic and differential expression of GBX2 may be involved in the specific segregation of thalamic neurons, leading to partition of the thalamus into different nuclei
  • earliest factor in the neural crest genetic cascade being directly regulated by the inductive molecules, and posteriorization of the neural folds is an essential step in neural crest specification
  • potentially required for the development of striatal cholinergic interneurons, perhaps by regulating tangential migration of the striatal cholinergic precursors
  • essential for specifying hindbrain fate
  • GBX2 and FGF8 are sequentially required for formation of the midbrain-hindbrain compartment boundary
  • has an evolutionarily conserved role in anterior hindbrain development
  • its expression is transient and is extinguished ventrally in a rostral to caudal gradient
  • GBX2 restricts the OTX2 expression to the forebrain/midbrain (FM) by directly binding to its FM enhancer, competing with the class III POU factors
  • GBX2 is essential for establishing the distinct expression patterns of ROBO1 and ROBO2 in the developing thalamus
  • GBX2 is essential to repress ROBO1 in the lateral-most area of the thalamus, probably by inhibiting LHX9 transcription in this region
    • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GBX2 and OTX2 interact with the WD40 domain of Groucho/Tle corepressors
  • direct target gene of SALL1, and is directly repressed in a NuRD-dependent fashion
  • OTX2 expression is activated by the class III POU factors in the forebrain and midbrain, whereas it is repressed by GBX2 in the hindbrain
  • LMO3 is a putative direct transcriptional target of GBX2 (GBX2 regulates the LIM transcriptional codes comprising LHX2, LHX9 and LMO3, which subsequently control the differential expression of ROBO1 and ROBO2 in the thalamus
  • ETV4 and ETV5, potentially through regulation of GBX2 and TCF15, are involved in the ES cell proliferation and induction of differentiation-associated genes in ES cells
  • DNMT3A is important for enabling the activation of GBX2 expression, necessary for normal development of the inner ear
  • SOX1 binds to the distal region of GBX2 to activate its expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS