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FLASH GENE
Symbol GTF2IRD2 contributors: mct/npt - updated : 20-01-2010
HGNC name GTF2I repeat domain containing 2
HGNC id 30775
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 74.210.483 - 74.267.841
Synonym name
  • GTF2I repeat domain-containing protein 2A
  • transcription factor GTF2IRD2
  • general transcription factor II i repeat domain 2 alpha
  • Synonym symbol(s) FLJ21423, GTF2I.4, GTF2IRD2A, FLJ37938, FP630, MGC75203
    DNA
    TYPE functioning gene
    STRUCTURE 57.36 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure TF2B recognition element, binding sites for GC and CCAAT box-binding proteins
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 3551 107.1 949 - Makeyev (2004)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtooth   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text in the epithelial buds
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two GTF2I-like repeats containing helix-loop-helix motifs
  • an unusual C-terminal CHARLIE8 transposon-like domain, thought to have arisen as a consequence of the random insertion of a transposable element generating a functional fusion gene
  • two leucine zippers
  • a single Cys-2/His-2 zinc finger
  • HOMOLOGY
    interspecies ortholog to murine Gtf2ird1
    Homologene
    FAMILY
  • TFII-I family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • playing a role in the pathogenesis of Williams-Beuren syndrome
  • may be playing a role in promoting the unequal homologous recombination events underlying the WBS deletion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • for higher-level (executive functioning) abilities,
  • Marker
    Therapy target
    ANIMAL & CELL MODELS