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FLASH GENE
Symbol DGCR6 contributors: npt - updated : 22-06-2005
HGNC name DiGeorge syndrome critical region gene 6
HGNC id 2846
Location 22q11.21      Physical location : 18.893.735 - 18.899.600
Synonym name Drosophila gonadal(Gdl) homolog
Synonym symbol(s) DGC6, GDL, GDLH
DNA
TYPE functioning gene
STRUCTURE 5.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 1188 25 220 - -
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrain   highly
 spinal cord    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • hydrophobic N-terminal stretch of amino acids at position 49-69
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Dgcr6
    intraspecies homolog to GDL and LAMC1
    Homologene
    FAMILY
  • gonadal family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus
    text extracellular matrix
    basic FUNCTION
  • maybe playing a role in neural crest cell migration into the third and fourth pharyngeal pouches
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS development
    text histogenesis, organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with LMP1 (transactivation)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in B cell transformed by EBV
    constitutional        
    Di George syndrome
    Susceptibility to schizophrenia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS