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FLASH GENE
Symbol DGCR14 contributors: mct - updated : 12-03-2011
HGNC name DiGeorge syndrome critical region gene 14
HGNC id 16817
Location 22q11.21      Physical location : 19.117.792 - 19.132.190
Synonym name
  • transcript DGS-I
  • DiGeorge syndrome critical region gene 13
  • ES2 protein
  • DiGeorge syndrome gene H
  • DiGeorge syndrome gene I
    • Synonym symbol(s) ES2, DGSI, DGS-I, Ese2el, DGCR13, DGS-H
    DNA
    TYPE functioning gene
    STRUCTURE 14.40 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see DGCR
    regionally located from the DGCR minimal critical region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1832 - - testis 1996 8776594
    10 - 5405 - - heart 1996 8776594
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineneuroendocrinepituitary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil domain
    • HOMOLOGY
    interspecies homolog to murine Dgsi
    homolog to Drosophila ES2
    homolog to C.elegans F42H10.7
    Homologene
    FAMILY
  • DGCR14 family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • likely to play an important role in the etiology of schizophrenia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS