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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
    Physical map
    WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1 LOC389521 7 LOC389521 WBSCR23 7q11.23 Williams-Beuren syndrome chromosome region 23 GTF2I 7q11.23 general transcription factor II, i GTF2IRD2 7q11.23 transcription factor GTF2IRD2 LOC389522 7 similar to Cohesin subunit SA-3 (Stromal antigen 3) (SCC3 homolog 3) PMS2L5 7q11-q22 postmeiotic segregation increased 2-like 5 LOC389523 7 similar to opposite strand transcription unit to Stag3; Gats protein WBSCR16 7q11.23 Williams-Beuren syndrome chromosome region 16 LOC389524 7 similar to transcription factor GTF2IRD2 NCF1 7q11.23 neutrophil cytosolic factor 1 (47kDa, chronic granulomatous disease, autosomal 1) LOC392058 7 similar to opposite strand transcription unit to Stag3; Gats protein PMS2L2 7q11-q22 postmeiotic segregation increased 2-like 2 LOC222190 7q11.23 hypothetical gene supported by AK024602 DKFZP434A0131 7q11.23-q21.1 DKFZp434A0131 protein TRIM50B 7q11.23 tripartite motif-containing 50B WBSCR20B 7q11.23 tripartite motif-containing 50B LOC340318 7q11.23 hypothetical protein LOC340318
    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