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FLASH GENE
Symbol WBSCR27 contributors: npt/ - updated : 16-12-2003
HGNC name Williams-Beuren syndrome chromosome region 27
HGNC id 19068
Location 7q11.23      Physical location : 73.248.920 - 73.256.855
Synonym symbol(s) MGC40131
DNA
TYPE functioning gene
STRUCTURE 7.93 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
regionally located mapped to the commonly deleted region for Williams-Beuren syndrome
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 958 26.4 245 - Hahn (2005)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a methyltransferase domain
    • HOMOLOGY
    Homologene
    FAMILY
  • ubiE/COQ5 methyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • methyltransferase activity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS